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List of works by Andrew Singleton

A 6.4 Mb duplication of the α-synuclein locus causing frontotemporal dementia and Parkinsonism: phenotype-genotype correlations

scientific article

A 7.5-Mb duplication at chromosome 11q21-11q22.3 is associated with a novel spastic ataxia syndrome

scientific article

A Bayesian mathematical model of motor and cognitive outcomes in Parkinson's disease

scientific article

A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers

A Novel DYT-5 Mutation with Phenotypic Variability within a Colombian Family

scientific article published on 10 October 2013

A Novel Splice-Acceptor Site Mutation in GRN (c.709-2 A>T) Causes Frontotemporal Dementia Spectrum in a Large Family from Southern Italy

scientific article published on 30 May 2016

A case of dementia with PRNP D178Ncis-129M and no insomnia

scientific article published on October 2009

A common LRRK2 mutation in idiopathic Parkinson's disease

scientific article published on 29 January 2005

A common genetic factor for Parkinson disease in ethnic Chinese population in Taiwan

scientific article

A common variation in deiodinase 1 gene DIO1 is associated with the relative levels of free thyroxine and triiodothyronine

scientific article published on 20 May 2008

A comprehensive screening of copy number variability in dementia with Lewy bodies

scientific article published on 24 October 2018

A consanguineous Turkish family with early-onset Parkinson's disease and an exon 4 parkin deletion.

scientific article

A dominant mutation in FBXO38 causes distal spinal muscular atrophy with calf predominance

scientific journal article

A duplication at chromosome 11q12.2-11q12.3 is associated with spinocerebellar ataxia type 20

scientific article published on 18 September 2008

A generalizable hypothesis for the genetic architecture of disease: pleomorphic risk loci

scientific article

A genome-wide association analysis of serum iron concentrations

scientific article

A genome-wide association search for type 2 diabetes genes in African Americans

scientific article published on 4 January 2012

A genome-wide association study identifies protein quantitative trait loci (pQTLs)

scientific article

A genome-wide association study in multiple system atrophy

scientific article published on 14 September 2016

A genome-wide association study of depressive symptoms

scientific journal article

A genome-wide genotyping study in patients with ischaemic stroke: initial analysis and data release

scientific article

A genome-wide screening and SNPs-to-genes approach to identify novel genetic risk factors associated with frontotemporal dementia

scientific article

A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD

scientific article

A large study reveals no association between APOE and Parkinson's disease ⬇️

scientific article published on February 12, 2012

A meta-analysis and genome-wide association study of platelet count and mean platelet volume in african americans

scientific article

A meta-analysis identifies new loci associated with body mass index in individuals of African ancestry

scientific article

A meta-analysis of gene expression signatures of blood pressure and hypertension

scientific article (publication date: March 2015)

A meta-analysis of genome-wide association studies identifies 17 new Parkinson's disease risk loci.

scientific article published on 11 September 2017

A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies

scientific article published on June 2013

A network-based approach to prioritize results from genome-wide association studies

scientific article

A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease

scientific article

A paradoxical relationship between family history, onset age, and genetic risk in Parkinson's disease

scholarly article by Madeleine Kristiansen et al published February 2019 in Movement Disorders

A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinson's disease

scientific article published on 7 December 2012

A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinson's disease

scientific article published on 13 November 2013

A presenilin 1 mutation associated with familial frontotemporal dementia inhibits gamma-secretase cleavage of APP and notch.

scientific article published in March 2002

A rare truncating mutation in ADH1C (G78Stop) shows significant association with Parkinson disease in a large international sample

scientific article published in January 2005

A simple and efficient algorithm for genome-wide homozygosity analysis in disease

scientific article published on 15 September 2009

A systematic screening to identify de novo mutations causing sporadic early-onset Parkinson's disease

scientific article

A thorough assessment of benign genetic variability in GRN and MAPT.

