Andrew Singleton

Q: What Schools Are Affiliated With Andrew Singleton

Andrew Singleton is affiliated with the following schools: Imperial College London, University College London, University of Oxford, Wake Forest University, University of Sunderland, University of Washington, Massachusetts General Hospital

Andrew Singleton's AcademicInfluence.com Rankings

Andrew Singleton

Biology

#5082

World Rank

#7474

Historical Rank

Neuroscience

#691

World Rank

#723

Historical Rank

biology Degrees

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Biology

Andrew Singleton's Degrees

Bachelors Neuroscience University of Oxford

Why Is Andrew Singleton Influential?

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According to Wikipedia, Andrew B. Singleton is a British neurogeneticist currently working in the USA. He was born in Guernsey, the Channel Islands in 1972, where he lived until he was 18 years old. His secondary education was conducted at the Guernsey Grammar School. He earned a first class degree in Applied Physiology from Sunderland University and his PhD in neuroscience from the University of Newcastle upon Tyne where he studied the genetics of Alzheimer's disease and other dementias at the Medical Research Council Neurochemical Pathology Unit. He moved to the United States in 1999, where he began working at the Mayo Clinic in Jacksonville, Florida studying the genetic basis of Parkinson's disease, ataxia, and dystonia. He moved to the National Institutes of Health in 2001 to head the newly formed Molecular Genetics unit within the Laboratory of Neurogenetics. In 2006 he took over as Chief of the Laboratory of Neurogenetics and became an NIH Distinguished Investigator in the intramural program at the National Institute on Aging in 2017. In 2020 he stepped down as the Chief of the Laboratory of Neurogenetics and became the Acting Director of the newly formed Center for Alzheimer's and Related Dementias at the NIA . In 2021 he became the Director of CARD.

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Andrew Singleton'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

