Alison Goate
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British neuroscientist
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Why Is Alison Goate Influential?
(Suggest an Edit or Addition)According to Wikipedia, Alison Mary Goate is a professor of neuroscience and Director of the Loeb Center for Alzheimer's Disease at Icahn School of Medicine at Mount Sinai, New York City. She was previously professor of genetics in psychiatry, professor of genetics, and professor of neurology at Washington University School of Medicine.
Alison Goate's Published Works
Published Works
- Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease (1991) (4571)
- 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)
- Clinical and biomarker changes in dominantly inherited Alzheimer's disease. (2012) (2815)
- TREM2 variants in Alzheimer's disease. (2013) (2173)
- A presenilin-1-dependent γ-secretase-like protease mediates release of Notch intracellular domain (1999) (2078)
- 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)
- 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)
- Analysis of shared heritability in common disorders of the brain (2016) (1385)
- 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)
- Alzheimer’s Disease: The Challenge of the Second Century (2011) (1159)
- Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing (2019) (1073)
- Human apoE Isoforms Differentially Regulate Brain Amyloid-β Peptide Clearance (2011) (997)
- Mutation-specific functional impairments in distinct tau isoforms of hereditary FTDP-17. (1998) (951)
- Alzheimer’s Disease Risk Genes and Mechanisms of Disease Pathogenesis (2015) (891)
- Cholinergic nicotinic receptor genes implicated in a nicotine dependence association study targeting 348 candidate genes with 3713 SNPs. (2007) (857)
- APOE predicts amyloid‐beta but not tau Alzheimer pathology in cognitively normal aging (2010) (777)
- Genome-wide search for genes affecting the risk for alcohol dependence. (1998) (738)
- Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease (2017) (693)
- Variations in GABRA2, encoding the alpha 2 subunit of the GABA(A) receptor, are associated with alcohol dependence and with brain oscillations. (2004) (659)
- Novel genes identified in a high-density genome wide association study for nicotine dependence. (2007) (649)
- Clinicopathologic studies in cognitively healthy aging and Alzheimer's disease: relation of histologic markers to dementia severity, age, sex, and apolipoprotein E genotype. (1998) (632)
- Variants in nicotinic receptors and risk for nicotine dependence. (2008) (612)
- TDP‐43 A315T mutation in familial motor neuron disease (2008) (610)
- Genome scan meta-analysis of schizophrenia and bipolar disorder, part III: Bipolar disorder. (2003) (592)
- Genetic Evidence Implicates the Immune System and Cholesterol Metabolism in the Aetiology of Alzheimer's Disease (2010) (587)
- A genome-wide association study of alcohol dependence (2010) (544)
- Identification of small-molecule inhibitors of Zika virus infection and induced neural cell death via a drug repurposing screen (2016) (531)
- The E280A presenilin 1 Alzheimer mutation produces increased Aβ42 deposition and severe cerebellar pathology (1996) (501)
- Serum neurofilament dynamics predicts neurodegeneration and clinical progression in presymptomatic Alzheimer’s disease (2019) (487)
- Serum neurofilament dynamics predicts neurodegeneration and clinical progression in presymptomatic Alzheimer’s disease (2019) (487)
- Pittsburgh compound B imaging and prediction of progression from cognitive normality to symptomatic Alzheimer disease. (2009) (470)
- The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families (1995) (461)
- TDP-43 in familial and sporadic frontotemporal lobar degeneration with ubiquitin inclusions. (2007) (436)
- Meta-analysis confirms CR1, CLU, and PICALM as alzheimer disease risk loci and reveals interactions with APOE genotypes. (2010) (426)
- Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer’s disease (2013) (418)
- Genetic linkage studies suggest that Alzheimer's disease is not a single homogeneous disorder (1990) (413)
- APOE4 Allele Disrupts Resting State fMRI Connectivity in the Absence of Amyloid Plaques or Decreased CSF Aβ42 (2010) (404)
- Susceptibility locus for Alzheimer's disease on chromosome 10. (2000) (397)
- Alzheimer’s Disease Genetics: From the Bench to the Clinic (2014) (383)
- A full genome scan for late onset Alzheimer's disease (1999) (383)
- Trans-ancestral GWAS of alcohol dependence reveals common genetic underpinnings with psychiatric disorders (2018) (372)
- GWAS on family history of Alzheimer’s disease (2018) (357)
- Clearance of amyloid-β by circulating lipoprotein receptors (2007) (356)
- Variants in the ATP-binding cassette transporter (ABCA7), apolipoprotein E ϵ4,and the risk of late-onset Alzheimer disease in African Americans. (2013) (345)
- White matter hyperintensities are a core feature of Alzheimer's disease: Evidence from the dominantly inherited Alzheimer network (2016) (341)
- Symptom onset in autosomal dominant Alzheimer disease (2014) (338)
- Longitudinal Change in CSF Biomarkers in Autosomal-Dominant Alzheimer’s Disease (2014) (335)
- Late onset Alzheimer’s disease genetics implicates microglial pathways in disease risk (2017) (332)
- GWAS of Cerebrospinal Fluid Tau Levels Identifies Risk Variants for Alzheimer’s Disease (2013) (332)
- Evidence of common and specific genetic effects: association of the muscarinic acetylcholine receptor M2 (CHRM2) gene with alcohol dependence and major depressive syndrome. (2004) (331)
- Regional variability of imaging biomarkers in autosomal dominant Alzheimer’s disease (2013) (318)
- Common polygenic variation enhances risk prediction for Alzheimer's disease. (2015) (316)
- Common genetic variants in the CLDN2 and PRSS1-PRSS2 loci alter risk for alcohol-related and sporadic pancreatitis (2012) (308)
- A polymorphism in the regulatory region of APOE associated with risk for Alzheimer's dementia (1998) (295)
- Linkage disequilibrium between the beta frequency of the human EEG and a GABAA receptor gene locus (2002) (294)
- Genome-wide association study of alcohol dependence implicates a region on chromosome 11. (2010) (292)
- A common haplotype lowers PU.1 expression in myeloid cells and delays onset of Alzheimer's disease (2017) (288)
- Exploring the etiology of Alzheimer disease using molecular genetics. (1997) (279)
- Excessive burden of lysosomal storage disorder gene variants in Parkinson’s disease (2017) (278)
- A Two-Stage Meta-Analysis Identifies Several New Loci for Parkinson's Disease (2011) (278)
- Genetic assessment of age-associated Alzheimer disease risk: Development and validation of a polygenic hazard score (2017) (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)
- A mutation in Alzheimer's disease destroying a splice acceptor site in the presenilin-1 gene (1995) (272)
- Evidence for novel susceptibility genes for late-onset Alzheimer's disease from a genome-wide association study of putative functional variants. (2007) (271)
- Rare Variants in APP, PSEN1 and PSEN2 Increase Risk for AD in Late-Onset Alzheimer's Disease Families (2012) (270)
- PREDISPOSING LOCUS FOR ALZHEIMER'S DISEASE ON CHROMOSOME 21 (1989) (267)
- The CHRNA5-CHRNA3-CHRNB4 nicotinic receptor subunit gene cluster affects risk for nicotine dependence in African-Americans and in European-Americans. (2009) (266)
- Expression of Novel Alzheimer’s Disease Risk Genes in Control and Alzheimer’s Disease Brains (2012) (266)
- Exercise and Alzheimer's disease biomarkers in cognitively normal older adults (2010) (263)
- Association of alcohol dehydrogenase genes with alcohol dependence: a comprehensive analysis. (2006) (262)
- Epigenetic regulation of brain region-specific microglia clearance activity (2018) (261)
- Collaborative meta-analysis finds no evidence of a strong interaction between stress and 5-HTTLPR genotype contributing to the development of depression (2017) (259)
- Alcoholism susceptibility loci: confirmation studies in a replicate sample and further mapping. (2000) (255)
- Cell Surface Presenilin-1 Participates in the γ-Secretase-like Proteolysis of Notch* (1999) (254)
- A soluble phosphorylated tau signature links tau, amyloid and the evolution of stages of dominantly inherited Alzheimer’s disease (2020) (252)
- A soluble phosphorylated tau signature links tau, amyloid and the evolution of stages of dominantly inherited Alzheimer’s disease (2020) (252)
- Exercise Engagement as a Moderator of the Effects of APOE Genotype on Amyloid Deposition. (2012) (248)
- New insights into the genetic etiology of Alzheimer’s disease and related dementias (2022) (246)
- A NOVEL ALZHEIMER DISEASE LOCUS LOCATED NEAR THE GENE ENCODING TAU PROTEIN (2015) (246)
- Coding variants in TREM2 increase risk for Alzheimer's disease. (2014) (245)
- Alzheimer's Therapeutics Targeting Amyloid Beta 1–42 Oligomers II: Sigma-2/PGRMC1 Receptors Mediate Abeta 42 Oligomer Binding and Synaptotoxicity (2014) (239)
- Statement on use of apolipoprotein E testing for Alzheimer disease. American College of Medical Genetics/American Society of Human Genetics Working Group on ApoE and Alzheimer disease. (1995) (238)
- Genetic association between intronic polymorphism in presenilin-1 gene and late-onset Alzheimer's disease (1996) (237)
- Multiple distinct risk loci for nicotine dependence identified by dense coverage of the complete family of nicotinic receptor subunit (CHRN) genes (2009) (234)
- An Efficient Platform for Astrocyte Differentiation from Human Induced Pluripotent Stem Cells (2017) (232)
- Genetic variation in the CHRNA5 gene affects mRNA levels and is associated with risk for alcohol dependence (2009) (230)
- Genome-Wide Association of Familial Late-Onset Alzheimer's Disease Replicates BIN1 and CLU and Nominates CUGBP2 in Interaction with APOE (2011) (226)
- TREM2 variant p.R47H as a risk factor for sporadic amyotrophic lateral sclerosis. (2014) (225)
- The Candidate Gene Approach (2000) (221)
- A common enzyme connects notch signaling and Alzheimer's disease. (2000) (221)
- Clearance of amyloid-beta by circulating lipoprotein receptors. (2007) (220)
- Clinical features of early-onset Alzheimer disease in a large kindred with an E280A presenilin-1 mutation. (1997) (215)
- Initial genome scan of the NIMH genetics initiative bipolar pedigrees: chromosomes 1, 6, 8, 10, and 12. (1997) (215)
- A genome screen of maximum number of drinks as an alcoholism phenotype. (2000) (210)
- Full genome screen for Alzheimer disease: stage II analysis. (2002) (209)
- A genome-wide search for genes that relate to a low level of response to alcohol. (2001) (209)
- Risk for nicotine dependence and lung cancer is conferred by mRNA expression levels and amino acid change in CHRNA5. (2009) (205)
- Integrative network analysis of nineteen brain regions identifies molecular signatures and networks underlying selective regional vulnerability to Alzheimer’s disease (2016) (204)
- Evidence for a locus on chromosome 1 that influences vulnerability to alcoholism and affective disorder. (2001) (204)
- Joint multipoint linkage analysis of multivariate qualitative and quantitative traits. II. Alcoholism and event-related potentials. (1999) (198)
- A presenilin dimer at the core of the γ-secretase enzyme: Insights from parallel analysis of Notch 1 and APP proteolysis (2003) (198)
- Increased in Vivo Amyloid-β42 Production, Exchange, and Loss in Presenilin Mutation Carriers (2013) (198)
- Protection against Alzheimer's disease with apoE ∈2 (1994) (197)
- ADH1B is associated with alcohol dependence and alcohol consumption in populations of European and African ancestry (2011) (197)
- Exceptionally low likelihood of Alzheimer’s dementia in APOE2 homozygotes from a 5,000-person neuropathological study (2019) (194)
- Nicotinic Receptor Gene Variants Influence Susceptibility to Heavy Smoking (2008) (189)
- HDDD2 is a familial frontotemporal lobar degeneration with ubiquitin‐positive, tau‐negative inclusions caused by a missense mutation in the signal peptide of progranulin (2006) (187)
- Cerebrospinal fluid APOE levels: an endophenotype for genetic studies for Alzheimer's disease. (2012) (187)
- Developing an international network for Alzheimer research: The Dominantly Inherited Alzheimer Network. (2012) (186)
- A Quantitative-Trait Genome-Wide Association Study of Alcoholism Risk in the Community: Findings and Implications (2011) (183)
- Autosomal dominant dementia with widespread neurofibrillary tangles (1997) (180)
- Evidence for a physical interaction between presenilin and Notch. (1999) (179)
- Initial genomic scan of the NIMH genetics initiative bipolar pedigrees: chromosomes 3, 5, 15, 16, 17, and 22. (1997) (174)
- Quantitative trait loci analysis of human event-related brain potentials: P3 voltage. (1998) (174)
- Clinical Features of Early-Onset Alzheimer Disease in a Large Kindred With an E280A Presenilin-1 Mutation (1997) (173)
- Presenilin 2 familial Alzheimer's disease mutations result in partial loss of function and dramatic changes in Aβ 42/40 ratios (2005) (172)
- Convergent genetic and expression data implicate immunity in Alzheimer's disease (2014) (172)
- Whole exome sequencing study identifies novel rare and common Alzheimer’s-Associated variants involved in immune response and transcriptional regulation (2018) (171)
- Death-associated protein kinase 1 phosphorylates Pin1 and inhibits its prolyl isomerase activity and cellular function. (2011) (166)
- Longitudinal cognitive and biomarker changes in dominantly inherited Alzheimer disease (2018) (163)