scientific article

A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis

scientific article

A whole-blood transcriptome meta-analysis identifies gene expression signatures of cigarette smoking

scientific article

ABCA7 p.G215S as potential protective factor for Alzheimer's disease

scientific article published on 20 April 2016

APOE and AβPP gene variation in cortical and cerebrovascular amyloid-β pathology and Alzheimer's disease: a population-based analysis

scientific article

Abundant quantitative trait loci exist for DNA methylation and gene expression in human brain

scientific article

Additional rare variant analysis in Parkinson's disease cases with and without known pathogenic mutations: evidence for oligogenic inheritance

scientific article

Advancing age is associated with gene expression changes resembling mTOR inhibition: evidence from two human populations

scientific article published on 16 July 2012

Age-associated changes in gene expression in human brain and isolated neurons

scientific article

Age-modulated association between prefrontal NAA and the BDNF gene

scientific article

Allelic heterogeneity and more detailed analyses of known loci explain additional phenotypic variation and reveal complex patterns of association

scientific article

Altered alpha-synuclein homeostasis causing Parkinson's disease: the potential roles of dardarin

scientific article

Alzheimer risk loci and associated neuropathology in a population-based study (Vantaa 85+).

scientific article published on 18 January 2018

Alzheimer risk variant CLU and brain function during aging

scientific article

Amyotrophic lateral sclerosis: an emerging era of collaborative gene discovery

scientific article

An exploratory analysis on gene-environment interactions for Parkinson disease

scientific article

Analysis of C9orf72 repeat expansions in a large international cohort of dementia with Lewy bodies.

scientific article

Analysis of IFT74 as a candidate gene for chromosome 9p-linked ALS-FTD

scientific article

Analysis of Nigerians with apparently sporadic Parkinson disease for mutations in LRRK2, PRKN and ATXN3.

scientific article

Analysis of Parkinson disease patients from Portugal for mutations in SNCA, PRKN, PINK1 and LRRK2

scientific article

Analysis of SCA-2 and SCA-3 repeats in Parkinsonism: evidence of SCA-2 expansion in a family with autosomal dominant Parkinson's disease

scientific article published in April 2005

Analysis of an early-onset Parkinson's disease cohort for DJ-1 mutations.

scientific article

Analysis of familial and sporadic restless legs syndrome in age of onset, gender, and severity features

scientific article

Analysis of genome-wide association studies of Alzheimer disease and of Parkinson disease to determine if these 2 diseases share a common genetic risk

scientific article published on October 2013

Analysis of neurodegenerative disease-causing genes in dementia with Lewy bodies

scientific article published on 29 January 2020

Analysis of repeated leukocyte DNA methylation assessments reveals persistent epigenetic alterations after an incident myocardial infarction

Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease

scientific article

Another locus, a new method

scientific article

Apolipoprotein E genotype, cardiovascular biomarkers and risk of stroke: systematic review and meta-analysis of 14,015 stroke cases and pooled analysis of primary biomarker data from up to 60,883 individuals

scientific article

Apolipoprotein E4 is probably responsible for the chromosome 19 linkage peak for Parkinson's disease

article

Application of genome-wide single nucleotide polymorphism typing: simple association and beyond

scientific article

Arguing against the proposed definition changes of PD

scientific article

Assessing the role of DRD5 and DYT1 in two different case-control series with primary blepharospasm.

scientific article

Assessment of Parkinson's disease risk loci in Greece

scientific article published on 27 September 2013

Association between AKT1 gene and Parkinson's disease: a protective haplotype

scientific article

Association between cardiac denervation and parkinsonism caused by alpha-synuclein gene triplication

scientific article

Association of CR1, CLU and PICALM with Alzheimer's disease in a cohort of clinically characterized and neuropathologically verified individuals

scientific article

Association of HFE common mutations with Parkinson's disease, Alzheimer's disease and mild cognitive impairment in a Portuguese cohort

scientific article

Association of cerebrospinal fluid β-amyloid 1-42, T-tau, P-tau181, and α-synuclein levels with clinical features of drug-naive patients with early Parkinson disease

scientific article

Association of integrin alpha2 gene variants with ischemic stroke

scientific article

Author Correction: Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

scientific article published on 01 September 2019

Baseline genetic associations in the Parkinson's Progression Markers Initiative (PPMI)

scientific article

Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation

Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function

scientific article published on 19 January 2018

Biochemical characterization of torsinB.