A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD (2011) (3746)
α-Synuclein Locus Triplication Causes Parkinson's Disease (2003) (3683)
Cloning of the Gene Containing Mutations that Cause PARK8-Linked Parkinson's Disease (2004) (2294)
TREM2 variants in Alzheimer's disease. (2013) (2173)
New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk (2010) (2087)
alpha-Synuclein locus triplication causes Parkinson's disease. (2003) (2042)
Genetic Variants in Novel Pathways Influence Blood Pressure and Cardiovascular Disease Risk (2011) (1928)
Genome-Wide Association Study reveals genetic risk underlying Parkinson’s disease (2009) (1770)
Rare Structural Variants Disrupt Multiple Genes in Neurodevelopmental Pathways in Schizophrenia (2008) (1764)
Common variants in ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer’s disease (2011) (1701)
Letter abstract - Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's Disease (2009) (1644)
Diagnosis and management of dementia with Lewy bodies (2017) (1606)
Systematic identification of trans eQTLs as putative drivers of known disease associations (2013) (1593)
Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson’s disease (2014) (1591)
Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease, and shows evidence for additional susceptibility genes (2009) (1441)
Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease (2013) (1388)
The Parkinson Progression Marker Initiative (PPMI) (2011) (1159)
Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing (2019) (1073)
Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. (2009) (965)
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)
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)
A meta-analysis of genome-wide association studies identifies 17 new Parkinson's disease risk loci (2017) (811)
Abundant Quantitative Trait Loci Exist for DNA Methylation and Gene Expression in Human Brain (2010) (794)
Genomewide association studies and human disease. (2009) (778)
New loci associated with kidney function and chronic kidney disease (2010) (754)
A common LRRK2 mutation in idiopathic Parkinson's disease (2005) (739)
Common genetic variants influence human subcortical brain structures (2015) (731)
Kinase activity is required for the toxic effects of mutant LRRK2/dardarin (2006) (715)
DNA methylation-based measures of biological age: meta-analysis predicting time to death (2016) (699)
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations (2012) (678)
Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge (2010) (648)
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)
Epigenetic Signatures of Cigarette Smoking (2016) (574)
D2 dopamine receptor gene (DRD2) Taq1 A polymorphism: reduced dopamine D2 receptor binding in the human striatum associated with the A1 allele. (1997) (546)
Comprehensive Research Synopsis and Systematic Meta-Analyses in Parkinson's Disease Genetics: The PDGene Database (2012) (546)
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)
Characterization of PLA2G6 as a locus for dystonia‐parkinsonism (2008) (466)
A Genome-Wide Association Study Identifies Protein Quantitative Trait Loci (pQTLs) (2008) (460)
Genetic screening for a single common LRRK2 mutation in familial Parkinson's disease (2005) (459)
The transcriptional landscape of age in human peripheral blood (2015) (450)
Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes. (2008) (424)
Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure (2011) (424)
Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer’s disease (2013) (418)
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene (2018) (414)
The genetic architecture of Parkinson's disease (2020) (413)
Genome-wide genotyping in Parkinson's disease and neurologically normal controls: first stage analysis and public release of data (2006) (412)
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)
Genome-Wide Analyses of Exonic Copy Number Variants in a Family-Based Study Point to Novel Autism Susceptibility Genes (2009) (400)
Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function (2016) (388)
Genome-Wide Association Study of Plasma Polyunsaturated Fatty Acids in the InCHIANTI Study (2009) (382)
Genetics in Parkinson disease: Mendelian versus non‐Mendelian inheritance (2016) (374)
Genomic Variation in Seven Khoe-San Groups Reveals Adaptation and Complex African History (2012) (369)
Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium (2009) (369)
Distinct DNA methylation changes highly correlated with chronological age in the human brain. (2011) (360)
A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies. (2013) (357)
α-Synuclein in blood and brain from familial Parkinson disease with SNCA locus triplication (2004) (352)
DLB and PDD boundary issues (2007) (351)
The genetics of Parkinson's disease: Progress and therapeutic implications (2013) (346)
Association of cerebrospinal fluid β-amyloid 1-42, T-tau, P-tau181, and α-synuclein levels with clinical features of drug-naive patients with early Parkinson disease. (2013) (342)
α-synuclein gene haplotypes are associated with Parkinson’s disease (2001) (334)
Targeting α-synuclein for treatment of Parkinson's disease: mechanistic and therapeutic considerations (2015) (331)
Mutations in the gene LRRK2 encoding dardarin (PARK8) cause familial Parkinson's disease: clinical, pathological, olfactory and functional imaging and genetic data. (2005) (324)
Using exome sequencing to reveal mutations in TREM2 presenting as a frontotemporal dementia-like syndrome without bone involvement. (2012) (309)
Identification of heart rate–associated loci and their effects on cardiac conduction and rhythm disorders (2013) (299)
Menopause accelerates biological aging (2016) (295)
Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy. (2016) (292)
The genetics and neuropathology of Parkinson’s disease (2012) (282)
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)
Meta-analysis of genome-wide association data identifies two loci influencing age at menarche (2009) (276)
Deletion at ITPR1 Underlies Ataxia in Mice and Spinocerebellar Ataxia 15 in Humans (2007) (272)
Genome-wide association study of vitamin B6, vitamin B12, folate, and homocysteine blood concentrations. (2009) (270)
Clinical heterogeneity of α‐synuclein gene duplication in Parkinson's disease (2006) (265)
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)
Genome-wide association study of obsessive-compulsive disorder (2013) (256)
Genome-wide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individuals. (2007) (249)
Early‐onset L‐dopa‐responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations (2010) (246)
A Meta-Analysis Identifies New Loci Associated with Body Mass index in Individuals of African Ancestry (2013) (244)
Association of CR1, CLU and PICALM with Alzheimer's disease in a cohort of clinically characterized and neuropathologically verified individuals. (2010) (240)
Novel genetic loci associated with hippocampal volume (2017) (238)
Early‐onset Parkinson's disease caused by a compound heterozygous DJ‐1 mutation (2003) (237)
The Parkinson's progression markers initiative (PPMI) – establishing a PD biomarker cohort (2018) (234)
Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data (2007) (233)
GWAS of longevity in CHARGE consortium confirms APOE and FOXO3 candidacy. (2015) (229)
Genotype-imputation accuracy across worldwide human populations. (2009) (224)
Human aging is characterized by focused changes in gene expression and deregulation of alternative splicing (2011) (218)
DNA methylation signatures of chronic low-grade inflammation are associated with complex diseases (2016) (215)
Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease. (2004) (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 genetics of ischaemic stroke (2010) (207)
Meta-Analysis of Genome-Wide Association Studies in African Americans Provides Insights into the Genetic Architecture of Type 2 Diabetes (2014) (205)
DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA (2008) (196)
Splice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intolerance. (2008) (195)
Novel genetic loci underlying human intracranial volume identified through genome-wide association (2016) (192)
Parkinson's disease age at onset genome‐wide association study: Defining heritability, genetic loci, and α‐synuclein mechanisms (2019) (189)
Common variation in the beta-carotene 15,15'-monooxygenase 1 gene affects circulating levels of carotenoids: a genome-wide association study. (2009) (187)
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)
Association of genetic variation with systolic and diastolic blood pressure among African Americans: the Candidate Gene Association Resource study (2011) (185)
Clinical heterogeneity of alpha-synuclein gene duplication in Parkinson's disease. (2006) (183)
Genetics of Parkinson's disease: An introspection of its journey towards precision medicine (2020) (181)
Genome-wide association analysis of blood-pressure traits in African-ancestry individuals reveals common associated genes in African and non-African populations. (2013) (176)
MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies (2012) (176)
Genome-wide association study confirms extant PD risk loci among the Dutch (2011) (175)
Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11 (2007) (173)
Diagnosis of Parkinson's disease on the basis of clinical and genetic classification: a population-based modelling study (2015) (172)
Repeat expansion in C9ORF72 in Alzheimer's disease. (2012) (171)
Using genome-wide complex trait analysis to quantify 'missing heritability' in Parkinson's disease. (2013) (169)
CSF biomarkers associated with disease heterogeneity in early Parkinson’s disease: the Parkinson’s Progression Markers Initiative study (2016) (169)
Genomic biomarkers and cellular pathways of ischemic stroke by RNA gene expression profiling (2010) (169)
A Genome-Wide Association Study of Depressive Symptoms (2013) (166)
alpha-Synuclein gene haplotypes are associated with Parkinson's disease. (2001) (164)
Whole Genome Analyses Suggest Ischemic Stroke and Heart Disease Share an Association With Polymorphisms on Chromosome 9p21 (2008) (163)
Parkinson's disease and α‐synuclein expression (2011) (163)
Investigating the genetic architecture of dementia with Lewy bodies: a two-stage genome-wide association study (2018) (163)
Parkinson’s disease in GTP cyclohydrolase 1 mutation carriers (2014) (160)
Genetic and phenotypic characterization of complex hereditary spastic paraplegia (2016) (155)
DNA Methylation of Lipid-Related Genes Affects Blood Lipid Levels (2015) (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)
Exome sequencing: a transformative technology (2011) (151)
Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways (2012) (150)
A genome-wide association analysis of serum iron concentrations. (2010) (149)
Meta-analyses identify 13 novel loci associated with age at menopause and highlights DNA repair and immune pathways (2011) (149)
Research priorities in spasmodic dysphonia (2008) (142)
Genetic risk factors in Parkinson’s disease (2018) (138)
Spinocerebellar ataxia type 3 phenotypically resembling parkinson disease in a black family. (2001) (137)
Comparing Spatial Maps of Human Population-Genetic Variation Using Procrustes Analysis (2010) (136)
Genome-Wide Association Study of White Blood Cell Count in 16,388 African Americans: the Continental Origins and Genetic Epidemiology Network (COGENT) (2011) (136)
LRRK2 gene in Parkinson disease (2005) (135)