- Nicotine is a Selective Pharmacological Chaperone of Acetylcholine Receptor Number and Stoichiometry. Implications for Drug Discovery (2009) (161)
- Role of GABRA2 in trajectories of externalizing behavior across development and evidence of moderation by parental monitoring. (2009) (161)
- Extracellular Tau Levels Are Influenced by Variability in Tau That Is Associated with Tauopathies* (2012) (160)
- Apolipoprotein Eε4 modifies Alzheimer's disease onset in an E280A PS1 kindred (2003) (157)
- A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (2006) (156)
- Complete analysis of the presenilin 1 gene in early onset Alzheimer's disease (1996) (155)
- Association of the κ-opioid system with alcohol dependence (2006) (154)
- Association of TMEM106B gene polymorphism with age at onset in granulin mutation carriers and plasma granulin protein levels. (2011) (154)
- A Risk Allele for Nicotine Dependence in CHRNA5 Is a Protective Allele for Cocaine Dependence (2008) (150)
- Using dimensional models of externalizing psychopathology to aid in gene identification. (2008) (149)
- Transethnic genome-wide scan identifies novel Alzheimer's disease loci (2017) (149)
- Anxiety proneness linked to epistatic loci in genome scan of human personality traits. (1998) (148)
- Risk for Alzheimer's disease correlates with transcriptional activity of the APOE gene. (1998) (147)
- Impaired default network functional connectivity in autosomal dominant Alzheimer disease (2013) (146)
- Linkage and linkage disequilibrium of evoked EEG oscillations with CHRM2 receptor gene polymorphisms: implications for human brain dynamics and cognition. (2004) (144)
- Interplay of genetic risk factors (CHRNA5-CHRNA3-CHRNB4) and cessation treatments in smoking cessation success. (2012) (143)
- Association of late-onset Alzheimer's disease with genetic variation in multiple members of the GAPD gene family. (2004) (143)
- Hereditary dysphasic disinhibition dementia A frontotemporal dementia linked to 17 q21‐‐22 (1998) (142)
- Association of GABRG3 with alcohol dependence. (2004) (142)
- Amyloid‐beta plaque growth in cognitively normal adults: Longitudinal [11C]Pittsburgh compound B data (2011) (142)
- Genetic association studies between dementia of the Alzheimer's type and three receptors for apolipoprotein E in a Caucasian population (1997) (142)
- Current concepts in the pathogenesis of Alzheimer's disease. (1997) (141)
- Amyotrophic lateral sclerosis onset is influenced by the burden of rare variants in known amyotrophic lateral sclerosis genes (2015) (140)
- Effects of multiple genetic loci on age at onset in late-onset Alzheimer disease: a genome-wide association study. (2014) (140)
- Interpretation of risk loci from genome-wide association studies of Alzheimer's disease (2020) (139)
- Twenty years of Alzheimer’s disease‐causing mutations (2012) (139)
- Presenilin complexes with the C-terminal fragments of amyloid precursor protein at the sites of amyloid beta-protein generation. (2000) (138)
- Untangling Genetic Risk for Alzheimer’s Disease (2018) (138)
- Endophenotypes Successfully Lead to Gene Identification: Results from the Collaborative Study on the Genetics of Alcoholism (2006) (136)
- Amplitude of visual P3 event-related potential as a phenotypic marker for a predisposition to alcoholism: preliminary results from the COGA Project. Collaborative Study on the Genetics of Alcoholism. (1998) (135)
- TARDBP 3′-UTR variant in autopsy-confirmed frontotemporal lobar degeneration with TDP-43 proteinopathy (2009) (135)
- The utility of intraindividual variability in selective attention tasks as an early marker for Alzheimer's disease. (2009) (135)
- Interaction of Presenilins with the Filamin Family of Actin-Binding Proteins (1998) (134)
- Functional variant in a bitter-taste receptor (hTAS2R16) influences risk of alcohol dependence. (2006) (132)
- Presenilin function and γ‐secretase activity (2005) (130)
- Age and amyloid effects on human central nervous system amyloid‐beta kinetics (2015) (130)
- SNPs Associated with Cerebrospinal Fluid Phospho-Tau Levels Influence Rate of Decline in Alzheimer's Disease (2010) (128)
- Aberrant Splicing of tau Pre-mRNA Caused by Intronic Mutations Associated with the Inherited Dementia Frontotemporal Dementia with Parkinsonism Linked to Chromosome 17 (2000) (128)
- Alcohol dependence with comorbid drug dependence: genetic and phenotypic associations suggest a more severe form of the disorder with stronger genetic contribution to risk. (2007) (127)
- Innate immunity protein IFITM3 modulates γ-secretase in Alzheimer disease (2020) (127)
- Preclinical trials in autosomal dominant AD: implementation of the DIAN-TU trial. (2013) (127)
- Family-based association analyses of alcohol dependence phenotypes across DRD2 and neighboring gene ANKK1. (2007) (125)
- Novel presenilin 1 mutation (S170F) causing Alzheimer disease with Lewy bodies in the third decade of life. (2005) (124)
- A genomic scan for habitual smoking in families of alcoholics: Common and specific genetic factors in substance dependence (2004) (124)
- Progranulin mutations and amyotrophic lateral sclerosis or amyotrophic lateral sclerosis–frontotemporal dementia phenotypes (2006) (122)
- DAPK1 variants are associated with Alzheimer's disease and allele-specific expression. (2006) (121)
- VCP Mutations Causing Frontotemporal Lobar Degeneration Disrupt Localization of TDP-43 and Induce Cell Death* (2009) (120)
- Association of the kappa-opioid system with alcohol dependence. (2006) (120)
- TREM2 Variants in Alz hei mer's Disease (2012) (118)
- Initial genome screen for bipolar disorder in the NIMH genetics initiative pedigrees: chromosomes 2, 11, 13, 14, and X. (1997) (117)
- Genome-wide association study identifies four novel loci associated with Alzheimer’s endophenotypes and disease modifiers (2017) (117)
- TREM2 is associated with increased risk for Alzheimer’s disease in African Americans (2015) (116)
- Progranulin promotes neurite outgrowth and neuronal differentiation by regulating GSK-3β (2010) (115)
- Missense variant in TREML2 protects against Alzheimer's disease (2014) (115)
- A rare mutation in UNC5C predisposes to late-onset Alzheimer's disease and increases neuronal cell death (2014) (114)
- Genome-Wide Association Study of CSF Levels of 59 Alzheimer's Disease Candidate Proteins: Significant Associations with Proteins Involved in Amyloid Processing and Inflammation (2014) (114)
- A trial of gantenerumab or solanezumab in dominantly inherited Alzheimer’s disease (2021) (113)
- Association and expression analyses with single-nucleotide polymorphisms in TOMM40 in Alzheimer disease. (2011) (113)
- Contribution of APOE promoter polymorphisms to Alzheimer’s disease risk (2002) (112)
- A family-based analysis of the association of the dopamine D2 receptor (DRD2) with alcoholism. (1998) (111)
- Neuropsychological profile of a large kindred with familial Alzheimer's disease caused by the E280A single presenilin-1 mutation. (2000) (111)
- Elevated cortisol in older adults with generalized anxiety disorder is reduced by treatment: a placebo-controlled evaluation of escitalopram. (2011) (110)
- A genome‐wide association study of DSM‐IV cannabis dependence (2011) (109)
- Family-based study of the association of the dopamine D2 receptor gene (DRD2) with habitual smoking. (2000) (107)
- Functional variants in TAS2R38 and TAS2R16 influence alcohol consumption in high-risk families of African-American origin. (2007) (107)
- Linkage and linkage disequilibrium mapping of ERP and EEG phenotypes (2002) (106)
- Functional connectivity in autosomal dominant and late-onset Alzheimer disease. (2014) (106)
- Genetic studies on chromosome 12 in late-onset Alzheimer disease. (1998) (105)
- C9orf72 hexanucleotide repeat expansions in clinical Alzheimer disease. (2013) (105)
- A large-scale genome-wide association study meta-analysis of cannabis use disorder (2020) (104)
- A large-scale genome-wide association study meta-analysis of cannabis use disorder (2020) (104)
- Multiple cholinergic nicotinic receptor genes affect nicotine dependence risk in African and European Americans (2010) (103)
- Exome-Sequencing Confirms DNAJC5 Mutations as Cause of Adult Neuronal Ceroid-Lipofuscinosis (2011) (103)
- Chromosome 14–encoded Alzheimer's disease: Genetic and clinicopathological description (1994) (103)
- The genetics of substance dependence. (2012) (102)
- Pooled-DNA sequencing identifies novel causative variants in PSEN1, GRN and MAPT in a clinical early-onset and familial Alzheimer's disease Ibero-American cohort (2012) (102)
- A family-based analysis of whether the functional promoter alleles of the serotonin transporter gene HTT affect the risk for alcohol dependence. (1998) (102)
- Genomic Survey of Bipolar Illness in the NIMH Genetics Initiative Pedigrees: A Preliminary Report (1997) (101)
- The Alzheimer's Disease Sequencing Project: Study design and sample selection (2017) (101)
- Genotype patterns at PICALM, CR1, BIN1, CLU, and APOE genes are associated with episodic memory (2012) (101)
- Segregation of a missense mutation in the amyloid beta-protein precursor gene with familial Alzheimer's disease. (2006) (100)
- Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture (2021) (99)
- Association between GABRA1 and drinking behaviors in the collaborative study on the genetics of alcoholism sample. (2006) (97)
- Genetic and clinical features of progranulin-associated frontotemporal lobar degeneration. (2011) (97)
- Genetic linkage to chromosome 22q12 for a heavy-smoking quantitative trait in two independent samples. (2007) (97)
- Evidence of CNIH3 involvement in opioid dependence (2015) (96)
- Apolipoprotein Eepsilon4 modifies Alzheimer's disease onset in an E280A PS1 kindred. (2003) (96)
- Substantial linkage disequilibrium across the insulin-degrading enzyme locus but no association with late-onset Alzheimer's disease (2001) (95)
- The genetics of late-onset Alzheimer's disease (2001) (95)
- Variation in MAPT is associated with cerebrospinal fluid tau levels in the presence of amyloid-beta deposition (2008) (94)
- A genome-wide screen for genes influencing conduct disorder (2004) (94)
- The contribution of common CYP2A6 alleles to variation in nicotine metabolism among European–Americans (2011) (94)
- White matter diffusion alterations precede symptom onset in autosomal dominant Alzheimer’s disease (2018) (93)
- Two rare AKAP9 variants are associated with Alzheimer's disease in African Americans (2014) (92)
- Cell surface presenilin-1 participates in the gamma-secretase-like proteolysis of Notch. (1999) (92)
- Clinical comparison of Alzheimer's disease in pedigrees with the codon 717 Val→Ile mutation in the amyloid precursor protein gene (1993) (91)
- Genome-wide scan and conditional analysis in bipolar disorder: evidence for genomic interaction in the National Institute of Mental Health genetics initiative bipolar pedigrees (2003) (90)
- C‐terminal PAL motif of presenilin and presenilin homologues required for normal active site conformation (2006) (90)
- Suggestive linkage on chromosome 1 for a quantitative alcohol-related phenotype. (2002) (90)
- Initial genome scan of the NIMH genetics initiative bipolar pedigrees: chromosomes 4, 7, 9, 18, 19, 20, and 21q. (1997) (89)
- Polygenic risk score of sporadic late-onset Alzheimer's disease reveals a shared architecture with the familial and early-onset forms (2018) (89)
- Role of the β-amyloid precursor protein in Alzheimer's disease (1994) (89)
- A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks (2013) (89)
- Aph-2/Nicastrin An Essential Component of γ-Secretase and Regulator of Notch Signaling and Presenilin Localization (2002) (88)
- E280A PS‐1 mutation causes Alzheimer's disease but age of onset is not modified by ApoE alleles (1997) (88)
- Genetics of β-Amyloid Precursor Protein in Alzheimer's Disease. (2017) (87)
- Alzheimer’s Disease Risk Polymorphisms Regulate Gene Expression in the ZCWPW1 and the CELF1 Loci (2016) (87)
- Alzheimer’s disease risk variants show association with cerebrospinal fluid amyloid beta (2009) (87)
- Novel Alzheimer Disease Risk Loci and Pathways in African American Individuals Using the African Genome Resources Panel: A Meta-analysis. (2020) (86)
- Extreme cerebrospinal fluid amyloid β levels identify family with late‐onset Alzheimer's disease presenilin 1 mutation (2007) (86)
- Risk prediction of late-onset Alzheimer’s disease implies an oligogenic architecture (2020) (86)
- Discovery and functional prioritization of Parkinson’s disease candidate genes from large-scale whole exome sequencing (2017) (85)
- Pharmacotherapy effects on smoking cessation vary with nicotine metabolism gene (CYP2A6). (2014) (85)
- Molecular subtyping of Alzheimer’s disease using RNA sequencing data reveals novel mechanisms and targets (2021) (84)
- Association of childhood trauma exposure and GABRA2 polymorphisms with risk of posttraumatic stress disorder in adults (2009) (84)
- Integration of Alzheimer’s disease genetics and myeloid genomics identifies disease risk regulatory elements and genes (2021) (84)
- Stress-response pathways are altered in the hippocampus of chronic alcoholics. (2013) (81)
- A genome-wide association study of alcohol-dependence symptom counts in extended pedigrees identifies C15orf53 (2013) (80)
- SORL1 variants and risk of late-onset Alzheimer’s disease (2008) (80)
- Genome screen for loci influencing age at onset and rate of decline in late onset Alzheimer's disease (2005) (79)
