John Hardy

Q: What Schools Are Affiliated With John Hardy

John Hardy is affiliated with the following schools: University of Oxford, University College London, University of Leeds, Imperial College London, Wake Forest University, University of South Florida, Umeå University, Hong Kong University of Science and Technology

John Hardy 's AcademicInfluence.com Rankings

John Hardy

Biology

#917

World Rank

#1603

Historical Rank

#490

USA Rank

Genetics

#60

World Rank

#91

Historical Rank

#39

USA Rank

biology Degrees

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Biology

Why Is John Hardy Influential?

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According to Wikipedia, Sir John Anthony Hardy is a human geneticist and molecular biologist at the Reta Lila Weston Institute of Neurological Studies at University College London with research interests in neurological diseases.

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John Hardy 's Published Works

Number of citations in a given year to any of this author's works

Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author

Published Works

The Amyloid Hypothesis of Alzheimer's Disease: Progress and Problems on the Road to Therapeutics (2002) (12550)
Alzheimer's disease: the amyloid cascade hypothesis. (1992) (5992)
Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease (1991) (4571)
Mild cognitive impairment – beyond controversies, towards a consensus: report of the International Working Group on Mild Cognitive Impairment (2004) (4172)
A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD (2011) (3746)
The amyloid hypothesis of Alzheimer's disease at 25 years (2016) (3739)
α-Synuclein Locus Triplication Causes Parkinson's Disease (2003) (3683)
Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease (2013) (3484)
Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17 (1998) (3363)
Diagnosis and management of dementia with Lewy bodies (2005) (3346)
Secreted amyloid β–protein similar to that in the senile plaques of Alzheimer's disease is increased in vivo by the presenilin 1 and 2 and APP mutations linked to familial Alzheimer's disease (1996) (2328)
Amyloid deposition as the central event in the aetiology of Alzheimer's disease. (1991) (2228)
TREM2 variants in Alzheimer's disease. (2013) (2173)
alpha-Synuclein locus triplication causes Parkinson's disease. (2003) (2042)
Genome-Wide Association Study reveals genetic risk underlying Parkinson’s disease (2009) (1770)
Common variants in ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer’s disease (2011) (1701)
Common variants in MS4A4/MS4A6E, CD2uAP, CD33, and EPHA1 are associated with late-onset Alzheimer’s disease (2011) (1656)
Letter abstract - Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's Disease (2009) (1644)
Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson’s disease (2014) (1591)
Enhanced Neurofibrillary Degeneration in Transgenic Mice Expressing Mutant Tau and APP (2001) (1580)
Increased amyloid-β42(43) in brains of mice expressing mutant presenilin 1 (1996) (1502)
Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease, and shows evidence for additional susceptibility genes (2009) (1441)
Amyloid, the presenilins and Alzheimer's disease (1997) (1436)
Aβ peptide vaccination prevents memory loss in an animal model of Alzheimer's disease (2000) (1406)
Accelerated Alzheimer-type phenotype in transgenic mice carrying both mutant amyloid precursor protein and presenilin 1 transgenes (1998) (1400)
Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease (2013) (1388)
Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer’s disease risk (2019) (1232)
Gene-Wide Analysis Detects Two New Susceptibility Genes for Alzheimer's Disease (2014) (1230)
Early-onset Alzheimer's disease caused by mutations at codon 717 of the β-amyloid precursor protein gene (1991) (1219)
Toxic Proteins in Neurodegenerative Disease (2002) (1197)
Neurofibrillary tangles, amyotrophy and progressive motor disturbance in mice expressing mutant (P301L) tau protein (2000) (1105)
Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing (2019) (1073)
Endoproteolysis of Presenilin 1 and Accumulation of Processed Derivatives In Vivo (1996) (1061)
Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study (2012) (1007)
Alzheimer's disease (2018) (979)
Functional brain abnormalities in young adults at genetic risk for late-onset Alzheimer's dementia (2003) (911)
Secreted amyloid beta-protein similar to that in the senile plaques of Alzheimer's disease is increased in vivo by the presenilin 1 and 2 and APP mutations linked to familial Alzheimer's disease. (1996) (884)
Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies (2011) (873)
Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies (2019) (871)
Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies (2019) (871)
Genotype, haplotype and copy-number variation in worldwide human populations (2008) (866)
The interleukin-6 receptor as a target for prevention of coronary heart disease: a mendelian randomisation analysis (2012) (864)
The amyloid hypothesis for Alzheimer’s disease: a critical reappraisal (2009) (789)
Genomewide association studies and human disease. (2009) (778)
Association of an extended haplotype in the tau gene with progressive supranuclear palsy. (1999) (756)
Common genetic variants influence human subcortical brain structures (2015) (731)
Neuropathological assessment of Parkinson's disease: refining the diagnostic criteria (2009) (711)
Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease (2017) (693)
A genome-wide association study implicates diacylglycerol kinase eta (DGKH) and several other genes in the etiology of bipolar disorder (2008) (675)
CHIP and Hsp70 regulate tau ubiquitination, degradation and aggregation (2004) (652)
A beta peptide vaccination prevents memory loss in an animal model of Alzheimer's disease. (2000) (648)
The ENIGMA Consortium: large-scale collaborative analyses of neuroimaging and genetic data (2014) (646)
Green Tea Epigallocatechin-3-Gallate (EGCG) Modulates Amyloid Precursor Protein Cleavage and Reduces Cerebral Amyloidosis in Alzheimer Transgenic Mice (2005) (635)
Biomarkers for Alzheimer's disease: academic, industry and regulatory perspectives (2010) (616)
Genetic variability in the regulation of gene expression in ten regions of the human brain (2014) (610)
Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease. (2009) (608)
Genetic Evidence Implicates the Immune System and Cholesterol Metabolism in the Aetiology of Alzheimer's Disease (2010) (587)
TREM2 mutations implicated in neurodegeneration impair cell surface transport and phagocytosis (2014) (580)
Parkin Protects against the Toxicity Associated with Mutant α-Synuclein Proteasome Dysfunction Selectively Affects Catecholaminergic Neurons (2002) (579)
The Neuropathology and Neurobiology of Traumatic Brain Injury (2012) (572)
Parkinson's disease (2009) (566)
α‐Synuclein implicated in Parkinson's disease is present in extracellular biological fluids, including human plasma (2003) (563)
Aβ42 Is Essential for Parenchymal and Vascular Amyloid Deposition in Mice (2005) (552)
Comprehensive Research Synopsis and Systematic Meta-Analyses in Parkinson's Disease Genetics: The PDGene Database (2012) (546)
A high-density whole-genome association study reveals that APOE is the major susceptibility gene for sporadic late-onset Alzheimer's disease. (2007) (521)
A survey of genetic human cortical gene expression (2007) (519)
α-Synuclein Shares Physical and Functional Homology with 14-3-3 Proteins (1999) (499)
Lewy bodies and parkinsonism in families with parkin mutations (2001) (488)
Identification of common variants influencing risk of the tauopathy Progressive Supranuclear Palsy (2011) (481)
Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions (2010) (475)
Characterization of PLA2G6 as a locus for dystonia‐parkinsonism (2008) (466)
Amyloid beta protein precursor gene and hereditary cerebral hemorrhage with amyloidosis (Dutch). (1990) (463)
The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families (1995) (461)
Mapping the human genetic architecture of COVID-19 (2021) (455)
The A53T α-Synuclein Mutation Increases Iron-Dependent Aggregation and Toxicity (2000) (453)
GAB2 Alleles Modify Alzheimer's Risk in APOE ɛ4 Carriers (2007) (452)
The transcriptional landscape of age in human peripheral blood (2015) (450)
APP mouse models for Alzheimer's disease preclinical studies (2017) (448)
Glucocerebrosidase Deficiency in Substantia Nigra of Parkinson Disease Brains (2012) (443)
Estimation of the genetic contribution of presenilin-1 and -2 mutations in a population-based study of presenile Alzheimer disease. (1998) (437)
A Hundred Years of Alzheimer's Disease Research (2006) (435)
The expression of DJ-1 (PARK7) in normal human CNS and idiopathic Parkinson's disease. (2004) (432)
Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis (2016) (424)
Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer’s disease (2013) (418)
The heritability and genetics of frontotemporal lobar degeneration (2009) (415)
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene (2018) (414)
Genetic linkage studies suggest that Alzheimer's disease is not a single homogeneous disorder (1990) (413)
Genome-wide genotyping in Parkinson's disease and neurologically normal controls: first stage analysis and public release of data (2006) (412)
Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion: clinical, neuroanatomical and neuropathological features (2012) (410)
Senile systemic amyloidosis affects 25% of the very aged and associates with genetic variation in alpha2‐macroglobulin and tau: A population‐based autopsy study (2008) (409)
Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis (2014) (404)
Parkinson's disease induced pluripotent stem cells with triplication of the α-synuclein locus (2011) (404)
Alzheimer's disease: the amyloid cascade hypothesis: an update and reappraisal. (2006) (404)
Genome, transcriptome and proteome: the rise of omics data and their integration in biomedical sciences (2016) (398)
Susceptibility locus for Alzheimer's disease on chromosome 10. (2000) (397)
A genetic cause of Alzheimer disease: mechanistic insights from Down syndrome (2015) (393)
A rapid method for preparing synaptosomes: Comparison, with alternative procedures (1981) (392)
Corticobasal degeneration and progressive supranuclear palsy share a common tau haplotype (2001) (387)
Time to Redefine PD? Introductory Statement of the MDS Task Force on the Definition of Parkinson's Disease (2014) (384)
Parkinson's disease (vol 373, pg 2055, 2009) (2009) (384)
A full genome scan for late onset Alzheimer's disease (1999) (383)
A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies. (2013) (357)
DLB and PDD boundary issues (2007) (351)
Correlations between apolipoprotein E ε4 gene dose and brain-imaging measurements of regional hypometabolism (2005) (350)
Correlations between apolipoprotein E ε4 gene dose and brain-imaging measurements of regional hypometabolism (2005) (350)
α-Synucleinopathy associated with G51D SNCA mutation: a link between Parkinson’s disease and multiple system atrophy? (2013) (349)
Genetic classification of primary neurodegenerative disease. (1998) (342)
Apolipoprotein E in Alzheimer's disease: an update. (2014) (341)
A variant of Alzheimer's disease with spastic paraparesis and unusual plaques due to deletion of exon 9 of presenilin 1 (1998) (339)
α-synuclein gene haplotypes are associated with Parkinson’s disease (2001) (334)
A Loss of Function Mutation of Presenilin-2 Interferes with Amyloid β-Peptide Production and Notch Signaling* (1999) (318)
Common polygenic variation enhances risk prediction for Alzheimer's disease. (2015) (316)
Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA. (2012) (313)
Using exome sequencing to reveal mutations in TREM2 presenting as a frontotemporal dementia-like syndrome without bone involvement. (2012) (309)
Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population. (2013) (309)
Clinical and neuroanatomical signatures of tissue pathology in frontotemporal lobar degeneration (2011) (301)
Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias (2014) (295)
Genetic control of human brain transcript expression in Alzheimer disease. (2009) (293)
Common variants at ABCA 7 , MS 4 A 6 A / MS 4 A 4 E , EPHA 1 , CD 33 and CD 2 AP are associated with Alzheimer ’ s disease (2011) (292)
Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy. (2016) (292)
Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72. (2012) (288)
The presenilins and Alzheimer's disease. (1997) (287)
Selective vulnerability in neurodegenerative diseases (2018) (286)
Major Shifts in Glial Regional Identity Are a Transcriptional Hallmark of Human Brain Aging (2017) (284)
Genetic dissection of Alzheimer's disease and related dementias: amyloid and its relationship to tau (1998) (283)
Effect modification by population dietary folate on the association between MTHFR genotype, homocysteine, and stroke risk: a meta-analysis of genetic studies and randomised trials (2011) (281)
Excessive burden of lysosomal storage disorder gene variants in Parkinson’s disease (2017) (278)
Genetic Analysis of Pathways to Parkinson Disease (2010) (278)
GAB2 alleles modify Alzheimer's risk in APOE epsilon4 carriers. (2007) (277)
Genetic assessment of age-associated Alzheimer disease risk: Development and validation of a polygenic hazard score (2017) (277)
A locus for familial early–onset Alzhelmer's disease on the long arm of chromosome 14, proximal to the α1–antichymotrypsin gene (1992) (277)
Common variants at MS 4 A 4 / MS 4 A 6 E , CD 2 AP , CD 33 and EPHA 1 are associated with late-onset Alzheimer ’ s disease (2011) (274)
Deletion at ITPR1 Underlies Ataxia in Mice and Spinocerebellar Ataxia 15 in Humans (2007) (272)
A mutation in Alzheimer's disease destroying a splice acceptor site in the presenilin-1 gene (1995) (272)
Lack of Nigral Pathology in Transgenic Mice Expressing Human α-Synuclein Driven by the Tyrosine Hydroxylase Promoter (2001) (272)
Glycine 384 is required for presenilin-1 function and is conserved in bacterial polytopic aspartyl proteases (2000) (270)
Widespread Alterations of α-Synuclein in Multiple System Atrophy (1999) (267)
PREDISPOSING LOCUS FOR ALZHEIMER'S DISEASE ON CHROMOSOME 21 (1989) (267)
Transmitter deficits in Alzheimer's disease (1985) (266)
SNCA variants are associated with increased risk for multiple system atrophy (2009) (263)
Frontotemporal dementia and its subtypes: a genome-wide association study (2014) (262)
Biological markers for therapeutic trials in Alzheimer’s disease Proceedings of the biological markers working group; NIA initiative on neuroimaging in Alzheimer’s disease (2003) (261)
A chromosome 4p haplotype segregating with Parkinson's disease and postural tremor. (1999) (259)
Genome-wide association study of obsessive-compulsive disorder (2013) (256)
Common genetic variation within the Low-Density Lipoprotein Receptor-Related Protein 6 and late-onset Alzheimer's disease (2007) (252)
Linkage disequilibrium fine mapping and haplotype association analysis of the tau gene in progressive supranuclear palsy and corticobasal degeneration (2005) (251)
Genome-wide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individuals. (2007) (249)
Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study (2010) (247)
A NOVEL ALZHEIMER DISEASE LOCUS LOCATED NEAR THE GENE ENCODING TAU PROTEIN (2015) (246)
Early‐onset L‐dopa‐responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations (2010) (246)
New insights into the genetic etiology of Alzheimer’s disease and related dementias (2022) (246)
A new pathogenic mutation in the APP gene (I716V) increases the relative proportion of A beta 42(43). (1997) (242)
A Critique of the Drug Discovery and Phase 3 Clinical Programs Targeting the Amyloid Hypothesis for Alzheimer Disease (2014) (242)
Association of CR1, CLU and PICALM with Alzheimer's disease in a cohort of clinically characterized and neuropathologically verified individuals. (2010) (240)
Pathways to Alzheimer's disease (2014) (239)
Novel genetic loci associated with hippocampal volume (2017) (238)
Early‐onset Parkinson's disease caused by a compound heterozygous DJ‐1 mutation (2003) (237)
Prion dementia without characteristic pathology (1990) (235)
The genetic architecture of Alzheimer's disease: beyond APP, PSENs and APOE (2012) (235)
The MAPT H1c risk haplotype is associated with increased expression of tau and especially of 4 repeat containing transcripts (2007) (234)
Has the amyloid cascade hypothesis for Alzheimer's disease been proved? (2006) (233)
Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data (2007) (233)
The Alzheimer family of diseases: many etiologies, one pathogenesis? (1997) (227)
Genotype-imputation accuracy across worldwide human populations. (2009) (224)
Support for association between ADHD and two candidate genes: NET1 and DRD1 (2005) (223)
Quality control parameters on a large dataset of regionally dissected human control brains for whole genome expression studies (2011) (222)
Increased cerebrospinal fluid soluble TREM2 concentration in Alzheimer’s disease (2016) (220)
Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA) (2010) (218)
Molecular nexopathies: a new paradigm of neurodegenerative disease (2013) (216)
Dissection of the genetics of Parkinson's disease identifies an additional association 5′ of SNCA and multiple associated haplotypes at 17q21 (2010) (215)
Microglial genes regulating neuroinflammation in the progression of Alzheimer's disease (2016) (214)
alpha-Synuclein shares physical and functional homology with 14-3-3 proteins. (1999) (213)
Complex relationship between Parkin mutations and Parkinson disease. (2002) (212)
A genome-wide gene-expression analysis and database in transgenic mice during development of amyloid or tau pathology. (2015) (212)
The genetics of Parkinson's syndromes: a critical review. (2009) (210)
Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease. (2004) (209)
Full genome screen for Alzheimer disease: stage II analysis. (2002) (209)
The H1c haplotype at the MAPT locus is associated with Alzheimer's disease. (2005) (209)
Widespread sex differences in gene expression and splicing in the adult human brain (2013) (209)
Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP (2010) (209)
A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease. (2009) (208)
A genome-wide genotyping study in patients with ischaemic stroke: initial analysis and data release (2007) (207)
The PARK8 locus in autosomal dominant parkinsonism: confirmation of linkage and further delineation of the disease-containing interval. (2004) (207)
The genetics of ischaemic stroke (2010) (207)
Spinocerebellar ataxia type 2 with parkinsonism in ethnic Chinese (2000) (205)
The A53T alpha-synuclein mutation increases iron-dependent aggregation and toxicity. (2000) (203)
The β-Secretase BACE1 in Alzheimer’s Disease (2020) (202)
C9orf72 expansions in frontotemporal dementia and amyotrophic lateral sclerosis (2015) (201)
Correlations between apolipoprotein E epsilon4 gene dose and brain-imaging measurements of regional hypometabolism. (2005) (198)
Widespread Lewy body and tau accumulation in childhood and adult onset dystonia-parkinsonism cases with PLA2G6 mutations (2012) (196)
DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA (2008) (196)
An integrative hypothesis concerning the pathogenesis and progression of Alzheimer's disease (1986) (195)
Exceptionally low likelihood of Alzheimer’s dementia in APOE2 homozygotes from a 5,000-person neuropathological study (2019) (194)
Novel genetic loci underlying human intracranial volume identified through genome-wide association (2016) (192)
The Parkinson’s disease genes Fbxo7 and Parkin interact to mediate mitophagy (2013) (190)
Parkinson's disease age at onset genome‐wide association study: Defining heritability, genetic loci, and α‐synuclein mechanisms (2019) (189)
Evolutionary toggling of the MAPT 17q21.31 inversion region (2008) (185)
The Amyloid-β Pathway in Alzheimer’s Disease (2021) (185)
Genome-wide Pleiotropy Between Parkinson Disease and Autoimmune Diseases (2017) (185)
Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodies (2014) (185)
An additional k-means clustering step improves the biological features of WGCNA gene co-expression networks (2017) (182)
Distinctive neuropathology revealed by α-synuclein antibodies in hereditary parkinsonism and dementia linked to chromosome 4p (2000) (182)