A common variation in deiodinase 1 gene DIO1 is associated with the relative levels of free thyroxine and triiodothyronine. (2008) (134)
Emerging pathways in genetic Parkinson's disease: Potential role of ceramide metabolism in Lewy body disease (2008) (134)
A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis. (2009) (133)
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)
Meta-Analysis of Genome-Wide Association Studies Identifies Six New Loci for Serum Calcium Concentrations (2013) (130)
Genome-wide screen identifies rs646776 near sortilin as a regulator of progranulin levels in human plasma. (2010) (129)
Sequencing analysis of OMI/HTRA2 shows previously reported pathogenic mutations in neurologically normal controls. (2008) (128)
Estimating the causal influence of body mass index on risk of Parkinson disease: A Mendelian randomisation study (2017) (128)
Integration of GWAS SNPs and tissue specific expression profiling reveal discrete eQTLs for human traits in blood and brain (2012) (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)
Multiple Loci Are Associated with White Blood Cell Phenotypes (2011) (123)
A genome-wide association study in multiple system atrophy (2016) (122)
Progranulin mutations and amyotrophic lateral sclerosis or amyotrophic lateral sclerosis–frontotemporal dementia phenotypes (2006) (122)
Molecular genetic overlap in bipolar disorder, schizophrenia, and major depressive disorder (2014) (118)
TREM2 Variants in Alz hei mer's Disease (2012) (118)
Genome-wide meta-analysis of observational studies shows common genetic variants associated with macronutrient intake1234 (2013) (118)
LRRK2: Cause, Risk, and Mechanism (2014) (117)
Profile of families with parkinsonism‐predominant spinocerebellar ataxia type 2 (SCA2) (2004) (116)
Polygenic risk of Parkinson disease is correlated with disease age at onset (2015) (116)
Clinical and positron emission tomography of Parkinson's disease caused by LRRK2 (2005) (115)
Association between cardiac denervation and parkinsonism caused by α‐synuclein gene triplication (2004) (115)
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)
Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease. (2012) (114)
Application of Genome-Wide Single Nucleotide Polymorphism Typing: Simple Association and Beyond (2006) (113)
Longitudinal Change of Clinical and Biological Measures in Early Parkinson's Disease: Parkinson's Progression Markers Initiative Cohort (2018) (113)
Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity. (2013) (112)
A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinson's disease. (2013) (112)
The tau H2 haplotype is almost exclusively Caucasian in origin (2004) (111)
Type 2 Diabetes Variants Disrupt Function of SLC16A11 through Two Distinct Mechanisms (2017) (110)
Genome-Wide Meta-Analysis for Serum Calcium Identifies Significantly Associated SNPs near the Calcium-Sensing Receptor (CASR) Gene (2010) (110)
Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Portugal (2009) (110)
Comprehensive analysis of LRRK2 in publicly available Parkinson's disease cases and neurologically normal controls (2008) (109)
Extended tracts of homozygosity identify novel candidate genes associated with late-onset Alzheimer’s disease (2009) (108)
A Meta-analysis of Gene Expression Signatures of Blood Pressure and Hypertension (2015) (108)
Cardiometabolic effects of genetic upregulation of the interleukin 1 receptor antagonist: a Mendelian randomisation analysis (2015) (106)
Genome-wide meta-analyses of smoking behaviors in African Americans (2012) (106)
Cell Specific eQTL Analysis without Sorting Cells (2014) (105)
Multiple modality biomarker prediction of cognitive impairment in prospectively followed de novo Parkinson disease (2017) (105)
Genome-wide CRISPRi/a screens in human neurons link lysosomal failure to ferroptosis (2020) (105)
NeuroX, a fast and efficient genotyping platform for investigation of neurodegenerative diseases (2015) (104)
A Meta-Analysis and Genome-Wide Association Study of Platelet Count and Mean Platelet Volume in African Americans (2012) (104)
A Presenilin 1 Mutation Associated with Familial Frontotemporal Dementia Inhibits γ-Secretase Cleavage of APP and Notch (2002) (103)
Tyrosinase exacerbates dopamine toxicity but is not genetically associated with Parkinson's disease (2005) (102)
Genome-wide association study of Tourette Syndrome (2012) (102)
Exome sequencing reveals an unexpected genetic cause of disease: NOTCH3 mutation in a Turkish family with Alzheimer's disease (2012) (102)
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)
Blood Leukocyte DNA Methylation Predicts Risk of Future Myocardial Infarction and Coronary Heart Disease. (2019) (99)
Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis (2019) (98)
Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis (2019) (98)
Familial frontotemporal dementia with amyotrophic lateral sclerosis and a shared haplotype on chromosome 9p (2011) (98)
The law of mass action applied to neurodegenerative disease: a hypothesis concerning the etiology and pathogenesis of complex diseases. (2004) (98)
Genomewide association study of Parkinson's disease clinical biomarkers in 12 longitudinal patients' cohorts (2019) (97)
The dardarin G2019S mutation is a common cause of Parkinson's disease but not other neurodegenerative diseases (2005) (96)
Finding useful biomarkers for Parkinson’s disease (2018) (96)
Expanding Parkinson’s disease genetics: novel risk loci, genomic context, causal insights and heritable risk (2018) (94)
A large study reveals no association between APOE and Parkinson's disease (2012) (93)
A common genetic factor for Parkinson disease in ethnic Chinese population in Taiwan (2006) (93)
Genetic modifiers of risk and age at onset in GBA associated Parkinson's disease and Lewy body dementia. (2019) (92)
NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases (2017) (92)
Genetic variability at the PARK16 locus (2010) (92)
Parkinson's disease due to the R1441G mutation in Dardarin: A founder effect in the basques (2006) (91)
SCA2 may present as levodopa‐responsive parkinsonism (2003) (87)
Association of HFE common mutations with Parkinson's disease, Alzheimer's disease and mild cognitive impairment in a Portuguese cohort (2006) (86)
Towards a complete resolution of the genetic architecture of disease. (2010) (86)
Phenomenology of “Lubag” or X‐linked dystonia–parkinsonism (2002) (86)
Aberrant splicing in the presenilin-1 intron 4 mutation causes presenile Alzheimer's disease by increased Abeta42 secretion. (1999) (86)
Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes (2018) (85)
Longitudinal CSF biomarkers in patients with early Parkinson disease and healthy controls (2017) (85)
Discovery and functional prioritization of Parkinson’s disease candidate genes from large-scale whole exome sequencing (2017) (85)
Discovery and functional prioritization of Parkinson’s disease candidate genes from large-scale whole exome sequencing (2017) (85)
Measures of Autozygosity in Decline: Globalization, Urbanization, and Its Implications for Medical Genetics (2009) (84)
Effect of Complement CR1 on Brain Amyloid Burden During Aging and Its Modification by APOE Genotype (2013) (84)
The Evolution of Genetics: Alzheimer’s and Parkinson’s Diseases (2016) (84)
Parkin and PINK1 mutations in early-onset Parkinson’s disease: comprehensive screening in publicly available cases and control (2009) (84)
Identification, Replication, and Fine-Mapping of Loci Associated with Adult Height in Individuals of African Ancestry (2011) (83)
Clinical-genetic model predicts incident impulse control disorders in Parkinson's disease (2016) (82)
Parkinson's disease and dementia with Lewy bodies: a difference in dose? (2004) (81)
Parkinson’s disease genetics: identifying novel risk loci, providing causal insights and improving estimates of heritable risk (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)
Mitochondria function associated genes contribute to Parkinson’s Disease risk and later age at onset (2019) (80)
Resolving the polymorphism-in-probe problem is critical for correct interpretation of expression QTL studies (2013) (79)
How genetics research in Parkinson's disease is enhancing understanding of the common idiopathic forms of the disease (2005) (79)
Analysis of IFT74 as a candidate gene for chromosome 9p-linked ALS-FTD (2006) (79)
Analysis of an early‐onset Parkinson's disease cohort for DJ‐1 mutations (2004) (78)
Causal Effect of Plasminogen Activator Inhibitor Type 1 on Coronary Heart Disease (2017) (78)
Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation. (2019) (77)
Genome-wide analysis of the heritability of amyotrophic lateral sclerosis. (2014) (76)
Allelic heterogeneity and more detailed analyses of known loci explain additional phenotypic variation and reveal complex patterns of association (2011) (76)
Longitudinal Analyses of Cerebrospinal Fluid α-Synuclein in Prodromal and Early Parkinson’s Disease (2019) (76)
Association between cardiac denervation and parkinsonism caused by alpha-synuclein gene triplication. (2004) (75)
Genetic risk and age in Parkinson's disease: Continuum not stratum (2015) (75)
A generalizable hypothesis for the genetic architecture of disease: pleomorphic risk loci. (2011) (75)
Loss-of-function mutations in RAB39B are associated with typical early-onset Parkinson disease (2015) (75)
A whole-blood transcriptome meta-analysis identifies gene expression signatures of cigarette smoking. (2016) (75)
Genome-wide analysis of genetic correlation in dementia with Lewy bodies, Parkinson's and Alzheimer's diseases (2016) (74)
Disease modification and biomarker development in Parkinson disease (2020) (74)
Torsin A haplotype predisposes to idiopathic dystonia (2005) (74)
Defects in the CAPN1 Gene Result in Alterations in Cerebellar Development and Cerebellar Ataxia in Mice and Humans. (2016) (74)
Validation of Serum Neurofilament Light Chain as a Biomarker of Parkinson’s Disease Progression (2020) (73)
Ethnic differences in the expression of neurodegenerative disease: Machado‐Joseph disease in Africans and Caucasians (2002) (73)
SPG11 mutations are common in familial cases of complicated hereditary spastic paraplegia (2008) (72)
SNCA multiplication is not a common cause of Parkinson disease or dementia with Lewy bodies (2004) (72)
Association between AKT1 gene and Parkinson's disease: A protective haplotype (2008) (72)
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)
Alzheimer Risk Variant CLU and Brain Function During Aging (2013) (71)
Lack of association between the dopamine D2 receptor gene allele DRD2*A1 and cigarette smoking in a United Kingdom population. (1998) (71)
Clinical and dopamine transporter imaging characteristics of non-manifest LRRK2 and GBA mutation carriers in the Parkinson's Progression Markers Initiative (PPMI): a cross-sectional study (2020) (71)
Genome-wide association analysis of red blood cell traits in African Americans: the COGENT Network. (2013) (70)
A Network-Based Approach to Prioritize Results from Genome-Wide Association Studies (2011) (70)
Genetic comorbidities in Parkinson's disease. (2014) (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)
Meeting Report: Consensus Statement—Parkinson’s Disease and the Environment: Collaborative on Health and the Environment and Parkinson’s Action Network (CHE PAN) Conference 26–28 June 2007 (2008) (67)
Glucocerebrosidase mutations are also found in subjects with early‐onset parkinsonism from Venezuela (2006) (67)