- Linkage scan for quantitative traits identifies new regions of interest for substance dependence in the Collaborative Study on the Genetics of Alcoholism (COGA) sample. (2008) (78)
- Suggestive evidence of a locus on chromosome 10p using the NIMH genetics initiative bipolar affective disorder pedigrees. (2000) (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)
- Lack of C9ORF72 coding mutations supports a gain of function for repeat expansions in amyotrophic lateral sclerosis (2013) (77)
- Mapping the Road Forward in Alzheimer’s Disease (2011) (77)
- Smoking and Genetic Risk Variation Across Populations of European, Asian, and African American Ancestry—A Meta‐Analysis of Chromosome 15q25 (2012) (77)
- Apolipoprotein E levels in cerebrospinal fluid and the effects of ABCA1 polymorphisms (2007) (77)
- Mutation, sequence analysis, and association studies of α-synuclein in Parkinson's disease (1998) (76)
- Molecular characterization of novel progranulin (GRN) mutations in frontotemporal dementia (2008) (76)
- Linkage of an alcoholism-related severity phenotype to chromosome 16. (1998) (75)
- A regulatory variation in OPRK1, the gene encoding the κ-opioid receptor, is associated with alcohol dependence (2008) (75)
- Fine Mapping of Genetic Variants in BIN1, CLU, CR1 and PICALM for Association with Cerebrospinal Fluid Biomarkers for Alzheimer's Disease (2011) (75)
- Pathogenic cysteine mutations affect progranulin function and production of mature granulins (2010) (74)
- Association of single nucleotide polymorphisms in a glutamate receptor gene (GRM8) with theta power of event‐related oscillations and alcohol dependence (2009) (74)
- Systematic biological prioritization after a genome-wide association study: an application to nicotine dependence (2008) (74)
- PROTECTION AGAINST ALZHEIMER'S DISDEASE WITH APOE EPSILON 2 (1994) (73)
- Screening for the β-amyloid precursor protein mutation (APP717: Val → Ile) in extended pedigrees with early onset Alzheimer's disease (1991) (72)
- Meta-analysis of up to 622,409 individuals identifies 40 novel smoking behaviour associated genetic loci (2019) (72)
- Tau (MAPT) mutation Arg406Trp presenting clinically with Alzheimer disease does not share a common founder in Western Europe (2003) (71)
- Genome‐wide association study of theta band event‐related oscillations identifies serotonin receptor gene HTR7 influencing risk of alcohol dependence (2011) (71)
- Left frontal hub connectivity delays cognitive impairment in autosomal-dominant and sporadic Alzheimer’s disease (2018) (71)
- Association of CHRM2 with IQ: Converging Evidence for a Gene Influencing Intelligence (2007) (70)
- Polygenic Scores for Major Depressive Disorder and Risk of Alcohol Dependence (2017) (70)
- Peroxisome proliferator-activated receptors α and γ are linked with alcohol consumption in mice and withdrawal and dependence in humans. (2015) (70)
- Early behavioural changes in familial Alzheimer's disease in the Dominantly Inherited Alzheimer Network. (2015) (70)
- CHRNB3 is more strongly associated with Fagerström test for cigarette dependence-based nicotine dependence than cigarettes per day: phenotype definition changes genome-wide association studies results. (2012) (70)
- Single-nucleotide polymorphisms in corticotropin releasing hormone receptor 1 gene (CRHR1) are associated with quantitative trait of event-related potential and alcohol dependence. (2010) (69)
- MAOA-uVNTR and early physical discipline interact to influence delinquent behavior. (2009) (69)
- GENETIC STUDY: H2 haplotype at chromosome 17q21.31 protects against childhood sexual abuse‐associated risk for alcohol consumption and dependence (2010) (69)
- Rare missense variants in CHRNB4 are associated with reduced risk of nicotine dependence. (2012) (69)
- Interplay of Genetic Risk Factors and Parent Monitoring in Risk for Nicotine Dependence. (2009) (68)
- Genomic survey of bipolar illness in the NIMH genetics initiative pedigrees: a preliminary report. (1996) (68)
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- Novel haplotypes in 17q21 are associated with progressive supranuclear palsy (2004) (66)
- Genetic Heterogeneity in Alzheimer Disease and Implications for Treatment Strategies (2014) (66)
- α-2 macroglobulin gene and Alzheimer disease (1999) (64)
- A farnesyltransferase inhibitor activates lysosomes and reduces tau pathology in mice with tauopathy (2019) (64)
- Erratum: Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease (2009) (64)
- Mutations in APP have independent effects on Aβ and CTFγ generation (2004) (62)
- Identification and validation of novel CSF biomarkers for early stages of Alzheimer's disease (2007) (62)
- Multivariate analysis of 1.5 million people identifies genetic associations with traits related to self-regulation and addiction (2021) (62)
- Neuropathologic Heterogeneity in HDDD1: A Familial Frontotemporal Lobar Degeneration With Ubiquitin-positive Inclusions and Progranulin Mutation (2007) (62)
- The PSEN1, p.E318G Variant Increases the Risk of Alzheimer's Disease in APOE-ε4 Carriers (2013) (62)
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- Acetylated tau inhibits chaperone-mediated autophagy and promotes tau pathology propagation in mice (2021) (60)
- Rs5848 variant influences GRN mRNA levels in brain and peripheral mononuclear cells in patients with Alzheimer's disease. (2009) (59)
- Cholesterol accumulation in Niemann Pick type C (NPC) model cells causes a shift in APP localization to lipid rafts. (2010) (59)
- BDNF Val66Met moderates memory impairment, hippocampal function and tau in preclinical autosomal dominant Alzheimer's disease. (2016) (59)
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- Characterizing the Role of Brain Derived Neurotrophic Factor Genetic Variation in Alzheimer’s Disease Neurodegeneration (2013) (58)
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- Genetic variants influencing human aging from late-onset Alzheimer's disease (LOAD) genome-wide association studies (GWAS) (2012) (57)
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- Structure and alternative splicing of the presenilin-2 gene. (1996) (54)
- Haplotype-based association analysis of the MAPT locus in Late Onset Alzheimer's disease (2007) (54)
- CHRM2, Parental Monitoring, and Adolescent Externalizing Behavior (2011) (54)
- Causal Associations Between Modifiable Risk Factors and the Alzheimer's Phenome (2020) (53)
- Polymorphism in AACT gene may lower age of onset of Alzheimer's disease (1996) (53)
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- Genome-wide linkage analysis of 723 affected relative pairs with late-onset Alzheimer's disease. (2007) (53)
- SNP analysis to dissect human traits (2001) (53)
- Family‐based genome‐wide association study of frontal theta oscillations identifies potassium channel gene KCNJ6 (2012) (52)
- Conserved “PAL” sequence in presenilins is essential for γ-secretase activity, but not required for formation or stabilization of γ-secretase complexes (2004) (52)
- Polygenic risk scores in familial Alzheimer disease (2017) (52)
- Selective reduction of soluble Tau proteins in sporadic and familial frontotemporal dementias: an international follow-up study (2003) (52)
- Paired Immunoglobulin-like Type 2 Receptor Alpha G78R variant alters ligand binding and confers protection to Alzheimer's disease (2018) (51)
- Suggestive synergy between genetic variants in TF and HFE as risk factors for Alzheimer's disease (2009) (51)
- Sex differences in the genetic predictors of Alzheimer's pathology. (2019) (51)
- Cholesterol and matrisome pathways dysregulated in astrocytes and microglia (2022) (50)
- No association found between Alzheimer's disease and a mitochondrial tRNA glutamine gene variant (1995) (49)
- Validating predicted biological effects of Alzheimer's disease associated SNPs using CSF biomarker levels. (2010) (49)
- Association of substance dependence phenotypes in the COGA sample (2015) (49)
- Increased familial risk and genomewide significant linkage for Alzheimer's disease with psychosis (2007) (48)
- Dissection of the phenotypic and genotypic associations with nicotinic dependence. (2011) (48)
- Age-specific incidence rates for dementia and Alzheimer disease in NIA-LOAD/NCRAD and EFIGA families: National Institute on Aging Genetics Initiative for Late-Onset Alzheimer Disease/National Cell Repository for Alzheimer Disease (NIA-LOAD/NCRAD) and Estudio Familiar de Influencia Genetica en Alzhei (2014) (48)
- Gamma-aminobutyric acid receptor genes and nicotine dependence: evidence for association from a case-control study. (2008) (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)
- A Comprehensive Resource for Induced Pluripotent Stem Cells from Patients with Primary Tauopathies (2019) (47)
- The Role of Cardiovascular Risk Factors and Stroke in Familial Alzheimer Disease. (2016) (46)
- A 3p26-3p25 genetic linkage finding for DSM-IV major depression in heavy smoking families. (2011) (46)
- The BDNFVal66Met SNP modulates the association between beta-amyloid and hippocampal disconnection in Alzheimer’s disease (2019) (46)
- In Vivo Human Apolipoprotein E Isoform Fractional Turnover Rates in the CNS (2012) (46)
- ELAVL4, splicing, and glutamatergic dysfunction precede neuron loss in MAPT mutation cerebral organoids (2021) (46)
- Exome Chip Meta-analysis Fine Maps Causal Variants and Elucidates the Genetic Architecture of Rare Coding Variants in Smoking and Alcohol Use (2019) (45)
- GABRR1 and GABRR2, encoding the GABA‐A receptor subunits ρ1 and ρ2, are associated with alcohol dependence (2010) (45)
- Parkinson disease is not associated with C9ORF72 repeat expansions (2013) (45)
- Genetic influences on alcohol use across stages of development: GABRA2 and longitudinal trajectories of drunkenness from adolescence to young adulthood (2014) (45)
- Genetic variability at the amyloid-β precursor protein locus may contribute to the risk of late-onset Alzheimer's disease (1999) (45)
- A potential endophenotype for Alzheimer's disease: cerebrospinal fluid clusterin (2016) (45)
- Alternative processing of γ‐secretase substrates in common forms of mild cognitive impairment and alzheimer's disease: Evidence for γ‐secretase dysfunction (2011) (44)
- Age-at-Onset in Late Onset Alzheimer Disease is Modified by Multiple Genetic Loci (2014) (44)
- A Systematic Single Nucleotide Polymorphism Screen to Fine-Map Alcohol Dependence Genes on Chromosome 7 Identifies Association With a Novel Susceptibility Gene ACN9 (2008) (43)
- Beyond cigarettes per day. A genome-wide association study of the biomarker carbon monoxide. (2014) (43)
- Association studies using novel polymorphisms in BACE1 and BACE2 (2001) (43)
- Evidence that common variation in NEDD9 is associated with susceptibility to late-onset Alzheimer's and Parkinson's disease. (2008) (43)
- Monogenetic determinants of Alzheimer's disease: APP mutations (1998) (43)
- Involvement of vimentin in the reverse transformation reaction. (1989) (42)
- Evidence for genes on chromosome 2 contributing to alcohol dependence with conduct disorder and suicide attempts (2010) (42)
- No association between the alpha-2 macroglobulin I1000V polymorphism and Alzheimer's disease (1999) (42)
- A Tale of Two Genes: Microglial Apoe and Trem2. (2017) (42)
- Localization of a human heat-shock HSP 70 gene sequence to chromosome 6 and detection of two other loci by somatic-cell hybrid and restriction fragment length polymorphism analysis (1987) (41)
- Genetics of Alcoholism (1998) (41)
- Segregation of functional networks is associated with cognitive resilience in Alzheimer's disease. (2021) (41)
- ApoE Cascade Hypothesis in the pathogenesis of Alzheimer’s disease and related dementias (2022) (41)
- Assessment of the Genetic Architecture of Alzheimer's Disease Risk in Rate of Memory Decline. (2018) (41)
- SUCLG2 identified as both a determinator of CSF Aβ1-42 levels and an attenuator of cognitive decline in Alzheimer's disease. (2014) (41)
- Sex-specific genetic predictors of Alzheimer’s disease biomarkers (2018) (40)
- Lack of an association of BDNF Val66Met polymorphism and plasma BDNF with hippocampal volume and memory (2015) (40)
- Rare missense variants in CHRNB3 and CHRNA3 are associated with risk of alcohol and cocaine dependence. (2014) (40)
- GENETICS OF ALZHEIMERS-DISEASE (1990) (40)
- Description of the genetic analysis workshop 11 collaborative study on the genetics of alcoholism (1999) (40)
- The BDNF val66met polymorphism is not associated with late onset Alzheimer's disease in three case–control samples (2005) (40)
- DSM-5 cannabis use disorder: a phenotypic and genomic perspective. (2014) (40)
- Linkage Analyses of IQ in the Collaborative Study on the Genetics of Alcoholism (COGA) Sample (2006) (40)
- Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis (2020) (40)
- Rarity of the Alzheimer disease-protective APP A673T variant in the United States. (2015) (39)
- Calcium phosphatase calcineurin influences tau metabolism (2013) (39)
- Use of a predictive model derived from in vivo endophenotype measurements to demonstrate associations with a complex locus, CYP2A6. (2012) (39)
- Genetic association of the APP binding protein 2 gene (APBB2) with late onset Alzheimer disease (2005) (39)
- THE MOLECULAR-GENETICS OF ALZHEIMERS-DISEASE (1989) (39)
- Genome‐wide association studies of alcohol dependence, DSM‐IV criterion count and individual criteria (2019) (38)
- Mutations in APP have independent effects on Abeta and CTFgamma generation. (2004) (38)
- ABCA7 p.G215S as potential protective factor for Alzheimer's disease (2016) (38)