Novel splicing mutation in the progranulin gene causing familial corticobasal syndrome. (2006) (180)
Inherited prion disease with 144 base pair gene insertion. 2. Clinical and pathological features. (1992) (179)
Hallmarks of Alzheimer’s Disease in Stem-Cell-Derived Human Neurons Transplanted into Mouse Brain (2017) (177)
TREM2 and neurodegenerative disease. (2013) (177)
MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies (2012) (176)
Dense-core plaques in Tg2576 and PSAPP mouse models of Alzheimer's disease are centered on vessel walls. (2005) (173)
Convergent genetic and expression data implicate immunity in Alzheimer's disease (2014) (172)
Diagnosis of Parkinson's disease on the basis of clinical and genetic classification: a population-based modelling study (2015) (172)
Familial non-specific dementia maps to chromosome 3. (1995) (172)
Repeat expansion in C9ORF72 in Alzheimer's disease. (2012) (171)
Two novel (M233T and ρ278T) presenilin‐1 mutations in early‐onset Alzheimer's disease pedigrees and preliminary evidence for association of presenilin‐1 mutations with a novel phenotype (1997) (171)
Using genome-wide complex trait analysis to quantify 'missing heritability' in Parkinson's disease. (2013) (169)
ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation (2010) (168)
Glucocerebrosidase inhibition causes mitochondrial dysfunction and free radical damage (2013) (168)
β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation. (2013) (167)
Mixed pathologies including chronic traumatic encephalopathy account for dementia in retired association football (soccer) players (2017) (165)
alpha-Synuclein gene haplotypes are associated with Parkinson's disease. (2001) (164)
Investigating the genetic architecture of dementia with Lewy bodies: a two-stage genome-wide association study (2018) (163)
Parkinson's disease and α‐synuclein expression (2011) (163)
Inhibition of GSK-3 Ameliorates Aβ Pathology in an Adult-Onset Drosophila Model of Alzheimer's Disease (2010) (163)
Whole Genome Analyses Suggest Ischemic Stroke and Heart Disease Share an Association With Polymorphisms on Chromosome 9p21 (2008) (163)
CR1 is associated with amyloid plaque burden and age‐related cognitive decline (2011) (163)
Milestones in PD genetics (2011) (163)
APP Metabolism Regulates Tau Proteostasis in Human Cerebral Cortex Neurons (2015) (162)
SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosis. (2013) (161)
Mutations in the Autoregulatory Domain of β-Tubulin 4a Cause Hereditary Dystonia (2013) (160)
Parkinson’s disease in GTP cyclohydrolase 1 mutation carriers (2014) (160)
Polygenic score prediction captures nearly all common genetic risk for Alzheimer's disease (2017) (158)
G2019S leucine-rich repeat kinase 2 causes uncoupling protein-mediated mitochondrial depolarization (2012) (156)
Syndromes of neurodegeneration with brain iron accumulation (NBIA): An update on clinical presentations, histological and genetic underpinnings, and treatment considerations (2012) (156)
A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (2006) (156)
Insights into TREM2 biology by network analysis of human brain gene expression data (2013) (155)
Genetic and phenotypic characterization of complex hereditary spastic paraplegia (2016) (155)
Complete analysis of the presenilin 1 gene in early onset Alzheimer's disease (1996) (155)
Co‐ordinate transcriptional regulation of dopamine synthesis genes by α‐synuclein in human neuroblastoma cell lines (2003) (153)
Apolipoprotein E genotype, cardiovascular biomarkers and risk of stroke: systematic review and meta-analysis of 14,015 stroke cases and pooled analysis of primary biomarker data from up to 60,883 individuals. (2013) (151)
Verifying the stroke-free phenotype by structured telephone interview. (2000) (148)
Variant Alzheimer's disease with spastic paraparesis and cotton wool plaques is caused by PS‐1 mutations that lead to exceptionally high amyloid‐β concentrations (2000) (148)
Region-specific loss of glutamate innervation in Alzheimer's disease (1987) (148)
Pick's disease is associated with mutations in the tau gene (2000) (146)
APOE genotype does not modulate age of onset in families with chromosome 14 encoded Alzheimer's disease (1994) (146)
The importance of understanding individual differences in Down syndrome (2016) (145)
Neurological consequences of traumatic brain injuries in sports (2015) (145)
Pronounced impact of Th1/E47cs mutation compared with -491 AT mutation on neural APOE gene expression and risk of developing Alzheimer's disease. (1998) (145)
Reelin and Stk25 Have Opposing Roles in Neuronal Polarization and Dendritic Golgi Deployment (2010) (144)
Association of late-onset Alzheimer's disease with genetic variation in multiple members of the GAPD gene family. (2004) (143)
Effects of multiple genetic loci on age at onset in late-onset Alzheimer disease: a genome-wide association study. (2014) (140)
Cancer and Neurodegeneration: Between the Devil and the Deep Blue Sea (2010) (140)
The chromosome 9 ALS and FTD locus is probably derived from a single founder (2012) (139)
Twenty years of Alzheimer’s disease‐causing mutations (2012) (139)
Spinocerebellar ataxia type 3 phenotypically resembling parkinson disease in a black family. (2001) (137)
Parkin variants in North American Parkinson's disease: Cases and controls (2003) (136)
Comparing Spatial Maps of Human Population-Genetic Variation Using Procrustes Analysis (2010) (136)
The Parkinson ’ s disease – linked proteins Fbxo 7 and Parkin interact to mediate mitophagy (134)
Pathogenic VCP Mutations Induce Mitochondrial Uncoupling and Reduced ATP Levels (2013) (134)
Single-day apolipoprotein E genotyping (1994) (134)
Emerging pathways in genetic Parkinson's disease: Potential role of ceramide metabolism in Lewy body disease (2008) (134)
Loss of PLA2G6 leads to elevated mitochondrial lipid peroxidation and mitochondrial dysfunction (2015) (134)
Polygenic risk score analysis of pathologically confirmed Alzheimer disease (2017) (133)
A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis. (2009) (133)
Low frequency of pathogenic mutations in the ubiquitin carboxy-terminal hydrolase gene in familial Parkinson's disease. (1999) (133)
Lithium Promotes Longevity through GSK3/NRF2-Dependent Hormesis (2016) (133)
Amyloid precursor protein gene mutation in early-onset Alzheimer's disease (1991) (132)
Low frequency of α‐synuclein mutations in familial Parkinson's disease (1998) (132)
Genomewide scans in North American families reveal genetic linkage of essential tremor to a region on chromosome 6p23. (2006) (131)
Genetics of Parkinson's disease and parkinsonism (2006) (131)
Neurobiology of Alzheimer’s Disease: Integrated Molecular, Physiological, Anatomical, Biomarker, and Cognitive Dimensions (2015) (131)
The structure of the tau haplotype in controls and in progressive supranuclear palsy. (2004) (128)
Estimating the causal influence of body mass index on risk of Parkinson disease: A Mendelian randomisation study (2017) (128)
A paired RNAi and RabGAP overexpression screen identifies Rab11 as a regulator of β-amyloid production. (2013) (128)
Creation of an Open-Access, Mutation-Defined Fibroblast Resource for Neurological Disease Research (2012) (126)
Integration of GWAS SNPs and tissue specific expression profiling reveal discrete eQTLs for human traits in blood and brain (2012) (126)
Immune-related genetic enrichment in frontotemporal dementia: An analysis of genome-wide association studies (2018) (126)
Phosphodiesterase 4D and 5‐lipoxygenase activating protein in ischemic stroke (2005) (125)
Genetic overlap between Alzheimer’s disease and Parkinson’s disease at the MAPT locus (2015) (124)
Polygenic Overlap Between C-Reactive Protein, Plasma Lipids, and Alzheimer Disease (2015) (124)
Glucocerebrosidase mutations confer a greater risk of dementia during Parkinson's disease course (2012) (124)
GLUT1 gene mutations cause sporadic paroxysmal exercise‐induced dyskinesias (2009) (123)
Widespread alterations of alpha-synuclein in multiple system atrophy. (1999) (123)
Vascular disease and vascular risk factors in relation to motor features and cognition in early Parkinson's disease (2016) (123)
Cross-disorder genome-wide analyses suggest a complex genetic relationship between Tourette's syndrome and OCD. (2015) (123)
Complement receptor 1 (CR1) and Alzheimer's disease. (2012) (123)
Progranulin mutations and amyotrophic lateral sclerosis or amyotrophic lateral sclerosis–frontotemporal dementia phenotypes (2006) (122)
A genome-wide association study in multiple system atrophy (2016) (122)
DAPK1 variants are associated with Alzheimer's disease and allele-specific expression. (2006) (121)
Recursive splicing in long vertebrate genes (2015) (120)
Genetics and Pathophysiology of Neurodegeneration with Brain Iron Accumulation (NBIA) (2013) (119)
Mutations in PNKP Cause Recessive Ataxia with Oculomotor Apraxia Type 4 (2015) (118)
Use of next-generation sequencing and other whole-genome strategies to dissect neurological disease (2012) (117)
The genetic and pathological classification of familial frontotemporal dementia. (2001) (117)
Parkin disease: a clinicopathologic entity? (2013) (116)
Antiamyloid therapy for Alzheimer's disease--are we on the right road? (2014) (116)
Polygenic risk of Parkinson disease is correlated with disease age at onset (2015) (116)
Profile of families with parkinsonism‐predominant spinocerebellar ataxia type 2 (SCA2) (2004) (116)
Missense variant in TREML2 protects against Alzheimer's disease (2014) (115)
Two-stage association study and meta-analysis of mitochondrial DNA variants in Parkinson disease (2013) (115)
Association between cardiac denervation and parkinsonism caused by α‐synuclein gene triplication (2004) (115)
Inherited frontotemporal dementia in nine British families associated with intronic mutations in the tau gene. (2002) (115)
THAP1 mutations (DYT6) are an additional cause of early-onset dystonia (2010) (114)
The patients dying after long terminal phase have acidotic brains; implications for biochemical measurements on autopsy tissue (2005) (113)
Human Induced Pluripotent Stem Cell-Derived Microglia-Like Cells Harboring TREM2 Missense Mutations Show Specific Deficits in Phagocytosis (2018) (113)
Functional association of the parkin gene promoter with idiopathic Parkinson's disease. (2002) (112)
Faculty Opinions recommendation of Apolipoprotein E epsilon4 allele, elevated midlife total cholesterol level, and high midlife systolic blood pressure are independent risk factors for late-life Alzheimer disease. (2002) (112)
Increased Aβ42(43) from cell lines expressing presenilin 1 mutations (1998) (112)
Contribution of APOE promoter polymorphisms to Alzheimer’s disease risk (2002) (112)
A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinson's disease. (2013) (112)
Genetic neuropathology of Parkinson's disease. (2008) (111)
The tau H2 haplotype is almost exclusively Caucasian in origin (2004) (111)
Sequencing of the α-Synuclein Gene in a Large Series of Cases of Familial Parkinson's Disease Fails to Reveal any Further Mutations (1998) (110)
Developmental regulation of tau splicing is disrupted in stem cell-derived neurons from frontotemporal dementia patients with the 10 + 16 splice-site mutation in MAPT (2015) (110)
Extended tracts of homozygosity identify novel candidate genes associated with late-onset Alzheimer’s disease (2009) (108)
The glucocerobrosidase E326K variant predisposes to Parkinson's disease, but does not cause Gaucher's disease (2013) (107)
Genetic correlation between amyotrophic lateral sclerosis and schizophrenia (2017) (107)
The Etiopathogenesis of Parkinson Disease and Suggestions for Future Research. Part II (2007) (106)
A disorder of cortical GABAergic innervation in Alzheimer's disease (1987) (106)
Expression of normal sequence pathogenic proteins for neurodegenerative disease contributes to disease risk: 'permissive templating' as a general mechanism underlying neurodegeneration. (2005) (106)
Functional Studies of Missense TREM2 Mutations in Human Stem Cell-Derived Microglia (2018) (106)
Prevalence of Alzheimer’s disease in very elderly people (2001) (106)
Correlations Between Apolipoprotein E ε4 Gene Dose and Whole Brain Atrophy Rates (2007) (105)
Genetic studies on chromosome 12 in late-onset Alzheimer disease. (1998) (105)
Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology (2021) (104)
NeuroX, a fast and efficient genotyping platform for investigation of neurodegenerative diseases (2015) (104)
A Presenilin 1 Mutation Associated with Familial Frontotemporal Dementia Inhibits γ-Secretase Cleavage of APP and Notch (2002) (103)
Identification of novel CSF biomarkers for neurodegeneration and their validation by a high-throughput multiplexed targeted proteomic assay (2015) (103)
Chromosome 14–encoded Alzheimer's disease: Genetic and clinicopathological description (1994) (103)
Dementia in Down's syndrome (2016) (103)
Genome-wide association study of Tourette Syndrome (2012) (102)
Ventricular Cerebrospinal Fluid Monoamine Transmitter and Metabolite Concentrations Reflect Human Brain Neurochemistry in Autopsy Cases (1990) (102)
The discovery of Alzheimer‐causing mutations in the APP gene and the formulation of the “amyloid cascade hypothesis” (2017) (102)
Hyposmia and Cognitive Impairment in Gaucher Disease Patients and Carriers (2012) (101)
A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia. (2015) (99)
Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture (2021) (99)
G2019S dardarin substitution is a common cause of Parkinson's disease in a Portuguese cohort (2005) (99)
Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis (2019) (98)
Association of Dementia With Mortality Among Adults With Down Syndrome Older Than 35 Years (2018) (98)
The law of mass action applied to neurodegenerative disease: a hypothesis concerning the etiology and pathogenesis of complex diseases. (2004) (98)
A Drosophila Model of Neuronopathic Gaucher Disease Demonstrates Lysosomal-Autophagic Defects and Altered mTOR Signalling and Is Functionally Rescued by Rapamycin (2016) (97)
Change in nicotinic receptor subtypes in temporal cortex of Alzheimer brains (1988) (97)
Framing β–amyloid (1992) (96)
The dardarin G2019S mutation is a common cause of Parkinson's disease but not other neurodegenerative diseases (2005) (96)
Number of Abeta inoculations in APP+PS1 transgenic mice influences antibody titers, microglial activation, and congophilic plaque levels. (2001) (95)
Substantial linkage disequilibrium across the insulin-degrading enzyme locus but no association with late-onset Alzheimer's disease (2001) (95)
SnapShot: Genetics of Alzheimer’s Disease (2013) (95)
Intralaminar Neurochemical Distributions in Human Midtemporal Cortex: Comparison Between Alzheimer's Disease and the Normal (1984) (95)
Expanding Parkinson’s disease genetics: novel risk loci, genomic context, causal insights and heritable risk (2018) (94)
Variant Alzheimer Disease With Spastic Paraparesis: Neuropathological Phenotype (2001) (93)
A common genetic factor for Parkinson disease in ethnic Chinese population in Taiwan (2006) (93)
PREDICT-PD: Identifying risk of Parkinson's disease in the community: methods and baseline results (2013) (93)
Genetics of Alzheimer’s Disease (2014) (93)
Presynaptic and postsynaptic glutamatergic function in Alzheimer's disease (1988) (93)
Microtubules Deform the Nuclear Membrane and Disrupt Nucleocytoplasmic Transport in Tau-Mediated Frontotemporal Dementia (2019) (93)
Amyloid precursor protein mutation causes Alzheimer's disease in a Swedish family (1994) (93)
Clinicopathological features of familial Alzheimer's disease associated with the M139V mutation in the presenilin 1 gene. Pedigree but not mutation specific age at onset provides evidence for a further genetic factor. (1997) (93)
Genetic architecture of sporadic frontotemporal dementia and overlap with Alzheimer's and Parkinson's diseases (2016) (93)
NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases (2017) (92)
De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions (2016) (92)
Genetic variability at the PARK16 locus (2010) (92)
Genetic modifiers of risk and age at onset in GBA associated Parkinson's disease and Lewy body dementia. (2019) (92)
The Siblings With Ischemic Stroke Study (SWISS) Protocol (2002) (91)
A coding variant in CR1 interacts with APOE-ε4 to influence cognitive decline. (2012) (91)
Genetic association of α2‐macroglobulin with Alzheimer's disease in a Finnish elderly population (1999) (90)
A Pathogenic Presenilin-1 Deletion Causes Abberrant Aβ42 Production in the Absence of Congophilic Amyloid Plaques* (2001) (90)
Apolipoprotein E genotype and Lewy body disease (1995) (90)
Variant Alzheimer’s disease with spastic paraparesis (2000) (90)
Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Greece (2009) (89)
Complexity of the Genetics and Clinical Presentation of Spinocerebellar Ataxia 17 (2018) (89)
Astrogliopathy predominates the earliest stage of corticobasal degeneration pathology. (2016) (89)
Testing times for the “amyloid cascade hypothesis” (2002) (89)
The spread of neurodegenerative disease. (2012) (89)
Analysis of Copy Number Variation in Alzheimer’s Disease in a Cohort of Clinically Characterized and Neuropathologically Verified Individuals (2012) (88)
Distortion of allelic expression of apolipoprotein E in Alzheimer's disease. (1997) (88)
SCA2 may present as levodopa‐responsive parkinsonism (2003) (87)
Regional distribution of pre- and postsynaptic glutamatergic function in Alzheimer's disease (1988) (87)
A Comparison of Methodologies for the Study of Functional Transmitter Neurochemistry in Human Brain (1988) (86)
Association of HFE common mutations with Parkinson's disease, Alzheimer's disease and mild cognitive impairment in a Portuguese cohort (2006) (86)
Motor neuron disease and frontotemporal dementia: sometimes related, sometimes not (2014) (86)
Genetic risk factors for the posterior cortical atrophy variant of Alzheimer's disease (2016) (86)
Aberrant splicing in the presenilin-1 intron 4 mutation causes presenile Alzheimer's disease by increased Abeta42 secretion. (1999) (86)
Phenomenology of “Lubag” or X‐linked dystonia–parkinsonism (2002) (86)
Towards a complete resolution of the genetic architecture of disease. (2010) (86)
Discovery and functional prioritization of Parkinson’s disease candidate genes from large-scale whole exome sequencing (2017) (85)
Sensitization of Neuronal Cells to Oxidative Stress with Mutated Human α‐Synuclein (2000) (85)
Characteristics of frontotemporal dementia patients with a Progranulin mutation (2006) (85)
Metabolically Active Synaptosomes Can Be Prepared from Frozen Rat and Human Brain (1983) (85)
Evidence suggesting that Homo neanderthalensis contributed the H2 MAPT haplotype to Homo sapiens. (2005) (84)
The Evolution of Genetics: Alzheimer’s and Parkinson’s Diseases (2016) (84)
Measures of Autozygosity in Decline: Globalization, Urbanization, and Its Implications for Medical Genetics (2009) (84)
Features of GBA-associated Parkinson’s disease at presentation in the UK Tracking Parkinson’s study (2018) (83)
Trisomy of human chromosome 21 enhances amyloid-β deposition independently of an extra copy of APP (2018) (83)
Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study (2018) (83)
An ‘anatomical cascade hypothesis’ for Alzheimer's disease (1992) (83)
Parkinson’s Disease – the Debate on the Clinical Phenomenology, Aetiology, Pathology and Pathogenesis (2014) (83)
Association between the low density lipoprotein receptor-related protein (LRP) and Alzheimer's disease (1997) (82)
Pathogenic Parkinson’s disease mutations across the functional domains of LRRK2 alter the autophagic/lysosomal response to starvation☆ (2013) (82)
Localization of frontotemporal dementia with parkinsonism in an Australian kindred to chromosome 17q21–22 (1997) (82)
Distinct clinical and neuropathological features of G51D SNCA mutation cases compared with SNCA duplication and H50Q mutation (2015) (81)
Parkinson’s disease genetics: identifying novel risk loci, providing causal insights and improving estimates of heritable risk (2018) (81)
The genetic landscape of Alzheimer disease. (2018) (81)
Identification of evolutionarily conserved gene networks mediating neurodegenerative dementia. (2018) (81)
Human ataxias: a genetic dissection of inositol triphosphate receptor (ITPR1)-dependent signaling (2010) (81)
Optimization of freezing, storage, and thawing conditions for the preparation of metabolically active synaptosomes from frozen rat and human brain. (1986) (80)
The MAPT p.A152T variant is a risk factor associated with tauopathies with atypical clinical and neuropathological features (2012) (80)