Lack of replication of association between GIGYF2 variants and Parkinson disease. (2008) (65)
A saturated map of common genetic variants associated with human height (2022) (65)
No association between the K variant of the butyrylcholinesterase gene and pathologically confirmed Alzheimer's disease. (1998) (65)
Analysis of Nigerians with Apparently Sporadic Parkinson Disease for Mutations in LRRK2, PRKN and ATXN3 (2008) (64)
Genome-Wide Association Studies of Cognitive and Motor Progression in Parkinson’s Disease (2020) (64)
Clinical and Neuropathological Correlates of Apolipoprotein E Genotype in Dementia with Lewy Bodies (2002) (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)
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)
Genes and parkinsonism (2003) (62)
Meta-analysis of epigenome-wide association studies of cognitive abilities (2018) (62)
What success can teach us about failure: the plasma metabolome of older adults with superior memory and lessons for Alzheimer's disease (2017) (62)
Frequency of Loss of Function Variants in LRRK2 in Parkinson Disease (2018) (61)
The endocytic membrane trafficking pathway plays a major role in the risk of Parkinson's disease (2019) (61)
Baseline genetic associations in the Parkinson's Progression Markers Initiative (PPMI) (2016) (61)
Linkage, whole genome sequence, and biological data implicate variants in RAB10 in Alzheimer’s disease resilience (2017) (61)
Genetic Variability in CLU and Its Association with Alzheimer's Disease (2010) (61)
The role of variation at AβPP, PSEN1, PSEN2, and MAPT in late onset Alzheimer's disease. (2012) (61)
Genomewide SNP assay reveals mutations underlying Parkinson disease (2008) (60)
Plasma 24-metabolite Panel Predicts Preclinical Transition to Clinical Stages of Alzheimer’s Disease (2015) (60)
Another explanation for apparent epistasis (2014) (60)
Assessing the role of DRD5 and DYT1 in two different case–control series with primary blepharospasm (2007) (60)
SCA15 due to large ITPR1 deletions in a cohort of 333 white families with dominant ataxia. (2011) (60)
Association of α‐synuclein Rep1 polymorphism and Parkinson's disease: Influence of Rep1 on age at onset (2006) (60)
Conflicting results regarding the semaphorin gene (SEMA5A) and the risk for Parkinson disease. (2006) (59)
Genetic variation associated with circulating monocyte count in the eMERGE Network. (2013) (59)
The Effect of Survival Bias on Case-Control Genetic Association Studies of Highly Lethal Diseases (2011) (59)
Genome-wide association studies in neurological disorders (2008) (58)
Arguing against the proposed definition changes of PD (2016) (58)
A duplication at chromosome 11q12.2–11q12.3 is associated with spinocerebellar ataxia type 20 (2008) (58)
Imputation of Variants from the 1000 Genomes Project Modestly Improves Known Associations and Can Identify Low-frequency Variant - Phenotype Associations Undetected by HapMap Based Imputation (2013) (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)
A 6.4 Mb duplication of the α-synuclein locus causing frontotemporal dementia and Parkinsonism: phenotype-genotype correlations. (2014) (58)
Advancing age is associated with gene expression changes resembling mTOR inhibition: Evidence from two human populations (2012) (57)
Exome sequencing in Brown-Vialetto-van Laere syndrome. (2010) (57)
Next-generation sequencing reveals substantial genetic contribution to dementia with Lewy bodies (2016) (57)
Refinement of the PARK3 locus on chromosome 2p13 and the analysis of 14 candidate genes (2001) (55)
Clinical, pathological and functional characterization of riboflavin-responsive neuropathy (2017) (55)
Case‐control study of the extended tau gene haplotype in Parkinson's disease (2001) (55)
Next generation sequencing techniques in neurological diseases: redefining clinical and molecular associations (2014) (54)
Age-associated changes in gene expression in human brain and isolated neurons (2013) (53)
Fine-Mapping, Gene Expression and Splicing Analysis of the Disease Associated LRRK2 Locus (2013) (53)
Sequential Use of Transcriptional Profiling, Expression Quantitative Trait Mapping, and Gene Association Implicates MMP20 in Human Kidney Aging (2009) (53)
FTO Genotype and Aging: Pleiotropic Longitudinal Effects on Adiposity, Brain function, Impulsivity and Diet (2014) (53)
Genetic risk of Parkinson disease and progression: (2019) (53)
Variation in tau isoform expression in different brain regions and disease states (2013) (53)
Analysis of Parkinson disease patients from Portugal for mutations in SNCA, PRKN, PINK1 and LRRK2 (2008) (52)
Lack of G2019S LRRK2 mutation in a cohort of Taiwanese with sporadic Parkinson's disease (2006) (52)
A rare truncating mutation in ADH1C (G78Stop) shows significant association with Parkinson disease in a large international sample. (2005) (52)
POLG1 polyglutamine tract variants associated with Parkinson's disease (2010) (52)
Candidate Gene Polymorphisms for Ischemic Stroke (2009) (51)
Lack of evidence for a genetic association between FGF20 and Parkinson's disease in Finnish and Greek patients (2005) (51)
Large C9orf72 repeat expansions are not a common cause of Parkinson's disease (2012) (51)
Large-scale pathway specific polygenic risk and transcriptomic community network analysis identifies novel functional pathways in Parkinson disease (2020) (51)
The Parkinson's Disease Genome‐Wide Association Study Locus Browser (2020) (50)
Additional rare variant analysis in Parkinson’s disease cases with and without known pathogenic mutations: evidence for oligogenic inheritance (2016) (50)
Lack of association with TorsinA haplotype in German patients with sporadic dystonia (2006) (49)
Initial Assessment of the Pathogenic Mechanisms of the Recently Identified Alzheimer Risk Loci (2013) (49)
Human Obesity Associated with an Intronic SNP in the Brain-Derived Neurotrophic Factor Locus. (2015) (48)
Rare and Coding Region Genetic Variants Associated With Risk of Ischemic Stroke: The NHLBI Exome Sequence Project. (2015) (48)
Use of support vector machines for disease risk prediction in genome‐wide association studies: Concerns and opportunities (2012) (48)
Genetic modifiers of risk and age at onset in GBA associated Parkinson’s disease and Lewy body dementia (2019) (47)
Parkinson’s disease: From human genetics to clinical trials (2015) (47)
Tremor dominant parkinsonism: Clinical description and LRRK2 mutation screening (2008) (47)
Cell population-specific expression analysis of human cerebellum (2012) (47)
Novel age-associated DNA methylation changes and epigenetic age acceleration in middle-aged African Americans and whites (2019) (46)
CYP2D6 is associated with Parkinson's disease but not with dementia with Lewy Bodies or Alzheimer's disease. (1999) (46)
Trans-ethnic meta-analysis of white blood cell phenotypes. (2014) (46)
Towards a gene expression biomarker set for human biological age (2013) (46)
A genome-wide screening and SNPs-to-genes approach to identify novel genetic risk factors associated with frontotemporal dementia (2015) (46)
Principal-component analysis for assessment of population stratification in mitochondrial medical genetics. (2010) (46)
Case‐Control study of dopamine transporter‐1, monoamine oxidase‐B, and catechol‐O‐methyl transferase polymorphisms in Parkinson's disease (2002) (45)
Altered α-synuclein homeostasis causing Parkinson's disease: the potential roles of dardarin (2005) (45)
Altered alpha-synuclein homeostasis causing Parkinson's disease: the potential roles of dardarin. (2005) (45)
A rare loss-of-function variant of ADAM17 is associated with late-onset familial Alzheimer disease (2018) (45)
Rare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositis (2016) (45)
Primary hyperhidrosis--evidence for autosomal dominant inheritance. (2003) (45)
Genetic players in multiple system atrophy: unfolding the nature of the beast (2011) (45)
Novel Loci Associated With PR Interval in a Genome-Wide Association Study of 10 African American Cohorts (2012) (45)
A comprehensive analysis of SNCA‐related genetic risk in sporadic parkinson disease (2018) (44)
The Val158Met COMT polymorphism is a modifier of the age at onset in Parkinson's disease with a sexual dimorphism (2013) (43)
Genome-wide estimate of the heritability of Multiple System Atrophy. (2016) (43)
The analysis of C9orf72 repeat expansions in a large series of clinically and pathologically diagnosed cases with atypical parkinsonism☆ (2015) (43)
A dominant mutation in FBXO38 causes distal spinal muscular atrophy with calf predominance. (2013) (43)
Genetics of early-onset Parkinson's disease in Finland: exome sequencing and genome-wide association study (2017) (43)
An exploratory analysis on gene-environment interactions for Parkinson disease (2012) (43)
Lack of association of the α2-macroglobulin locus on chromosome 12 in AD (2000) (43)
LRRK2 exonic variants and risk of multiple system atrophy (2014) (42)
Identical twins with the C9orf72 repeat expansion are discordant for ALS (2014) (42)
Association of Tau Haplotype-Tagging Polymorphisms with Parkinson’s Disease in Diverse Ethnic Parkinson’s Disease Cohorts (2007) (41)
Knowledge gaps and research recommendations for essential tremor. (2016) (41)
The TOR1A polymorphism rs1182 and the risk of spread in primary blepharospasm (2009) (41)
Analysis of SCA-2 and SCA-3 repeats in Parkinsonism: Evidence of SCA-2 expansion in a family with autosomal dominant Parkinson's disease (2005) (41)
Functionalization of the TMEM175 p.M393T variant as a risk factor for Parkinson disease (2019) (41)
Testing association between LRRK2 and Parkinson’s disease and investigating linkage disequilibrium (2005) (41)
Modafinil for fatigue in MS : A randomized placebo- controlled double-blind study. Authors' reply (2005) (41)
Genetic susceptibility in Parkinson's disease. (2009) (40)
Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis (2020) (40)
Parkin disease in a Brazilian kindred: Manifesting heterozygotes and clinical follow‐up over 10 years (2005) (40)
Shared biological pathways for frailty and cognitive impairment: A systematic review (2018) (39)
Whole‐exome sequencing of the BDR cohort: evidence to support the role of the PILRA gene in Alzheimer's disease (2018) (39)
Nitric oxide synthase gene polymorphisms in Alzheimer's disease and dementia with Lewy bodies (2001) (39)
Differences in the Presentation and Progression of Parkinson's Disease by Sex (2020) (39)
Impact of Ancestry and Common Genetic Variants on QT Interval in African Americans (2012) (39)
ABCA7 p.G215S as potential protective factor for Alzheimer's disease (2016) (38)
Primary hyperhidrosis (2003) (38)
Clinical heterogeneity and genotype‐phenotype correlations in hereditary spastic paraplegia because of Spatacsin mutations (SPG11) (2008) (38)
Analysis of the PINK1 gene in a cohort of patients with sporadic early-onset parkinsonism in Taiwan (2006) (38)
Mutations in neurofilament genes are not a significant primary cause of non-SOD1-mediated amyotrophic lateral sclerosis (2006) (38)
Exome sequencing in an SCA14 family demonstrates its utility in diagnosing heterogeneous diseases (2012) (38)
Clinical and Dopamine Transporter Imaging Characteristics of Leucine Rich Repeat Kinase 2 (LRRK2) and Glucosylceramidase Beta (GBA) Parkinson's Disease Participants in the Parkinson's Progression Markers Initiative: A Cross‐Sectional Study (2020) (38)
Structural genomic variation in ischemic stroke (2008) (38)
Nature versus Nurture: Death of a Dogma, and the Road Ahead (2010) (37)