- Association studies between risk for late‐onset Alzheimer's disease and variants in insulin degrading enzyme (2005) (38)
- Measuring alcohol consumption for genomic meta-analyses of alcohol intake: opportunities and challenges. (2012) (37)
- Tau polymorphisms are not associated with Alzheimer's disease (2000) (37)
- Rare, low frequency and common coding variants in CHRNA5 and their contribution to nicotine dependence in European and African Americans (2016) (37)
- Linkage mapping of beta 2 EEG waves via non‐parametric regression (2003) (37)
- Principal component analysis of PiB distribution in Parkinson and Alzheimer diseases (2013) (37)
- ALS onset is influenced by the burden of rare variants in known ALS genes (2015) (37)
- Posttranslational Modification and Plasma Membrane Localization of the Drosophila melanogaster Presenilin (2000) (37)
- Ubiquilin 1 polymorphisms are not associated with late‐onset Alzheimer's disease (2006) (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)
- Presenilin endoproteolysis is an intramolecular cleavage (2005) (36)
- Late onset Alzheimer’s disease genetics implicates microglial pathways in disease risk (2017) (36)
- Variants in two adjacent genes, EGLN2 and CYP2A6, influence smoking behavior related to disease risk via different mechanisms. (2014) (36)
- Relation of Serotonin Transporter Genetic Variation to Efficacy of Escitalopram for Generalized Anxiety Disorder in Older Adults (2010) (35)
- Biochemical, neuropathological, and neuroimaging characteristics of early-onset Alzheimer's disease due to a novel PSEN1 mutation (2011) (35)
- Predicting sporadic Alzheimer’s disease progression via inherited Alzheimer’s disease-informed machine-learning (2020) (35)
- Physical mapping around the Alzheimer disease locus on the proximal long arm of chromosome 21. (1990) (34)
- Cholesterol and matrisome pathways dysregulated in human APOE ε4 glia (2019) (34)
- Genomewide association study identifies a novel locus for cannabis dependence (2017) (34)
- Multiple distinct CHRNB3-CHRNA6 variants are genetic risk factors for nicotine dependence in African Americans and European Americans. (2014) (34)
- No association of the GABAA receptor genes on chromosome 5 with alcoholism in the collaborative study on the genetics of alcoholism sample (2005) (34)
- Sequence variation in the CHAT locus shows no association with late-onset Alzheimer's disease (2003) (34)
- Association of Long Runs of Homozygosity With Alzheimer Disease Among African American Individuals. (2015) (34)
- In search of causal variants: refining disease association signals using cross-population contrasts (2008) (33)
- Global and local ancestry in African-Americans: Implications for Alzheimer's disease risk (2016) (33)
- Mutation, sequence analysis, and association studies of alpha-synuclein in Parkinson's disease. (1998) (33)
- Alzheimer's-associated PU.1 expression levels regulate microglial inflammatory response (2020) (33)
- Variants in PPP3R1 and MAPT are associated with more rapid functional decline in Alzheimer's disease: The Cache County Dementia Progression Study (2014) (33)
- A Common Variant of IL-6R is Associated with Elevated IL-6 Pathway Activity in Alzheimer's Disease Brains. (2017) (33)
- An ADH1B variant and peer drinking in progression to adolescent drinking milestones: evidence of a gene-by-environment interaction. (2014) (32)
- Mendelian adult-onset leukodystrophy genes in Alzheimer's disease: critical influence of CSF1R and NOTCH3 (2018) (31)
- Association of TREM2 variants with Alzheimer's disease in African-Americans: For the Alzheimer's Disease Genetics Consortium (ADGC) (2013) (31)
- TREM 2 Variant p . R 47 H as a Risk Factor for Sporadic Amyotrophic Lateral Sclerosis (2014) (31)
- Whole genome sequencing of Caribbean Hispanic families with late‐onset Alzheimer's disease (2018) (31)
- Defining Alcohol-Related Phenotypes in Humans (2002) (31)
- Molecular genetics of Alzheimer’s disease (1997) (31)
- Genetic and physical characterization of the early-onset Alzheimer's disease AD3 locus on chromosome 14q24.3. (1995) (31)
- Presenilin-1 Protects against Neuronal Apoptosis Caused by Its Interacting Protein PAG (2002) (30)
- Association studies between common variants in prolyl isomerase Pin1 and the risk for late-onset Alzheimer's disease (2007) (30)
- Niemann-Pick type C cells show cholesterol dependent decrease of APP expression at the cell surface and its increased processing through the beta-secretase pathway. (2010) (30)
- Cortical Binding of Pittsburgh Compound B, an Endophenotype for Genetic Studies of Alzheimer's Disease (2010) (30)
- Effects upon in-vivo nicotine metabolism reveal functional variation in FMO3 associated with cigarette consumption (2013) (30)
- Clinical, pathophysiological and genetic features of motor symptoms in autosomal dominant Alzheimer's disease. (2019) (30)
- Genome-wide survival analysis of age at onset of alcohol dependence in extended high-risk COGA families. (2014) (29)
- Variants Located Upstream of CHRNB4 on Chromosome 15q25.1 Are Associated with Age at Onset of Daily Smoking and Habitual Smoking (2012) (29)
- Differentiating cognitive impairment due to corticobasal degeneration and Alzheimer disease (2017) (29)
- Soluble TREM2 in CSF and its association with other biomarkers and cognition in autosomal-dominant Alzheimer's disease: a longitudinal observational study (2022) (29)
- Molecular genetics of Alzheimer's disease. (1993) (28)
- Analysis of neurodegenerative Mendelian genes in clinically diagnosed Alzheimer Disease (2017) (28)
- Genetic studies of plasma analytes identify novel potential biomarkers for several complex traits (2016) (28)
- Neurological Manifestations of Autosomal Dominant Alzheimer’s Disease from the DIAN cohort and a meta-analysis (2016) (27)
- Presymptomatic atrophy in autosomal dominant Alzheimer's disease: A serial magnetic resonance imaging study (2017) (27)
- Influence of Coding Variability in APP-Aβ Metabolism Genes in Sporadic Alzheimer’s Disease (2016) (27)
- Reduced variability of neural progenitor cells and improved purity of neuronal cultures using magnetic activated cell sorting (2019) (27)
- Presenilins Upregulate Functional K+Channel Currents in Mammalian Cells (1998) (27)
- A genome-wide association study of alcohol (2010) (26)
- Cerebral amyloidosis associated with cognitive decline in autosomal dominant Alzheimer disease (2015) (26)
- Conserved "PAL" sequence in presenilins is essential for gamma-secretase activity, but not required for formation or stabilization of gamma-secretase complexes. (2004) (26)
- PRESENILE DEMENTIA ASSOCIATED WITH MOSAIC TRISOMY 21 IN A PATIENT WITH A DOWN SYNDROME CHILD (1989) (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)
- Ventral striatal regulation of CREM mediates impulsive action and drug addiction vulnerability (2017) (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)
- A rare mutation in UNC 5 C predisposes to late-onset Alzheimer ’ s disease and increases neuronal cell death (2014) (26)
- FUS Immunogold Labeling TEM Analysis of the Neuronal Cytoplasmic Inclusions of Neuronal Intermediate Filament Inclusion Disease: A Frontotemporal Lobar Degeneration with FUS Proteinopathy (2011) (26)
- Evidence for Allelic Heterogeneity in Familial Early-Onset Alzheimer's Disease (1991) (25)
- Sequence-ready contig for the 1.4-cM ductal carcinoma in situ loss of heterozygosity region on chromosome 8p22-p23. (1999) (25)
- Variation in the urokinase‐plasminogen activator gene does not explain the chromosome 10 linkage signal for late onset AD (2004) (25)
- Pupil response biomarkers distinguish amyloid precursor protein mutation carriers from non-carriers. (2013) (25)
- Increased nicotine response in iPSC-derived human neurons carrying the CHRNA5 N398 allele (2016) (25)
- Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection (2018) (25)
- Genetic Variation in Genes Underlying Diverse Dementias May Explain a Small Proportion of Cases in the Alzheimer’s Disease Sequencing Project (2018) (25)
- An endophenotype approach to the genetics of alcohol dependence: a genome wide association study of fast beta EEG in families of African ancestry (2017) (25)
- Accelerated functional brain aging in pre-clinical familial Alzheimer’s disease (2021) (25)
- Discovery and validation of autosomal dominant Alzheimer’s disease mutations (2018) (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)
- Two domains within the first putative transmembrane domain of presenilin 1 differentially influence presenilinase and γ‐secretase activity (2005) (24)
- Linkage analyses in Caribbean Hispanic families identify novel loci associated with familial late-onset Alzheimer's disease (2015) (24)
- Gene-based analysis in HRC imputed genome wide association data identifies three novel genes for Alzheimer’s disease (2018) (24)
- MicroRNA-195 rescues ApoE4-induced cognitive deficits and lysosomal defects in Alzheimer’s disease pathogenesis (2020) (24)
- Common polymorphisms in FMO1 are associated with nicotine dependence (2011) (24)
- A yeast artificial chromosome contig from human chromosome 14q24 spanning the Alzheimer's disease locus AD3. (1995) (24)
- Genetic and Neurophysiological Correlates of the Age of Onset of Alcohol Use Disorders in Adolescents and Young Adults (2013) (23)
- Genome-wide linkage analyses of non-Hispanic white families identify novel loci for familial late-onset Alzheimer's disease (2016) (23)
- TREM 2 is associated with increased risk for Alzheimer ' s disease in African Americans (23)
- A multiancestry study identifies novel genetic associations with CHRNA5 methylation in human brain and risk of nicotine dependence. (2015) (23)
- Family-based association analysis of alcohol dependence criteria and severity. (2014) (23)
- Apolipoprotein E genotype does not affect the age of onset of dementia in families with defined tau mutations (1999) (23)
- Genetic linkage findings for DSM‐IV nicotine withdrawal in two populations (2009) (22)
- Cognitive Decline in Patients with Familial Alzheimer's Disease Associated with E280a Presenilin-1 Mutation: A Longitudinal Study (2000) (22)
- Parenchymal border macrophages regulate the flow dynamics of the cerebrospinal fluid (2022) (22)
- CYP2B6 Non-Coding Variation Associated with Smoking Cessation Is Also Associated with Differences in Allelic Expression, Splicing, and Nicotine Metabolism Independent of Common Amino-Acid Changes (2013) (22)
- Common biological networks underlie genetic risk for alcoholism in African‐ and European‐American populations (2013) (22)
- Integrative metabolomics‐genomics approach reveals key metabolic pathways and regulators of Alzheimer's disease (2021) (21)
- Failure to replicate a protective effect of allele 2 of NACP/α‐synuclein polymorphism in Alzheimer's disease: An association study (1998) (21)
- Association between alcohol consumption and Alzheimer's disease: A Mendelian randomization study (2019) (21)
- Allele-specific expression and high-throughput reporter assay reveal functional genetic variants associated with alcohol use disorders (2019) (21)
- A sex-adjusted and age-adjusted genome screen for nested alcohol dependence diagnoses (2005) (21)
- The Aggregate Effect of Dopamine Genes on Dependence Symptoms Among Cocaine Users: Cross-Validation of a Candidate System Scoring Approach (2012) (21)
- Further evidence for an association between the gamma-aminobutyric acid receptor A, subunit 4 genes on chromosome 4 and Fagerström Test for Nicotine Dependence. (2009) (21)
- Effect of BDNFVal66Met on disease markers in dominantly inherited Alzheimer's disease (2018) (21)
- A rare missense variant of CASP7 is associated with familial late-onset Alzheimer's disease (2018) (20)
- Mitonuclear interactions influence Alzheimer’s disease risk (2019) (20)
- Copy number variations in 6q14.1 and 5q13.2 are associated with alcohol dependence. (2012) (20)
- The contribution of common UGT2B10 and CYP2A6 alleles to variation in nicotine glucuronidation among European Americans (2013) (20)
- Shared Genetic Risk between Eating Disorder- and Substance-Use-Related Phenotypes: Evidence from Genome-Wide Association Studies (2019) (20)
- The Rare-Variant Generalized Disequilibrium Test for Association Analysis of Nuclear and Extended Pedigrees with Application to Alzheimer Disease WGS Data. (2017) (20)
- Alpha-2 macroglobulin gene and Alzheimer disease. (1999) (19)
- A polymorphism in the presenilin 1 gene does not modify risk for Alzheimer's disease in a cohort with sporadic early onset (1997) (19)
- Promoter DNA hypermethylation – Implications for Alzheimer’s disease (2019) (19)
- Current directions in tau research: Highlights from Tau 2020 (2021) (19)
- Integration of Alzheimer’s disease genetics and myeloid cell genomics identifies novel causal variants, regulatory elements, genes and pathways (2019) (19)
- Human fibroblast and stem cell resource from the Dominantly Inherited Alzheimer Network (2018) (18)
- Role of the beta-amyloid precursor protein in Alzheimer's disease. (1994) (18)
- Genome-wide polygenic scores for age at onset of alcohol dependence and association with alcohol-related measures (2016) (18)
- SORL1 variants across Alzheimer’s disease European American cohorts (2016) (18)
- Serum neurofilament light chain levels are associated with white matter integrity in autosomal dominant Alzheimer's disease (2020) (18)
- Copy Number Variation Accuracy in Genome-Wide Association Studies (2011) (18)
- Systematic validation of variants of unknown significance in APP, PSEN1 and PSEN2 (2020) (18)
- A compensatory effect upon splicing results in normal function of the CYP2A6*14 allele (2013) (18)