The transcriptional factor LBP-1c/CP2/LSF gene on chromosome 12 is a genetic determinant of Alzheimer's disease. (2000) (80)
Resolving the polymorphism-in-probe problem is critical for correct interpretation of expression QTL studies (2013) (79)
Parkinson's Disease and alpha-Synuclein Expression (2011) (79)
Analysis of IFT74 as a candidate gene for chromosome 9p-linked ALS-FTD (2006) (79)
The Ile93Met mutation in the ubiquitin carboxy-terminal-hydrolase-L1 gene is not observed in European cases with familial Parkinson's disease (1999) (79)
Genome screen for loci influencing age at onset and rate of decline in late onset Alzheimer's disease (2005) (79)
Familial Frontotemporal Dementia Associated with a Novel Presenilin-1 Mutation (2002) (78)
Genetic analysis of inherited leukodystrophies: genotype-phenotype correlations in the CSF1R gene. (2013) (78)
Duplication of amyloid precursor protein (APP), but not prion protein (PRNP) gene is a significant cause of early onset dementia in a large UK series (2012) (78)
Sorl1 as an Alzheimer’s Disease Predisposition Gene? (2007) (78)
Familial Alzheimer’s disease patient-derived neurons reveal distinct mutation-specific effects on amyloid-beta (2019) (78)
Heterogeneity within a large kindred with frontotemporal dementia (2007) (78)
Analysis of an early‐onset Parkinson's disease cohort for DJ‐1 mutations (2004) (78)
Blockage of CR1 prevents activation of rodent microglia (2013) (78)
SnapShot: Genetics of Parkinson’s Disease (2015) (77)
ATXN2 trinucleotide repeat length correlates with risk of ALS (2017) (77)
Screening for mutations in the open reading frame and promoter of the beta-amyloid precursor protein gene in familial Alzheimer's disease: identification of a further family with APP717 Val-->Ile. (1992) (77)
Microglia, Alzheimer's Disease, and Complement (2012) (77)
Genotype and phenotype in Parkinson's disease: Lessons in heterogeneity from deep brain stimulation (2013) (76)
FUS and TDP43 genetic variability in FTD and CBS (2012) (76)
Moving beyond neurons: the role of cell type-specific gene regulation in Parkinson’s disease heritability (2018) (76)
Loss-of-function mutations in RAB39B are associated with typical early-onset Parkinson disease (2015) (75)
A generalizable hypothesis for the genetic architecture of disease: pleomorphic risk loci. (2011) (75)
Association between cardiac denervation and parkinsonism caused by alpha-synuclein gene triplication. (2004) (75)
The Etiopathogenesis of Parkinson Disease and Suggestions for Future Research. Part I (2007) (75)
Torsin A haplotype predisposes to idiopathic dystonia (2005) (74)
ApoE genotype and Down's syndrome (1994) (74)
Physostigmine restores3H-acetylcholine efflux from Alzheimer brain slices to normal level (2005) (74)
Non-coding variability at the APOE locus contributes to the Alzheimer’s risk (2019) (74)
Familial Alzheimer's disease. A pedigree with a mis-sense mutation in the amyloid precursor protein gene (amyloid precursor protein 717 valine-->glycine). (1993) (74)
Genome-wide analysis of genetic correlation in dementia with Lewy bodies, Parkinson's and Alzheimer's diseases (2016) (74)
mTOR independent regulation of macroautophagy by Leucine Rich Repeat Kinase 2 via Beclin-1 (2016) (74)
Mendelian disorders and multifactorial traits: the big divide or one for all? (2010) (74)
Relationship of the extended tau haplotype to tau biochemistry and neuropathology in progressive supranuclear palsy (2001) (74)
Ethnic differences in the expression of neurodegenerative disease: Machado‐Joseph disease in Africans and Caucasians (2002) (73)
New insights into the genetics of Alzheimer's disease. (1996) (73)
Review: Prion‐like mechanisms of transactive response DNA binding protein of 43 kDa (TDP‐43) in amyotrophic lateral sclerosis (ALS) (2015) (73)
Screening for the β-amyloid precursor protein mutation (APP717: Val → Ile) in extended pedigrees with early onset Alzheimer's disease (1991) (72)
Senile dementia of the Lewy body type has an apolipoprotein E ε4 allele frequency intermediate between controls and Alzheimer's disease (1994) (71)
TDP-43 Is Not a Common Cause of Sporadic Amyotrophic Lateral Sclerosis (2008) (71)
Deletions at 22q11.2 in idiopathic Parkinson's disease: a combined analysis of genome-wide association data (2016) (71)
SnapShot: Genetics of ALS and FTD (2015) (70)
Selective Genetic Overlap Between Amyotrophic Lateral Sclerosis and Diseases of the Frontotemporal Dementia Spectrum (2018) (70)
Memory Function and Brain Biochemistry in Normal Aging and in Senile Dementia (1985) (68)
Shared genetic risk between corticobasal degeneration, progressive supranuclear palsy, and frontotemporal dementia (2017) (68)
The role of nicotinic receptors in the pathophysiology of Alzheimer's disease. (1989) (68)
Co-association of parkin and α-synuclein (2001) (67)
Compound heterozygous PANK2 mutations confirm HARP and Hallervorden-Spatz syndromes are allelic (2003) (67)
Genomics implicates adaptive and innate immunity in Alzheimer's and Parkinson's diseases (2016) (67)
Familial Parkinsonism and early onset Parkinson's disease in a Brazilian movement disorders clinic: Phenotypic characterization and frequency of SNCA, PRKN, PINK1, and LRRK2 mutations (2009) (67)
Complicated recessive dystonia parkinsonism syndromes (2009) (67)
The Tau H1 Haplotype is associated with Parkinson's disease in the Norwegian population (2002) (67)
A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK (2017) (67)
Genetic comorbidities in Parkinson's disease. (2014) (67)
Disintegrating Brain Networks: from Syndromes to Molecular Nexopathies (2012) (67)
Mitochondrial hyperpolarization in iPSC-derived neurons from patients of FTDP-17 with 10+16 MAPT mutation leads to oxidative stress and neurodegeneration (2017) (66)
Validation of next-generation sequencing technologies in genetic diagnosis of dementia (2014) (66)
ApoE genotype is a risk factor in nonpresenilin early-onset Alzheimer's disease families. (1998) (66)
Correlations between apolipoprotein E epsilon4 gene dose and whole brain atrophy rates. (2007) (66)
Preclinical cognitive decline in late middle-aged asymptomatic apolipoprotein E-e4/4 homozygotes: a replication study (2001) (65)
GLUCOCEREBROSIDASE MUTATIONS IN 108 NEUROPATHOLOGICALLY CONFIRMED CASES OF MULTIPLE SYSTEM ATROPHY (2009) (65)
Analysis of Nigerians with Apparently Sporadic Parkinson Disease for Mutations in LRRK2, PRKN and ATXN3 (2008) (64)
Erratum: Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease (2009) (64)
Transfected synphilin-1 forms cytoplasmic inclusions in HEK293 cells. (2001) (64)
α-2 macroglobulin gene and Alzheimer disease (1999) (64)
New insights on the genetic etiology of Alzheimer’s and related dementia (2020) (64)
Genome-Wide Association Studies of Cognitive and Motor Progression in Parkinson’s Disease (2020) (64)
First effects of rising amyloid-β in transgenic mouse brain: synaptic transmission and gene expression (2015) (63)
Analysis of genome-wide association studies of Alzheimer disease and of Parkinson disease to determine if these 2 diseases share a common genetic risk. (2013) (63)
The Ischemic Stroke Genetics Study (ISGS) Protocol (2003) (63)
Health comorbidities and cognitive abilities across the lifespan in Down syndrome (2020) (62)
Genes and parkinsonism (2003) (62)
The role of variation at AβPP, PSEN1, PSEN2, and MAPT in late onset Alzheimer's disease. (2012) (61)
Genetic Variability in CLU and Its Association with Alzheimer's Disease (2010) (61)
Advances and perspectives from genetic research: development of biological markers in Alzheimer’s disease (2010) (61)
Cotton Wool Plaques in Non‐Familial Late‐Onset Alzheimer Disease (2001) (61)
Loss of GPR3 reduces the amyloid plaque burden and improves memory in Alzheimer’s disease mouse models (2015) (61)
Linkage, whole genome sequence, and biological data implicate variants in RAB10 in Alzheimer’s disease resilience (2017) (61)
Cognitive markers of preclinical and prodromal Alzheimer's disease in Down syndrome (2018) (61)
Cognitive markers of preclinical and prodromal Alzheimer's disease in Down syndrome (2018) (61)
The relationship between amyloid and tau (2003) (61)
Study protocol: Insight 46 – a neuroscience sub-study of the MRC National Survey of Health and Development (2017) (60)
Selective vulnerability in neurodegeneration: insights from clinical variants of Alzheimer's disease (2016) (60)
Genomewide SNP assay reveals mutations underlying Parkinson disease (2008) (60)
SCA15 due to large ITPR1 deletions in a cohort of 333 white families with dominant ataxia. (2011) (60)
Metabolic and functional studies on post-mortem human brain (1983) (59)
Conflicting results regarding the semaphorin gene (SEMA5A) and the risk for Parkinson disease. (2006) (59)
A 6.4 Mb duplication of the α-synuclein locus causing frontotemporal dementia and Parkinsonism: phenotype-genotype correlations. (2014) (58)
Aging related cognitive changes associated with Alzheimer's disease in Down syndrome (2018) (58)
Alzheimer's disease in Down syndrome: An overlooked population for prevention trials (2018) (58)
Genetic risk for alzheimer disease is distinct from genetic risk for amyloid deposition (2019) (58)
Investigating the role of rare coding variability in Mendelian dementia genes (APP, PSEN1, PSEN2, GRN, MAPT, and PRNP) in late-onset Alzheimer's disease (2014) (58)
Association of ABCA1 with late-onset Alzheimer’s disease is not observed in a case-control study (2004) (58)
THAP1 Mutations and Dystonia Phenotypes: Genotype Phenotype Correlations (2012) (58)
Screening for C9ORF72 repeat expansion in FTLD (2012) (58)
Next-generation sequencing reveals substantial genetic contribution to dementia with Lewy bodies (2016) (57)
Cholesterol 25-Hydroxylase on Chromosome 10q Is a Susceptibility Gene for Sporadic Alzheimer’s Disease (2006) (57)
Genetic dissection of Alzheimer's disease and related dementias: amyloid and its relationship to tau (1998) (56)
Clinical and pathological features of an Alzheimer's disease patient with the MAPT ΔK280 mutation (2009) (55)
Refinement of the PARK3 locus on chromosome 2p13 and the analysis of 14 candidate genes (2001) (55)
Identification of Candidate Parkinson Disease Genes by Integrating Genome-Wide Association Study, Expression, and Epigenetic Data Sets (2021) (55)
Alzheimer disease PS-1 exon 9 deletion defined (1999) (55)
Case‐control study of the extended tau gene haplotype in Parkinson's disease (2001) (55)
PREDICT‐PD: An online approach to prospectively identify risk indicators of Parkinson's disease (2017) (55)
Shared genetic contribution to ischemic stroke and Alzheimer's disease (2016) (55)
Identification of genetic risk factors in the Chinese population implicates a role of immune system in Alzheimer’s disease pathogenesis (2018) (54)
Frontotemporal lobar degeneration genome wide association study replication confirms a risk locus shared with amyotrophic lateral sclerosis (2011) (54)
Association between coding variability in the LRP gene and the risk of late-onset Alzheimer’s disease (1999) (54)
Next generation sequencing techniques in neurological diseases: redefining clinical and molecular associations (2014) (54)
Insights from cerebellar transcriptomic analysis into the pathogenesis of ataxia. (2014) (54)
Tracking Parkinson’s: Study Design and Baseline Patient Data (2015) (54)
Structure and alternative splicing of the presenilin-2 gene. (1996) (54)
Polygenic risk and hazard scores for Alzheimer's disease prediction (2019) (53)
Fine-Mapping, Gene Expression and Splicing Analysis of the Disease Associated LRRK2 Locus (2013) (53)
Alzheimer’s disease polygenic risk score as a predictor of conversion from mild-cognitive impairment (2019) (53)
Genome-wide linkage analysis of 723 affected relative pairs with late-onset Alzheimer's disease. (2007) (53)
Peptidylarginine Deiminases—Roles in Cancer and Neurodegeneration and Possible Avenues for Therapeutic Intervention via Modulation of Exosome and Microvesicle (EMV) Release? (2017) (53)
Polymorphism in AACT gene may lower age of onset of Alzheimer's disease (1996) (53)
Cardiovascular risk factors and Alzheimer's disease: a genetic association study in a population aged 85 or over (2000) (53)
Hereditary cerebral hemorrhage with amyloidosis — Dutch type: its importance for Alzheimer research (1991) (53)
Age-associated changes in gene expression in human brain and isolated neurons (2013) (53)
Antisense‐Induced Reduction of Presenilin 1 Expression Selectively Increases the Production of Amyloid β42 in Transfected Cells (1999) (53)
Parietal lobe deficits in frontotemporal lobar degeneration caused by a mutation in the progranulin gene. (2008) (53)
Pathogenic p62/SQSTM1 mutations impair energy metabolism through limitation of mitochondrial substrates (2017) (52)
Amino acid neurotransmitter levels in gliomas and their relationship to the incidence of epilepsy. (1988) (52)
Genetic Variability in CHMP2B and Frontotemporal Dementia (2006) (52)
Plasma biomarkers for amyloid, tau, and cytokines in Down syndrome and sporadic Alzheimer’s disease (2019) (52)
Presenilin mutations line up along transmembrane α-helices (2001) (52)
Investigating the utility of human embryonic stem cell-derived neurons to model ageing and neurodegenerative disease using whole-genome gene expression and splicing analysis (2012) (52)
Lack of G2019S LRRK2 mutation in a cohort of Taiwanese with sporadic Parkinson's disease (2006) (52)
Analysis of Parkinson disease patients from Portugal for mutations in SNCA, PRKN, PINK1 and LRRK2 (2008) (52)
Alzheimer's disease: where next for anti-amyloid therapies? (2017) (52)
Candidate Gene Polymorphisms for Ischemic Stroke (2009) (51)
H‐ABC syndrome and DYT4: Variable expressivity or pleiotropy of TUBB4 mutations? (2015) (51)
Pathological changes in the brain of a patient with familial Alzheimer's disease having a missense mutation at codon 717 in the amyloid precursor protein gene (1992) (51)
Trem2 promotes anti-inflammatory responses in microglia and is suppressed under pro-inflammatory conditions (2018) (51)
Chromosome 14 familial Alzheimer’s disease: the clinical and neuropathological characteristics of a family with a leucine→serine (L250S) substitution at codon 250 of the presenilin 1 gene (1998) (51)
Genome-wide analysis of the parkinsonism-dementia complex of Guam. (2004) (51)
Genetic variability in response to amyloid beta deposition influences Alzheimer’s disease risk (2019) (51)
Additional rare variant analysis in Parkinson’s disease cases with and without known pathogenic mutations: evidence for oligogenic inheritance (2016) (50)
The genetics of disorders with synuclein pathology and parkinsonism. (1999) (50)
Increased brain expression of GPNMB is associated with genome wide significant risk for Parkinson’s disease on chromosome 7p15.3 (2017) (49)
Initial Assessment of the Pathogenic Mechanisms of the Recently Identified Alzheimer Risk Loci (2013) (49)
Genetic analysis of Mendelian mutations in a large UK population-based Parkinson’s disease study (2019) (48)
Gene-based association studies report genetic links for clinical subtypes of frontotemporal dementia (2017) (48)
Use of support vector machines for disease risk prediction in genome‐wide association studies: Concerns and opportunities (2012) (48)
A novel presenilin mutation (M233V) causing very early onset Alzheimer's disease with Lewy bodies (2001) (48)
Increased familial risk and genomewide significant linkage for Alzheimer's disease with psychosis (2007) (48)
Rare and Coding Region Genetic Variants Associated With Risk of Ischemic Stroke: The NHLBI Exome Sequence Project. (2015) (48)
Sequencing of exons 16 and 17 of the β-amyloid precursor protein gene in 14 families with early onset Alzheimer's disease fails to reveal mutations in the β-amyloid sequence (1991) (48)
Presenilin 1 mutation in an african american family presenting with atypical Alzheimer dementia. (2003) (48)
TDP-43 pathology in a patient carrying G2019S LRRK2 mutation and a novel p.Q124E MAPT☆ (2013) (47)
Insertions in the prion protein gene in atypical dementias (1991) (47)
Sequencing of the alpha-synuclein gene in a large series of cases of familial Parkinson's disease fails to reveal any further mutations. The European Consortium on Genetic Susceptibility in Parkinson's Disease (GSPD). (1998) (47)
No association between TAU haplotype and Alzheimer's disease in population or clinic based series or in familial disease (2000) (47)
Genetic modifiers of risk and age at onset in GBA associated Parkinson’s disease and Lewy body dementia (2019) (47)
An Iranian family with Alzheimer's disease caused by a novel APP mutation (Thr714Ala). (2002) (47)
Analysis of tau haplotypes in Pick’s disease (2002) (47)
Mutation in the tau exon 10 splice site region in familial frontotemporal dementia (1999) (46)
Genetic variability at the LXR gene (NR1H2) may contribute to the risk of Alzheimer's disease (2006) (46)
The tau locus is not significantly associated with pathologically confirmed sporadic Parkinson's disease (2002) (46)
A genome-wide screening and SNPs-to-genes approach to identify novel genetic risk factors associated with frontotemporal dementia (2015) (46)
Identification of Modifier Genes in a Mouse Model of Gaucher Disease. (2016) (46)
Case‐control study of debrisoquine 4‐hydroxylase, n‐acetyltransferase 2, and apolipoprotein e gene polymorphisms in Parkinson's disease (2000) (46)
CXCR4 involvement in neurodegenerative diseases (2017) (46)
Alzheimer's disease: In search of γ-secretase (1999) (45)
Case‐Control study of dopamine transporter‐1, monoamine oxidase‐B, and catechol‐O‐methyl transferase polymorphisms in Parkinson's disease (2002) (45)
Neurofilament light as a blood biomarker for neurodegeneration in Down syndrome (2018) (45)
Genetic variability at the amyloid-β precursor protein locus may contribute to the risk of late-onset Alzheimer's disease (1999) (45)
A rare loss-of-function variant of ADAM17 is associated with late-onset familial Alzheimer disease (2018) (45)
A genetic link between risk for Alzheimer's disease and severe COVID-19 outcomes via the OAS1 gene (2021) (45)
Indian‐subcontinent NBIA: Unusual phenotypes, novel PANK2 mutations, and undetermined genetic forms (2010) (45)
Pantothenate kinase-associated neurodegeneration is not a synucleinopathy (2012) (45)
Disentangling the role of the tau gene locus in sporadic tauopathies. (2010) (44)
StemBANCC: Governing Access to Material and Data in a Large Stem Cell Research Consortium (2015) (44)
Genetic influences on atrophy patterns in familial Alzheimer's disease: a comparison of APP and PSEN1 mutations. (2013) (44)
Age-at-Onset in Late Onset Alzheimer Disease is Modified by Multiple Genetic Loci (2014) (44)
Serotonin concentrations in normal aging human brains: Relation to serotonin receptors (1984) (43)
The Val158Met COMT polymorphism is a modifier of the age at onset in Parkinson's disease with a sexual dimorphism (2013) (43)
Pathway of inactivation of cholecystokinin octapeptide (CCK-8) by synaptosomal fractions (1983) (43)
Increased tau messenger RNA in Alzheimer's disease hippocampus. (1990) (43)
Polymorphisms in BACE2 may affect the age of onset Alzheimer's dementia in Down syndrome☆ (2014) (42)
An association study of a functional catalase gene polymorphism, −262C→T, and patients with Alzheimer's disease (2002) (42)
Differential DJ-1 gene expression in Parkinson's disease (2009) (42)
Neurodegenerative diseases of Guam: Analysis of TAU (1999) (42)
No association between the alpha-2 macroglobulin I1000V polymorphism and Alzheimer's disease (1999) (42)
Genetic determinants of survival in progressive supranuclear palsy: a genome-wide association study (2020) (42)
Association of lipoprotein base Ser447Ter polymorphism with brain infarction: a population-based neuropathological study (2001) (41)
Confirmation that familial clustering and age of onset in late onset Alzheimer's disease are determined at the apolipoprotein E locus (1994) (41)
Association of Tau Haplotype-Tagging Polymorphisms with Parkinson’s Disease in Diverse Ethnic Parkinson’s Disease Cohorts (2007) (41)
Early‐onset Alzheimer's disease with a presenilin‐1 mutation at the site corresponding to the volga German presenilin‐2 mutation (1997) (41)
Genetics and molecular mechanisms of frontotemporal lobar degeneration: an update and future avenues (2019) (41)
Orchestrated increase of dopamine and PARK mRNAs but not miR-133b in dopamine neurons in Parkinson's disease☆ (2014) (41)
Study of the genetic variability in a Parkinson's Disease gene: EIF4G1 (2012) (41)