Parkinson’s disease determinants, prediction and gene–environment interactions in the UK Biobank (2020) (37)
Mutation analysis of patients with neurodegenerative disorders using NeuroX array (2015) (37)
Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy (2013) (37)
Mendelian Randomization Study Shows No Causal Relationship Between Circulating Urate Levels and Parkinson’s Disease (2018) (37)
Identification of PSEN1 and PSEN2 gene mutations and variants in Turkish dementia patients (2012) (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)
Apolipoprotein E4 is probably responsible for the chromosome 19 linkage peak for Parkinson's disease (2005) (36)
Fine‐Mapping of SNCA in Rapid Eye Movement Sleep Behavior Disorder and Overt Synucleinopathies (2020) (36)
Analysis of familial and sporadic restless legs syndrome in age of onset, gender, and severity features (2004) (36)
Clinical heterogeneity of ATP13A2 linked disease (Kufor-Rakeb) justifies a PARK designation (2007) (36)
No clear support for a role for vitamin D in Parkinson's disease: A Mendelian randomization study (2017) (35)
Exome sequencing identifies 2 novel presenilin 1 mutations (p.L166V and p.S230R) in British early-onset Alzheimer's disease☆ (2014) (35)
Change in Epigenome-Wide DNA Methylation Over 9 Years and Subsequent Mortality: Results From the InCHIANTI Study. (2016) (35)
Apolipoprotein E and alpha‐1 antichymotrypsin polymorphism genotyping in Alzheimer's disease and in dementia with Lewy bodies Distinctions between diseases (1998) (35)
NOTCH3 Variants and Risk of Ischemic Stroke (2013) (35)
Canine Hereditary Ataxia in Old English Sheepdogs and Gordon Setters Is Associated with a Defect in the Autophagy Gene Encoding RAB24 (2014) (35)
Siblings With Ischemic Stroke Study: Results of a Genome-Wide Scan for Stroke Loci (2011) (35)
Genome-wide association study of obsessive-compulsive disorder (2013) (33)
Common Variants Within Oxidative Phosphorylation Genes Influence Risk of Ischemic Stroke and Intracerebral Hemorrhage (2013) (33)
Transcriptomic profiling of the human brain reveals that altered synaptic gene expression is associated with chronological aging (2017) (33)
Paraoxonase 1 (PON1) gene polymorphisms and Parkinson’s disease in a Finnish population (2004) (33)
Clinical features, with video documentation, of the original familial lewy body parkinsonism caused by α‐synuclein triplication (Iowa kindred) (2011) (33)
Pathology of early-onset Alzheimer's disease cases bearing the Thr113-114ins presenilin-1 mutation. (2000) (32)
Fine-mapping, novel loci identification, and SNP association transferability in a genome-wide association study of QRS duration in African Americans. (2016) (32)
LRRK2 mediates microglial neurotoxicity via NFATc2 in rodent models of synucleinopathies (2020) (32)
A systematic screening to identify de novo mutations causing sporadic early-onset Parkinson's disease (2015) (32)
Genome Wide Assessment of Young Onset Parkinson’s Disease from Finland (2012) (32)
Polymorphism in the human DJ-1 gene is not associated with sporadic dementia with Lewy bodies or Parkinson's disease (2003) (32)
Accelerating Medicines Partnership: Parkinson's Disease. Genetic Resource (2020) (31)
Comprehensive assessment of PINK1 variants in Parkinson's disease (2020) (31)
Mendelian adult-onset leukodystrophy genes in Alzheimer's disease: critical influence of CSF1R and NOTCH3 (2018) (31)
Mutational analysis of the VCP gene in Parkinson's disease (2012) (31)
IL1RN VNTR Polymorphism in Ischemic Stroke: Analysis in 3 Populations (2007) (31)
Exome sequencing in Parkinson's disease (2011) (31)
Leukocyte CCR2 expression is associated with mini-mental state examination score in older adults. (2012) (31)
Penetrance of Parkinson's Disease in LRRK2 p.G2019S Carriers Is Modified by a Polygenic Risk Score (2020) (31)
The Parkinson's Disease Mendelian Randomization Research Portal (2019) (31)
Genome-wide meta-analysis of observational studies shows common genetic variants associated with macronutrient intake 1 – 4 (2013) (30)
Susceptibility loci for pigmentation and melanoma in relation to Parkinson's disease (2014) (30)
CCAAT‐enhancer‐binding protein‐beta expression in vivo is associated with muscle strength (2012) (30)
Telementoring with project ECHO: a pilot study in Europe (2017) (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)
A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers (2018) (30)
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)
Susceptible genes and disease mechanisms identified in frontotemporal dementia and frontotemporal dementia with Amyotrophic Lateral Sclerosis by DNA-methylation and GWAS (2017) (29)
Mutation analysis of patients with neuronal intermediate filament inclusion disease (NIFID) (2006) (29)
Genetic variability and potential effects on clinical trial outcomes: perspectives in Parkinson’s disease (2018) (29)
Multiple system atrophy is not caused by C9orf72 hexanucleotide repeat expansions (2015) (29)
Comprehensive Screening of a North American Parkinson’s Disease Cohort for LRRK2 Mutation (2007) (29)
Multiple system atrophy: the application of genetics in understanding etiology (2015) (28)
Multi-infarct dementia of Swedish type is caused by a 3'UTR mutation of COL4A1. (2017) (28)
Common genetic variation near the connexin-43 gene is associated with resting heart rate in African Americans: a genome-wide association study of 13,372 participants. (2013) (28)
Exome sequencing: an efficient diagnostic tool for complex neurodegenerative disorders (2013) (28)
Polygenic risk score in postmortem diagnosed sporadic early-onset Alzheimer's disease (2018) (28)
Influence of Coding Variability in APP-Aβ Metabolism Genes in Sporadic Alzheimer’s Disease (2016) (27)
Linkage disequilibrium and association analysis of alpha-synuclein and alcohol and drug dependence in two American Indian populations. (2007) (27)
Insufficient evidence for pathogenicity of SNCA His50Gln (H50Q) in Parkinson's disease (2017) (27)
A CRISPRi/a platform in human iPSC-derived microglia uncovers regulators of disease states (2022) (27)
Genome-wide assessment of Parkinson's disease in a Southern Spanish population (2016) (27)
Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis (2021) (27)
Neurofibrillary tau pathology modulated by genetic variation of α‐synuclein (2008) (26)
Progress in the Genetic Analysis of Parkinson's Disease. (2019) (26)
Head injury, potential interaction with genes, and risk for Parkinson's disease. (2015) (26)
Coding variation in GBA explains the majority of the SYT11‐GBA Parkinson's disease GWAS locus (2018) (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)
Author Correction: Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing (2019) (26)
Exercise‐induced dystonia as a preceding symptom of familial Parkinson's disease (2004) (26)
Confirmation of the protective effect of iNOS in an independent cohort of Parkinson disease (2004) (26)
Analysis of neurodegenerative disease-causing genes in dementia with Lewy bodies (2020) (25)
Tackling neurodegenerative diseases with genomic engineering: A new stem cell initiative from the NIH (2021) (25)
EIF4G1 mutations do not cause Parkinson's disease (2015) (25)
Heritability and genetic variance of dementia with Lewy bodies (2018) (25)
Alpha2-macroglobulin polymorphisms in Alzheimer's disease and dementia with Lewy bodies. (1999) (24)
Correction: Identification, Replication, and Fine-Mapping of Loci Associated with Adult Height in Individuals of African Ancestry (2011) (24)
The Genetic Architecture of Parkinson Disease in Spain: Characterizing Population‐Specific Risk, Differential Haplotype Structures, and Providing Etiologic Insight (2019) (24)
Genome-wide admixture and association study of serum iron, ferritin, transferrin saturation and total iron binding capacity in African Americans. (2015) (24)
Smoking‐responsive juvenile‐onset Parkinsonism (2007) (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)
LRP gene and late-onset Alzheimer's disease (1998) (24)
Genetics of low spinal muscular atrophy carrier frequency in sub‐Saharan Africa (2014) (23)
BDNF tagging polymorphisms and haplotype analysis in sporadic Parkinson's disease in diverse ethnic groups (2007) (23)
Lack of aggregation of ischemic stroke subtypes within affected sibling pairs (2007) (23)
Hereditary spastic paraplegia and amyotrophy associated with a novel locus on chromosome 19 (2010) (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)
Normal localization of ΔF323-Y328 mutant torsinA in transfected human cells (2002) (23)
Genome-wide association study of neocortical Lewy-related pathology (2015) (23)
Kinase signaling pathways as potential targets in the treatment of Parkinson’s disease (2007) (22)
Assessment of Parkinson's disease risk loci in Greece (2014) (22)
Whole blood gene expression and interleukin-6 levels. (2014) (22)
Clinical and genetic analyses of familial and sporadic frontotemporal dementia patients in Southern Italy (2017) (22)
Investigation of Autosomal Genetic Sex Differences in Parkinson's Disease (2021) (22)
SLC25A46 Mutations Associated with Autosomal Recessive Cerebellar Ataxia in North African Families (2017) (22)
Investigation of Autosomal Genetic Sex Differences in Parkinson's Disease (2021) (22)
SNCA and mTOR Pathway Single Nucleotide Polymorphisms Interact to Modulate the Age at Onset of Parkinson's Disease (2019) (22)
Kohlschütter–Tönz Syndrome: Mutations in ROGDI and Evidence of Genetic Heterogeneity (2013) (22)
Assessing the relationship between monoallelic PRKN mutations and Parkinson’s risk (2021) (21)
Parkinson's Disease and Low Frequency Alleles Found Together Throughout LRRK2 (2009) (21)
Defining the ends of Parkin exon 4 deletions in two different families with Parkinson's disease (2005) (21)
Cooperative Genome-Wide Analysis Shows Increased Homozygosity in Early Onset Parkinson's Disease (2012) (21)
Penetrance of Parkinson’s disease in LRRK2 p.G2019S carriers is modified by a polygenic risk score (2019) (21)
Using genome-wide complex trait analysis to quantify 'missing heritability' in Parkinsons disease (vol 22, pg 1696, 2013) (2013) (21)
Assessment of a DJ-1 (PARK7) polymorphism in Finnish PD (2003) (21)
DYT16: the original cases (2012) (21)
Mutation analysis of sporadic early-onset Alzheimer's disease using the NeuroX array (2017) (21)
Association of integrin alpha2 gene variants with ischemic stroke. (2008) (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)
Shared mechanisms for cognitive impairment and physical frailty: A model for complex systems (2020) (21)
Identification of sixteen novel candidate genes for late onset Parkinson’s disease (2021) (21)
Ethnic Differences and Disease Phenotypes (2003) (21)
A Genomic Profile of the Immune Response to Stroke With Implications for Stroke Recovery (2015) (21)
Predicting onset, progression, and clinical subtypes of Parkinson disease using machine learning (2018) (21)
Anticholinergic Drug Induced Cognitive and Physical Impairment: Results from the InCHIANTI Study. (2018) (20)
Mutation Frequency of the Major Frontotemporal Dementia Genes, MAPT, GRN and C9ORF72 in a Turkish Cohort of Dementia Patients (2016) (20)
Mutational analysis of parkin and PINK1 in multiple system atrophy (2011) (20)
Rare variants analysis of cutaneous malignant melanoma genes in Parkinson's disease (2016) (20)
Erratum: New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk (Nature Genetics (2010) 42 (105-116)) (2010) (20)
Smell testing is abnormal in 'lubag' or X-linked dystonia-parkinsonism: a pilot study. (2004) (19)