- Cis-Regulatory Variants Affect CHRNA5 mRNA Expression in Populations of African and European Ancestry (2013) (18)
- Multi-omics integration analysis identifies novel genes for alcoholism with potential overlap with neurodegenerative diseases (2021) (18)
- Variant-dependent heterogeneity in amyloid β burden in autosomal dominant Alzheimer's disease: cross-sectional and longitudinal analyses of an observational study (2022) (17)
- Rare genetic variation implicated in non-Hispanic white families with Alzheimer disease (2018) (17)
- Comparison of CSF biomarkers in Down syndrome and autosomal dominant Alzheimer's disease: a cross-sectional study (2021) (17)
- Erratum to “Preclinical trials in autosomal dominant AD: Implementation of the DIAN-TU trial” [Rev. Neurol. 169 (10) (2013) 737–743] (2013) (16)
- Genome screen for platelet monoamine oxidase (MAO) activity. (1999) (16)
- Alzheimer's disease untangled (1992) (16)
- Characterization of N-terminal processing of group VIA phospholipase A2 and of potential cleavage sites of amyloid precursor protein constructs by automated identification of signature peptides in LC/MS/MS analyses of proteolytic digests (2004) (16)
- Association studies testing for risk for late‐onset Alzheimer's disease with common variants in the β‐amyloid precursor protein (APP) (2007) (15)
- CRISPRi screens in human iPSC-derived astrocytes elucidate regulators of distinct inflammatory reactive states (2022) (15)
- Transancestral GWAS of alcohol dependence reveals common genetic underpinnings with psychiatric disorders (2018) (15)
- Integration of Alzheimer’s disease genetics and myeloid genomics reveals novel disease risk mechanisms (2019) (15)
- Nicotine Dependence is Associated with Functional Variation in FMO3, an Enzyme that Metabolizes Nicotine in the Brain (2016) (15)
- Risk factors for neurocognitive dysfunction after cardiac surgery in postmenopausal women. (2008) (15)
- Missense variant in TREML 2 protects against Alzheimer ’ s Disease (2013) (15)
- Correction: Rare Variants in APP, PSEN1 and PSEN2 Increase Risk for AD in Late-Onset Alzheimer's Disease Families (2012) (15)
- A multi-incident, Old-Order Amish family with PD (2002) (15)
- [Accepted Manuscript] Presymptomatic atrophy in autosomal dominant Alzheimer's disease: A serial MRI study. (2017) (15)
- Utility of perfusion PET measures to assess neuronal injury in Alzheimer's disease (2018) (15)
- A Rare Variant Nonparametric Linkage Method for Nuclear and Extended Pedigrees with Application to Late-Onset Alzheimer Disease via WGS Data. (2019) (14)
- A novel PSEN1 mutation (I238M) associated with early-onset Alzheimer's disease in an African-American woman. (2014) (13)
- Alteration in brain presenilin 1 mRNA expression in early onset familial Alzheimer's disease. (1996) (13)
- The innate immunity protein IFITM3 modulates γ-secretase in Alzheimer’s disease (2020) (13)
- Chitinase-3-like 1 protein (CHI3L1) locus influences cerebrospinal fluid levels of YKL-40 (2016) (13)
- Genome-wide association study for variants that modulate relationships between cerebrospinal fluid amyloid-beta 42, tau, and p-tau levels (2018) (13)
- Variants near CHRNB3-CHRNA6 are associated with DSM-5 cocaine use disorder: evidence for pleiotropy (2014) (13)
- Novel presenilin 1 variant (P117A) causing Alzheimer's disease in the fourth decade of life (2008) (13)
- A Genetic Variant (COMT) Coding Dopaminergic Activity Predicts Personality Traits in Healthy Elderly. (2015) (13)
- Pathway Analysis of Smoking Quantity in Multiple GWAS Identifies Cholinergic and Sensory Pathways (2012) (13)
- Paired Immunoglobulin-like Type 2 Receptor Alpha G78R variant alters ligand binding and confers protection to Alzheimer’s disease (2018) (12)
- Molecular genetics of Alzheimer's disease. (1993) (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)
- Genome‐wide association studies of the self‐rating of effects of ethanol (SRE) (2019) (12)
- Human iPSC-derived astrocytes transplanted into the mouse brain undergo morphological changes in response to amyloid-β plaques (2021) (12)
- CRISPRi screens in human astrocytes elucidate regulators of distinct inflammatory reactive states (2021) (12)
- Progranulin mutations and ALS or ALS-FTD phenotypes (2007) (12)
- The NIK protein kinase and C17orf1 genes: chromosomal mapping, gene structures and mutational screening in frontotemporal dementia and parkinsonism linked to chromosome 17 (1998) (12)
- Functional Characterization Improves Associations between Rare Non-Synonymous Variants in CHRNB4 and Smoking Behavior (2014) (12)
- Variants Weakly Correlated with CHRNA5 D398N Polymorphism Should be Considered in Transcriptional Deregulation at the 15q25 Locus Associated with Lung Cancer Risk (2009) (11)
- Evaluation of Gene-Based Family-Based Methods to Detect Novel Genes Associated With Familial Late Onset Alzheimer Disease (2018) (11)
- Conserved residues in juxtamembrane region of the extracellular domain of nicastrin are essential for γ‐secretase complex formation (2006) (11)
- Genetic variants associated with susceptibility to psychosis in late-onset Alzheimer’s disease families (2015) (11)
- Genetic Comparison of Symptomatic and Asymptomatic Persons With Alzheimer Disease Neuropathology (2017) (11)
- A genome-wide association study of interhemispheric theta EEG coherence: implications for neural connectivity and alcohol use behavior (2019) (11)
- Aberrant Splicing of tau Pre-mRNA Caused by Intronic Mutations Associated with the Inherited Dementia Frontotemporal Dementia with Parkinsonism Linked to Chromosome 17 (2000) (11)
- The Genetic Relationship Between Alcohol Consumption and Aspects of Problem Drinking in an Ascertained Sample. (2019) (11)
- Greater effect of polygenic risk score for Alzheimer's disease among younger cases who are apolipoprotein E-ε4 carriers (2020) (11)
- Association of Single Nucleotide Polymorphisms in a Glutamate Receptor Gene ( GRM 8 ) With Theta Power of Event-Related Oscillations and Alcohol Dependence (2008) (11)
- The genetics of Alzheimer's disease and mutations in the amyloid β-protein precursor gene (1995) (10)
- Genome-wide association study and functional validation implicates JADE1 in tauopathy (2021) (10)
- Notch3 mutations and the potential for diagnostic testing for CADASIL (1997) (10)
- Modelling the occurrence and pathology of Alzheimer's disease (1989) (10)
- Comparing amyloid-β plaque burden with antemortem PiB PET in autosomal dominant and late-onset Alzheimer disease (2021) (10)
- Segregation of a missense mutation in the amyloid β-protein precursor gene with familial Alzheimer’s disease (2006) (10)
- CYP2A6 metabolism in the development of smoking behaviors in young adults (2018) (10)
- Does APOE explain the linkage of Alzheimer's disease to chromosome 19q13? (2008) (10)
- Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease (vol 41, pg 1088, 2009) (2013) (10)
- Genetic characterization of a familial non-specific dementia originating in Jutland, Denmark (1993) (10)
- Exclusion mapping in familial non-specific dementia. (1993) (10)
- Association of Polygenic Liability for Alcohol Dependence and EEG Connectivity in Adolescence and Young Adulthood (2019) (10)
- Phenotypic Similarities Between Late-Onset Autosomal Dominant and Sporadic Alzheimer Disease: A Single-Family Case-Control Study. (2016) (10)
- SUCLG 2 identified as both a determinator of CSF A b 1 – 42 levels and an attenuator of cognitive decline in Alzheimer ’ s disease (2014) (10)
- APOE4 confers transcriptomic and functional alterations to primary mouse microglia (2022) (9)
- Biomarkers will revolutionize the way we diagnose and treat Alzheimer's disease. (2010) (9)
- A common haplotype lowers SPI1 (PU.1) expression in myeloid cells and delays age at onset for Alzheimer’s disease (2017) (9)
- Apolipoprotein E ε 4 Modifies Alzheimer ’ s Disease Onset in an E 280 A PS 1 Kindred (2003) (9)
- Erratum: The Rare-Variant Generalized Disequilibrium Test for Association Analysis of Nuclear and Extended Pedigrees with Application to Alzheimer Disease WGS Data. (2017) (9)
- Remote cognitive assessment approaches in the Dominantly Inherited Alzheimer Network (DIAN) (2020) (9)
- The role of presenilin 1 in the genetics of Alzheimer's disease. (1996) (9)
- Genome‐wide association study identifies loci associated with liability to alcohol and drug dependence that is associated with variability in reward‐related ventral striatum activity in African‐ and European‐Americans (2019) (9)
- Causal associations between potentially modifiable risk factors and the Alzheimer’s phenome: A Mendelian randomization study (2019) (9)
- Personalized genetic assessment of age associated Alzheimer’s disease risk (2016) (9)
- Mutations in APP and their role in beta-amyloid deposition. (1992) (9)
- PRESENILIN1 G217R MUTATION LINKED TO ALZHEIMER DISEASE WITH COTTON WOOL PLAQUES (2009) (9)
- Dysregulation of mitochondrial and proteolysosomal genes in Parkinson’s disease myeloid cells (2021) (8)
- Construction of a detailed physical and transcript map of the FTDP-17 candidate region on chromosome 17q21. (1999) (8)
- Uncovering hidden variance: pair-wise SNP analysis accounts for additional variance in nicotine dependence (2011) (8)
- Relationships between big‐five personality factors and Alzheimer's disease pathology in autosomal dominant Alzheimer's disease (2020) (8)
- Protective Variants in Alzheimer’s Disease (2019) (8)
- Pathobiology of Alzheimer's disease (1995) (8)
- Genomewide scan of affected relative pairs using the NIMH Genetics Initiative Bipolar affective Disorder pedigrees (1998) (8)
- Effect of APOE and a polygenic risk score on incident dementia and cognitive decline in a healthy older population (2020) (8)
- A genome wide association study of fast beta EEG in families of European ancestry. (2017) (8)
- Genetic screening in two Iranian families with early-onset Alzheimer's disease identified a novel PSEN1 mutation (2018) (8)
- Empirical design of a variant quality control pipeline for whole genome sequencing data using replicate discordance (2019) (8)
- Novel progranulin variants do not disrupt progranulin secretion and cleavage (2013) (8)
- PHENOTYPIC SIMILARITIES BETWEEN LATE-ONSET AUTOSOMAL DOMINANT AND SPORADIC ALZHEIMER DISEASE: A SINGLE-FAMILY CASE-CONTROL STUDY (2016) (8)
- Microglial efferocytosis: Diving into the Alzheimer’s disease gene pool (2022) (8)
- Using genome-Wwide complex trait analysis to quantify 'missing heritability' in Parkinson's disease (2012) (8)
- Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into the complex genetic architecture (2020) (7)
- Awareness of genetic risk in the Dominantly Inherited Alzheimer Network (DIAN) (2020) (7)
- as potential protective factor for Alzheimer’s disease (2016) (7)
- Genetics of Alcohol Use Disorder: A Role for Induced Pluripotent Stem Cells? (2018) (7)
- 17q21.31 sub-haplotypes underlying H1-associated risk for Parkinson’s disease are associated with LRRC37A/2 expression in astrocytes (2019) (7)
- Genes for a 'Wellderly' Life. (2016) (7)
- Novel presenilin 1 and 2 double knock-out cell line for in vitro validation of PSEN1 and PSEN2 mutations (2020) (7)
- A globally diverse reference alignment and panel for imputation of mitochondrial DNA variants (2019) (7)
- Linkage for platelet monoamine oxidase (MAO) activity: results from a replication sample. (2002) (7)
- A landscape of the genetic and cellular heterogeneity in Alzheimer disease (2021) (7)
- APOE ε4 genotype predicts memory for everyday activities (2015) (7)
- Precision genome-editing with CRISPR/Cas9 in human induced pluripotent stem cells (2017) (6)
- THE DOMINANTLY INHERITED ALZHEIMER NETWORK TRIALS UNIT (2016) (6)
- A physical map of the human APP gene in YACs (1993) (6)
- The association of polygenic risk for schizophrenia, bipolar disorder, and depression with neural connectivity in adolescents and young adults: examining developmental and sex differences (2021) (6)
- Linkage, whole genome sequence, and biological data implicate variants in RAB10 in Alzheimer’s disease resilience (2017) (6)
- Association of BDNF Val66Met With Tau Hyperphosphorylation and Cognition in Dominantly Inherited Alzheimer Disease. (2022) (6)
- 20 cM genome scan of the NIMH Genetics Initiative Bipolar Pedigrees: chromosomes 1, 6, 8, 10 and 12 (1996) (6)
- Autosomal dominant and sporadic late onset Alzheimer disease share a common in vivo pathophysiology. (2022) (6)
- Molecular genetics of hereditary dysphasic dementia (1994) (6)
- Positive Selection on Loci Associated with Drug and Alcohol Dependence (2015) (5)
- COMPARING SMARTPHONE-ADMINISTERED COGNITIVE ASSESSMENTS WITH CONVENTIONAL TESTS AND BIOMARKERS IN SPORADIC AND DOMINANTLY INHERITED ALZHEIMER DISEASE (2018) (5)
- Presymptomatic Alzheimer's disease in the Dominantly Inherited Alzheimer's Network (DIAN) (2012) (5)
- Expression and developmental regulation of two unique mRNAs specific to brain membrane-bound polyribosomes. (1987) (5)
- Parsing genetically influenced risk pathways: genetic loci impact problematic alcohol use via externalizing and specific risk (2021) (5)
- A novel non‐parametric regression reveals linkage on chromosome 4 for the number of externalizing symptoms in sib‐pairs (2008) (5)
- Polygenic score modifies risk for Alzheimer's disease in APOE ε4 homozygotes at phenotypic extremes (2021) (5)
- Circular RNA detection identifies circPSEN1 alterations in brain specific to autosomal dominant Alzheimer's disease (2022) (5)
- D21S194, a jump clone from D21S16. (1990) (5)