Pathways to primary neurodegenerative disease. (1999) (41)
Amyloid at the blood vessel wall (2006) (41)
Frontotemporal dementia: insights into the biological underpinnings of disease through gene co-expression network analysis (2016) (41)
“Patient-specific Alzheimer-like pathology in trisomy 21 cerebral organoids reveals BACE2 as a gene-dose-sensitive AD-suppressor in human brain” (2020) (40)
Apolipoprotein E in the genetics and epidemiology of Alzheimer's disease. (1995) (40)
Genetic evidence for a pathogenic role for the vitamin D3 metabolizing enzyme CYP24A1 in multiple sclerosis (2014) (40)
A clinical and pathological study of motor neurone disease on Guam. (2001) (40)
Progranulin (GRN) in two siblings of a Latino family and in other patients with Schizophrenia (2010) (40)
The genetics of neurodegenerative diseases (2006) (40)
Genomewide association study in cervical dystonia demonstrates possible association with sodium leak channel (2013) (40)
Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis (2020) (40)
The BDNF val66met polymorphism is not associated with late onset Alzheimer's disease in three case–control samples (2005) (40)
α-Synuclein mutations cluster around a putative protein loop☆ (2013) (40)
A locked immunometabolic switch underlies TREM2 R47H loss of function in human iPSC‐derived microglia (2019) (40)
Genetic association of the APP binding protein 2 gene (APBB2) with late onset Alzheimer disease (2005) (39)
Ageing Increases Vulnerability to Aβ42 Toxicity in Drosophila (2012) (39)
Characterization of two APP gene promoter polymorphisms that appear to influence risk of late-onset Alzheimer's disease (2005) (39)
A MAPT mutation in a regulatory element upstream of exon 10 causes frontotemporal dementia (2006) (39)
Identification and characterization of the human parkin gene promoter (2001) (39)
Sensitization of neuronal cells to oxidative stress with mutated human alpha-synuclein. (2000) (39)
Toward Alzheimer therapies based on genetic knowledge. (2004) (39)
Whole‐exome sequencing of the BDR cohort: evidence to support the role of the PILRA gene in Alzheimer's disease (2018) (39)
Iron accumulation in syndromes of neurodegeneration with brain iron accumulation 1 and 2: causative or consequential? (2009) (39)
GBA-Associated Parkinson's Disease: Progression in a Deep Brain Stimulation Cohort. (2017) (39)
Clinical, 18F‐dopa PET, and genetic analysis of an ethnic Chinese kindred with early‐onset parkinsonism and parkin gene mutations (2002) (39)
Genome-wide scan linkage analysis for Parkinson’s disease: the European genetic study of Parkinson’s disease (2004) (39)
Transcriptomic and genetic analyses reveal potential causal drivers for intractable partial epilepsy. (2019) (38)
ABCA7 p.G215S as potential protective factor for Alzheimer's disease (2016) (38)
Exome sequencing in an SCA14 family demonstrates its utility in diagnosing heterogeneous diseases (2012) (38)
Synaptosomes prepared from fresh human cerebral cortex; morphology, respiration and release of transmitter amino acids (1981) (38)
Agonal status affects the metabolic activity of nerve endings isolated from postmortem human brain. (1985) (38)
Structural genomic variation in ischemic stroke (2008) (38)
Genetics of Alzheimer's disease. (1998) (38)
Myoclonus-dystonia syndrome due to tyrosine hydroxylase deficiency (2012) (38)
Analysis of the PINK1 gene in a cohort of patients with sporadic early-onset parkinsonism in Taiwan (2006) (38)
A novel mutation in the apolipoprotein E gene (APOE*4 Pittsburgh) is associated with the risk of late-onset Alzheimer's disease (1999) (38)
APH1, PEN2, and Nicastrin increase Aβ levels and γ-secretase activity (2003) (38)
Alzheimer's disease genetics: lessons to improve disease modelling. (2011) (38)
Aducanumab: a new phase in therapeutic development for Alzheimer’s disease? (2021) (38)
Alzheimer’s disease and related dementias (2012) (38)
Association studies between risk for late‐onset Alzheimer's disease and variants in insulin degrading enzyme (2005) (38)
Functional characterization of three single‐nucleotide polymorphisms present in the human APOE promoter sequence: Differential effects in neuronal cells and on DNA–protein interactions (2009) (38)
An African American family with early-onset Alzheimer disease and an APP (T714I) mutation (2005) (38)
Mutations in neurofilament genes are not a significant primary cause of non-SOD1-mediated amyotrophic lateral sclerosis (2006) (38)
iPSC-derived neuronal models of PANK2-associated neurodegeneration reveal mitochondrial dysfunction contributing to early disease (2017) (37)
Glucocerebrosidase mutations do not cause increased Lewy body pathology in Parkinson's disease. (2011) (37)
Weighted Protein Interaction Network Analysis of Frontotemporal Dementia (2016) (37)
Characterisation, Density, and Distribution of Kainate Receptors in Normal and Alzheimer's Diseased Human Brain (1989) (37)
Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy (2013) (37)
Polygenic Risk Score Analysis of Alzheimer’s Disease in Cases without APOE4 or APOE2 Alleles (2018) (37)
Endo-lysosomal proteins and ubiquitin CSF concentrations in Alzheimer’s and Parkinson’s disease (2019) (37)
Ubiquilin 1 polymorphisms are not associated with late‐onset Alzheimer's disease (2006) (37)
Parkinson’s disease determinants, prediction and gene–environment interactions in the UK Biobank (2020) (37)
A presenilin 1 mutation (L420R) in a family with early onset Alzheimer disease, seizures and cotton wool plaques, but not spastic paraparesis (2007) (37)
Meta-analysis of genetic association with diagnosed Alzheimer’s disease identifies novel risk loci and implicates Abeta, Tau, immunity and lipid processing (2018) (36)
Analysis of familial and sporadic restless legs syndrome in age of onset, gender, and severity features (2004) (36)
Review: Genetics and neuropathology of primary pure dystonia (2012) (36)
De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes (2019) (36)
Chromosome 21 BACE2 haplotype associates with Alzheimer's disease: A two-stage study (2005) (36)
Apolipoprotein E4 is probably responsible for the chromosome 19 linkage peak for Parkinson's disease (2005) (36)
A further presenilin 1 mutation in the exon 8 cluster in familial Alzheimer's disease. (1996) (36)
α-Synuclein selectively increases manganese-induced viability loss in SK-N-MC neuroblastoma cells expressing the human dopamine transporter (2004) (36)
Corticobasal Degeneration and Frontotemporal Dementia Presentations in a Kindred with Nonspecific Histopathology (2002) (36)
Linkage exclusion in French families with probable Parkinson's disease (2000) (36)
Expression of BRI–amyloid β peptide fusion proteins: a novel method for specific high-level expression of amyloid β peptides (2001) (36)
Amyloid double trouble (2006) (35)
Investigation of next-generation sequencing technologies as a diagnostic tool for amyotrophic lateral sclerosis (2015) (35)
Exome sequencing identifies 2 novel presenilin 1 mutations (p.L166V and p.S230R) in British early-onset Alzheimer's disease☆ (2014) (35)
Parkin Disease and the Lewy Body Conundrum (2013) (35)
Potential human transmission of amyloid β pathology: surveillance and risks (2020) (35)
Co-association of parkin and alpha-synuclein. (2001) (35)
Uptake of γ‐Aminobutyric Acid and Glycine by Synaptosomes from Postmortem Human Brain (1986) (35)
Siblings With Ischemic Stroke Study: Results of a Genome-Wide Scan for Stroke Loci (2011) (35)
Genetic testing in Parkinson's disease (2005) (35)
A comprehensive analysis of methods for assessing polygenic burden on Alzheimer’s disease pathology and risk beyond APOE (2019) (34)
Novel CLN3 mutation causing autophagic vacuolar myopathy (2014) (34)
Does the difference between PART and Alzheimer’s disease lie in the age-related changes in cerebral arteries that trigger the accumulation of Aβ and propagation of tau? (2015) (34)
Complex interactions in Parkinson's disease: A two‐phased approach (2003) (34)
Familial early onset frontotemporal dementia caused by a novel S356T MAPT mutation, initially diagnosed as schizophrenia (2010) (34)
Assessment of common variability and expression quantitative trait loci for genome-wide associations for progressive supranuclear palsy (2014) (34)
Sequence variation in the CHAT locus shows no association with late-onset Alzheimer's disease (2003) (34)
Physical mapping around the Alzheimer disease locus on the proximal long arm of chromosome 21. (1990) (34)
Amyloid or tau: the chicken or the egg? (2013) (34)
Stratification of candidate genes for Parkinson’s disease using weighted protein-protein interaction network analysis (2018) (34)
Dystonia genes functionally converge in specific neurons and share neurobiology with psychiatric disorders (2020) (34)
Dystonia genes functionally converge in specific neurons and share neurobiology with psychiatric disorders (2020) (34)
A locked immunometabolic switch underlies TREM2 R47H loss of function in human iPSC--derived microglia (2019) (34)
Global and local ancestry in African-Americans: Implications for Alzheimer's disease risk (2016) (33)
Amyloid beta protein (Abeta) deposition in chromosome 14-linked Alzheimer's disease: predominance of Abeta42(43). (1996) (33)
Genome-wide association study of obsessive-compulsive disorder (2013) (33)
Clinical features, with video documentation, of the original familial lewy body parkinsonism caused by α‐synuclein triplication (Iowa kindred) (2011) (33)
Neurocirculatory and nigrostriatal abnormalities in Parkinson disease from LRRK2 mutation (2007) (33)
Polymorphism in the human DJ-1 gene is not associated with sporadic dementia with Lewy bodies or Parkinson's disease (2003) (32)
Uptake of γ-aminobutyric acid andl-glutamic acid by synaptosomes from postmortem human cerebral cortex: multiple sites, sodium dependence and effect of tissue preparation (1989) (32)
The regional distribution of dopamine and serotonin uptake and transmitter concentrations in the human brain (1987) (32)
Genome Wide Assessment of Young Onset Parkinson’s Disease from Finland (2012) (32)
Intracerebral haemorrhage in Down syndrome: protected or predisposed? (2016) (32)
Mendelian adult-onset leukodystrophy genes in Alzheimer's disease: critical influence of CSF1R and NOTCH3 (2018) (31)
Variation at the TRIM11 locus modifies progressive supranuclear palsy phenotype (2018) (31)
Glutamatergic neurotransmission in Alzheimer's disease. (1990) (31)
Patient-specific Alzheimer-like pathology in trisomy 21 cerebral organoids reveals BACE2 as a gene dose-sensitive AD suppressor in human brain (2020) (31)
IL1RN VNTR Polymorphism in Ischemic Stroke: Analysis in 3 Populations (2007) (31)
Patient-specific Alzheimer-like pathology in trisomy 21 cerebral organoids reveals BACE2 as a gene dose-sensitive AD suppressor in human brain (2020) (31)
ABCA1 polymorphisms and Alzheimer's disease (2007) (31)
The Parkinson's Disease Mendelian Randomization Research Portal (2019) (31)
Familial Alzheimer's Disease Mutations in PSEN1 Lead to Premature Human Stem Cell Neurogenesis. (2021) (31)
Apolipoprotein E4 and tau allele frequencies among Choctaw Indians (2002) (31)
Insertion of a pathogenic mutation into a yeast artificial chromosome containing the human amyloid precursor protein gene. (1994) (31)
Feasibility of an Affected Sibling Pair Study in Ischemic Stroke: Results of a 2-Center Family History Registry (2001) (31)
CSF biomarkers for Alzheimer's pathology and the effect size of APOE ɛ4 (2013) (31)
A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers (2018) (30)
Presenilin-1 is processed into two major cleavage products in neuronal cell lines. (1996) (30)
Pathogenic LRRK2 Mutations Do Not Alter Gene Expression in Cell Model Systems or Human Brain Tissue (2011) (30)
Novel progranulin mutation: Screening for PGRN mutations in a Portuguese series of FTD/CBS cases (2008) (30)
A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers (2018) (30)
Autonomic Dysfunction in Early Parkinson's Disease: Results from the United Kingdom Tracking Parkinson's Study (2017) (30)
Neuronal intranuclear inclusion disease is genetically heterogeneous (2020) (29)
Mutation analysis of patients with neuronal intermediate filament inclusion disease (NIFID) (2006) (29)
Mechanism of degradation of LH-RH and neurotensin by synaptosomal peptidases (1983) (29)
Susceptible genes and disease mechanisms identified in frontotemporal dementia and frontotemporal dementia with Amyotrophic Lateral Sclerosis by DNA-methylation and GWAS (2017) (29)
Clinical and pathological features of an Alzheimer's disease patient with the MAPT Delta K280 mutation. (2009) (29)
Marked variation in clinical presentation and age of onset in a family with a heterozygous parkin mutation (2003) (29)
Atrial fibrillation genetic risk differentiates cardioembolic stroke from other stroke subtypes (2018) (29)
X‐linked dystonia (“Lubag”) presenting predominantly with parkinsonism: A more benign phenotype? (2002) (29)
Whole genome analysis in a consanguineous family with early onset Alzheimer's disease (2009) (28)
Genetics of Parkinson's disease. (1997) (28)
In search of the soluble (1992) (28)
Commentary: understanding sources of complexity in chronic diseases--the importance of integration of genetics and epidemiology. (2006) (28)
Multi-infarct dementia of Swedish type is caused by a 3'UTR mutation of COL4A1. (2017) (28)
ApoE ϵ3‐haplotype modulates Alzheimer beta‐amyloid deposition in the brain (2002) (28)
A nonsense mutation in PRNP associated with clinical Alzheimer's disease (2014) (28)
Polygenic risk score in postmortem diagnosed sporadic early-onset Alzheimer's disease (2018) (28)
Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis (2021) (27)
Interleukin-1A polymorphism is not associated with late onset Alzheimer's disease (2002) (27)
The human brainome: network analysis identifies HSPA2 as a novel Alzheimer’s disease target (2018) (27)
Tau acts as an independent genetic risk factor in pathologically proven PD (2012) (27)
TOMM40 association with Alzheimer disease: tales of APOE and linkage disequilibrium. (2012) (27)
Association of the Tau haplotype with Parkinson's disease in the Greek population (2006) (27)
Influence of Coding Variability in APP-Aβ Metabolism Genes in Sporadic Alzheimer’s Disease (2016) (27)
Presenilin mutations line up along transmembrane alpha-helices. (2001) (27)
An association study of the cholesteryl ester transfer protein TaqI B polymorphism with late onset Alzheimer's disease (2004) (26)
Catecholamine topochemistry in human basal ganglia. Comparison between normal and Alzheimer brains (1985) (26)
Progress in the Genetic Analysis of Parkinson's Disease. (2019) (26)
Author Correction: Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing (2019) (26)
α-T-catenin is expressed in human brain and interacts with the Wnt signaling pathway but is not responsible for linkage to chromosome 10 in Alzheimer’s disease (2007) (26)
Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology (2021) (26)
PRESENILE DEMENTIA ASSOCIATED WITH MOSAIC TRISOMY 21 IN A PATIENT WITH A DOWN SYNDROME CHILD (1989) (26)
Neurofibrillary tau pathology modulated by genetic variation of α‐synuclein (2008) (26)
Evidence of a founder effect in families with frontotemporal dementia that harbor the tau +16 splice mutation (2004) (26)
Variation in Recent Onset Parkinson’s Disease: Implications for Prodromal Detection (2016) (26)
Evidence for the presence of antibodies to cholinergic neurons in the serum of patients with Alzheimer's disease (1987) (26)
Insights into TREM 2 biology by network analysis of human brain gene expression data (2013) (26)
The pallidopyramidal syndromes: nosology, aetiology and pathogenesis (2013) (25)
AD-linked R47H-TREM2 mutation induces disease-enhancing microglial states via AKT hyperactivation (2021) (25)
Segmental uniparental isodisomy on 5q32-qter in a patient with childhood-onset schizophrenia (2006) (25)
A kindred with Parkinson’s disease not showing genetic linkage to established loci (2000) (25)
Analysis of neurodegenerative disease-causing genes in dementia with Lewy bodies (2020) (25)
SORL1 deficiency in human excitatory neurons causes APP-dependent defects in the endolysosome-autophagy network (2021) (25)
Variation in the urokinase‐plasminogen activator gene does not explain the chromosome 10 linkage signal for late onset AD (2004) (25)
The CACNA1B R1389H variant is not associated with myoclonus-dystonia in a large European multicentric cohort (2015) (25)
Alpha-T-catenin is expressed in human brain and interacts with the Wnt signaling pathway but is not responsible for linkage to chromosome 10 in Alzheimer's disease. (2004) (25)
Heritability Enrichment Implicates Microglia in Parkinson’s Disease Pathogenesis (2020) (25)
Heritability and genetic variance of dementia with Lewy bodies (2018) (25)
Evidence for Allelic Heterogeneity in Familial Early-Onset Alzheimer's Disease (1991) (25)
Gene co-expression networks shed light into diseases of brain iron accumulation (2016) (24)
Profilin1 E117G is a moderate risk factor for amyotrophic lateral sclerosis (2013) (24)
Genetic testing in familial and young-onset Alzheimer's disease: mutation spectrum in a Serbian cohort (2012) (24)
ApoE2 Allele, Down's Syndrome, and Dementia a (1996) (24)
Gene-based analysis in HRC imputed genome wide association data identifies three novel genes for Alzheimer’s disease (2018) (24)
Expression of BRI-amyloid beta peptide fusion proteins: a novel method for specific high-level expression of amyloid beta peptides. (2001) (24)
Large‐scale plasma proteomic profiling identifies a high‐performance biomarker panel for Alzheimer's disease screening and staging (2021) (24)
Exome sequencing in a consanguineous family clinically diagnosed with early-onset Alzheimer's disease identifies a homozygous CTSF mutation (2016) (24)
A thorough assessment of benign genetic variability in GRN and MAPT (2010) (24)
No pathogenic mutations in the β-synuclein gene in Parkinson's disease (1999) (24)
Glutamate neurotoxicity and Alzheimer's disease (1987) (24)
Apolipoprotein E genotype does not affect the age of onset of dementia in families with defined tau mutations (1999) (23)
Young‐onset parkinsonism due to homozygous duplication of α‐synuclein in a consanguineous family (2012) (23)
Genome-wide association study of neocortical Lewy-related pathology (2015) (23)
APH1, PEN2, and Nicastrin increase Abeta levels and gamma-secretase activity. (2003) (23)
Association of Integrin α2 Gene Variants with Ischemic Stroke (2008) (23)
A consanguineous Turkish family with early‐onset Parkinson's disease and an exon 4 parkin deletion (2004) (23)
Lack of aggregation of ischemic stroke subtypes within affected sibling pairs (2007) (23)
Frontotemporal Dementia: From Mendelian Genetics Towards Genome Wide Association Studies (2011) (23)
Alzheimer's disease: Molecular genetics and transgenic animal models (1993) (23)
Incomplete annotation has a disproportionate impact on our understanding of Mendelian and complex neurogenetic disorders (2020) (23)
What Is a Schizophrenic Mouse? (2007) (23)
Use of post-mortem human synaptosomes for studies of metabolism and transmitter amino acid release (1982) (23)
Analysis of the genetic variability in Parkinson's disease from Southern Spain (2016) (23)
Ex vivo release of GABA from tetanus toxin-induced chronic epileptic foci decreased during the active seizure phase (1991) (22)
CONFIRMATION THAT THE APOLIPOPROTEIN E4 ALLELE IS ASSOCIATED WITH LATE-ONSET, FAMILIAL ALZHEIMERS-DISEASE (1993) (22)
Concomitant progressive supranuclear palsy and chronic traumatic encephalopathy in a boxer (2014) (22)
199 years of Parkinson disease – what have we learned and what is the path to the future? (2016) (22)
Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study (2022) (22)
Investigation of Autosomal Genetic Sex Differences in Parkinson's Disease (2021) (22)
Investigation of Autosomal Genetic Sex Differences in Parkinson's Disease (2021) (22)
Kohlschütter–Tönz Syndrome: Mutations in ROGDI and Evidence of Genetic Heterogeneity (2013) (22)
No association between the lipoprotein lipase S447X polymorphism and Alzheimer's disease (2002) (22)
The Relationship between Lewy Body Disease, Parkinson's Disease, and Alzheimer's Disease (2003) (22)
Loss of PLA 2 G 6 leads to elevated mitochondrial lipid peroxidation and mitochondrial dysfunction (2015) (22)
Assessment of Parkinson's disease risk loci in Greece (2014) (22)
Neurodegenerative disease: a different view of diagnosis. (1999) (21)
Faculty Opinions recommendation of SCA-2 presenting as parkinsonism in an Alberta family: clinical, genetic, and PET findings. (2002) (21)