Multi-modality machine learning predicting Parkinson’s disease (2021) (19)
Lack of association of the alpha2-macroglobulin locus on chromosome 12 in AD. (2000) (19)
APOE and AβPP gene variation in cortical and cerebrovascular amyloid-β pathology and Alzheimer's disease: a population-based analysis. (2011) (19)
The Birth of the Modern Era of Parkinson’s Disease Genetics (2017) (19)
PANK2 gene analysis confirms genetic heterogeneity in neurodegeneration with brain iron accumulation (NBIA) but mutations are rare in other types of adult neurodegenerative disease (2006) (19)
Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function (2018) (19)
Genetic risk factors in Finnish patients with Parkinson's disease. (2017) (19)
Is the MC1R variant p.R160W associated with Parkinson's? (2016) (18)
Glucocerebrosidase mutations are not found in association with LRRK2 G2019S in subjects with parkinsonism (2006) (18)
NFAT5 and SLC4A10 Loci Associate with Plasma Osmolality. (2017) (18)
CHCHD2 and Parkinson's disease (2015) (18)
Analysis of DNM3 and VAMP4 as genetic modifiers of LRRK2 Parkinson’s disease (2019) (18)
Establishing the role of rare coding variants in known Parkinson's disease risk loci (2017) (17)
Butyrylcholinesterase K: an association with dementia with Lewy bodies (1998) (17)
Gene expression markers of age-related inflammation in two human cohorts (2015) (17)
Genetic and Phenotypic Basis of Autosomal Dominant Parkinson's Disease in a Large Multi-Center Cohort (2020) (17)
Peripheral Blood Transcriptomic Signatures of Fasting Glucose and Insulin Concentrations (2016) (17)
Common lipid-altering gene variants are associated with therapeutic intervention thresholds of lipid levels in older people (2009) (17)
Alzheimer risk loci and associated neuropathology in a population-based study (Vantaa 85+) (2018) (17)
No association between an intronic polymorphism in the presenilin-1 gene and Alzheimer's disease (1997) (16)
Analysis of repeated leukocyte DNA methylation assessments reveals persistent epigenetic alterations after an incident myocardial infarction (2018) (16)
Comprehensive promoter level expression quantitative trait loci analysis of the human frontal lobe (2016) (16)
Screening exons 16 and 17 of the amyloid precursor protein gene in sporadic early-onset Alzheimer's disease (2016) (16)
The human prion gene M129V polymorphism is not associated with idiopathic Parkinson's disease in three distinct populations (2006) (16)
Mutation at the SCA17 locus is not a common cause of parkinsonism. (2003) (16)
Amyotrophic Lateral Sclerosis: An Emerging Era of Collaborative Gene Discovery (2007) (16)
A comprehensive screening of copy number variability in dementia with Lewy bodies (2019) (16)
Parkinson disease age of onset GWAS: defining heritability, genetic loci and a-synuclein mechanisms (2018) (16)
Presenilin polymorphisms in Alzheimer's disease (1997) (15)
Erratum: Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11 (2008) (15)
A comprehensive assessment of benign genetic variability for neurodegenerative disorders (2018) (15)
Characterization of Recessive Parkinson Disease in a Large Multicenter Study (2020) (15)
A Case of Dementia With PRNP D178Ncis-129M and No Insomnia (2009) (15)
The genetic architecture of Parkinson disease in Spain: characterizing population-specific risk, differential haplotype structures, and providing etiologic insight (2019) (15)
Genomic Risk Profiling of Ischemic Stroke: Results of an International Genome-Wide Association Meta-Analysis (2011) (15)
Mutations in EIF4G1 are not a common cause of Parkinson's disease (2013) (15)
Exome sequencing expands the mutational spectrum of SPG8 in a family with spasticity responsive to l-DOPA treatment (2013) (14)
Assessment of PINK1 (PARK6) polymorphisms in Finnish PD (2006) (14)
The Parkinson’s Disease Mendelian Randomization Research Portal (2019) (14)
A CRISPRi/a platform in iPSC-derived microglia uncovers regulators of disease states (2021) (14)
- 1-Sequential Use of Transcriptional Profiling , Expression Quantitative Trait Mapping and Gene Association Implicates MMP 20 in Human Kidney Aging Running Head : eQTLs and Kidney Aging (2009) (14)
Genome-Wide Association Analysis of the Sense of Smell in U.S. Older Adults: Identification of Novel Risk Loci in African-Americans and European-Americans (2017) (14)
Biochemical characterization of torsinB. (2004) (14)
Sequencing analysis of the ITPR1 gene in a pure autosomal dominant spinocerebellar ataxia series (2010) (14)
Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information (2020) (14)
Analysis of C9orf72 repeat expansions in a large international cohort of dementia with Lewy bodies (2017) (13)
Genome-Wide Association Study Meta-Analysis for Parkinson Disease Motor Subtypes (2020) (13)
Blepharospasm: A genetic screening study in 132 patients. (2019) (13)
LRP10 in α-synucleinopathies (2018) (13)
LRP10 in α-synucleinopathies (2018) (12)
Gene transcripts associated with muscle strength: a CHARGE meta-analysis of 7,781 persons (2015) (12)
Association of a common genetic variant with Parkinson’s disease is mediated by microglia (2022) (12)
Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia (2017) (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)
Progranulin mutations and ALS or ALS-FTD phenotypes (2007) (12)
Feasibility and safety of lumbar puncture in the Parkinson's disease research participants: Parkinson's Progression Marker Initiative (PPMI). (2019) (12)
A candidate gene study of risk for dementia in older, postmenopausal women: Results from the Women's Health Initiative Memory Study (2019) (12)
No association between a polymorphism in the presenilin 1 gene and dementia with Lewy bodies (1997) (11)
Unaltered α-synuclein blood levels in juvenile Parkinsonism with a parkin exon 4 deletion (2005) (11)
Normal localization of deltaF323-Y328 mutant torsinA in transfected human cells. (2002) (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)
POTENTIAL ROLE OF CERAMIDE METABOLISM IN LEWY BODY DISEASE (2009) (11)
The Future of Genetic Analysis of Neurological Disorders (2000) (11)
Genome-wide estimates of heritability and genetic correlations in Essential Tremor (2019) (10)
A Novel Splice-Acceptor Site Mutation in GRN (c.709-2 A>T) Causes Frontotemporal Dementia Spectrum in a Large Family from Southern Italy. (2016) (10)
Discovery and fine-mapping of height loci via high-density imputation of GWASs in individuals of African ancestry. (2021) (10)
Juvenile onset Parkinsonism with "pure nigral" degeneration and POLG1 mutation. (2016) (10)
Genome-wide Meta-analysis on the Sense of Smell Among US Older Adults (2015) (10)
A common mutation in idiopathic Parkinson's disease (2005) (10)
A Bayesian mathematical model of motor and cognitive outcomes in Parkinson’s disease (2017) (10)
Rare variants in SQSTM 1 and VCP genes and risk of sporadic inclusion body myositis (2016) (10)
Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease (vol 41, pg 1088, 2009) (2013) (10)
Linkage and Association Analyses of Type 2 Diabetes/Impaired Glucose Metabolism and Adiponectin Serum Levels in Japanese Americans From Hawaii (2007) (10)
Targeting α -synuclein for treating Parkinson’s disease: mechanistic and therapeutic considerations (2017) (9)
Whole genome association studies: Deciding when persistence becomes perseveration (2008) (9)
French Parkinson's Disease Genetics Study Group are Y. Agid, (2005) (9)
Association of a Common Genetic Variant with Parkinson’s Disease is Propagated through Microglia (2021) (9)
Genetic diversity is a predictor of mortality in humans (2014) (9)
Mendelian Randomisation Study of Smoking, Alcohol, and Coffee Drinking in Relation to Parkinson's Disease. (2021) (9)
Characterization of Recessive Parkinson Disease in a Large Multicenter Study. (2020) (9)
Evidence for GRN connecting multiple neurodegenerative diseases. (2021) (9)
The Parkinson's Disease DNA Variant Browser (2020) (9)
LRP10 in α-synucleinopathies (2018) (9)
Lysosomal storage disorder gene variants in multiple system atrophy. (2018) (9)
Whole-genome sequencing to understand the genetic architecture of common gene expression and biomarker phenotypes (2014) (9)
Virus exposure and neurodegenerative disease risk across national biobanks (2022) (9)
Parkin‐related disease clinically diagnosed as a pallido‐pyramidal syndrome (2009) (9)
Using DNA Methylation to Understand Biological Consequences of Genetic Variability (2011) (9)
A new gene for Parkinson's disease: should we care? (2015) (8)
Using genome-Wwide complex trait analysis to quantify 'missing heritability' in Parkinson's disease (2012) (8)
Novel GCH1 mutation in a Brazilian family with dopa‐responsive dystonia (2008) (8)
Unhealthy Behaviours and Risk of Parkinson’s Disease: A Mendelian Randomisation Study (2021) (8)
The commercial genetic testing landscape for Parkinson's disease. (2021) (8)
A 7.5‐Mb duplication at chromosome 11q21‐11q22.3 is associated with a novel spastic ataxia syndrome (2015) (8)
Prion genotypes in Central America suggest selection for the V129 allele (2006) (8)
Gene Expression Imputation Across Multiple Tissue Types Provides Insight Into the Genetic Architecture of Frontotemporal Dementia and Its Clinical Subtypes (2021) (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)
Coding and Noncoding Variation in LRRK2 and Parkinson's Disease Risk (2021) (8)
Splicing factor 3B1 hypomethylation is associated with altered SF3B1 transcript expression in older humans (2014) (8)
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 fully automated FAIMS-DIA proteomic pipeline for high-throughput characterization of iPSC-derived neurons (2021) (7)
The HapMap: charting a course for genetic discovery in neurological diseases. (2008) (7)
GenoML: Automated Machine Learning for Genomics (2021) (7)
Clinical Variability of SYNJ1-Associated Early-Onset Parkinsonism (2021) (7)
A Unified Process for Neurological Disease (2014) (7)
A Novel DYT-5 Mutation with Phenotypic Variability within a Colombian Family (2013) (7)
as potential protective factor for Alzheimer’s disease (2016) (7)
Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into the complex genetic architecture (2020) (7)
What's the FUS! (2009) (7)
CURRENT CONCEPTS Genomewide Association Studies and Human Disease (2009) (7)
Multimodal neuroimaging and behavioral assessment of α-synuclein polymorphism rs356219 in older adults (2018) (7)
Mutation of the Parkin gene in a Persian family: Clinical progression over a 40‐year period (2005) (6)
Shared Genetics of Multiple System Atrophy and Inflammatory Bowel Disease (2020) (6)
Predicting progression in patients with Parkinson's disease (2017) (6)
Tendency towards being a “Morning person” increases risk of Parkinson’s disease: evidence from Mendelian randomisation (2018) (6)
REPORTING AND INTERPRETATION OF GENETIC VARIANTS IN CASES AND CONTROLS (2007) (6)
LRRK2 mutations in a clinic‐based cohort of Parkinson's disease (2006) (6)
Yet another spinocerebellar ataxia (2008) (6)
Linkage, whole genome sequence, and biological data implicate variants in RAB10 in Alzheimer’s disease resilience (2017) (6)
A Mendelian randomisation study provides initial evidence that sex hormone binding globulin (SHBG) levels alter type 2 diabetes risk (2008) (6)
X-linked dystonia ("Lubag") presenting predominantly with parkinsonism: A more benign phenotype? (2002) (6)
Taiwanese cases of SCA2 are derived from a single founder (2005) (6)
SORL1 mutation in a Greek family with Parkinson's disease and dementia (2021) (6)