- Infection and inflammation: New perspectives on Alzheimer's disease (2022) (5)
- Niemann Pick type C cells show cholesterol dependent decrease of APP expression at the cell surface its increased processing through the -secretase pathway (2010) (5)
- A domain at the C‐terminus of PS1 is required for presenilinase and γ‐secretase activities (2005) (5)
- Common and specific factors in the familial transmission of substance dependence (2000) (5)
- Cruchaga & Goate reply (2015) (5)
- Dysregulated coordination of MAPT exon 2 and exon 10 splicing underlies different tau pathologies in PSP and AD (2021) (5)
- Correction: GWAS on family history of Alzheimer’s disease (2019) (5)
- Correction to: Linkage, whole genome sequence, and biological data implicate variants in RAB10 in Alzheimer’s disease resilience (2018) (5)
- Genome‐wide admixture mapping of DSM‐IV alcohol dependence, criterion count, and the self‐rating of the effects of ethanol in African American populations (2020) (4)
- Genetic Characterization of a Novel Familial Dementia (1991) (4)
- Cruchaga & Goate reply (2015) (4)
- Manifestations of Alzheimer’s disease genetic risk in the blood are evident in a multiomic analysis in healthy adults aged 18 to 90 (2022) (4)
- Integrative network analysis of nineteen brain regions identifies molecular signatures and networks underlying selective regional vulnerability to Alzheimer’s disease (2016) (4)
- A COMMON ALLELE IN SPI1 LOWERS RISK AND DELAYS AGE AT ONSET FOR ALZHEIMER'S DISEASE (2016) (4)
- Genome-wide association study of age at onset of Alzheimer's disease (2009) (4)
- Correction: In Vivo Human Apolipoprotein E Isoform Fractional Turnover Rates in the CNS (2012) (4)
- Erratum: Early behavioural changes in familial Alzheimers disease in the Dominantly Inherited Alzheimer Network (Brain (2015) 138 (103645) (10.1093/brain/awv004)) (2015) (4)
- Mitochondrial DNA copy number is associated with cognitive impairment (2020) (4)
- SNPs in catalytic and regulatory subunits of calcineurin are associated with CSF tau levels and mRNA levels (2009) (4)
- Overview of dominantly inherited AD and top‐line DIAN‐TU results of solanezumab and gantenerumab (2020) (4)
- Metabolomic and lipidomic signatures in autosomal dominant and late-onset Alzheimer disease brains (2021) (4)
- Genetics of b -Amyloid Precursor Protein in Alzheimer’s Disease (2016) (4)
- Alzheimer’s Disease and Chromosome 21 (1989) (4)
- TMEM 106 B gene polymorphism is associated with age at onset in granulin mutation carriers and plasma granulin protein levels (2011) (4)
- Gantenerumab in‐depth outcomes: Results of the DIAN‐TU prevention trial of solanezumab and gantenerumab in dominantly inherited AD (2020) (4)
- Apolipoprotein E4 genotype does not increase risk of HIV-associated neurocognitive disorders (2013) (3)
- Replicating genetic linkage in the collaborative study on the genetics of alcoholism (COGA) (1998) (3)
- Discordant transcriptional signatures of mitochondrial genes in Parkinson’s disease human myeloid cells (2020) (3)
- Smoking and Genetic Risk Variation Across Populations of European, Asian, and African American Ancestry—A Meta‐Analysis of Chromosome 15q25 (2012) (3)
- Allele-Specific Expression and High-Throughput Reporter Assay Reveal Functional Variants in Human Brains with Alcohol Use Disorders (2019) (3)
- Association and expression analyses with SNPs in TOMM40 in Alzheimer's disease (2011) (3)
- The Role of Mitochondrial genome abundance in Alzheimer's Disease (2022) (3)
- Investigation of convergent and divergent genetic influences underlying schizophrenia and alcohol use disorder (2021) (3)
- ERRATUM: Genome‐wide association study identifies loci associated with liability to alcohol and drug dependence that is associated with variability in reward‐related ventral striatum activity in African‐ and European‐Americans (2019) (3)
- Further analysis of previously implicated linkage regions for Alzheimer's disease in affected relative pairs (2009) (3)
- Alternative Processing of c-Secretase Substrates in Common Forms of Mild Cognitive Impairment and Alzheimer’s Disease: Evidence for c-Secretase Dysfunction (2011) (3)
- Genetic nurture effects for alcohol use disorder (2022) (3)
- Evidence for a susceptibility locus for bipolar disorder on chromosome 11p11.5 (1998) (3)
- Discovery and functional prioritization of Parkinson’s disease candidate genes from large-scale whole exome sequencing (2017) (3)
- A rare coding variant alters UNC5C function and predisposes to Alzheimer's disease (2013) (3)
- The future of Alzheimer's disease research: A molecular genetic perspective (1994) (3)
- Ptau-Aβ42 ratio as a continuous trait for biomarker discovery for early stage Alzheimer’s disease in multiplex immunoassay panels of Cerebrospinal fluid (2014) (3)
- A quantitative trait rare variant nonparametric linkage method with application to age-at-onset of Alzheimer’s disease (2020) (3)
- Human fibroblast and stem cell resource from the Dominantly Inherited Alzheimer Network (2018) (3)
- Variants in ACPP are associated with cerebrospinal fluid Prostatic Acid Phosphatase levels (2016) (3)
- Common polygenic variation can predict risk of Alzheimer ’ s disease (2016) (3)
- 17q21.31 Sub-Haplotypes Underlying H1-Associated Risk for Parkinson's Disease and Progressive Supranuclear Palsy Converge on Altered Glial Regulation (2020) (3)
- Regional localization and characterization of a DNA segment on the long arm of chromosome 21 (1987) (3)
- A domain at the C-terminus of PS1 is required for presenilinase and gamma-secretase activities. (2005) (3)
- MASS SPECTROMETRY–BASED MEASUREMENT OF LONGITUDINAL CSF TAU IDENTIFIES DIFFERENT PHOSPHORYLATED SITES THAT TRACK DISTINCT STAGES OF PRESYMPTOMATIC DOMINANTLY INHERITED AD (2018) (2)
- LONGITUDINAL BIOMARKER CHANGES IN AUTOSOMAL DOMINANT ALZHEIMER'S DISEASE FROM THE DIAN STUDY (2017) (2)
- Association of ABCA 1 with late-onset Alzheimer ' s disease is not observed in a case-control study (2016) (2)
- An atlas of cortical circular RNA expression in Alzheimer disease brains demonstrates clinical and pathological associations (2019) (2)
- Human iPSC-derived astrocytes transplanted into the mouse brain display three morphological responses to amyloid-β plaques (2020) (2)
- Age-Specific Incidence Rate For Dementia And Alzheimer’s Disease In NIA-LOAD/NCRAD and EFIGA Families (P2.148) (2014) (2)
- Association of Genes Involved in Calcium and Potassium Pathways with Opioid Dependence (2014) (2)
- Correction: Whole exome sequencing study identifies novel rare and common Alzheimer’s-Associated variants involved in immune response and transcriptional regulation (2019) (2)
- Genome-wide association study of prolactin levels in blood plasma and cerebrospinal fluid (2016) (2)
- Different rates of cognitive decline in autosomal dominant and late‐onset Alzheimer disease (2021) (2)
- Comparison of amyloid burden in individuals with Down syndrome versus autosomal dominant Alzheimer's disease: a cross-sectional study (2023) (2)
- Quantifying the rate of beta-amyloid accumulation in cognitively normal participants using longitudinal [11C] PIB PET imaging (2010) (2)
- Glutamatergic dysfunction precedes neuron loss in cerebral organoids with MAPT mutation (2021) (2)
- Corrigendum to “Biochemical, neuropathological, and neuroimaging characteristics of early-onset Alzheimer's disease due to a novel PSEN1 mutation” [Neurosci. Lett. 487 (2011) 287–292] (2011) (2)
- ARE WHITE MATTER HYPERINTENSITIES A CORE FEATURE OF ALZHEIMER’S DISEASE OR JUST A REFLECTION OF AMYLOID ANGIOPATHY? EVIDENCE FROM THE DOMINANTLY INHERITED ALZHEIMER NETWORK (DIAN) (2016) (2)
- Clinical and Pathologic Features of Chromosome 21‐Linked Familial Alzheimer's Disease (1991) (2)
- Genetic variants associated with susceptibility to psychosis in Late Onset Alzheimer Disease families (2015) (2)
- Mendelian randomization indicates that TNF is not causally associated with Alzheimer's disease (2019) (2)
- Correction: Genetic Evidence Implicates the Immune System and Cholesterol Metabolism in the Aetiology of Alzheimer's Disease (2011) (2)
- Genetic differences between symptomatic and asymptomatic persons with Alzheimer's disease neuropathologic change (2015) (2)
- Genetic Variability and Alzheimer’s Disease (1994) (2)
- Heterogeneous effects of genetic risk for Alzheimer’s disease on the phenome (2021) (2)
- Gantenerumab in‐depth outcomes (2020) (2)
- The Genetic Aetiology of Alzheimer's Disease (1989) (2)
- Association of genetic variants with cerebrospinal fluid protein levels of ACE, MMP3 and other proteins and risk for Alzheimer's disease (2013) (2)
- Elevated PiB precedes dementia in autosomal dominant Alzheimer's disease: PiB, FDG and atrophy in the DIAN cohort (2012) (2)
- Mendelian randomization indicates that TNF is not causally associated with Alzheimer’s disease (2019) (2)
- Reply to Bertram et al. (2006) (1)
- Are early atrophy patterns in autosomal dominant familial Alzheimer's disease gene-dependent? (2013) (1)
- P3.029 Polymorphisms in aldehyde dehydrogenase and the risk of sporadic Parkinson disease (2009) (1)
- WHOLE EXOME SEQUENCING ANALYSIS IN EARLY ONSET ALZHEIMER REVEALS NOVEL CANDIDATE GENES (2019) (1)
- Alcohol reverses the effects of KCNJ6 (GIRK2) noncoding variants on excitability of human glutamatergic neurons (2022) (1)
- Cell Type-Specific In Vitro Gene Expression Profiling of Stem Cell-Derived Neural Models (2020) (1)
- Resting state functional connectivity in autosomal dominant and sporadic Alzheimer's disease (2013) (1)
- Large‐scale sequencing studies expand the known genetic architecture of Alzheimer's disease (2021) (1)
- Plasma glial fibrillary acidic protein in autosomal dominant Alzheimer's disease: Associations with Aβ-PET, neurodegeneration, and cognition. (2022) (1)
- Alcoholism: Collaborative Study on the Genetics of Alcoholism (COGA) (2006) (1)
- Prevalence and growth of cerebral microhemorrhages in autosomal dominant Alzheimer's disease (2013) (1)
- Linkage signals for illicit drug phenotypes (2005) (1)
- No association of polymorphisms in the chat locus with late-onset Alzheimer's disease (2002) (1)
- Polygenic Risk Score of Sporadic late Onset Alzheimer Disease Reveals a Shared Architecture with the Familial and Early Onset Forms (2017) (1)
- Astrocyte-secreted glypican-4 drives APOE4-dependent tau hyperphosphorylation (2022) (1)
- Variants in CCL16 are associated with blood plasma and cerebrospinal fluid CCL16 protein levels (2016) (1)
- Amplitude of Visual P3 Phenotypic Marker for a Event-Related Potential as a Predisposition to Alcoholism: Preliminary Results from the COGA Project (1998) (1)
- TREM2 is associated with increased risk for Alzheimer’s disease in African Americans (2015) (1)
- GENOME-WIDE INTEGRATION OF ALZHEIMER’S DISEASE GENETICS AND MYELOID CELL GENOMICS IDENTIFIES NOVEL RISK GENES EXPRESSED IN MICROGLIA (2019) (1)
- The influence of 17q21.31 and APOE genetic ancestry on neurodegenerative disease risk (2022) (1)
- MitoImpute: A Snakemake pipeline for imputation of mitochondrial genetic variants (2019) (1)
- Recent developments in the genetics of Alzheimer's disease (1997) (1)
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- Exome chip meta-analysis elucidates the genetic architecture of rare coding variants in smoking and drinking behavior (2017) (1)
- Defining the role of PLD3 in Alzheimer’s disease pathology (2021) (1)
- Progressive white matter abnormalities in autosomal dominant Alzheimer's disease: Results of the DIAN study (2012) (1)
- CEREBROSPINAL FLUID LEVELS OF AMYLOID BETA AND TAU AS ENDOPHENOTYPES REVEAL NOVEL VARIANTS POTENTIALLY INFORMATIVE FOR ALZHEIMER'S DISEASE (2016) (1)
- Susceptibility locus for late onset Alzheimer's disease on chromosome 10 (2000) (1)
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- Lack of C 9 ORF 72 coding mutations supports a gain of function for repeat expansions in ALS (2013) (1)
- The New Genetics of Mental Illness (1992) (1)
- 17q21.31 sub-haplotypes underlying H1-associated risk for Parkinson’s disease and progressive supranuclear palsy converge on altered glial regulation (2019) (1)
- A polymorphic microsatellite repeat sequence on chromosome 21 (D21S80). (1991) (1)
- Circular RNA detection identifies circPSEN1 alterations in brain specific to autosomal dominant Alzheimer's disease (2021) (1)
- Comorbid habitual smoking and alcohol dependence: A genomic survey (1998) (1)
- Support for Genetic Association Between Variants in PPP3R1 and MAPT and Rate of Progression of Alzheimer’s Disease (2011) (1)
- P1-331 Familiality and linkage analysis of behavioral symptoms and age at disease onset in late-onset Alzheimer’s disease (2006) (1)
- P3-287: TDP-43 A315T mutation in familial motor neuron disease (2008) (1)
- P3-232: SNPs in SOAT1, TFAM, and CNDP1 are associated with cerebrospinal fluid amyloid-beta levels (2008) (1)
- Pattern and implications of neurological examination findings in autosomal dominant Alzheimer disease (2022) (1)
- The TREM2 Variant p.R47H is a Risk Factor for Sporadic Amyotrophic Lateral Sclerosis (I5-2.002) (2014) (1)
- Experience of stressful life events rather obscures genetic vulnerability of depression and anxiety in normal population : a study of gene – environment interaction (2006) (1)
- Resting state functional connectivity in autosomal dominant and sporadic Alzheimer’s disease (2013) (1)
- Prevalence and growth of cerebral microhemorrhages in autosomal dominant Alzheimer's disease (2013) (1)
- The National Institute on Aging Late‐Onset Alzheimer's Disease Family Based Study: A resource for genetic discovery (2022) (1)
- Solanezumab in‐depth outcomes (2020) (1)