RANTing about C9orf72 (2013) (21)
Identification of sixteen novel candidate genes for late onset Parkinson’s disease (2021) (21)
No pathogenic mutations in the persyn gene in Parkinson's disease (1999) (21)
Microglial signalling pathway deficits associated with the patient derived R47H TREM2 variants linked to AD indicate inability to activate inflammasome (2021) (21)
Defining the ends of Parkin exon 4 deletions in two different families with Parkinson's disease (2005) (21)
Neuropathological features of genetically confirmed DYT1 dystonia: investigating disease-specific inclusions (2014) (21)
Corrigendum to Using genome-wide complex trait analysis to quantify 'missing heritability' in parkinson's disease [Human Molecular Genetics, 21: 22 (2012) 4996-5009] doi: 10.1093/hmg/dds335] (2013) (21)
Dissecting the Phenotype and Genotype of PLA2G6‐Related Parkinsonism (2021) (21)
Association of integrin alpha2 gene variants with ischemic stroke. (2008) (21)
Using genome-wide complex trait analysis to quantify 'missing heritability' in Parkinsons disease (vol 22, pg 1696, 2013) (2013) (21)
The genetic causes of neurodegenerative diseases. (2001) (21)
Novel Missense Mutation in Charged Multivesicular Body Protein 2B in a Patient With Frontotemporal Dementia (2010) (21)
Cooperative Genome-Wide Analysis Shows Increased Homozygosity in Early Onset Parkinson's Disease (2012) (21)
Genetic Analysis of Synphilin-1 in Familial Parkinson's Disease (2001) (21)
Assessment of a DJ-1 (PARK7) polymorphism in Finnish PD (2003) (21)
Mutation analysis of sporadic early-onset Alzheimer's disease using the NeuroX array (2017) (21)
Ethnic Differences and Disease Phenotypes (2003) (21)
Identical Twins with Leucine Rich Repeat Kinase Type 2 Mutations Discordant for Parkinson's Disease (2012) (21)
Framing beta-amyloid. (1992) (21)
Rare variants analysis of cutaneous malignant melanoma genes in Parkinson's disease (2016) (20)
Case‐control study of estrogen receptor gene polymorphisms in Parkinson's disease (2002) (20)
The human sideroflexin 5 (SFXN5) gene: sequence, expression analysis and exclusion as a candidate for PARK3. (2002) (20)
Release of Aspartate and Glutamate Caused by Chloride Reduction in Synaptosomal Incubation Media (1984) (20)
RFC1-related ataxia is a mimic of early multiple system atrophy (2021) (20)
Pathology of PD in monozygotic twins with a 20-year discordance interval (2001) (20)
Association of the dihydrolipoamide dehydrogenase gene with Alzheimer's disease in an Ashkenazi Jewish population (2004) (20)
Mutation Frequency of the Major Frontotemporal Dementia Genes, MAPT, GRN and C9ORF72 in a Turkish Cohort of Dementia Patients (2016) (20)
Blood brain barrier in ageing and Alzheimer's disease (1988) (20)
Degradation of luteinizing hormone-releasing hormone by serum and plasma in vitro (1981) (20)
The shorter amyloid cascade hypothesis. (1999) (19)
Alpha-2 macroglobulin gene and Alzheimer disease. (1999) (19)
A novel A781V mutation in the CSF1R gene causes hereditary diffuse leucoencephalopathy with axonal spheroids☆ (2013) (19)
A new presenilin Alzheimer’s disease case confirms the helical alignment of pathogenic mutations in transmembrane domain 5 (2004) (19)
Truncated presenilin 2 derived from differentially spliced mRNAs does not affect the ratio of amyloid β‐peptide 1‐42/1‐40 (1998) (19)
Parkinson's disease in Ireland: Clinical presentation and genetic heterogeneity in patients with parkin mutations (2004) (19)
Metabolic and secretory processes in nerve-endings isolated from post-mortem brain (1979) (19)
Epigenetic mechanisms in Alzheimer's disease: progress but much to do (2011) (19)
The Birth of the Modern Era of Parkinson’s Disease Genetics (2017) (19)
MIR-NATs repress MAPT translation and aid proteostasis in neurodegeneration (2021) (19)
Familial Clustering of Stroke According to Proband Age at Onset of Presenting Ischemic Stroke (2003) (19)
PINOT: an intuitive resource for integrating protein-protein interactions (2019) (19)
Smell testing is abnormal in 'lubag' or X-linked dystonia-parkinsonism: a pilot study. (2004) (19)
APOE and AβPP gene variation in cortical and cerebrovascular amyloid-β pathology and Alzheimer's disease: a population-based analysis. (2011) (19)
Erratum to: Identification of novel CSF biomarkers for neurodegeneration and their validation by a high-throughput multiplexed targeted proteomic assay (2016) (19)
Multi-modality machine learning predicting Parkinson’s disease (2021) (19)
Knock-in models related to Alzheimer’s disease: synaptic transmission, plaques and the role of microglia (2021) (18)
Genetic variability in response to Aβ deposition influences Alzheimer’s risk (2018) (18)
Parkinson's disease: A broken nosology (2005) (18)
No evidence that extended tracts of homozygosity are associated with Alzheimer's disease (2011) (18)
Sequence analysis of all identified open reading frames on the frontal temporal dementia haplotype on chromosome 3 fails to identify unique coding variants except in CHMP2B (2006) (18)
Alzheimer's disease. Clinical molecular genetics. (1994) (18)
DYT6 Dystonia: A Neuropathological Study (2015) (18)
Using the Gene Ontology to Annotate Key Players in Parkinson’s Disease (2016) (18)
Analysis of DNM3 and VAMP4 as genetic modifiers of LRRK2 Parkinson’s disease (2019) (18)
Association of phosphodiesterase 4D gene G0 haplotype and ischaemic stroke in a Greek population (2007) (18)
Impact of genetic analysis on Parkinson's disease research (2003) (18)
The Presenilin 1 C92S Mutation Increases Aβ 42 Production (2000) (18)
Is the MC1R variant p.R160W associated with Parkinson's? (2016) (18)
Genetic and polygenic risk score analysis for Alzheimer's disease in the Chinese population (2020) (18)
Insulin-Degrading Enzyme Haplotypes Affect Insulin Levels but Not Dementia Risk (2007) (18)
Alzheimer's disease: Genetic evidence points to a single pathogenesis (2003) (18)
Genome-wide association studies for Alzheimer’s disease: bigger is not always better (2022) (18)
CHCHD2 and Parkinson's disease (2015) (18)
Lewy bodies in Alzheimer's disease in which the primary lesion is a mutation in the amyloid precursor protein (1994) (18)
PINK1 in mitochondrial function (2008) (17)
Molecular genetics of Alzheimer's disease (1996) (17)
Establishing the role of rare coding variants in known Parkinson's disease risk loci (2017) (17)
ApoE epsilon3-haplotype modulates Alzheimer beta-amyloid deposition in the brain. (2002) (17)
Psychiatric Disorder Criteria and their Application to Research in Different Racial Groups (2007) (17)
The architecture of the tau haplotype block in different ethnicities (2005) (17)
The association of circulating amylin with β‐amyloid in familial Alzheimer's disease (2021) (17)
ApoE, amyloid, and Alzheimer's disease. (1994) (17)
Amyotrophic Lateral Sclerosis: An Emerging Era of Collaborative Gene Discovery (2007) (16)
Peritoneal inclusion cysts in adolescent females: a clinicopathological characterization of four cases. (2009) (16)
Advances in Gene Technology: Molecular biology of the endocrine system (1987) (16)
Identification of Stk25 as a Genetic Modifier of Tau Phosphorylation in Dab1-Mutant Mice (2012) (16)
Parkinson disease age of onset GWAS: defining heritability, genetic loci and a-synuclein mechanisms (2018) (16)
THAP1 mutations in a Greek primary blepharospasm series. (2013) (16)
Do tetrahydroaminoacridine (THA) and physostigmine restore acetylcholine release in Alzheimer brains via nicotinic receptors? (2005) (16)
L-dopa slows the progression of familial parkinsonism (1999) (16)
Autoimmunity to cholinergic‐specific antigens of the brain in senile dementia of the Alzheimer's type (1988) (16)
Genetic analysis in neurology: the next 10 years. (2013) (16)
Expression of mBRI2 in mice (2003) (16)
A comprehensive screening of copy number variability in dementia with Lewy bodies (2019) (16)
Mutation at the SCA17 locus is not a common cause of parkinsonism. (2003) (16)
Prion dimers: a deadly duo (1991) (16)
A comprehensive assessment of benign genetic variability for neurodegenerative disorders (2018) (15)
Missense variant in TREML 2 protects against Alzheimer ’ s Disease (2013) (15)
Regional and Subcellular Distribution of Thy‐1 in Human Brain Assayed by a Solid‐Phase Radioimmunoassay (1986) (15)
Genomic Risk Profiling of Ischemic Stroke: Results of an International Genome-Wide Association Meta-Analysis (2011) (15)
Case‐control study of the α‐synuclein interacting protein gene and Parkinson's disease (2003) (15)
Parkin-proven disease (2003) (15)
An AARS variant as the likely cause of Swedish type hereditary diffuse leukoencephalopathy with spheroids (2019) (15)
Clusterin as an Alzheimer biomarker. (2011) (15)
A familial frontotemporal dementia associated with C9orf72 repeat expansion and dysplastic gangliocytoma (2014) (15)
Genes, pathways and risk prediction in Alzheimer's disease. (2019) (15)
A Case of Dementia With PRNP D178Ncis-129M and No Insomnia (2009) (15)
Gaucher and Parkinson diseases (2008) (15)
Biomedicine - Toxic proteins in neurodegenerative disease (2002) (15)
Alzheimer disease: the new agenda. (1992) (15)
Homozygosity analysis in amyotrophic lateral sclerosis (2013) (14)
Apolipoprotein E alleles but neither apolipoprotein B nor apolipoprotein AI/CIII alleles are associated with late onset, familial Alzheimer's disease (1995) (14)
Exome sequencing expands the mutational spectrum of SPG8 in a family with spasticity responsive to l-DOPA treatment (2013) (14)
Quality control parameters on a large dataset of regionally dissected human control brains for whole genome expression studies (2012) (14)
HLA-DRB*1501 associations with magnetic resonance imaging measures of grey matter pathology in multiple sclerosis. (2016) (14)
The Parkinson’s Disease Mendelian Randomization Research Portal (2019) (14)
Apolipoprotein E and Intellectual Achievement (2002) (14)
Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information (2020) (14)
Soluble Fibrinogen Triggers Non-cell Autonomous ER Stress-Mediated Microglial-Induced Neurotoxicity (2018) (14)
APOLIPOPROTEIN-E GENOTYPE AND ALZHEIMERS-DISEASE (1993) (14)
Microarray analysis reveals induction of heat shock proteins mRNAs by the torsion dystonia protein, TorsinA (2003) (14)
Genetic dissection of primary neurodegenerative diseases. (2001) (14)
Mouse model made (1995) (14)
Cross-platform transcriptional profiling identifies common and distinct molecular pathologies in Lewy body diseases (2021) (14)
Characterisation of Na+‐Independent L‐[3H]Glutamate Binding Sites in Human Temporal Cortex (1988) (14)
mTOR independent alteration in ULK1 Ser758 phosphorylation following chronic LRRK2 kinase inhibition (2018) (14)
Familial Lund frontotemporal dementia caused by C9ORF72 hexanucleotide expansion (2012) (14)
Sequencing analysis of the ITPR1 gene in a pure autosomal dominant spinocerebellar ataxia series (2010) (14)
Alteration in brain presenilin 1 mRNA expression in early onset familial Alzheimer's disease. (1996) (13)
A family with a tau P301L mutation presenting with parkinsonism. (2002) (13)
Annexin A5 prevents amyloid-β-induced toxicity in choroid plexus: implication for Alzheimer’s disease (2020) (13)
Possible association between genetic variability at the apolipoprotein(a) locus and Alzheimer's disease in apolipoprotein E2 carriers (2002) (13)
LRP10 in α-synucleinopathies (2018) (13)
Common BACE2 Polymorphisms are Associated with Altered Risk for Alzheimer’s Disease and CSF Amyloid Biomarkers in APOE ε4 Non-Carriers (2019) (13)
Inconsistent designs of association studies: a missed opportunity (2003) (13)
Fulminant corticobasal degeneration: a distinct variant with predominant neuronal tau aggregates (2020) (13)
Protein network analysis reveals selectively vulnerable regions and biological processes in FTD (2018) (13)
Polygenic risk scores for Alzheimer's disease are related to dementia risk in APOE ɛ4 negatives (2021) (13)
Testing for Linkage and Association Across the Dihydrolipoyl Dehydrogenase Gene Region with Alzheimer’s Disease in Three Sample Populations (2007) (13)
Progranulin mutations and ALS or ALS-FTD phenotypes (2007) (12)
LINKAGE STUDY BETWEEN THE AMYLOID GENE AND FAMILIAL ALZHEIMERS-DISEASE (1987) (12)
Perspective: Finding common ground (2016) (12)
No evidence for tau duplications in frontal temporal dementia families showing genetic linkage to the tau locus in which tau mutations have not been found (2004) (12)
Plasma glial fibrillary acidic protein and neurofilament light chain, but not tau, are biomarkers of sports-related mild traumatic brain injury (2020) (12)
An Aged Canid with Behavioral Deficits Exhibits Blood and Cerebrospinal Fluid Amyloid Beta Oligomers (2018) (12)
Dementia with Lewy Bodies: Cytoskeletal and Alzheimer-type pathology in Lewy body disease (1996) (12)
L-dopa responsiveness in early Parkinson's disease is associated with the rate of motor progression. (2019) (12)
Erratum to “Polymorphisms in BACE2 may affect the age of onset Alzheimer's dementia in Down syndrome” [Neurobiol. Aging 35 (2014) 1513.e1–1513.e5] (2014) (12)
Problems and Solutions in the Genetic Analysis of Late-Onset Alzheimer’s Disease (2004) (12)
Whole genome expression as a quantitative trait. (2009) (12)
Polygenic Risk Scoring is an Effective Approach to Predict Those Individuals Most Likely to Decline Cognitively Due to Alzheimer’s Disease (2020) (12)
Characterizing the Relation Between Expression QTLs and Complex Traits: Exploring the Role of Tissue Specificity (2018) (12)
No pathogenic mutations in the beta-synuclein gene in Parkinson's disease. (1999) (12)
Differential Transmitter Release from Nerve Terminals Isolated from Basal Ganglia and Substantia Nigra (1980) (12)
LRP10 in α-synucleinopathies (2018) (12)
POTENTIAL ROLE OF CERAMIDE METABOLISM IN LEWY BODY DISEASE (2009) (11)
Abrogation of LRRK2 dependent Rab10 phosphorylation with TLR4 activation and alterations in evoked cytokine release in immune cells (2021) (11)
Parkinson's disease, but not Alzheimer's disease, Lewy body variant associated with mutant alleles at cytochrome P450 gene (1994) (11)
Familial Pick's disease and dementia in frontal lobe degeneration of non-Alzheimer type are not variants of prion disease. (1994) (11)
Unaltered α-synuclein blood levels in juvenile Parkinsonism with a parkin exon 4 deletion (2005) (11)
Utility of the new Movement Disorder Society clinical diagnostic criteria for Parkinson's disease applied retrospectively in a large cohort study of recent onset cases (2017) (11)
A comparison of high affinity synaptosomal uptake of d-aspartate in rat and human brain (1987) (11)
Pseudohypoparathyroidism type I‐b with neurological involvement is associated with a homozygous PTH1R mutation (2016) (11)
Action Myoclonus and Seizure in Kufor‐Rakeb Syndrome (2018) (11)
Does Abeta 42 have a function related to blood homeostasis? (2007) (11)
Integration of eQTL and Parkinson’s disease GWAS data implicates 11 disease genes (2019) (11)
Do heterozygous mutations of Niemann–Pick type C predispose to late-onset neurodegeneration: a review of the literature (2019) (11)
Membrane damage is at the core of Alzheimer's disease (2017) (11)
A multi-level developmental approach to exploring individual differences in Down syndrome: genes, brain, behaviour, and environment (2020) (11)
Peripheral GRN mRNA and Serum Progranulin Levels as a Potential Indicator for Both the Presence of Splice Site Mutations and Individuals at Risk for Frontotemporal Dementia. (2019) (11)
Case-control study of the alpha-synuclein interacting protein gene and Parkinson's disease. (2003) (11)
Plasma biomarkers and genetics in the diagnosis and prediction of Alzheimer’s disease (2022) (11)
The Future of Genetic Analysis of Neurological Disorders (2000) (11)
Interesting clinical features associated with mutations in the SLC20A2 gene (2012) (10)
Does APOE explain the linkage of Alzheimer's disease to chromosome 19q13? (2008) (10)
Modelling the occurrence and pathology of Alzheimer's disease (1989) (10)
Genetic characterization of a familial non-specific dementia originating in Jutland, Denmark (1993) (10)
A novel silent variant at codon 711 and a variant at codon 708 of the APP sequence detected in Spanish Alzheimer and control cases (1993) (10)
A novel candidate presenilin-1 interacting protein containing tetratricopeptide repeats. (1999) (10)
Behavioral Variant Frontotemporal Lobar Degeneration with Amyotrophic Lateral Sclerosis with a Chromosome 9p21 Hexanucleotide Repeat (2012) (10)
Smoking and neurogenerative diseases (1993) (10)
Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease (vol 41, pg 1088, 2009) (2013) (10)
The presenilin 1 C92S mutation increases abeta 42 production. (2000) (10)
A Phenotype of Atypical Apraxia of Speech in a Family Carrying SQSTM1 Mutation (2014) (10)
Amyloid precursor protein processing in human neurons with an allelic series of the PSEN1 intron 4 deletion mutation and total presenilin-1 knockout (2019) (10)
The b-Secretase BACE1 in Alzheimer’s Disease (2020) (10)
No definitive evidence for a role for the environment in the etiology of Parkinson's Disease (2006) (10)
Targeting APP metabolism for the treatment of Alzheimer's disease (2002) (10)
Characterisation and Validation of Insertions and Deletions in 173 Patient Exomes (2012) (9)
Catastrophic cliffs: a partial suggestion for selective vulnerability in neurodegenerative diseases. (2016) (9)
LRP10 in α-synucleinopathies (2018) (9)
Whole genome association studies: Deciding when persistence becomes perseveration (2008) (9)
Absence of linkage between chromosome 21 loci and familial amyotrophic lateral sclerosis. (1993) (9)
Frontal temporal dementia: dissecting the aetiology and pathogenesis. (2006) (9)
The role of presenilin 1 in the genetics of Alzheimer's disease. (1996) (9)
Review: Induced pluripotent stem cell models of frontotemporal dementia (2016) (9)
Personalized genetic assessment of age associated Alzheimer’s disease risk (2016) (9)
Genes and environment in psychiatry: winner's curse or cure? (2011) (9)
Parkin‐related disease clinically diagnosed as a pallido‐pyramidal syndrome (2009) (9)
A presenilin-1 mutation (T245P) in transmembrane domain 6 causes early onset Alzheimer's disease (2006) (9)
How many pathways are there to nigral death? (2004) (9)
Update on fluid biomarkers for concussion (2016) (9)
Analysis of ATP13A2 in large neurodegeneration with brain iron accumulation (NBIA) and dystonia-parkinsonism cohorts (2012) (9)
Antibodies in Serum of Patients with Alzheimer's Disease Cause Immunolysis of Cholinergic Nerve Terminals from the Rat Cerebral Cortex (1989) (9)
Gene Expression Imputation Across Multiple Tissue Types Provides Insight Into the Genetic Architecture of Frontotemporal Dementia and Its Clinical Subtypes (2021) (8)
Whole genome association analysis shows that ACE is a risk factor for Alzheimer's disease and fails to replicate most candidates from Meta-analysis. (2010) (8)
Construction of a detailed physical and transcript map of the FTDP-17 candidate region on chromosome 17q21. (1999) (8)
The uncertain anatomy of Alzheimer’s disease (2004) (8)
A Clinicopathologic Entity (2017) (8)
Genetic dissection of neurodegenerative disease (2001) (8)
Putting presenilins centre stage (2007) (8)
Genetic analysis suggests high misassignment rates in clinical Alzheimer's cases and controls (2019) (8)
Is amyloid plaque imaging the key to monitoring brain pathology of Alzheimer’s disease in vivo? (2004) (8)
Two new genes for Alzheimer's disease (1995) (8)
Novel GCH1 mutation in a Brazilian family with dopa‐responsive dystonia (2008) (8)
Using genome-Wwide complex trait analysis to quantify 'missing heritability' in Parkinson's disease (2012) (8)
Regulation of mitophagy by the NSL complex underlies genetic risk for Parkinson’s disease at Chr16q11.2 and on the MAPT H1 allele (2020) (8)
Molecular Aspects of Development and Aging of the Nervous System (1991) (8)
CoExp: A Web Tool for the Exploitation of Co-expression Networks (2021) (8)
Author Correction: Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer’s disease risk (2020) (8)
Prion genotypes in Central America suggest selection for the V129 allele (2006) (8)
The uptake of serotonin and dopamine by homogenates of frozen rat and human brain tissue (1985) (7)
Incomplete annotation has a disproportionate impact on our understanding of Mendelian and complex neurogenetic disorders (2020) (7)
Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into the complex genetic architecture (2020) (7)
Tangle Diseases and the Tau Haplotypes (2006) (7)
Identical non-identical twins and non-identical identical twins (2015) (7)