Unaltered alpha-synuclein blood levels in juvenile Parkinsonism with a parkin exon 4 deletion. (2005) (6)
Variability in clinical phenotypes of heterozygous and homozygous cases of Parkin-related Parkinson's disease (2013) (6)
No association between polymorphisms in the glutamate transporter SLC1A2 and Parkinson's disease (2013) (5)
Mutations in TYROBP are not a common cause of dementia in a Turkish cohort (2017) (5)
Learning the progression and clinical subtypes of Alzheimer's disease from longitudinal clinical data (2018) (5)
Finnish Parkinson’s disease study integrating protein-protein interaction network data with exome sequencing analysis (2019) (5)
The Foundational data initiative for Parkinson’s disease (FOUNDIN-PD): enabling efficient translation from genetic maps to mechanism (2021) (5)
Assessment of Genetic Association Between Parkinson Disease and Bipolar Disorder. (2020) (5)
Correction to: Linkage, whole genome sequence, and biological data implicate variants in RAB10 in Alzheimer’s disease resilience (2018) (5)
A population scale analysis of rare SNCA variation in the UK Biobank (2020) (5)
Genome-wide association studies and ALS: are we there yet? (2007) (4)
Deficiency in endocannabinoid synthase DAGLB contributes to early onset Parkinsonism and murine nigral dopaminergic neuron dysfunction (2022) (4)
X-linked recessive dystonia parkinsonism (XDP; Lubag; DYT3). (2004) (4)
Age-modulated association between prefrontal NAA and the BDNF gene. (2013) (4)
Regulation of mitophagy by the NSL complex underlies genetic risk for Parkinson’s disease at 16q11.2 and MAPT H1 loci (2022) (4)
High-resolution inference of genetic relationships among Jewish populations (2020) (4)
Effects of Multiple Genetic Loci on Age at Onset in Frontotemporal Dementia. (2016) (4)
Genome-wide association study of REM sleep behavior disorder identifies novel loci with distinct polygenic and brain expression effects (2021) (4)
Clinical, pathological and functional characterization of riboﬂavin-responsive neuropathy (2017) (4)
Genome-wide association study of REM sleep behavior disorder identifies polygenic risk and brain expression effects (2022) (4)
The reported healthy ageing gene expression score: lack of association in two cohorts (2015) (4)
Cross-Sectional and Longitudinal Validation of Serum Neurofilament Light Chain (NfL) as a Biomarker of Parkinson’s Disease Progression (2019) (4)
Polygenic Resilience Modulates the Penetrance of Parkinson Disease Genetic Risk Factors (2022) (4)
Genome-wide Association and Meta-analysis of Age at Onset in Parkinson Disease (2022) (4)
Genome-wide Association Study of Vitamin B6, Vitamin B12, Folate, and Homocysteine Blood Concentrations (DOI: 10.1016/j.ajhg.2009.02.011) (2009) (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)
What does PINK1 mean for Parkinson diseases? (2004) (4)
Common Variation in the b -Carotene 15,15 0 -Monooxygenase 1 Gene Affects Circulating Levels of Carotenoids: A Genome-wide Association Study (2009) (4)
Heterozygous PRKN mutations are common but do not increase the risk of Parkinson's disease (2021) (4)
Dairy Intake and Parkinson's Disease: A Mendelian Randomization Study (2022) (4)
Rapid genetic diagnosis in single‐gene movement disorders (2012) (3)
Discovery and functional prioritization of Parkinson’s disease candidate genes from large-scale whole exome sequencing (2017) (3)
Unhealthy Behaviours and Parkinson’s Disease: A Mendelian Randomisation Study (2020) (3)
LRRK2 AND PARKINSON’S DISEASE (2014) (3)
Dementia with Lewy bodies: no association of polymorphisms in the human synphilin gene (2004) (3)
Microvascular Pathology in Familial Multiinfarct Dementia or CADASIL: Implications for Cerebral Blood Flow (2001) (3)
Human-lineage-specific genomic elements are associated with neurodegenerative disease and APOE transcript usage (2021) (3)
Genome-Wide Association Study for Alzheimer's Disease Risk in a Large Cohort Of Clinically Characterized And Neuropathologically Verified Subjects (2010) (3)
Common Premutations in the General Population. (2019) (3)
Erratum to “The analysis of C9orf72 repeat expansions in a large series of clinically and pathologically diagnosed cases with atypical parkinsonism” [Neurobiol. Aging 36 (2015) 1221.e1–1221.e6] (2015) (3)
Parkinson disease and clathrin coat dynamics at synapses, why not? (2017) (3)
For complex disease genetics, collaboration drives progress (2015) (3)
Abstracts of the 110 th meeting of the British Neuropathological Society (2008) (3)
Low prevalence of PANK2 mutations in Brazilian patients with early onset generalised dystonia and basal ganglia abnormalities on MRI (2010) (3)
Mendelian randomization implies no direct causal association between leukocyte telomere length and amyotrophic lateral sclerosis (2020) (3)
Exploring dementia and neuronal ceroid lipofuscinosis genes in 100 FTD-like patients from 6 towns and rural villages on the Adriatic Sea cost of Apulia (2021) (3)
Longitudinal risk factors for developing depressive symptoms in Parkinson's disease (2021) (3)
Predicting Alzheimer’s disease progression trajectory and clinical subtypes using machine learning (2019) (3)
Genome-wide association study of Parkinson’s disease progression biomarkers in 12 longitudinal patients’ cohorts (2019) (3)
Discovery and functional prioritization of Parkinson’s disease candidate genes from large-scale whole exome sequencing (2017) (3)
The Discovery of LRRK2 Mutations as a Cause of Parkinson's Disease (2020) (3)
Correction: Genetic Evidence Implicates the Immune System and Cholesterol Metabolism in the Aetiology of Alzheimer's Disease (2011) (2)
Alzheimer Risk Variant Clusterin (CLU) and Brain Function During Aging (2011) (2)
Genome-wide contribution of common short-tandem repeats to Parkinson's disease genetic risk (2021) (2)
Large-scale pathway-specific polygenic risk, transcriptomic community networks and functional inferences in Parkinson disease (2020) (2)
Identification and prediction of Parkinson’s disease subtypes and progression using machine learning in two cohorts (2022) (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)
Genetics and Genomics of Parkinson's Disease (2010) (2)
The Interaction between HLA‐DRB1 and Smoking in Parkinson's Disease Revisited (2022) (2)
Cell population-specific expression analysis of human cerebellum (2012) (2)
The East Asian Parkinson Disease Genomics Consortium (2021) (2)
Fine-mapping of SNCA in REM sleep behavior disorder and overt synucleinopathies (2019) (2)
Establishing the genetic heterogeneity of familial hemiplegic migraine. (2007) (2)
Leucine rich repeat kinase knockout (LRRK KO) mouse model: Linking pathological hallmarks of inherited and sporadic Parkinson's disease (2018) (2)
Ecosystem Health and Human Health: Healthy Planet, Healthy Living* (2002) (2)
Susceptibility genes in movement disorders (2008) (2)
A simple and efficient algorithm for genome-wide homozygosity analysis in disease (2009) (2)
Does trans size matter in Huntington disease? (2012) (2)
Effect Modification between Genes and Environment and Parkinson's Disease Risk (2022) (2)
Longitudinal clinical and biomarker characteristics of non-manifesting LRRK2 G2019S carriers in the PPMI cohort (2022) (2)
Another locus, a new method. (2010) (2)
NFAT 5 and SLC 4 A 10 Loci Associate with Plasma Osmolality (2017) (1)
Subject Index Vol. 14, 2002 (2002) (1)
Genome‐Wide Analysis of Structural Variants in Parkinson Disease (2023) (1)
Tau expression varies in different brain regions and disease state (2013) (1)
Genome-wide Complex Trait Analysis (GCTA) as a method to quantify missing heritability in Parkinson's disease (2012) (1)
A CANDIDATE GENE STUDY OF GENETIC RISK FOR DEMENTIA AND MILD COGNITIVE IMPAIRMENT (MCI) IN WOMEN AGED >65 YEARS: RESULTS FROM THE WOMEN’S HEALTH INITIATIVE MEMORY STUDY (WHIMS) (2014) (1)
An Exploratory Analysis on Gene-Environment Interactions for Parkinson Disease (PD4.003) (2012) (1)
Make dopamine neurons great again: An exciting new therapeutic option in parkinson's disease (2017) (1)
Exome sequencing : making hay while the sun shines (2012) (1)
Comprehensive promoter level expression quantitative trait loci analysis of the human frontal lobe (2016) (1)
Evidence for GRN as part of a neuroinflammatory mechanism connecting common neurodegenerative diseases. (2020) (1)
Profiling the NOTCH2NLC GGC Repeat Expansion in Parkinson's Disease in the European Population (2022) (1)
Biomarkers of Parkinson's Disease: Screening Vital Signs and Routine Blood Tests (2020) (1)
The genetics of amyotrophic lateral sclerosis (2009) (1)
Mutations in the GCH1 Gene Are Associated with Parkinson Disease (S17.001) (2014) (1)
Genetics of Hereditary Ataxia in Scottish Terriers (2017) (1)
SQSTM1 and VCP mutations in a series of 205 inclusion body myositis cases (2015) (1)
Immune-related genetic enrichment in frontotemporal dementia (2017) (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)
Consensus Statement Parkinson’s Disease and the Environment Collaborative on Health and the Environment and Parkinson's Action Network (CHE PAN) Conference June 26–28, 2007 (2008) (1)
Deletion at ITPR1 underlies ataxia in mice and humans (SCA15) (2005) (1)
A proteogenomic view of Parkinson’s disease causality and heterogeneity (2023) (1)
Exploring the genetic and genomic connection underlying neurodegeneration with brain iron accumulation and the risk for Parkinson’s disease (2022) (1)
Genetics of Parkinson’s Disease (2015) (1)
Transcriptomic profiling of the human brain reveals that altered synaptic gene expression is associated with chronological aging (2017) (1)
Comprehensive assessment of PINK1 variants in Parkinson’s disease (2020) (1)
Genome-Wide Association Analysis of the Sense of Smell in US Older Adults: Identification of Novel Risk Loci in African-Americans and European-Americans (1)
Deletions at 22q11.2 in idiopathic Parkinson's disease: A combined analysis of GWAS data (2016) (1)
PLA2G6 as a locus for adult-onset dystonia-parkinsonism (2008) (1)
Correction to: Large‑scale pathway specific polygenic risk and transcriptomic community network analysis identifies novel functional pathways in Parkinson disease (2021) (1)
A Novel Splice Site Mutation in GRN (p.A237fs [A>T]) in a Large Italian Family With FTD From The Apulia-FTD Registry (P2.160) (2015) (1)
ASSESSING THE RELATIONSHIP BETWEEN MONOALLELIC PARK2 MUTATIONS AND PARKINSONS RISK (2020) (1)
The genetic basis of dementia in Parkinson’s disease (2010) (1)
Genome-wide analysis of Structural Variants in Parkinson’s Disease using Short-Read Sequencing data (2022) (1)
The Parkinson’s Disease GWAS Locus Browser (2020) (1)
Familiality in simple and complex disease (2003) (1)
4 The hidden burden of Hepatitis C related advanced liver disease in the community (2017) (0)
Reply (2004) (0)
identification of a novel mutation in ADRBK1 in a kindred with an autosomal dominant cerebellar ataxia (P6.402) (2016) (0)
Analysis of neurodegenerative disease-causing genes in dementia with Lewy bodies (2020) (0)
P48 Genetic and functional investigation of Brown-Vialetto-Van Laere syndrome and related neuropathies (2012) (0)
X‐linked Parkinson's disease (2015) (0)
ASSESSING THE RELATIONSHIP BETWEEN MONOALLELIC PRKN MUTATIONS AND PARKINSON’S RISK AUTHORSHIP (2020) (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)
TOLL-LIKE RECEPTOR ANTAGONISM AS A NOVEL ANTI-INFLAMMATORY THERAPEUTIC APPROACH FOR DUCHENNE MUSCULAR DYSTROPHY (2015) (0)
OP-BRAI180237 2895..2907 (2018) (0)