- GENOTYPIC VARIANCE MAY EXPLAIN THE BALANCE OF EARLY CORTICAL VERSUS STRIATAL AMYLOID DEPOSITION IN AUTOSOMAL DOMINANT AD (2017) (1)
- Discovery and validation of dominantly inherited Alzheimer’s disease mutations in populations from Latin America (2022) (1)
- Dosage Transmission Disequilibrium Test (dTDT) for Linkage and Association Detection (2013) (1)
- ABCA7 and MS4A6A expression are upregulated in Alzheimer's disease brains (2012) (1)
- Disrupted functional connectivity in autosomal dominant Alzheimer's disease: Preliminary findings from the DIAN study (2012) (1)
- BDNF VAL66MET MODERATES COGNITIVE IMPAIRMENT, NEURONAL DYSFUNCTION AND TAU IN PRECLINICAL AUTOSOMAL DOMINANT ALZHEIMER’S DISEASE (2016) (1)
- T58 An Endo-Phenotype Approach To The Genetics Of Alcohol Dependence: A Genome Wide Association Study Of Fast BETA EEG In Families Of African Ancestry (2017) (1)
- Generation of a gene-corrected human isogenic iPSC line from an Alzheimer’s disease iPSC line carrying the London mutation in APP (V717I) (2021) (1)
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- Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing (2019) (0)
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- An enrichment of rare variants and the lysosomal pathways are important contributors to early onset Alzheimer disease (2021) (0)
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- Supporting Information Si Text Methods for Cohorts with Categorical Data on Alcohol Intake And (0)
- The Aggregate Effect of Dopamine Genes on Dependence Symptoms Among Cocaine Users: Cross-Validation of a Candidate System Scoring Approach (2012) (0)
- No association of polymorphisms in the cholinergic locus with late-onset Alzheimer's disease. (2002) (0)
- AD‐causing variants that affect PSEN1 transmembrane domains are associated with faster neurodegeneration and cognitive decline compared to those affecting cytoplasmic domains. (2022) (0)
- TRMOME 1143 No . of Pages 2 Spotlight Genes for a ‘ Wellderly ’ Life (2016) (0)
- Prion disease (1990) (0)
- Title An ADH 1 B variant and peer drinking in progression to adolescent drinking milestones : Evidence of a gene-by-environment interaction Permalink (2014) (0)
- Polygenic risk score penetrance & recurrence risk in familial Alzheimer disease. (2023) (0)
- Single-nucleus RNA-sequencing of autosomal dominant Alzheimer disease and risk variant carriers (2023) (0)
- Genome-wide structural variant analysis identifies risk loci for non-Alzheimer’s dementias (2023) (0)
- Phospholipase D3 contributes to Alzheimer's disease risk via disruption of Aβ clearance and microglia response to amyloid plaques (2022) (0)
- Systematic validation of variants of unknown significance in PSEN1 (2021) (0)
- Potter Presenilin Mutation Carriers 42 Production , Exchange , and Loss in β Increased in Vivo Amyloid (2013) (0)
- Genome-wide linkage analyses of non-Hispanic White families identifies novel loci for familial late-onset Alzheimer ' s disease (2016) (0)
- A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks (2013) (0)
- A 3 p2 6 -3 p2 5 g enetic linkage Find ing for dSM -Iv M ajor d epression in H eavy Sm oking Fam ilies (2011) (0)
- P4-067 Genetic association studies of insulin-degrading enzyme (IDE) with late onset Alzheimer's disease (LOAD) - Equivocal results from two large case-control studies (2004) (0)
- Serum neurofilament dynamics predicts neurodegeneration and clinical progression in presymptomatic Alzheimer’s disease (2019) (0)
- Variants in CCL16 are associated with blood plasma and cerebrospinal fluid CCL16 protein levels (2016) (0)
- The clinical phenotype of late-onset autosomal dominant Alzheimer disease due to a PSEN1 mutation resembles sporadic Alzheimer disease: A single-family case-control study (P2.237) (2016) (0)
- Stem cell models of primary tauopathies reveal defects in synaptic function (2021) (0)
- Genome-wide association study of Alzheimer's with psychotic symptoms (2009) (0)
- Exome Sequencing and Genomic Studies To Better Understand Alcohol Dependence (2019) (0)
- Differentiating corticobasal degeneration and Alzheimer disease by longitudinal clinical and cognitive features (2015) (0)
- Variants in two adjacent genes, EGLN2 and CYP2A6 , influence smoking behavior related to disease risk via different mechanisms smoking behaviors including cessation (2013) (0)
- ALZHEIMER'S DISEASE SEQUENCING PROJECT: SEARCH FOR ALZHEIMER'S DISEASE RESILIENCE GENES THAT MAY MODIFY DISEASE SUSCEPTIBILITY IN SPECIFIC APOE GENOTYPE BACKGROUNDS (2016) (0)
- Author ' s personal copy Stress e response pathways are altered in the hippocampus of chronic alcoholics (2013) (0)
- O3-02-06 Linkage analysis of AD SIB pairs indicates evidence of interaction between genes regulating beta-amyloid degradation (2004) (0)
- Defining the role of PLD3 in Alzheimer disease pathology (2021) (0)
- WHAT GOES UP MUST COME DOWN: LONGITUDINAL DECLINE IN CEREBROSPINAL FLUID TAU PEPTIDES IS ASSOCIATED WITH PROGRESSIVE CORTICAL ATROPHY (2018) (0)
- Effect of BDNFVal66Met on disease markers in dominantly inherited AD (2018) (0)
- Investigating psychosis candidate genes in Alzheimer's disease with psychosis using genome-wide association studies (2009) (0)
- Progress toward identification of alcoholism susceptibility genes on chromosome 7 in the COGA dataset (2004) (0)
- Large multi-ethnic genetic analyses of amyloid imaging identify new genes for Alzheimer disease (2023) (0)
- Genetic Insights from the ADSP into Drug Discovery In Alzheimer’s Disease (2022) (0)
- Positional cloning of the chromosome 14 Alzheimer`s disease locus (1994) (0)
- GENOME-WIDE LINKAGE ANALYSES OF AFRICAN AMERICAN FAMILIES SUPPORTS EVIDENCE OF LINKAGE TO CHROMOSOME 12 (2018) (0)
- A common haplotype lowers SPI1 expression in myeloid cells and delays age at onset for Alzheimer’s disease of Alzheimer's Alzheimer's Disease Neuroimaging Initiative (2022) (0)
- P430: Application of ACMG/AMP variant classification guidelines to Alzheimer’s disease-associated genetic variation (2023) (0)
- Progressive white matter injury in autosomal dominant Alzheimer’s disease is strongly associated with cerebral microbleeds and neurodegeneration (2022) (0)
- Fine mapping of Alzheimers disease linkage region on chromosome 10 (2002) (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)
- Differentiating individuals with cognitive complaints due to corticobasal degeneration and Alzheimer disease by clinical features (P5.184) (2016) (0)
- Testing and model for Alzheimer's disease (1992) (0)
- Modeling tauopathies in human pluripotent stem cells (2015) (0)
- associated Alzheimer disease risk : Development and validation of a polygenic hazard score Permalink (2017) (0)
- EXPLORING CELL AUTONOMOUS AND NON-CELL AUTONOMOUS EFFECTS OF APOE GENOTYPE IN IPSC-DERIVED ASTROCYTES AND NEURONS (2016) (0)
- Integrating genetic correlation, polygenic risk scores, and Mendelian randomization to identify modifiable risk factors for Alzheimer’s disease (2022) (0)
- A globally diverse reference alignment and panel for imputation of mitochondrial DNA variants (2021) (0)
- ART ICLE Open Ac ce s s GWAS on family history of Alzheimer ’ s disease (2018) (0)
- GENOME-WIDE LINKAGE ANALYSIS OF AFRICAN-AMERICAN ALZHEIMER DISEASE FAMILIES (2019) (0)
- The genetics of Alzheimer's disease (2000) (0)
- A soluble phosphorylated tau signature links tau, amyloid and the evolution of stages of dominantly inherited Alzheimer’s disease (2020) (0)
- MITOCHONDRIAL HAPLOGROUPS AND A NUCLEAR ENCODED MITOCHONDRIAL POLYGENIC RISK SCORE INTERACT TO INFLUENCE DEMENTIA RISK (2018) (0)
- NOMINATION OF NOVEL CANDIDATE GENES FOR FAMILIAL LATE ONSET ALZHEIMER DISEASE AFTER EVALUATION OF GENE-BASED FAMILY-BASED METHODS (2018) (0)
- Tumor Suppressor Genes in Early Breast Cancer and its Progression (1999) (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)
- Erratum (2016) (0)
- An examination of previously reported Alzheimer candidate genes within a large genome-wide association dataset (2009) (0)
- Mitochondrial genome abundance is associated with Alzheimer’s disease neuropathological burden and cognitive function (2022) (0)
- Lack of an association of BDNF Val66Met polymorphism and plasma BDNF with hippocampal volume and memory (2015) (0)
- Genetic Associations with Age at Dementia Onset in the PSEN1 E280A Colombian Kindred (2020) (0)
- O2-17-06 SAFETYAND TOLERABILITY OF CRENEZUMAB IN MILD-TO-MODERATE AD PATIENTS TREATEDWITH ESCALATING DOSES FOR UP TO 25 MONTHS (2017) (0)
- P1-413 SORBS1, c-ABL and c-CBL; insulin signalling proteins in Alzheimer’s disease (2006) (0)
- Association studies in late onset sporadic Alzheimer`s disease (1994) (0)
- LYSOSOMAL DYSFUNCTION AND ALTERED TAU METABOLISM IN STEM CELL MODELS OF AUTOSOMAL DOMINANT ALZHEIMER’S DISEASE (2018) (0)
- Genetic and Neurophysiological Correlates of the Age of Onset of Alcohol Use Disorders in Adolescents and Young Adults (2013) (0)
- Variants in ACPP are associated with cerebrospinal fluid Prostatic Acid Phosphatase levels (2016) (0)
- Molecular Biology (1965) (0)
- AD‐causing variants that affect PSEN1 transmembrane domains are associated with faster neurodegeneration and cognitive decline compared to those affecting cytoplasmic domains (2022) (0)
- Comparison of amyloid accumulation between Down syndrome and autosomal‐dominant Alzheimer disease (2022) (0)
- S2-01-03 Systematic screens identify novel genes for load susceptibility on chromosomes 9 and 10 (2006) (0)
- ORAL SESSIONS O2-12 MOLECULAR AND CELL BIOLOGY: CELL BIOLOGYAND PHYSIOLOGY O2-12-01 LYSOSOMAL DYSFUNCTION AND ALTERED TAU METABOLISM IN STEM CELL MODELS OFAUTOSOMAL DOMINANTALZHEIMER’S DISEASE (2018) (0)
- Discovery and validation of dominantly inherited Alzheimer’s disease mutations in populations from Latin America (2022) (0)
- Correction to: Linkage, whole genome sequence, and biological data implicate variants in RAB10 in Alzheimer’s disease resilience (2018) (0)
- Identifying loci that modify Alzheimer's disease development: A genome screen (2002) (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)
- CEREBROSPINAL FLUID ENDOPHENOTYPES PROVIDE INSIGHT INTO BIOLOGY UNDERLYING ALZHEIMER'S DISEASE (2017) (0)
- Title- Metabolomic and lipidomic signatures in autosomal dominant and late-onset Alzheimer 1 disease brains (2021) (0)
- DSM-IV nicotine withdrawal and alcohol dependence: Association findings with the Nicotinic Acetylcholine Alpha-3, Alpah-5, Beta-4 Receptor gene cluster in Australian families (2007) (0)
- Comparison of amyloid accumulation between Down syndrome and autosomal‐dominant Alzheimer disease (2022) (0)
- P 01-07 BLOCKING GSK 3 b-MEDIATED DRP 1 PHOSPHORYLATION PROVIDES NEUROPROTECTION AND RESCUES MEMORY DEFICITS IN APPSWE / PS 1 DE 9 TRANSGENIC MICE (2013) (0)
- ALZHEIMER'S DISEASE SEQUENCING PROJECT: SEARCH FOR ALZHEIMER'S DISEASE RESILIENCE GENES THAT MAY MODIFY DISEASE SUSCEPTIBILITY IN SPECIFIC APOE GENOTYPE BACKGROUNDS (2016) (0)
- Cocaine Abuse Dependence Major depressive episode Current Lifetime Marijuana Abuse Dependence Mania Cunent Lifetime Obsessivekompulsive Opioid Abuse Dependence Panic disorder Sedative Abuse Dependence Somatization disorder Stimulant Abuse Deoendence (1998) (0)
- CSF Biomarkers in Down Syndrome and Autosomal Dominant Alzheimer Disease (2021) (0)
- Variability in Alcohol Preference in Maudsley Reactive Inbred Male Rats (2006) (0)
- Identification of Genes that Modify the Age of Onset in a Large Familial Alzheimer's Disease Kindred (2005) (0)
- O2-06-03: Late-onset Alzheimer's Disease–associated SNPS in TOMM40 and APOE have different effects on cerebrospinal fluid amyloid-beta levels (2008) (0)
- Increased Formation Of Amyloid-beta Peptide In CHO NPC1-null Cells Does Not Involve Lipid Rafts (2008) (0)
- Genome-wide association studies of CSF biomarkers (2011) (0)
- Global system segregation enhances reserve in normal aging and Alzheimer’s disease (2020) (0)
- The NEXT Step in Notch Processing and its Relevance to Amyloid Precursor Protein (2001) (0)
- Disrupted functional connectivity in autosomal dominant Alzheimer’s disease demonstrates network specificity and precedes brain volume loss: Findings from DIAN (2013) (0)
- Castellano 2011 Sci Transl Med-1 (2015) (0)
- Farnesyl Transferase Inhibition for the Treatment of Tauopathies (2018) (0)
- The next step in notch processing and its relevance to APP biology (2000) (0)
- Chimeric models to analyze human neuron and astroglia responses in Alzheimer's disease (2020) (0)
- Genome-wide association studies using cerebrospinal fluid biomarkers as an endophenotype for Alzheimer's disease (2012) (0)
- Involvement of vimentin in the reverse transformation (2016) (0)
- Research Article Variants in PPP3R1 and MAPTare associated with more rapid functional decline inAlzheimer's disease: TheCache County Dementia Progression Study (2013) (0)
- Progressive white matter abnormalities in autosomal-dominant Alzheimer's disease: Results of the DIAN study (2012) (0)
- Are early atrophy patterns in autosomal dominant familial Alzheimer's disease gene-dependent? (2013) (0)
- Rare Genetic Variants in APP, PSEN1, PSEN2, GRN, APOE and MAPT Associated with CSF Aß and tau/ptau181 Levels in Patients with Late-Onset Alzheimer’s Disease (2011) (0)
- Implications and frequency of APP, PSEN1, PSEN2, GRN and MAPT mutation in a well-characterized series of late-onset Alzheimer families (2010) (0)
- 495 Association studies between late onset Alzheimer's Disease and the genes encoding the brain receptors for ApoE in a Caucasian population (1996) (0)
- Human glia‐specific functional dysregulations affected by APOE ε4 risk of Alzheimer's disease (2020) (0)