Genetic variants in glutamate-, Aβ−, and tau-related pathways determine polygenic risk for Alzheimer's disease (2020) (7)
Structural study of the microtubule-associated protein tau locus of Alzheimer′s disease in Taiwan (2014) (7)
Psychotic genes or forgetful ones? (2002) (7)
Genetic variation across RNA metabolism and cell death gene networks is implicated in the semantic variant of primary progressive aphasia (2019) (7)
A polymorphic dinucleotide repeat in intron 2 of the human cystatin-C gene. (1992) (7)
Genotyping of the Alzheimer's Disease Genome-Wide Association Study Index Single Nucleotide Polymorphisms in the Brains for Dementia Research Cohort. (2018) (7)
The real problem in association studies. (2002) (7)
Stem cell reprogramming: Basic implications and future perspective for movement disorders (2015) (7)
Distinct proteomic profiles in monozygotic twins discordant for ischaemic stroke (2019) (7)
Differential Associations of Apolipoprotein E ε4 Genotype With Attentional Abilities Across the Life Span of Individuals With Down Syndrome (2020) (7)
G2P: Using machine learning to understand and predict genes causing rare neurological disorders (2018) (7)
The HapMap: charting a course for genetic discovery in neurological diseases. (2008) (7)
CURRENT CONCEPTS Genomewide Association Studies and Human Disease (2009) (7)
Erratum: A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinson's disease [Human Molecular Genetics 22, 5, 2013, 1039-1049] doi:10.1093/hmg/dds492 (2014) (7)
A new way APP mismetabolism can lead to Alzheimer's disease (2011) (6)
TREM2-mediated activation of microglia breaks link between amyloid and tau (2021) (6)
Shared Genetics of Multiple System Atrophy and Inflammatory Bowel Disease (2020) (6)
A physical map of the human APP gene in YACs (1993) (6)
Linkage, whole genome sequence, and biological data implicate variants in RAB10 in Alzheimer’s disease resilience (2017) (6)
Unaltered alpha-synuclein blood levels in juvenile Parkinsonism with a parkin exon 4 deletion. (2005) (6)
REPORTING AND INTERPRETATION OF GENETIC VARIANTS IN CASES AND CONTROLS (2007) (6)
Alzheimer's disease. In search of the soluble. (1992) (6)
ANTIBODIES TO NON-AMYLOID COMPONENT OF PLAQUES (NACP) SPECIFICALLY LABEL LEWY BODIES AND LEWY NEURITES, BUT NOT OTHER INCLUSIONS IN NEURODEGENERATIVE DISEASES (1998) (6)
Web‐based assessment of Parkinson's prodromal markers identifies GBA variants (2015) (6)
Atypical Parkinsonism‐Dystonia Syndrome Caused by a Novel DJ1 Mutation (2014) (6)
Novel single base-pair deletion in exon 1 of XK gene leading to McLeod syndrome with chorea, muscle wasting, peripheral neuropathy, acanthocytosis and haemolysis (2014) (6)
Uptake of gamma-aminobutyric acid and glycine by synaptosomes from postmortem human brain. (1986) (6)
Alzheimer's disease. Mouse model made. (1995) (6)
Pathways to Primary Neurodegenerative Disease (2000) (6)
‘Slow virus’ dementias: prion gene holds the key (1989) (6)
Tendency towards being a “Morning person” increases risk of Parkinson’s disease: evidence from Mendelian randomisation (2018) (6)
SORL1 mutation in a Greek family with Parkinson's disease and dementia (2021) (6)
Genetics of dementia in a Finnish cohort (2018) (6)
X-linked dystonia ("Lubag") presenting predominantly with parkinsonism: A more benign phenotype? (2002) (6)
Exome sequencing identifies three novel AD‐associated genes (2020) (6)
Neurodegeneration: the first mechanistic therapy and other progress in 2017 (2018) (6)
White matter abnormalities in active elite adult rugby players (2021) (6)
Genome-wide screen for stroke: Pilot testing in the Siblings With Ischemic Stroke Study (SWISS) (2000) (6)
Taiwanese cases of SCA2 are derived from a single founder (2005) (6)
Absence of linkage disequilibrium at amyloid precursor protein gene locus in Japanese familia Alzheimer's disease with 717Val→Ile mutation (1993) (6)
Informing disease modelling with brain-relevant functional genomic annotations (2019) (5)
Regulatory sites for known and novel splicing in human basal ganglia are enriched for disease-relevant information (2019) (5)
TETRAHYDROAMINOACRIDINE AND ALZHEIMER'S DISEASE (1987) (5)
The 'amyloid cascade hypothesis' of AD: decoy or real McCoy? Reply (1997) (5)
Protein Deimination in Protein Misfolding Disorders: Modeled in Human Induced Pluripotent Stem Cells (iPSCs) (2017) (5)
REGION-SPECIFIC DEFECTS IN GLUTAMATE AND GAMMA-AMINOBUTYRIC-ACID INNERVATION IN ALZHEIMERS-DISEASE (1987) (5)
A blood-based gene expression and signaling pathway analysis to differentiate between high and low grade gliomas (2016) (5)
correction: Aβ peptide vaccination prevents memory loss in an animal model of Alzheimer's disease (2001) (5)
Diabetes and Alzheimer's disease: shared genetic susceptibility? (2022) (5)
Mutations in TYROBP are not a common cause of dementia in a Turkish cohort (2017) (5)
Spastic paraplegia preceding PSEN1‐related familial Alzheimer's disease (2021) (5)
Integrating protein networks and machine learning for disease stratification in the Hereditary Spastic Paraplegias (2021) (5)
Screening for C 9 ORF 72 repeat expansion in FTLD (2013) (5)
The influence of the R47H TREM2 variant on microglial exosome profiles (2021) (5)
Exome sequencing identifies rare damaging variants in the ATP8B4 and ABCA1 genes as novel risk factors for Alzheimer’s Disease (2020) (5)
Parietal lobe deficits are a feature of frontotemporal lobar degeneration caused by a mutation in the progranulin gene (2007) (5)
Correction to: Linkage, whole genome sequence, and biological data implicate variants in RAB10 in Alzheimer’s disease resilience (2018) (5)
Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer’s disease (2022) (5)
Exclusion of genetic linkage to 4q21-23 and 17q21 in a family with Lewy body parkinsonism. (1998) (5)
Correlation of proband and sibling stroke latency: The SWISS Study (2005) (5)
An IL1RL1 genetic variant lowers soluble ST2 levels and the risk effects of APOE-ε4 in female patients with Alzheimer’s disease (2022) (5)
Down on chromosome 21? (1989) (5)
The search for an amyloid solution - Response (2002) (5)
Amino acid transport by synaptosomes isolated from post mortem human brain (2005) (5)
Common variation at the LRRK2 locus is associated with survival in the primary tauopathy progressive supranuclear palsy (2020) (5)
Alzheimer’s Disease and Chromosome 21 (1989) (4)
C9orf72, age at onset, and ancestry help discriminate behavioral from language variants in FTLD cohorts (2020) (4)
Is SIGMAR1 a confirmed FTD/MND gene? (2015) (4)
Sequence of cognitive changes associated with development of Alzheimer's disease in Down syndrome - data driven analysis (2018) (4)
Correction: Immune-related genetic enrichment in frontotemporal dementia: An analysis of genome-wide association studies (2018) (4)
Dissecting the limited genetic overlap of Parkinson's and Alzheimer's disease (2022) (4)
Identifying genetic factors in Parkinson disease. (2002) (4)
STABILITY OF BRAIN-RNA POSTMORTEM - EFFECT OF ALZHEIMERS-DISEASE (1987) (4)
AD-linked R47H-TREM2 mutation induces disease-enhancing proinflammatory microglial states in mice and humans (2020) (4)
Heterogeneity in Alzheimer's disease. (1993) (4)
Combining biomarkers for prognostic modelling of Parkinson’s disease (2022) (4)
Molecular biology and Alzheimer's disease: more questions than answers (1988) (4)
Race, genetics, and medicine at a crossroads (2008) (4)
Effects of Multiple Genetic Loci on Age at Onset in Frontotemporal Dementia. (2016) (4)
Differential Stimulation of Pluripotent Stem Cell-Derived Human Microglia Leads to Exosomal Proteomic Changes Affecting Neurons (2021) (4)
The Amyloid Hypothesis: history and alternatives (2006) (4)
Correction: Alzheimer’s disease polygenic risk score as a predictor of conversion from mild-cognitive impairment (2019) (4)
Reply: Parkinson’s disease in GTP cyclohydrolase 1 mutation carriers (2014) (4)
An integrated genomic approach to dissect the genetic landscape regulating the cell-to-cell transfer of α-synuclein (2019) (4)
Reducing β-Amyloid by Inhibition of BACE1: How Low Should You Go? (2015) (4)
Erratum to “Polymorphisms in BACE2 may affect the age of onset Alzheimer's dementia in Down syndrome” [Neurobiol. Aging 35 (2014) 1513.e1–1513.e5] (2014) (4)
Alzheimer‐like pathology in trisomy 21 cerebral organoids amenable to pharmacological inhibition reveals BACE2 as a gene‐dose‐sensitive AD‐suppressor in human brain (2020) (4)
Novel pathogenic mutations in the glucocerebrosidase locus (2012) (4)
GNAL mutations and dystonia. (2014) (4)
Regulation of mitophagy by the NSL complex underlies genetic risk for Parkinson’s disease at 16q11.2 and MAPT H1 loci (2022) (4)
Bad luck: An unappreciated limitation in the interpretation of twin studies (2006) (4)
P3-213: Genetic screening in a large cohort of early-onset Alzheimer's disease patients from Spain: Novel mutations in the amyloid precursor protein and presenilines (2008) (4)
Expression of mBRI(2) in mice (2003) (4)
Increased cerebrospinal fluid soluble TREM2 concentration in Alzheimer’s disease (2016) (4)
Aβ efflux impairment and inflammation linked to cerebrovascular accumulation of amyloid-forming amylin secreted from pancreas (2023) (4)
Alzheimer's disease: the present situation and our tasks (1994) (4)
Genetic Characterization of a Novel Familial Dementia (1991) (4)
Failures in Protein Clearance Partly Underlie Late Onset Neurodegenerative Diseases and Link Pathology to Genetic Risk (2019) (4)
The risk of developing Alzheimer's disease associated with the APOE promoter polymorphisms (1999) (4)
Genotypic analysis of gene expression in the dissection of the aetiology of complex neurological and psychiatric diseases. (2009) (3)
Pathways to Alzheimer's disease and other neurodegenerative diseases (2016) (3)
Incomplete annotation of OMIM genes is likely to be limiting the diagnostic yield of genetic testing, particularly for neurogenetic disorders (2018) (3)
The Genetics of Alzheimer's Disease and Other Tauopathies (2011) (3)
A high‐performance biomarker panel for Alzheimer’s disease screening and staging identified by large‐scale plasma proteomic profiling (2021) (3)
Genetics of Alzheimer’s Disease and Related Disorders (2004) (3)
Further analysis of previously implicated linkage regions for Alzheimer's disease in affected relative pairs (2009) (3)
Low prevalence of PANK2 mutations in Brazilian patients with early onset generalised dystonia and basal ganglia abnormalities on MRI (2010) (3)
Genome-Wide Association Study for Alzheimer's Disease Risk in a Large Cohort Of Clinically Characterized And Neuropathologically Verified Subjects (2010) (3)
Psychiatric genetics: are we there yet? (2013) (3)
Multi‐Omics‐Based Autophagy‐Related Untypical Subtypes in Patients with Cerebral Amyloid Pathology (2022) (3)
Faculty Opinions recommendation of The importance of gene dosage studies: mutational analysis of the parkin gene in early-onset parkinsonism. (2001) (3)
Identification of Alzheimer risk factors through whole-genome analysis. (2010) (3)
Frontal lobe or `nonspecific' dementias are genetically heterogeneous (1995) (3)
Microglial signalling pathway deficits associated with the R47H TREM2 variant linked to AD indicate inability to activate inflammasome (2020) (3)
Mendelian randomization implies no direct causal association between leukocyte telomere length and amyotrophic lateral sclerosis (2020) (3)
Pseudogenes limit the identification of novel common transcripts generated by their parent genes (2022) (3)
Genetic effects on longitudinal cognitive decline during the early stages of Alzheimer’s disease (2021) (3)
A glimpse of the genetics of young‐onset Parkinson’s disease in Central Asia (2021) (3)
Measuring heritable contributions to Alzheimer’s disease: polygenic risk score analysis with twins (2022) (3)
Degradation of CCK-8 by rat synaptosomal peptidases (1982) (3)
"Prion dementia" (1993) (3)
Abstracts of the 110 th meeting of the British Neuropathological Society (2008) (3)
PRION DEMENTIA . REPLY (1993) (3)
Genetic risk factors for posterior cortical atrophy (2015) (3)
P1-348 Early onset familial Alzheimer’s disease: First Portuguese cases (2006) (3)
Discovery and functional prioritization of Parkinson’s disease candidate genes from large-scale whole exome sequencing (2017) (3)
Elevation of gangliosides in four brain regions from Parkinson’s disease patients with a GBA mutation (2022) (3)
Elevated γ-Glutamyltransferase and Erythrocyte Sedimentation Rate in Ischemic Stroke in Discordant Monozygotic Twin Study (2015) (3)
PARKIN DISEASE–A CLINICOPATHOLOGICAL ENTITY? (2013) (3)
RFC 1-related ataxia is a mimic of early multiple system atrophy (2021) (3)
Human-lineage-specific genomic elements are associated with neurodegenerative disease and APOE transcript usage (2021) (3)
Dementia with Lewy bodies: no association of polymorphisms in the human synphilin gene (2004) (3)
Common polygenic variation can predict risk of Alzheimer ’ s disease (2016) (3)
Correction: Patient-specific Alzheimer-like pathology in trisomy 21 cerebral organoids reveals BACE2 as a gene dose-sensitive AD suppressor in human brain (2021) (3)
Dissecting the familial risk of multiple sclerosis (2011) (3)
Correction: Patient-specific Alzheimer-like pathology in trisomy 21 cerebral organoids reveals BACE2 as a gene dose-sensitive AD suppressor in human brain (2021) (3)
Genetic Variants and Related Biomarkers in Sporadic Alzheimer’s Disease (2014) (3)
Corrigendum to “Assessment of common variability and expression quantitative trait loci for genome-wide associations for progressive supranuclear palsy.” [Neurobiol. Aging 35 (2014) 1514.e1–1514.e12] (2015) (3)
Fibrillation and molecular characteristics are coherent with clinical and pathological features of 4-repeat tauopathy caused by MAPT variant G273R (2020) (2)
The Genetic Aetiology of Alzheimer's Disease (1989) (2)
Mouse models of human neurogenetic disorders (1988) (2)
TREM2 variants as a possible cause of frontotemporal dementia with distinct neuroimaging features (2021) (2)
SEQUENCE OF COGNITIVE DECLINE IN ADULTS WITH DOWN SYNDROME DURING PROGRESSION FROM PRECLINICAL TO PRODROMAL ALZHEIMER'S DISEASE (2018) (2)
The neuroimaging phenotype of frontotemporal dementia with the C9ORF72 hexanucletoide repeat expansion (2012) (2)
Further evidence for a chromosome 4p haplotype segregating with Parkinson's disease in an independent Italian kindred. (1999) (2)
Amyloid Deposition as the Central Event in the Etiology and Pathogenesis of Alzheimer’s Disease (1994) (2)
Author Correction: Susceptible genes and disease mechanisms identified in frontotemporal dementia and frontotemporal dementia with Amyotrophic Lateral Sclerosis by DNA-methylation and GWAS (2018) (2)
The East Asian Parkinson Disease Genomics Consortium (2021) (2)
The importance of altered structural proteins in the pathogenesis of Alzheimer's disease (1986) (2)
Insights into the Influence of Specific Splicing Events on the Structural Organization of LRRK2 (2018) (2)
Neurotransmitter Function in Post-Mortem Human Brain: An Overview (1990) (2)
A simple and efficient algorithm for genome-wide homozygosity analysis in disease (2009) (2)
Deep geno- and phenotyping in two consanguineous families with CMT2 reveals HADHA as an unusual disease-causing gene and an intronic variant in GDAP1 as an unusual mutation (2020) (2)
PhenoExam: an R package and Web application for the examination of phenotypes linked to genes and gene sets (2021) (2)
Neurodegeneration and Dementia (2008) (2)
Clinical and Pathologic Features of Chromosome 21‐Linked Familial Alzheimer's Disease (1991) (2)
Correction: Inhibition of GSK-3 Ameliorates Aβ Pathology in an Adult-Onset Drosophila Model of Alzheimer's Disease (2012) (2)
Exome sequencing identifies rare damaging variants in the ATB8B4 and ABCA1 genes as novel risk factors for Alzheimer’s disease (2021) (2)
Pathogenic LRRK 2 mutations do not alter gene expression in cell model systems or human brain tissue (2017) (2)
Synucleinopathy with a G51D a-synuclein mutation: a neuropathological and genetic study (2013) (2)
Plaque contact and unimpaired Trem2 is required for the microglial response to amyloid pathology. (2022) (2)
The ignoble art (2013) (2)
Alzheimer's — a correction (1992) (2)
The relationship between nosology, etiology and pathogenesis in neurodegenerative diseases. (2008) (2)
Response to the commentary of Yates RL and DeLuca GC on the study: HLA-DRB1*1501 associations with magnetic resonance imaging measures of grey matter pathology in multiple sclerosis. (2016) (2)
Clinical features and changing patterns of neurodegenerative disorders on Guam, 1997-2000. (2002) (2)
Community‐based genetic study of Parkinson's disease in Estonia (2020) (2)
Genetic Variability and Alzheimer’s Disease (1994) (2)
FAMILIAL DEMENTIA IN RELATION TO THE 144 BP INSERT AND ITS IMPLICATIONS (1992) (2)
CSF biomarkers for Alzheimer's pathology and the effect size of APOE-ε4 (2013) (2)
Dopamine and apomorphine do not modulate the uptake of [3H]D‐aspartate in the rat striatum in‐vitro (1988) (2)
P3-157 A MAPT mutation in a regulatory element upstream of exon 10 causes frontotemporal dementia (2006) (2)
Modeling multifunctionality of genes with secondary gene co-expression networks in human brain provides novel disease insights (2020) (2)
Large-scale Rare Variant Burden Testing in Parkinson's Disease Identifies Novel Associations with Genes Involved in Neuro-inflammation (2022) (2)
Correction: Genetic Evidence Implicates the Immune System and Cholesterol Metabolism in the Aetiology of Alzheimer's Disease (2011) (2)
P3-279: A novel progranulin mutation in a large frontotemporal dementia calabrian kindred (2008) (2)
Association of ABCA 1 with late-onset Alzheimer ' s disease is not observed in a case-control study (2016) (2)
Screening for PS1 mutations in a referral-based late-onset AD cases in Saudi Arabia (2003) (2)
Mutations in the GCH1 Gene Are Associated with Parkinson Disease (S17.001) (2014) (1)
Alzheimer's disease. Molecular genetics. (1994) (1)
Molecular nexopathies: a new paradigm of neurodegenerative (2013) (1)
Endo-lysosomal proteins and ubiquitin CSF concentrations in Alzheimer’s and Parkinson’s disease (2019) (1)
Human-lineage-specific genomic elements: relevance to neurodegenerative disease and APOE transcript usage (2020) (1)
KNOCKDOWN OF TREM2 EXPRESSION IN MICROGLIA: IMPLICATIONS FOR MIGRATION AND INFLAMMATION (2016) (1)
Therapeutic anti-amyloid β antibodies cause neuronal disturbances. (2022) (1)
Immune-related genetic enrichment in frontotemporal dementia (2017) (1)
Neuropathological features of genetically confirmed DYT1 dystonia: investigating disease-specific inclusions (2014) (1)
A pathological genotype-phenotype study of four neuroaxonal dystrophy cases with PLA2G6 mutations (2009) (1)
Deletions at 22q11.2 in idiopathic Parkinson's disease: A combined analysis of GWAS data (2016) (1)
SORL1‐variant carriers in ADES‐ADSP: A higher level of variant pathogenicity associates with earlier age at onset of Alzheimer's disease (2020) (1)
P3-161 Increased MAPT expression is associated with progressive supranuclear palsy (2006) (1)
Disentangling the interaction between amyloid and tau: where are we now? (2016) (1)
Is anything lying behind parkin heterozygous mutations (2012) (1)
Addendum “APH1, PEN2, and Nicastrin increase Aβ levels and γ-secretase activity” [Biochem. Biophys. Res. Commun. 305 (2003) 502–509] (2003) (1)
P4-066 Independent case-control confirmation of association of DLD with AD (2004) (1)
PLA2G6 as a locus for adult-onset dystonia-parkinsonism (2008) (1)
P1-331 Familiality and linkage analysis of behavioral symptoms and age at disease onset in late-onset Alzheimer’s disease (2006) (1)
Neurobiological markers of memory loss (1985) (1)
Deep learning methods improve polygenic risk analysis and prediction for Alzheimer’s disease (2021) (1)
11. Molecular genetics of Alzheimer's disease (1990) (1)
The genetics of amyotrophic lateral sclerosis (2009) (1)
Profiling the NOTCH2NLC GGC Repeat Expansion in Parkinson's Disease in the European Population (2022) (1)
Resource A Genome-wide Gene-Exp ression Analysis and Database in Transgenic Mice during Development of Amyloid or Tau Pathology Graphical (2015) (1)
P1-349 Genetic analysis of Portuguese patients with Alzheimer’s disease and frontotemporal dementia (2006) (1)
Genome‐Wide Analysis of Structural Variants in Parkinson Disease (2023) (1)
European research on Alzheimer's disease (1997) (1)
Author Correction: Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer’s disease risk (2020) (1)
Concomitant progressive supranuclear palsy and chronic traumatic encephalopathy in a boxer (2014) (1)