O05 Exome sequencing in three families with cytoplasmic body myopathy with early respiratory failure (2012) (0)
CHARGE meta-analysis of 7,781 persons Gene transcripts associated with muscle strength: a (2016) (0)
Screening Exon 16 and 17 of the Amyloid Precursor Protein Gene in Sporadic Early-Onset Alzheimer’s Disease (sEOAD) (2016) (0)
O03 High-dose riboflavin therapy in Brown-Vialetto-Van Laere syndrome: clinical and biochemical improvement (2012) (0)
LRRK2 and GBA1 variant carriers have higher urinary bis(monacylglycerol) phosphate concentrations in PPMI cohorts (2023) (0)
Genetic analysis on six Brazilian families with dopa responsive dystonia. (2007) (0)
Cognitive Decline in Presymptomatic Alzheimer Disease (2016) (0)
(2019). Parkinson’s Disease Mendelian Randomization Research (2019) (0)
Tau tubulin kinase 2, implicated by tau phosphorylation, contains mutations that segregate with spinocerebellar ataxia type II (2008) (0)
Investigating the genetic architecture of Dementia with Lewy bodies: a genome-wide association study (2018) (0)
A NEW GENETIC CAUSE OF PRIMARY COENZYME Q10 DEFICIENCY (2009) (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)
Familial Parkinsonism and early onset Parkinson's disease: Phenotypic and genotypic characterization in a Brazilian Movement Disorders clinic (2007) (0)
Abstracts from the 2012 BNOS Conference (2012) (0)
The hidden burden of hepatitis C related advanced liver disease in the community (2017) (0)
Genes and Parkinson's disease - A clinic-based study in a Portuguese cohort (2006) (0)
Exome sequencing in familial multiple system atrophy (2012) (0)
Finding Risk in All the Right Places (2013) (0)
Determination of the alpha-1 anti-chymotrypsin polymorphism in Alzheimer's disease (1996) (0)
Correction to: Linkage, whole genome sequence, and biological data implicate variants in RAB10 in Alzheimer’s disease resilience (2018) (0)
Tyrosinase exacerbates dopamine and α-synuclein toxicity but is not genetically associated with Parkinson's disease (2005) (0)
Genome-Wide Association Study of Gilles de la Tourette Syndrome (2012) (0)
Genome-Wide Association Study of Gilles de la Tourette Syndrome (IN10-1.002) (2012) (0)
EXOME SEQUENCING AS A RAPID AND COST EFFICIENT DIAGNOSTIC METHOD IN NEUROGENETIC DISORDERS (2011) (0)
Rare loss of function variants in candidate genes and risk of colorectal cancer (2018) (0)
Parkinson's Progression Markers Initiative brain autopsy program. (2022) (0)
Analysis of rare Parkinson’s disease variants in millions of people (2023) (0)
Gene transcripts associated with muscle strength : a CHARGE meta-analysis of 1 7 , 781 persons 2 3 (2015) (0)
CALCULATING POLYGENIC RISK FOR INDIVIDUALS WITH SPORADIC EARLY ONSET ALZHEIMER’S DISEASE (2017) (0)
Editorial Board (2017) (0)
Genome-Wide Association Analysis of the Sense of Smell in U.S. Older Adults: Identification of Novel Risk Loci in African-Americans and European-Americans (2016) (0)
LRRK2-mediated microglial activation via NFATc2: a novel mechanism of neurotoxic inflammation in synucleinopathies (2020) (0)
INVESTIGATION OF RIBOFLAVIN TRANSPORTER MUTATIONS IN BROWN-VIALETTO-VAN LAERE SYNDROME, A POTENTIALLY TREATABLE METABOLIC DISEASE (2012) (0)
P4-164 Molecular study of dementia with neurofilament inclusions (2004) (0)
DNA methylation signatures of chronic low-grade inflammation are associated with complex diseases (2016) (0)
Multi-modality machine learning predicting Parkinson’s disease (2022) (0)
Editorial Board (2017) (0)
P4-157 Genetic analysis of a the tau haplotype in the CEPH diversity panel and in Guam disease (2004) (0)
Editorial Board (2017) (0)
ESTABLISHING BIOLOGICAL PLAUSIBILITY FOR COGNITIVE FRAILTY: SYSTEMATIC REVIEW (2017) (0)
Report of an assessment of the information education and communication activities of Jamaicas National Family Planning Program. (1979) (0)
A genome-wide genetic pleiotropy approach identified shared loci between multiple system atrophy and inflammatory bowel disease (2019) (0)
Running title: Pfeiffer et al.; genome-wide DNA methylation and blood lipid levels (2015) (0)
VKučinskas-2001-2016 (2016) (0)
Variant biomarker discovery using mass spectrometry-based proteogenomics (2023) (0)
Mitochondrial impairment and rescue in riboflavin responsive neuropathy (2017) (0)
Genetic variation within genes associated with mitochondrial function is significantly associated with later age at onset of Parkinson disease and contributes to disease risk (2018) (0)
Obesity-related FTO gene and longitudinal changes in brain volume during aging (2013) (0)
Inflammatory Regulation as a Biomarker of Ischemic Stroke Diagnosis: Evidence From Gene Expression Profiling (2010) (0)
Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information (2020) (0)
Genome-wide Association and Meta-analysis of Age at Onset in Parkinson Disease (2022) (0)
MAPT allele and haplotype frequencies in Nigerian Africans: population distribution and association with Parkinson’s disease risk and age at onset (2023) (0)
Contents Vol. 14, 2002 (2002) (0)
LINKAGE AND WHOLE GENOME SEQUENCE ANALYSIS OF ALZHEIMER'S DISEASE RESILIENCE AND RISK (2016) (0)
Editorial Board (2017) (0)
Genome-wide association study using whole-genome sequencing identifies risk loci for Parkinson’s disease in Chinese population (2023) (0)
Mutations in parkinsonian syndromes (2007) (0)
Genome-wide Search for Ischemic Stroke Genes: The Siblings with Ischemic Stroke Study (SWISS) (2011) (0)
Genetic variation in the phosphodiesterase 4D gene is associated with ischemic stroke severity: The ISGS study (2007) (0)
The Evolution of Genetics Alzheimer and Parkinson diseases (2018) (0)
Alzheimer risk variant complement component (3b/4b) receptor-1 (CR1) and brain function during aging (2011) (0)
Genetic diversity is a predictor of mortality in humans (2014) (0)
Faculty Opinions recommendation of A de novo paradigm for mental retardation. (2011) (0)
Genome-wide association analysis of Dementia with Lewy bodies reveals unique genetic architecture (2017) (0)
VPS35: A new player in Parkinson's Disease (2011) (0)
INVESTIGATING SARM1 VARIANTS IN ALZHEIMER’S DISEASE COHORTS (2016) (0)
Genome-wide Analyses Id entify KIF 5 A as a Novel ALS Gene Highlights (2018) (0)
Analysis of repeated leukocyte DNA methylation assessments reveals persistent epigenetic alterations after an incident myocardial infarction (2018) (0)
Front & Back Matter (2012) (0)
[P3–107]: WITHDRAWN (2017) (0)
Investigation of Shared Genetic Risk Factors Between Parkinson's Disease and Cancers (2023) (0)
Analysis of the age-at-onset phenotype in a pilot genome-wide association study of ischemic stroke (2008) (0)
Analysis of Y Chromosome Haplogroups in Parkinson's Disease (2022) (0)
Title Plasma 24-metabolite panel predicts preclinical transition to clinical stages of Alzheimer ' s disease (2015) (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)
A paradoxical relationship between family history, onset age, and genetic risk in Parkinson's disease (2018) (0)
Gastrectomy and Nigrostriatal Dopaminergic Depletion in De Novo Parkinson’s Disease (2019) (0)
CHAPTER 100 – Parkinson's Disease: Genomic Perspectives (2009) (0)
Novel age-associated DNA methylation changes and epigenetic age acceleration in middle-aged African Americans and whites (2019) (0)
Abstract 189: Analysis of Hypertension Associated Genetic Variants in Stroke Cases and Controls (2012) (0)
LINKING POLYGENIC RISK SCORES TO ALZHEIMER'S DISEASE GENES (2018) (0)
Edinburgh Research Explorer Genetic risk of Parkinson disease and progression: (0)
One beginning, many ends: Mutations in one gene causing varied clinical entities (2011) (0)
analyses of exonic number variants in a family-based study point to novel autism susceptibility genes. (2009) (0)
Multimodal Neuroimaging and Behavioral Assessment of SNCA Polymorphism rs356219 in Older Adults (2018) (0)
The Impact of Ancestry and Common Genetic Variants on QT Interval in (2017) (0)
Abstract TP96: A Genomic Profile of Immune Mediated Mechanisms Associated with Stroke Recovery. (2013) (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)
Multimodal Neuroimaging Predictors of Gait Decline (2020) (0)
Association, expression, pathobiology (2008) (0)
Alzheimer's risk variants CR1 and apolipoprotein E interact to influence progression of Alzheimer's pathology in nondemented elderly (2012) (0)
Title : Polygenic risk score in post-mortem diagnosed sporadic early onset Alzheimer ’ s disease (2018) (0)
The IPDGC/GP2 Hackathon - an open science event for training in data science, genomics, and collaboration using Parkinson’s disease data (2022) (0)
Risk alleles, DNA methylation and gene expression (2009) (0)
Application of Aligned-UMAP to longitudinal biomedical studies (2022) (0)
Heterozygous PRKN mutations are common but do not increase the risk of Parkinson's disease. (2022) (0)
MULTI-INFARCT DEMENTIA OF SWEDISH TYPE IS CAUSED BY 3’UTR COL4A1 MUTATION (2017) (0)
Genetic and Phenotypic Characterisation of Autosomal Recessive Parkinson's Disease in a Large Multicentre Cohort (2019) (0)
Identifying likely causal connections between gene expression levels using a Mendelian randomization approach (2011) (0)
Moving beyond neurons: the role of cell type-specific gene regulation in Parkinson’s disease heritability (2019) (0)
SINGLETON, Andrew: Maryland/USA (2019) (0)
WITHDRAWN: Familial Degenerative Encephalopathy with Intracranial Calcification and Metaphyseal Dysplasia. (2008) (0)
Editorial Board (2010) (0)
The Foundational Data Initiative for Parkinson Disease: Enabling efficient translation from genetic maps to mechanism (2023) (0)
A response to: A novel multi-tissue RNA diagnostic of healthy ageing relates to (2015) (0)
CLINICAL AND BIOLOGICAL PREDICTORS FOR COGNITIVE FRAILTY: A POPULATION PREDICTIVE MODEL (2018) (0)
Identification of evolutionarily conserved gene networks mediating neurodegenerative dementia (2018) (0)
GENETIC CHARACTERIZATION OF A TURKISH DEMENTIA COHORT: FOCUS ON TYROBP (2017) (0)
Genome-wide DNA methylation analysis reveals several loci important for blood lipid levels (2015) (0)
Familial Variants of Parkinson’s Disease (2002) (0)
ENVIRONMENTAL PERSPECTIVES ENVIRONMENTAL PERSPECTIVES (2008) (0)
Results of NOTCH3 Sequencing in Siblings with Ischemic Stroke Study Probands (2011) (0)
Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing (2019) (0)
CRISPRi / a platform in iPSC-derived microglia uncovers regulators of disease states 1 2 (0)
LRRK2 regulates microglial neurotoxicity via NFATc2 in synucleinopathies (2019) (0)
Mitochondria function associated genes contribute to Parkinson’s Disease risk and later age at onset (2019) (0)
A candidate genes study of structural and functional brain aging in the Baltimore Longitudinal Study of Aging (2011) (0)
Susceptible genes and disease mechanisms identified in frontotemporal dementia and frontotemporal dementia with Amyotrophic Lateral Sclerosis by DNA-methylation and GWAS (2017) (0)
Increased BMI May Protect against Parkinson's Disease: Evidence From Mendelian Randomisation Study (2017) (0)
High-resolution inference of genetic relationships among Jewish populations (2020) (0)
Low prevalence of PANK2 mutations in Brazilian cases of neurodegeneration with brain iron accumulation (2007) (0)
The Gordon Research Seminar & Conference on Parkinson’s disease: state of the Science 200 years after James Parkinson’s essay on the Shaking Palsy (2017) (0)
omicSynth: an Open Multi-omic Community Resource for Identifying Druggable Targets across Neurodegenerative Diseases (2023) (0)

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