- O2-02-05 Novel candidate genes for late-onset Alzheimer’s disease from a large scale association study of 20K functional variants (2006) (0)
- Role of genetic variation on longitudinal imaging measures of Alzheimer's disease in the ADNI Cohort (2013) (0)
- 780 The role of the presenilin 1 gene in Alzheimer's disease (1996) (0)
- P4-108 Hereditary dysphasic disinhibition dementia 2 is a chromosome 17q21-linked frontotemporal lobar degeneration with ubiquitin-positive, tau-negative inclusions (2006) (0)
- P1-299 Sorbs 1, a candidate gene for the chromosome 10 late onset Alzheimer’s disease locus (2006) (0)
- Association studies of novel polymorphisms in BACE and BACE2 (2000) (0)
- EXOME-SEQUENCING IN LATE-ONSET FAMILIES IDENTIFIED ADDITIONAL CANDIDATES GENES FOR ALZHEIMER'S DISEASE (2014) (0)
- PHOSPHOLIPASE D3 CONTRIBUTES TO ALZHEIMER’S DISEASE RISK VIA DISRUPTION OF Aβ CLEARANCE THROUGH THE LYSOSOME (2017) (0)
- CYP2A6 metabolism in the development of nicotine dependence in adolescents and young adults (2015) (0)
- Higher rate of beta-amyloid accumulation in precuneus in cognitively normal APOE E4 carriers compared to non-carriers (2011) (0)
- A multiple threshold liability model suggests linkage of alcohol dependence to three loci in the COGA data set (2001) (0)
- NOVEL CANDIDATE VARIANTS IN LOAD DETECTED BY THE FAMILIAL ALZHEIMER SEQUENCING (FASE) PROJECT (2017) (0)
- Advances in genetics (2015) (0)
- P4-271 Mutagenesis of APP reveals no correlation between Aβ and AICD production (2004) (0)
- p3-Alc peptides produced by covariant processing of Alcadein and APP implicate γ-secretase dysfunction in sporadic Alzheimer's disease (2009) (0)
- An alternative in vitro model of neurodegeneration in FTLD‐U with PGRN mutation (2008) (0)
- LONGITUDINAL CLINICAL AND BIOMARKER CHANGES IN DOMINANTLY INHERITED ALZHEIMER'S DISEASE: THE DOMINANTLY INHERITED ALZHEIMER NETWORK (2016) (0)
- Cross‐modal associations between traditional and emerging CSF biomarkers and grey matter network disruption in autosomal dominant Alzheimer disease (2020) (0)
- Cross-sectional cerebral volumetric differences and associations with estimated time to age-at-onset in familial Alzheimer's disease: Findings from the DIAN study (2012) (0)
- LINKAGE AND WHOLE GENOME SEQUENCE ANALYSIS OF ALZHEIMER'S DISEASE RESILIENCE AND RISK (2016) (0)
- P4-160 Haplotype structure of the 17Q21 region in progressive supranuclear palsy and corticobasal degeneration (2004) (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)
- Age-specific incidence rates of Alzheimer's disease in family members participating in the NIA-LOAD genetics study (2013) (0)
- UTILITY OF PERFUSION PET MODELS AS MEASURES OF NEURODEGENERATION IN AN AUTOSOMAL DOMINANT ALZHEIMER’S DISEASE POPULATION: REPORT FROM THE DIAN STUDY (2017) (0)
- P4-286 The C-terminal PAL motif in presenilins constitutes part of the gamma-secretase active site pocket (2004) (0)
- Plasma and Cerebrospinal Fluid Markers in the DIAN Study of Autosomal-Dominant Alzheimer’s Disease (2011) (0)
- IC-01-01: Cortical binding of Pittsburgh compound B, an endophenotype for genetic studies of Alzheimer's disease (2008) (0)
- SNPs associated with CSF tau levels modify rate of progression in Alzheimer's disease (2010) (0)
- TMEM106B gene polymorphism is associated with age at onset in granulin mutation carriers and plasma granulin protein levels in healthy individuals (2010) (0)
- Amyloid load increase and cerebral microbleed prevalence differ as a function of the position of the mutation within the PSEN1 coding sequence (2015) (0)
- P4-309 Presenilin 2 familial Alzheimer's disease mutation decrease Aβ and CTFγ while differentially affecting NICD production (2004) (0)
- BDNF VAL66MET INCREASES RATE OF MEMORY DECLINE, HIPPOCAMPAL VOLUME LOSS AND TAU ACCUMULATION IN AUTOSOMAL DOMINANT ALZHEIMER’S DISEASE (2017) (0)
- Processing and activity of two naturally occuring splice variants of presenilin 2 (2002) (0)
- Cerebrospinal heart fatty-acid–binding protein as a biomarker for Alzheimer's disease (2013) (0)
- Cell-type specific gene expression profiling in heterogeneous in vitro cultures using epitope-tagged RPL22 (2020) (0)
- CLINICAL RISK RELATED TO CEREBRAL MICROHEMORRHAGES IN AUTOSOMAL DOMINANT ALZHEIMER’S DISEASE: LONGITUDINAL RESULTS FROM THE DIAN STUDY (2017) (0)
- Effects of amyloid plaques and ApoE4 allele on brain connectivity in cognitively normal elderly (2010) (0)
- P1-341 Are common variants in APP risk factors for late-onset Alzheimer’s disease? (2006) (0)
- GENE-BASED ANALYSES IN WHOLE GENOME SEQUENCING OF FAMILIAL LATE-ONSET ALZHEIMER’S DISEASE (2018) (0)
- P4-106 Evidence for association of the calcium/calmodulin-dependent protein kinase type II gamma isoform (CAMKII γ) with late onset Alzheimer's disease (2004) (0)
- rs5848 variant influences GRN mRNA levels in patients with Alzheimer's Disease. (2009) (0)
- New Gene for Frontotemporal Dementia Identified (2006) (0)
- Extracellular tau levels in cultured cells are influenced by genetic variants associated with dementia (2011) (0)
- P4-283 Endoproteolysis of presenilin-1 is an intramolecular autocatalytic event (2004) (0)
- Genome-wide screen for variants that modify the known relationship between cerebrospinal fluid Beta-Amyloid 42 and ptau levels (2012) (0)
- P3-217: Genetic and functional analysis of progranulin gene variants in patients with Alzheimer's disease (2008) (0)
- Cross-sectional cerebral volumetric differences and associations with estimated time to age-at-onset in familial Alzheimer's disease: Findings from the DIAN study (2012) (0)
- A voxel-based morphometry study of volumetric MRI in familial Alzheimer's disease (2012) (0)
- 44 The genomic structure of the human presenilin genes (1996) (0)
- COMPARATIVE NEUROPATHOLOGIC FEATURES IN HEREDITARY DYSPHASIC DEMENTIA (HDD) AND FAMILIAL AND SPORADIC ALZHEIMERʼS DISEASE (F/SAD) OF EXCEPTIONALLY LONG DURATION: 131 (1995) (0)
- Aberrant tau splicing caused by mutations associated with inherited dementia (2000) (0)
- S2-01-04 Progress toward the identification of novel genetic risk factors for late onset Alzheimer's disease (2004) (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)
- FDG metabolism in the DIAN study of autosomal dominant Alzheimer's disease (2012) (0)
- P3-214: Cerebrospinal fluid tau levels, an endophenotype for genetic studies of Alzheimer's disease (2008) (0)
- Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation (vol 25, pg 1859, 2018) (2020) (0)
- Amyloid load increase and cerebral microbleed prevalence differ as a function of the position of the mutation within the PSEN1 coding sequence (2015) (0)
- P4-063 Very early onset familial Alzheimer's disease with lewy bodies without known causative mutations (2004) (0)
- Brain and hippocampal rates of atrophy in familial Alzheimer's disease mutation carriers: Preliminary findings from the DIAN study (2012) (0)
- P1-455: Subcellular distribution of APP/C99 and amyloid-beta peptide is altered in CHO NPC1-null cells compared to CHOwt (2008) (0)
- Brain and hippocampal rates of atrophy in familial Alzheimer's disease mutation carriers: Preliminary findings from the DIAN study (2012) (0)
- P2-016: Cortical binding of Pittsburgh compound B, an endophenotype for genetic studies of Alzheimer's disease (2008) (0)
- Genome-Wide Association Analyses Using Cerebrospinal Fluid Tau and Phospho-Tau Levels As An Endophenotype for Alzheimer’s Disease (2011) (0)
- Mutagenesis of APP reveals no correlation between Abeta and AICD production (2004) (0)
- ALZHEIMER'S DISEASE RISK VARIANTS IN PHOSPHOLIPASE D3 ALTER APP METABOLISM BY GAMMA-DEPENDENT AND GAMMA-INDEPENDENT MECHANISMS (2014) (0)
- Genetics of Nicotine Addiction (2014) (0)
- Fine mapping of alcoholism related phenotypes on chromosome 1 (2000) (0)
- β Peptide Clearance (2011) (0)
- P2-185: FTLD-U–linked missense mutations in VCP/p97 alter localization of endogenous TDP-43 and induce cell death (2008) (0)
- CTNNA3, CAPRIN2 and SPG20 are significantly associated with Alzheimer's disease in preliminary analyses of a genome-wide association study in African-Americans (2012) (0)
- P1-444: Increased formation of amyloid-β peptide in CHO NPC1-null cells does not involve lipid rafts (2008) (0)
- Association study of recently reported AD risk variants with cerebrospinal fluid AD biomarker levels (2011) (0)
- Dissociating volume and intensity differences in familial Alzheimer's disease (2013) (0)
- Disrupted functional connectivity in autosomal dominant Alzheimer’s disease demonstrates network specificity and precedes brain volume loss: Findings from the Dominantly Inherited Alzheimer Network (2013) (0)
- Patent confusion. (1991) (0)
- A voxel-based morphometry study of volumetric MRI in familial Alzheimer's disease (2012) (0)
- The effects of Alzheimer's disease associated transferrin variants on APP metabolism (2010) (0)
- Gamma-secretase dysfunction in sporadic Alzhemer's disease suggested by p3-Alc peptide, metabolic product of Alcadein (2010) (0)
- Correction: Pathway Analysis of Smoking Quantity in Multiple GWAS Identifies Cholinergic and Sensory Pathways (2013) (0)
- CLINICAL RISK RELATED TO CEREBRAL MICROHEMORRHAGES IN AUTOSOMAL DOMINANT ALZHEIMER’S DISEASE: LONGITUDINAL RESULTS FROM THE DIAN STUDY (2017) (0)
- Gantnerumab In-depth Outcomes (2020) (0)
- Frontotemporal lobar degeneration with ubiquitin-positive inclusions and progranulin mutation in two kindreds (2007) (0)
- Phospholipase d3 contributes to Alzheimer’s disease risk via disruption in app trafficking and Aβ generation (2015) (0)
- Apresenilin-1-dependent g-secretase-likeprotease mediates releaseofNotch intracellulardomain (1999) (0)
- Prevalence of beta-amyloid plaques in a nondemented population using [11C]PIB and PET: Impact of APOE genotype (2009) (0)
- COURSE II The Impact of Human Genetics and Genomics in Neurobiology Organized (2015) (0)
- APP and notch proteolysis by γ-secretase requires that these substrates complex with PS1 (2000) (0)
- Localization of complexes of presenilin and the APP C-terminal fragments C83 and C99 to the subcellular sites of Aβgeneration (2000) (0)
- O2-06-06: SNPS in MAPT are associated with cerebrospinal fluid Tau levels, MAPT mRNA levels, and age at onset of late-onset Alzheimer's disease (2008) (0)
- Dissociating volume and intensity differences in familial Alzheimer's disease (2013) (0)
- P1-443: Increased Aβ formation in CHO NPC1-null cells is not directly related to cholesterol levels (2008) (0)
- Interactive effects of a sedentary lifestyle and the APOE e4 allele on amyloid deposition (2011) (0)
- Neuropathology of preclinical and incipient Alzheimer's dementia (2011) (0)
- Genome-wide association analysis using cerebrospinal fluid Abeta42 levels as an endophenotype for Alzheimer's disease (2011) (0)
- The stability and endoproteolysis of endogenous presenilin-1 (2000) (0)
- APOE Genotype is Associated with Cerebrospinal Fluid and Plasma APOE Levels But Not with APOE Expression Levels (2011) (0)
- NOVEL CODING VARIANTS IN TREM2 INCREASE RISK FOR ALZHEIMER'S DISEASE (2014) (0)
- SORL1 VARIANTS ACROSS ALZHEIMER’S DISEASE COHORTS IN EUROPEAN AMERICANS (2016) (0)
- Novel genetic risk factor for Alzheimer's disease progression [abstract] (2010) (0)
- Multilocus genotype pattern at PICALM, CLU and APOE genes is associated with episodic memory in the NIA-LOAD/NCRAD study (2011) (0)
- Genetic Variants Influencing Human Longevity from Late-Onset Alzheimer’s Disease (LOAD) Genome-Wide Association Studies (GWAS) (2011) (0)
- 3-12-16 A large geographical focus of early onset familial Alzheimer's disease in Antioquia, Colombia (1997) (0)
- UTILITY OF PERFUSION PET MODELS AS MEASURE OF NEURODEGENERATION IN AN AUTOSOMAL DOMINANT ALZHEIMER’S DISEASE POPULATION: REPORT FROM THE DIAN STUDY (2017) (0)
- Effect of Polygenic Risk Score on Alzheimer's Disease Risk Depends on Age and APOE4 Status (2020) (0)
- Further analyses of the NIMH bipolar dataset: Follow up on suggestive linkage results on 1p and 10p (2000) (0)
- Allele frequency heterogeneity in the collaborative study on the genetics of alcoholism (COGA) (2000) (0)
- Elevated PiB precedes dementia in autosomal-dominant Alzheimer's disease: PiB, FDG and atrophy in the DIAN cohort (2012) (0)
- P1-350: Effects of rare genetic variations in ABCA1 on apolipoprotein E levels in human cerebrospinal fluid (2006) (0)
- A novel interaction between AD risk genes synaptojanin 1 and reticulon‐3 potentially impacts synaptic function and endo‐lysosomal trafficking during disease development and progression (2020) (0)
- Clinical, genomic, and neurophysiological correlates of lifetime suicide attempts among individuals with alcohol dependence (2023) (0)
- Genome-wide linkage analysis for quantitative indices of alcohol consumption in Australian adults. Results from the Nicotine Addiction Genetics Project (2007) (0)
- MicroRNA-195 rescues AD-associated lysosomal defects (2021) (0)
- Serum neurofilament dynamics predicts neurodegeneration and clinical progression in presymptomatic Alzheimer’s disease (2019) (0)
- Linkage studies in three large early-onset Alzheimer's disease pedigrees from Colombia (2001) (0)
- A soluble phosphorylated tau signature links tau, amyloid and the evolution of stages of dominantly inherited Alzheimer’s disease (2020) (0)
- Upregulated GIRK2 counteracts ethanol-induced changes in excitability and respiration in human neurons (2023) (0)
- Interview with Alison Goate. (2008) (0)
- Book Review: The New Genetics of Mental Illness (1992) (0)
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