Stratification of candidate genes for Parkinson’s disease using weighted protein-protein interaction network analysis (2018) (1)
Neurological diagnoses identify molecular processes. (2010) (1)
Rapid Preparation of Nerve Ending Particles (synaptosomes) From Rat-Brain - Comparison with 2 Standard Methods (1981) (1)
Transcriptomic analysis of dystonia-associated genes reveals functional convergence within specific cell types and shared neurobiology with psychiatric disorders (2020) (1)
Genetics of Alzheimer’s Disease (1991) (1)
The H1c haplotype of the MAPT locus is associated with autopsy confirmed late onset Alzheimer’s disease (2005) (1)
Characterizing the Relation Between Expression QTLs and Complex Traits: Exploring the Role of Tissue Specificity (2018) (1)
Erratum: Complex relationship between Parkin mutations and Parkinson disease (American Journal of Medical Genetics-Neuropsychocetric (2002) 114-(584-591)) (2002) (1)
The neuroimaging phenotype of frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion (2012) (1)
John Hardy Problems on the Road to Therapeutics The Amyloid Hypothesis of Alzheimer ' s Disease : Progress and (2011) (1)
CHAPTER 2 – METABOLIC AND FUNCTIONAL STUDIES ON POST-MORTEM HUMAN BRAIN (1985) (1)
Immune-related genetic enrichment in frontotemporal dementia (2017) (1)
Chronic effects of inflammation on tauopathies (2023) (1)
Loss of Function of TREM2 Results in Cytoskeletal Malfunction in Microglia (2018) (1)
Engineered Cerebral Organoids Recapitulate Adult Tau Expression and Disease-relevant Changes in Tau Splicing (2020) (1)
P2-175: Tau gene-specific natural antisense transcript expression and splicing in sporadic tauopathies (2008) (1)
White matter involvement may explain phenotypic pleiotropy amongst genes involved in episodic movement disorders (2014) (1)
THE MOUSEAC PROJECT: A GENOMEWIDE EXPRESSION ANALYSIS OF MURINE MODELS OF DEMENTIA ACCORDING TO AGE AND BRAIN REGION SIGNIFIES THE IMPORTANCE OF MICROGLIAL PATHWAYS (2018) (1)
An anti-amyloid therapy works for Alzheimer's disease: why has it taken so long and what is next? (2023) (1)
Genomic testing for copy number and single nucleotide variants in spermatogenic failure (2022) (1)
APP promotor variability as a risk factor for AD (2002) (1)
Whole Genome Analysis of Neurodegenerative Disease (2010) (1)
Protected to death. (2010) (1)
The Genes Involved in Alzheimer’s Disease (1996) (1)
Association between polygenic risk score of Alzheimer’s disease and CSF amyloid beta 42 in a cohort of 70‐year‐olds from the general population (2020) (1)
Genetic variability associated with OAS1 expression in myeloid cells increases the risk of Alzheimer’s disease and severe COVID-19 outcomes (2021) (1)
APOE E4 is associated with impaired self-declared cognition but not disease risk or age of onset in Nigerians with Parkinson’s disease (2022) (1)
PROTEIN NETWORK ANALYSIS TO PRIORITIZE CANDIDATE GENES AND PATHWAYS FOR SPORADIC DISEASE: A COMPARISON BETWEEN FRONTOTEMPORAL DEMENTIA AND PARKINSON’S DISEASE (2017) (1)
Lithium Promotes Longevi ty through GSK 3 / NRF 2-Dependent Hormesis Graphical (2016) (1)
Susceptibility locus for late onset Alzheimer's disease on chromosome 10 (2000) (1)
FTLD genomewide association study replication confirms a risk locus shared with ALS. (2011) (1)
Read all about it: Why we have an appetite for gossip (2011) (1)
Genetic variability in expression of proteins and the risk of sporadic neurologic diseases (2007) (1)
Sample tracking and use in published genome-wide association studies. (2010) (1)
Pro fi lin 1 E 117 G is a moderate risk factor for amyotrophic lateral sclerosis (2013) (1)
Polygenic overlap between C-reactive protein , plasma lipids and Alzheimer ’ s disease 1 2 (2017) (1)
Microglia Detect Externalized Phosphatidylserine on Synapses for Elimination via TREM2 in Alzheimer’s Disease Models (2022) (1)
Deletion at ITPR1 underlies ataxia in mice and humans (SCA15) (2005) (1)
No association of polymorphisms in the chat locus with late-onset Alzheimer's disease (2002) (1)
O2-02-02 The H1c risk haplotype of the MAPT gene is over-expressed in human temporal cortex relative to the other common alleles of MAPT (2006) (1)
The persistence of memory. (2006) (1)
Reply to Bertram et al. (2006) (1)
CoExp Web, a web tool for the exploitation of co-expression networks (2020) (1)
GBA1 and LRRK2 mutations in higher and lower risk subjects from the PREDICT-PD project (2014) (1)
Demographics and Medication Use of Patients with Late-Onset Alzheimer’s Disease in Hong Kong (2022) (1)
Genome-wide analysis of Structural Variants in Parkinson’s Disease using Short-Read Sequencing data (2022) (1)
The contribution of Neanderthal introgression and natural selection to neurodegenerative diseases (2023) (1)
18 – The molecular basis of Alzheimer's-type dementia (1991) (1)
FTLD GWAS Replication confirms a risk locus shared with ALS (2010) (1)
A familial FTD associated with C9orf72 repeat expansion and dysplastic gangliocytoma (2013) (1)
Variation at the LRRK2 locus determines the rate of disease progression in pro- gressive supranuclear palsy (2022) (0)
Polymorphisms in BACE 2 may affect the age of onset Alzheimer ’ s dementia in Down syndrome q (0)
693. Identification, Regulation and Characterisation of Transcribed Intergenic Regions in Human Substantia Nigra and Putamen (2017) (0)
Young onset parkinsonism due to alpha synuclein gene multiplication in a consanguineous family - A case report (2011) (0)
Author Correction: Pathogenic p62/SQSTM1 mutations impair energy metabolism through limitation of mitochondrial substrates (2018) (0)
COMPARING RESULTS OF POLYGENIC RISK SCORE AND POLYGENIC HAZARD SCORE IN PREDICTION OF AGE SPECIFIC RISK FOR DEVELOPING ALZHEIMER’S DISEASE (2018) (0)
Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxia (2022) (0)
Whole genome analysis in APOE4 homozygotes identifies the DAB1-RELN pathway in Alzheimer's disease pathogenesis (2022) (0)
Oral Presentations (2012) (0)
P4-165 Microarray analysis of gene expression in the frontal cortex of patients with frontotemporal dementia (2004) (0)
Elevation of gangliosides in four brain regions from Parkinson’s disease patients with a GBA mutation (2022) (0)
Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information (2020) (0)
No association of polymorphisms in the cholinergic locus with late-onset Alzheimer's disease. (2002) (0)
APOE2-theupside of Down syndrome (1994) (0)
IDENTIFICATION OF GENETIC RISK FACTORS FOR ALZHEIMER’S DISEASE IN THE CHINESE POPULATION (2018) (0)
Results of NOTCH3 Sequencing in Siblings with Ischemic Stroke Study Probands (2011) (0)
Duplications of APP—but not PRNP—are a significant cause of early-onset dementia in a large UK referral series (2009) (0)
Deep learning for polygenic score analysis for Alzheimer’s disease risk prediction in the Chinese population (2021) (0)
PINOT: an intuitive resource for integrating protein-protein interactions (2020) (0)
The genetics of frontotemporal dementia (2014) (0)
Genome-wide structural variant analysis identifies risk loci for non-Alzheimer’s dementias (2023) (0)
O2-06-01: A powerful, genome-wide association scan for susceptibility genes for late-onset Alzheimer's disease (2008) (0)
Impermeant Anions Cause Release of Transmitter Candidates From Synaptosomes and Brain-Slices (1984) (0)
The Role of Common Copy Number Variation in Amyotrophic Lateral Sclerosis (ALS) (2010) (0)
Prion disease (1990) (0)
Using the Gene Ontology to Annotate Key Players in Parkinson’s Disease (2016) (0)
Association of genetic variation at the GJA5/ACP6 locus with motor progression in Parkinson's (2022) (0)
O3-02-06 Linkage analysis of AD SIB pairs indicates evidence of interaction between genes regulating beta-amyloid degradation (2004) (0)
All MAPT out?: Well-travelled pathways into neurodegeneration (2010) (0)
Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer’s disease risk (2019) (0)
M11 The “hidden” mitochondrial genome: a novel bioinformatic approach for extracting and analysing mitochondrial DNA from nuclear genomic NGS sequence data at the Institute of Neurology, Queen Square (2018) (0)
Familial Parkinsonism and early onset Parkinson's disease: Phenotypic and genotypic characterization in a Brazilian Movement Disorders clinic (2007) (0)
The annotation and function of the Parkinson’s and Gaucher disease-linked gene GBA1 has been concealed by its protein-coding pseudogene GBAP1 (2023) (0)
Title : Polygenic risk score in post-mortem diagnosed sporadic early onset Alzheimer ’ s disease (2018) (0)
(2019). Parkinson’s Disease Mendelian Randomization Research (2019) (0)
Polygenic Risk Score Analysis of Alzheimer’s Disease in APOE3 homozygotes (2017) (0)
PhenoExam: gene set analyses through integration of different phenotype databases (2022) (0)
Genetic interaction study of Alzheimer's disease quantitative biomarkers: A polygenic risk score analysis and evaluation (2021) (0)
CALCULATING POLYGENIC RISK FOR INDIVIDUALS WITH SPORADIC EARLY ONSET ALZHEIMER’S DISEASE (2017) (0)
Distinct proteomic profiles in monozygotic twins discordant for ischaemic stroke (2019) (0)
Association between the LRP1B and APOE loci and the development of Parkinson’s disease dementia (2022) (0)
Increased brain expression of GPNMB is associated with genome wide significant risk for Parkinson’s disease on chromosome 7p15.3 (2017) (0)
Author's response to commentaries (1986) (0)
Genetics and neuropathology of focal dystonia (2012) (0)
Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal dementia and GRN mutations : a genome-wide association study (2018) (0)
Amino acid 384 of presenilin 1 is part of a putative active domain (2000) (0)
Systematic visualisation of molecular QTLs reveals variant mechanisms at GWAS loci (2023) (0)
Multi-modality machine learning predicting Parkinson’s disease (2022) (0)
P4-110 A systematic scan of chromosome 10 single nucleotide polymorphisms identifies novel candidate genes showing strong association to Alzheimer's disease (2004) (0)
Common BACE2 Polymorphisms are Associated with Altered Risk for Alzheimer’s Disease and CSF Amyloid Biomarkers in APOE ε4 Non-Carriers (2019) (0)
Polygenic risk score in post-mortem diagnosed sporadic early onset Alzheimer’s disease (2017) (0)
An AARS variant as the likely cause of Swedish type hereditary diffuse leukoencephalopathy with spheroids (2019) (0)
BVVL / FL : Features caused by SLC 52 A 3 mutations ; WDFY 4 and TNFSF 13 B may be 1 novel causative genes 2 (2021) (0)
MAPT allele and haplotype frequencies in Nigerian Africans: population distribution and association with Parkinson’s disease risk and age at onset (2023) (0)
Opening the mind's manacles (1992) (0)
P4-157 Genetic analysis of a the tau haplotype in the CEPH diversity panel and in Guam disease (2004) (0)
Local genetic correlations exist among neurodegenerative and neuropsychiatric diseases (2022) (0)
Deep learning-based polygenic risk analysis for Alzheimer’s disease prediction (2023) (0)
123rd meeting of the British Neuropathological Society (2022) (0)
De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes (2019) (0)
HADHA identified as a CMT2 causative gene and a GDAP1 intronic mutation identified as a 1 CMT2 causative mutation 2 (2020) (0)
The release of amino acids and phenylethylamine from mammalian synaptosomes (1981) (0)
Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology (2022) (0)
Analysis of the age-at-onset phenotype in a pilot genome-wide association study of ischemic stroke (2008) (0)
Genome-wide determinants of mortality and clinical progression in Parkinson's disease (2022) (0)
O2-02-07 Genetic variants on chromosome 9 are associated with late-onset Alzheimer’s disease, variation in allele-specific gene expression, and differential apoptotic response (2006) (0)
S.1.1 Genetic evidence that the amounts of pathogenic proteins matter in the pathogeneses of Alzheimer's and Parkinson's diseases (2004) (0)
Genetic analysis on six Brazilian families with dopa responsive dystonia. (2007) (0)
Moving beyond neurons: the role of cell type-specific gene regulation in Parkinson’s disease heritability (2019) (0)
Linkage disequilibrium as a tool for mapping Alzheimer's disease genes (2000) (0)
Alzheimer's disease: where are we up to? (2017) (0)
degeneration progressive supranuclear palsy and corticobasal gene in tau haplotype association analysis of the Linkage disequilibrium fine mapping and (2005) (0)
Ischemic Stroke Mechanism and Likelihood of Having a Positive Family History of Stroke (2001) (0)
Genetic variation in the phosphodiesterase 4D gene is associated with ischemic stroke severity: The ISGS study (2007) (0)
Genome‐wide polygenic risk scores for identification of gene therapeutic target (2020) (0)
Amyloid mutations on chromosome 21 (1992) (0)
Gene-based analysis detects novel loci associated with frontotemporal dementia and its clinical subtypes (2016) (0)
DEMENTIA AMONG THOSE WITH DOWN SYNDROME: FOCUSED ASSOCIATION STUDY ON TRISOMY 21 SNPS (2018) (0)
10. Genetics of Alzheimer's disease (2017) (0)
Mutation in FA2H leads to Fatty Acid Hydroxylase-associated Neurodegeneration (FAHN) (2010) (0)
S.02.05 Genetics of tauopathies (2010) (0)
Further analysis of the association of tau with progressive supranuclear palsy. (1999) (0)
Genetic risk for late onset neurodegenerative diseases largely reflects failure of protein clearance pathways (2019) (0)
IN44-WE-03 Genetic analysis of sporadic neurodegenerative disease (2009) (0)
Genetics of Neurodegeneration (2011) (0)
Review Article Genetic Neuropathology of Parkinson's Disease (2008) (0)
Genetic influence during the early phases of Alzheimer's disease on longitudinal cognitive impairment (2021) (0)
A MICROFLUIDICS PLATFORM FOR HUMAN TAU MUTATION (2014) (0)
ALZHEIMER’S DISEASE, PARKINSON’S DISEASE AND FRONTOTEMPORAL DEMENTIA: POLYGENICITY AND PLEIOTROPY (2017) (0)
Author Correction: Susceptible genes and disease mechanisms identified in frontotemporal dementia and frontotemporal dementia with Amyotrophic Lateral Sclerosis by DNA-methylation and GWAS (2018) (0)
P4-141 The liver X receptor: candidate gene for Alzheimer's disease (2004) (0)
Identifying genetic factors in Parkinson disease [6] (multiple letters) (2002) (0)
SnapShot: Genetics of Parkinson's (2015) (0)
SPG11 sequencing in worldwide populations of familial and sporadic spastic paraplegia patients reveals frequent mutations and the common association of parkinsonian features (2013) (0)
Investigation of tau gene-specific natural antisense transcript expression and splicing (2008) (0)
P4-122 Genetic association of an APP binding protein gene with late onset Alzheimer's disease (2004) (0)
ALZHEIMER'S DISEASE DETECTION AT THE PRECLINICAL STAGE USING A NOVEL SNP GENOTYPING ARRAY (2016) (0)
C URRENT OPINION The pallidopyramidal syndromes: nosology, aetiology and pathogenesis (2013) (0)
LINKAGE AND WHOLE GENOME SEQUENCE ANALYSIS OF ALZHEIMER'S DISEASE RESILIENCE AND RISK (2016) (0)
119 A pilot study of an algorithm designed to identify Parkinson's disease in the early, non-motor phase (2011) (0)
Faculty Opinions recommendation of Clinical features and disease haplotypes of individuals with the N279K tau gene mutation: a comparison of the pallidopontonigral degeneration kindred and a French family. (2002) (0)
Triplication of Alpha-Synuclein is Causal of Neuropathologically Confirmed Parkinson ’ s Disease , Diffuse Lewy Body Disease , and Multiple System Atrophy in a Single Kindred (2003) (0)
Specific production of Aß peptides from BRI-Aß fusion proteins (2000) (0)
Alzheimer’s disease (1988) (0)
VKučinskas-2001-2016 (2016) (0)
The Next 10 Years (2017) (0)
MEASURING HERITABLE CONTRIBUTIONS TO AD: POLYGENIC RISK SCORE ANALYSIS IN BIOMETRIC, SNP-BASED AND AUC MODELS IN TWINS (2019) (0)
Diagnostic testing for the frontotemporal dementia/amyotrophic lateral sclerosis (GGGGCC)n expansion in C9orf72 (2012) (0)
BIROn-Birkbeck Institutional Research Online Wiseman, F. and Fisher, E. and Al_Janabi, T. and Hardy, J. and Karmiloff- Smith, Annette and Nizetic, D. and Tybulewicz, V. and Strydom, A. (2015) A genetic cause of Alzheimer disease: mechanistic insights from Down (2019) (0)
Special Issue: Parkinson Disease (2016) (0)
TREM2 and Neurodegenerative Disease REPLY (2013) (0)
NeuroMolecular Medicine: Letter from the Editors (2002) (0)
[P3–107]: WITHDRAWN (2017) (0)
INVESTIGATING GENETIC VARIATION IN ALZHEIMER’S DISEASE USING WHOLE-EXOME SEQUENCING (2017) (0)
Rare loss of function variants in candidate genes and risk of colorectal cancer (2018) (0)
A genome-wide genetic pleiotropy approach identified shared loci between multiple system atrophy and inflammatory bowel disease (2019) (0)
EVALUATION OF A NOVEL ARRAY OF SNP (SINGLE NUCLEOTIDE POLYMORPHISM) MARKERS IN AMYLOID-PET STRATIFIED SAMPLES FROM MCI AND COGNITIVELY NORMAL INDIVIDUALS (2016) (0)
Developmental regulation of tau splicing and phosphorylation is conserved in iPSC-neurons and disrupted by the 10+16 intronic mutation in MAPT (2016) (0)
associated Alzheimer disease risk : Development and validation of a polygenic hazard score Permalink (2017) (0)
Genetic and pathological heterogeneity of familial fronto-temporal dementia in Wales: A study of 6 families (2006) (0)
A missense mutation in the KCTD17 gene causes autosomal dominant myoclonus-dystonia (2015) (0)
Neurodegenerative disease: expression levels of normal sequence pathogenic proteins contribute to risk of disease (2007) (0)
Haplotype structure of the 17 q 21 region in progressive supranuclear palsy and corticobasal degeneration (0)
SA37HERITABILITY OF ALZHEIMER'S DISEASE – COMPARISON OF TWIN AND POLYGENIC METHODS (2019) (0)
EXOME SEQUENCING AS A RAPID AND COST EFFICIENT DIAGNOSTIC METHOD IN NEUROGENETIC DISORDERS (2011) (0)
Large C9ORF72 hexanucleotide expansions arise spontaneously in the healthy population but can be distinguished from pathogenic mutations by Sothern Blotting (2012) (0)
OP-BRAI180237 2895..2907 (2018) (0)
An integrative hypothesis concerning the pathogenesis and progression of Alzheimer??s disease (1987) (0)
Mitochondria function associated genes contribute to Parkinson’s Disease risk and later age at onset (2019) (0)
Genome-wide Search for Ischemic Stroke Genes: The Siblings with Ischemic Stroke Study (SWISS) (2011) (0)
Correction: Pathogenic LRRK2 Mutations Do Not Alter Gene Expression in Cell Model Systems or Human Brain Tissue (2012) (0)
A molecular understanding of Alzheimer's disease (2007) (0)
781 Structure of the presenilin 2 gene in controls and Alzheimer cases (1996) (0)
Levodopa responsiveness in Parkinson's disease is significantly impaired in those with diabetes and increased vascular risk (2017) (0)
Stability of brain RNA post rnortern : effect of Alzheimer ' s disease (2009) (0)
Genome-wide meta-analysis identifies new loci and functional pathways influencing 1 Alzheimer ’ s disease risk 2 3 (2020) (0)
Rewiring MIR retrotransposons in long non-coding RNAs to regulate translation of paired antisense genes: the case of MAPT-AS1 (2018) (0)
CSF biomarking for diagnosis and treatment assessment in neurodegeneration (2012) (0)
Neuron Reports (2003) (0)
Pathways to primary neurodegenerative disease. (1999) (0)
THAP1 mutations and dystonia phenotypes: A metanalysis, genotype phenotype correlations and identification of novel mutations (2012) (0)
MN09 Comprehensive genetic characterization of an Argentinian cohort with amyotrophic lateral sclerosis (2017) (0)
Alzheimer's disease with spastic paraparesis due to deletion of exon 4 and a P436E point mutation of exon 12 of the presenilin 1 gene (2000) (0)
Genetic Techniques, Impact and Diagnostic Issues in Movement Disorders (2013) (0)
Testing and model for Alzheimer's disease (1992) (0)
Genome-wide Analyses Id entify KIF 5 A as a Novel ALS Gene Highlights (2018) (0)
ERASE: Extended Randomization for assessment of annotation enrichment in ASE datasets (2019) (0)
Young Onset Parkinson's Disease Due to Homozygous Duplication of SNCA in a Consanguineous Family from Pakistan (P01.212) (2012) (0)
A comprehensive diagnostic test for familial and early onset Parkinson's disease based on next-generation sequencing (2012) (0)
Stratification of candidate genes for Parkinson ’ s disease using weighted protein interaction network (2018) (0)
P4-091 Genetic analysis of a large family with last onset Alzheimer's disease (2004) (0)
A familial FTD associated with C9orf72 repeat expansion and dysplastic gangliocytoma (2013) (0)
Faculty Opinions recommendation of The amyloid precursor protein locus and very-late-onset Alzheimer disease. (2002) (0)
Homozygous TREM2 mutations: Another addition to the list of genetic causes of familial frontotemporal dementia (2013) (0)
A polygenic risk score for Alzheimer’s disease determines the risk of incident dementia in APOE ɛ4 negative individuals over the age of 95: A population‐based cohort study (2020) (0)
Defective Fatty Acid Hydroxylase Leads to a Novel Subtype of Neurodegeneration with Brain Iron Accumulation (NBIA) (2010) (0)
Title : Gene-based association studies report four novel 1 genes in the etiology of clinical subtypes of 2 frontotemporal dementia 3 (2016) (0)
Fulfillment of International Parkinson's and Movement Disorder Society clinical diagnostic criteria for Parkinson's disease in a large cohort study of recent onset cases. (2017) (0)
Running Title: Whole-exome sequencing of the BDR cohort: Evidence to support the role of the PILRA gene in Alzheimer’s disease (2017) (0)
GENETIC-LINKAGE ANALYSIS IN LATE-ONSET ALZHEIMERS-DISEASE (1993) (0)
Is GCH1 a risk locus for Parkinson's disease? Evidence from a case report (2013) (0)
P259 – 2083 Whole exome sequencing study aids diagnosis of atypical pantothenate kinase associated neurodegeneration (PKAN) (2013) (0)
How do G51D SNCA mutation cases compare clinically and neuropathologically to SNCA duplication and H50Q SNCA mutation (2014) (0)
Genetic Variability in Both the Adaptive and Innate Immune Systems Contribute to Alzheimer's and Parkinson's Disease Risk (2016) (0)
PREDICT-PD study: Online screening algorithm identifying Parkinson's disease risk (2013) (0)
Clinical and neuropathological features of synucleinopathy associated with G51D SNCA mutation (2013) (0)
High A42 causing presenilin 1 mutations lead to the cotton wool plaques/spastic paraparesis variant of Alzheimer's disease (2000) (0)
ALZHEIMER’S DISEASE (AD) POLYGENIC RISK SCORE (PRS) AS A PREDICTOR OF CONVERSION FROM MILD COGNITIVE IMPAIRMENT (MCI) (2018) (0)
LINKING POLYGENIC RISK SCORES TO ALZHEIMER'S DISEASE GENES (2018) (0)
Correction to: Linkage, whole genome sequence, and biological data implicate variants in RAB10 in Alzheimer’s disease resilience (2018) (0)
Neurodegenerative Diseases: A genetic outline of the pathways to cell death in Alzheimer's disease, Parkinson's disease, frontal dementias and related disorders (2005) (0)
Abstract 189: Analysis of Hypertension Associated Genetic Variants in Stroke Cases and Controls (2012) (0)
What you always wanted to know about … Genetics (2007) (0)
P4-046 Association of late onset Alzheimer's disease with genetic variation in multiple members of a gene family involved in neuronal apoptosis (2004) (0)
Human stem cell models of tauopathy (2016) (0)
Association of Dementia Owing to Alzheimer Disease With Mortality Rates Among Adults With Down Syndrome Older Than 35 Years (2018) (0)
Distinct clinical and neuropathological features of G51D SNCA mutation cases compared with SNCA duplication and H50Q mutation (2015) (0)
PSEN1 mutation presenting as posterior cortical atrophy (2015) (0)
Using induced pluripotent stem cells to model C9orf72-linked Frontotemporal Dementia (2016) (0)
Towards a Molecular Classification of Neurodegenerative Disease (2005) (0)
Investigation of the microtubule associated protein tau locus (2004) (0)
A genome screen to identify loci that modify the age-of-onset of Alzheimer's disease (2002) (0)
Reply to Letter: Identical twins with leucine rich repeat kinase type 2 mutations discordant for Parkinson's disease (2013) (0)
Health comorbidities and cognitive abilities across the lifespan in Down syndrome (2020) (0)
Genome-Wide Association Study of Gilles de la Tourette Syndrome (2012) (0)
Fine mapping of Alzheimers disease linkage region on chromosome 10 (2002) (0)
Identifying loci that modify Alzheimer's disease development: A genome screen (2002) (0)
Reply: Glial mitochondropathy in infantile neuroaxonal dystrophy: pathophysiological and therapeutic implications. (2016) (0)
Parkinson’s disease: what will the future bring? (2010) (0)
Genetic evidence for microglia-associated pathways as therapeutic targets for Alzheimer's disease (2016) (0)
The mouse that trolled (2015) (0)
GENOMIC ANALYSIS OF NEURODEGENERATION GIVES CLUES TO PATHWAYS TO SELECTIVE CELL LOSS: THE HYPOTHESIS OF THE CATASTROPHIC CLIFF OF NEURON FAILURE (2016) (0)
Comprehensive genetic investigation of NBIA and complex dystonia-parkinsonism (2012) (0)
Slowly progressive L-dopa responsive parkinsonism with neurofibrillary tangle pathology: A new clinicopathological entity? (2014) (0)
GENETIC ANALYSIS SUGGESTS HIGH MISASSIGNMENT RATE IN BOTH ALZHEIMER’S DISEASE CASES AND CONTROLS (2018) (0)
The frontotemporal lobar degenerations as 'molecular nexopathies' (2012) (0)
A microfluidics platform for human tau mutation neurons (2014) (0)
Low prevalence of PANK2 mutations in Brazilian cases of neurodegeneration with brain iron accumulation (2007) (0)
Molecular genetics of Alzheimer's disease. (1990) (0)
Exome sequencing in familial multiple system atrophy (2012) (0)
Molecular Neurobiology edited by D.M. Glover and B.D. Hames, IRL Press, 1988. £25.00 (xi + 203 pages) ISBN 0 19 963042 9 (1990) (0)
Current directions in the prevention and treatment of Alzheimer’s disease (2018) (0)
Genetic analysis of the MAPT locus in multiple system atrophy (2010) (0)
Similarities between prion diseases and other neurodegenerative diseases (2008) (0)
Friedreich's ataxia gene localized to chromosome 9 (1988) (0)
Investigating psychosis candidate genes in Alzheimer's disease with psychosis using genome-wide association studies (2009) (0)
Definition of the tau gene haplotype block that is associated with progressive supranuclear palsy (2004) (0)
Is amyloid plaque imaging the key to monitoring brain pathology of Alzheimer’s disease in vivo? (2004) (0)
Homologies Between the Genetic Etiology and Pathogenesis of the Synucleinopathies and Tauopathies (2003) (0)
Genetic Dissection of the Dementias (2000) (0)
Variant frequency in the general population GENETIC LANDSCAPE OF ALZHEIMER'S DISEASE (2013) (0)
Aging and the brain Aging. Vol. 32. Edited by R. D. Terry. ISBN 0-88167-329-3. Price $80.00. Raven Press, New York, 1988. (1988) (0)
S2-01-04 The role of the tau gene in AD (2006) (0)
The Genetics and Pathogenesis of Alzheimer’s Disease and Related Dementias (2011) (0)
Early diagnosis of Alzheimer's disease and related dementia (DIADEM) - A research network funded by the European Union (2002) (0)
Creation of a Fibroblast Resource for Dementia Research (2012) (0)
Investigating the genetic architecture of Dementia with Lewy bodies: a genome-wide association study (2018) (0)
patient with childhood-onset schizophrenia Segmental uniparental isodisomy on 5 q 32-qter in a (2006) (0)
NeuroX to screen neuro-genes in large FTLD cohort (2016) (0)
Molecular genetic study of familial presenile dementias (1991) (0)
1115 Chronic traumatic encephalopathy in retired footballers with dementia (2017) (0)
Genetic analysis of disease in the era of whole genome analysis and public databases (2012) (0)
Faculty Opinions recommendation of A susceptibility gene for late-onset idiopathic Parkinson's disease. (2002) (0)
Neurodegenerative disease: the medical imperative for the developed world (2014) (0)
Microsatellite D21S210 (GT‐12) allele frequencies in sporadic Alzheimer's disease (1995) (0)
Analysis of neurodegenerative disease-causing genes in dementia with Lewy bodies (2020) (0)
MODELLING NEURAL PATHOLOGY AND DEMENTIA IN DOWN SYNDROME USING INDUCED PLURIPOTENT STEM CELLS (2015) (0)
"Prion dementia". (1993) (0)
42 The structure and molecular biology of the presenilin 2 gene (1996) (0)
Increased BMI May Protect against Parkinson's Disease: Evidence From Mendelian Randomisation Study (2017) (0)
P4-070 Is APOE exclusively responsible for the AD linkage peak on chromosome 19? (2004) (0)
INTRODUCING A NEW SYSTEMS PATHOLOGY PARADIGM OF ALZHEIMER'S DISEASE (2017) (0)
Explorer Widespread sex differences in gene expression and splicing in the adult human brain (2016) (0)
First stage association analysis of neuropatholically proven PD confirms MAPT as an independent risk factor for PD (2012) (0)
ALZHEIMER’S DISEASE POLYGENIC BURDEN BEYOND APOE ACTS STRONGER ON TAU THAN ON AMYLOID (2019) (0)
PO187 Parkinson’s families project recruiting via the bnsu: baseline data (2017) (0)
MULTI-INFARCT DEMENTIA OF SWEDISH TYPE IS CAUSED BY 3’UTR COL4A1 MUTATION (2017) (0)
Neuroepidemiology Neurogenetics P 1176 " Direct " Molecular Diagnosis of Spinal Muscular Atrophy in Moldova Genetic and Clinical Analysis of Spinocerebellar Ataxia Type 8 (sca8) Repeat Expansion in Serbia Clinic-genealogical Features of Hereditary Neuropathies with Pressure Palsies, in Novokuznetsk (2002) (0)
Genetic analysis of sporadic neurodegenerative disease (2009) (0)
Editorial Board (2010) (0)
viewpoint An 'anatomical cascade hypothesis' for AIzheimer's disease (1992) (0)
Glucose transporter 1 gene mutations cause sporadic PED (2009) (0)
GENETIC ANALYSIS OF NEURODEGENERATION (2009) (0)
IMMUNE SYSTEM GENETICS IN ALZHEIMER'S DISEASE (2017) (0)
Evaluation of genetic risk for Alzheimer’s disease in the Hong Kong Chinese population (2020) (0)
Alzheimer’s Disease: A Matter of Dominance (1998) (0)
STRATIFICATION OF INDIVIDUALS FOR PET AMYLOID POSITIVITY AND ALZHEIMER’S DISEASE RISK USING POLYGENIC RISK SCORE ANALYSIS: NEW OPPORTUNITIES FOR CLINICAL TRIAL DESIGN (2018) (0)
Protein network analysis of FTD and PD: pathways and candidate genes for sporadic disease (2017) (0)
O2-07-04 COPY NUMBER POLYMORPHISM AT CHROMOSOME 19 LOCUS ASSOCIATED WITH LATE-ONSET ALZHEIMER’S DISEASE (2010) (0)
Finding common ground PERSPECTIVE Finding common ground (2016) (0)
Genetics of dementias (1990) (0)
Explorer Insights into TREM 2 biology by network analysis of human brain gene expression data (2016) (0)
Parkinson ’ s Disease α-Catenin and Wnt Signaling Ox-Phose Genes and Alzheimer ’ s Disease NO and Tardive Dyskinesia Homocysteine and Oxyradical-Induced Cognitive Impairment (2004) (0)
Molecular genetics of Alzheimer's disease. (1996) (0)
P1.060 Pathological observations in seven cases with neurodegeneration with brain iron accumulation (NBIA) with mutations in PANK2 and PLA2G6 (2009) (0)
The genetics of parkinsonisms (2010) (0)
Increased MAPT expression as the possible functional basis of the genetic association with PSP (2006) (0)
A clinicopathological study of parkin-linked parkinsonism - A study of 5 cases and comparison with Parkinson's disease (2012) (0)
P1-307 Regional expression in neuropathologically normal tissue (2006) (0)
Genetics of Alzheimer's disease: APP, APOE, and the chromosome 14 locus (1994) (0)
European multicentric cohort (2015) (0)
What Is a Schizophrenic Mouse? (2007) (0)
ENRICHMENT OF AMYLOID-POSITIVE SAMPLES BY PET FROM EARLY SYMPTOMATIC AND PRODROMAL COHORT (2017) (0)
Drs. Kuerreiro and Hardy reply (2013) (0)
POLYGENIC SCORING FOR RISK STRATIFICATION OF FUTURE COGNITIVE DECLINE IN MILD COGNITIVE IMPAIRMENT (MCI) (2016) (0)
Alzheimer’s Disease: many Aetiologies; one Pathogenesis (1992) (0)
A NOVEL MODEL OF GBA1-ASSOCIATED PARKINSON'S DISEASE IMPLICATES AUTOPHAGY (2016) (0)
Recovery and measurement of RNA in Alzheimer ' s disease by molecular hybridi (0)
The influence of the R47H triggering receptor expressed on myeloid cells 2 variant on microglial exosome profiles (2021) (0)
MODELLING AMYLOID BETA PROFILES IN IPSC-DERIVED CORTICAL NEURONS OF MULTIPLE FAMILIAL ALZHEIMER’S DISEASE GENOTYPES, INCLUDING A CASE STUDY OF SAME DONOR CULTURE MEDIA, CSF AND BRAIN TISSUE (2018) (0)
Identification of novel CSF biomarkers for neurodegeneration and their validation by a high-throughput multiplexed targeted proteomic assay (2015) (0)
Human myeloid progenitor glucocorticoid receptor activation causes genomic instability, type 1 IFN‐ response pathway activation and senescence in differentiated microglia; an early life stress model (2022) (0)
Dementia and neurodegeneration : Challenges and opportunities Fundamental research : From molecules to neural circuitry (2013) (0)
Erratum to: Identification of novel CSF biomarkers for neurodegeneration and their validation by a high-throughput multiplexed targeted proteomic assay (2016) (0)
Trem 2 promotes anti-inflammatory responses in microglia and is suppressed under pro-inflammatory conditions Short running title : TREM 2 drives anti-inflammatory processes (2018) (0)
Brain Communications The influence of the R47H TREM2 variant on microglial exosome profiles Running title: TREM2 variant microglial exosomes (2021) (0)
3D CEREBRAL ORGANOIDS AS IN VITRO MODELS FOR ALZHEIMER’S DISEASE (2017) (0)
GENETIC CHARACTERIZATION OF A TURKISH DEMENTIA COHORT: FOCUS ON TYROBP (2017) (0)
Pathogenic p62/SQSTM1 mutations impair energy metabolism through limitation of mitochondrial substrates (2017) (0)
Upregulation of Trem2 expression occurs exclusively on microglial contact with plaques (2022) (0)
BVVL/ FL: features caused by SLC52A3 mutations; WDFY4 and TNFSF13B may be novel causative genes (2020) (0)
Knock-in models related to Alzheimer’s disease: synaptic transmission, plaques and the role of microglia (2021) (0)
Differences in the TREM2 levels in the CSF of Alzheimer’s disease cases and controls (2015) (0)
Diabetes and Small Vessel Cerebrovascular Disease Influence Motor and Cognitive Features in Early Parkinson’s Disease (S19.006) (2016) (0)
Publisher Correction: Genetic dissection of down syndrome‑associated alterations in APP/amyloid‑β biology using mouse models (2021) (0)
Genetic Analysis Publications in Neurobiology of Aging (2009) (0)
STOP-GAIN VARIANT IN MICROGLIA-EXPRESSED GENE GMIP IS ASSOCIATED WITH EARLY-ONSET ALZHEIMER’S DISEASE (2018) (0)
P4-164 Molecular study of dementia with neurofilament inclusions (2004) (0)
Genetic analysis of neurodegeneration.. the end game (2013) (0)
Peptidylarginine Deiminases as Mediators of Microvesicular Release - Novel Therapeutic Interventions (2017) (0)
Neurofilament light as a blood biomarker for neurodegeneration in Down syndrome (2018) (0)
Neurofilament light as a blood biomarker for neurodegeneration in Down syndrome (2018) (0)
Reply to “Down Syndrome Cognitive Marker's Significance in Alzheimer's Disease and Dementia Management” (2019) (0)
Abnormal microtubule dynamics disrupt nucleocytoplasmic transport in tau-mediated frontotemporal dementia (2018) (0)
Single-cell RNA sequencing analysis of human Alzheimer’s disease brain samples reveals neuronal and glial specific cells differential expression (2023) (0)
The amyloid-β pathway in Alzheimer's disease: a plain language summary. (2023) (0)
Human stem cell models of frontotemporal dementia caused by a non-coding hexanucleotide repeat expansion in C9ORF72 (2013) (0)
120 An algorithm to identify individuals at high-risk of Parkinson's disease in the community (2012) (0)
In Both Cjd4 and Gerstmann-straussler Syndrome,5 And (0)
The application of snp profiling to the risk stratification for future cognitive decline in mild cognitive impairment (MCI) (2015) (0)
The PSEN1 E280G mutation leads to increased amyloid-β43 production in induced pluripotent stem cell neurons and deposition in brain tissue (2022) (0)
THE ROLE OF MICROGLIAL COMPLEMENT RECEPTOR 1 (CR1) IN ALZHEIMER'S DISEASE (2011) (0)
Selective vulnerability in neurodegenerative diseases (2018) (0)
Plasma biomarkers for amyloid, tau, and cytokines in Down syndrome and sporadic Alzheimer’s disease (2019) (0)
Plasma biomarkers for amyloid, tau, and cytokines in Down syndrome and sporadic Alzheimer’s disease (2019) (0)
Glucocorticoid receptor activation during human microglial differentiation leads to genomic instability and senescence (2022) (0)
PROBING DEVELOPMENTAL CONSEQUENCES OF PSEN1 MUTATIONS IN IPSC DIFFERENTIATION IN 2D AND 3D (2017) (0)
iPSC‐derived engineered cerebral organoids (enCORs) as in vitro models of tauopathy (2020) (0)
Genetically elevated high-density lipoprotein cholesterol through the cholesteryl ester transfer protein gene does not associate with risk of Alzheimer's disease (2018) (0)
A STREAMLINED INTEGRATED PROCESS TO PREDICT GENETIC RISK OF ALZHEIMER’S DISEASE (2019) (0)
GENETIC DISSECTION OF SEVERITY AND ONSET MODULATORS FOR ALZHEIMER’S PATHOLOGY IN DOWN SYNDROME USING CELLULAR SYSTEMS (2017) (0)
AMYLIN DYSHOMEOSTASIS DISRUPTS WHITE MATTER STRUCTURAL INTEGRITY AND MODULATES AMYLOID COMPOSITION AND PATHOLOGY DISTRIBUTION IN BRAINS OF PATIENTS WITH AD AND AD RATS (2019) (0)
CORTICAL NEURONS AND CEREBRAL ORGANOIDS FROM APP AND PSEN1 MUTATION CARRIERS REVEAL MUTATION-SPECIFIC EFFECTS ON Aβ PRODUCTION (2019) (0)
Clinical features and changing patterns of neurodegenerative disorders on Guam, 1997-2000 [Letter] (2002) (0)
1 GBA-associated Parkinson ' s-Progression in a Deep Brain Stimulation cohort (2017) (0)
PROBING DEVELOPMENTAL CONSEQUENCES OF PSEN1 MUTATIONS IN IPSC DIFFERENTIATION IN 2D AND 3D (2017) (0)
ALZHEIMER'S DISEASE: GENETICS TO PATHOGENESIS (2008) (0)
DISTINCT Aβ PRODUCTION IN STEM CELL-DERIVED CORTICAL NEURONS FROM PATIENTS WITH FAD MUTATION (2017) (0)
Susceptible genes and disease mechanisms identified in frontotemporal dementia and frontotemporal dementia with Amyotrophic Lateral Sclerosis by DNA-methylation and GWAS (2017) (0)
Microglial-derived proteins in CSF are candidate biomarkers for early diagnosis of Alzheimer’s disease (2015) (0)
AD-Linked TREM2 Mutation Induces Unique Microglial States Associated with Toxic Function in Tauopathy (2019) (0)
Dementia on a chip: monitoring synaptic dysfunction of patient derived human neurons (2016) (0)
Premature neuronal differentiation in familial Alzheimer’s disease human stem cells in vitro and in postmortem brain tissue (2020) (0)
A genome-wide association study of progressive supranuclear palsy (PSP) and corticobasal degeneration (CBD) (2010) (0)
BRAIN MONOAMINES IN DEMENTIA OF ALZHEIMER TYPE (1984) (0)
Progress towards a neuronal cell model of the tauopathies (2010) (0)
Genetic risk for AD and amyloid deposition (2019) (0)
Genetics of tauopathies (2010) (0)
Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing (2019) (0)
Genome-wide association analysis of Dementia with Lewy bodies reveals unique genetic architecture (2017) (0)
Analysis of nucleus and cytoplasm-specific RNA fractions demonstrates that a significant proportion of the genetic regulation of gene expression across the human brain occurs post-transcriptionally (2022) (0)
INVESTIGATING SARM1 VARIANTS IN ALZHEIMER’S DISEASE COHORTS (2016) (0)
Correction to: A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer’s disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity (2020) (0)
Identification of evolutionarily conserved gene networks mediating neurodegenerative dementia (2018) (0)
Frontotemporal dementia: insights into the biological underpinnings of disease through gene co-expression network analysis (2016) (0)
Nosological confusion regarding the boundaries of dementia with Lewy bodies (2006) (0)
P4-094 Microarray profiling of Alzheimer's disease: findings based on segregation by APOE genotype (2004) (0)
114th Meeting of the British Neuropathological Society Institute of Child Health, London  Symposium: ”Advances in Motor Neuron Diseases” 13th March 2013 (2013) (0)
Replication and meta-analysis of the CHRFAM7A copy number variant in a cohort of clinically characterized and neuropathologically verified individuals (2012) (0)
Oral presentations (2014) (0)
Genetics of dementia in a Finnish cohort (2018) (0)
Blood plasma biomarkers improve prediction accuracy over and above genetic predictors of Alzheimer’s disease (2022) (0)
Incomplete annotation of disease-associated genes is limiting our 1 understanding of Mendelian and complex neurogenetic disorders 2 (2019) (0)
Mechanisms contributing to differential genetic risks for TREM2 R47H and R62H variants in Alzheimer's Disease (2022) (0)
What does heritability of Alzheimer’s disease represent? (2022) (0)
Replication and meta-analysis of the CHRFAM7A copy number variant in a cohort of clinically characterized and neuropathologically verified individuals (2012) (0)
Genetic variation associated with human longevity and Alzheimer's disease risk act through microglia and oligodendrocyte cross-talk (2023) (0)
MOLECULAR GENETIC APPROACHES TO AUTOSOMAL DOMINANT FAMILIAL ALZHEIMER'S DISEASE (1988) (0)
De novo point mutations and copy number variants in discordant monozygotic twins reveals disease-susceptibility genes (2019) (0)
Serum neurofilament light as a biomarker for prognosis in patients with newly diagnosed Parkinson disease (2021) (0)
Genome-Wide Association Study of Gilles de la Tourette Syndrome (IN10-1.002) (2012) (0)
Exceptionally low likelihood of Alzheimer’s dementia in APOE2 homozygotes from a 5,000-person neuropathological study (2020) (0)

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