scientific article published on August 2004

CCAAT-enhancer-binding protein-beta expression in vivo is associated with muscle strength

scientific article

CHCHD2 and Parkinson's disease.

scientific article published in July 2015

CLINICAL AND BIOLOGICAL PREDICTORS FOR COGNITIVE FRAILTY: A POPULATION PREDICTIVE MODEL

CSF biomarkers associated with disease heterogeneity in early Parkinson's disease: the Parkinson's Progression Markers Initiative study

scientific article published on 28 March 2016

Candidate gene polymorphisms for ischemic stroke

scientific article

Canine hereditary ataxia in old english sheepdogs and gordon setters is associated with a defect in the autophagy gene encoding RAB24

scientific article (publication date: February 2014)

Case-control study of dopamine transporter-1, monoamine oxidase-B, and catechol-O-methyl transferase polymorphisms in Parkinson's disease

scientific article published in November 2002

Cell Specific eQTL Analysis without Sorting Cells

scientific article published on 8 May 2015

Cell population-specific expression analysis of human cerebellum ⬇️

scientific article published on November 12, 2012

Cell specific eQTL analysis without sorting cells

Change in Epigenome-Wide DNA Methylation Over 9 Years and Subsequent Mortality: Results From the InCHIANTI Study

scientific article published on 9 September 2015

Characterization of PLA2G6 as a locus for dystonia-parkinsonism

scientific article

Clinical and Dopamine Transporter Imaging Characteristics of Leucine- Rich Repeat Kinase 2 (LRRK2) and Glucosylceramidase Beta (GBA) Parkinson's Disease Participants in the Parkinson's Progression Markers Initiative: A Cross-Sectional Study

scientific article published on 19 February 2020

Clinical and neuropathological correlates of apolipoprotein E genotype in dementia with Lewy bodies

scientific article published in January 2002

Clinical and positron emission tomography of Parkinson's disease caused by LRRK2.

scientific article published in March 2005

Clinical features, with video documentation, of the original familial lewy body parkinsonism caused by α-synuclein triplication (Iowa kindred).

scientific article

Clinical heterogeneity of ATP13A2 linked disease (Kufor-Rakeb) justifies a PARK designation

scientific article

Clinical heterogeneity of alpha-synuclein gene duplication in Parkinson's disease.

scientific article

Clinical-genetic model predicts incident impulse control disorders in Parkinson's disease

scientific article

Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease

scientific article

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

scholarly article

Common genetic variants influence human subcortical brain structures

scientific article

Common lipid-altering gene variants are associated with therapeutic intervention thresholds of lipid levels in older people

scientific article published on 12 May 2009

Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease

scientific article (publication date: May 2011)

Common variants within oxidative phosphorylation genes influence risk of ischemic stroke and intracerebral hemorrhage

scientific article

Common variation in the beta-carotene 15,15'-monooxygenase 1 gene affects circulating levels of carotenoids: a genome-wide association study

scientific article published on 29 January 2009

Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Portugal

scientific article published on 21 December 2007

Comprehensive promoter level expression quantitative trait loci analysis of the human frontal lobe

scientific article published on 10 June 2016

Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDGene database

scientific article

Comprehensive screening of a North American Parkinson's disease cohort for LRRK2 mutation

scientific article

Conflicting results regarding the semaphorin gene (SEMA5A) and the risk for Parkinson disease

scientific article published on June 2006

Cooperative genome-wide analysis shows increased homozygosity in early onset Parkinson's disease

scientific article published on 12 March 2012

Correction to: Linkage, whole genome sequence, and biological data implicate variants in RAB10 in Alzheimer's disease resilience

scientific article published on 12 January 2018

DNA methylation of lipid-related genes affects blood lipid levels

scientific article published on 12 January 2015

DNA methylation signatures of chronic low-grade inflammation are associated with complex diseases

scientific article published on 12 December 2016

DNA methylation-based measures of biological age: meta-analysis predicting time to death

scientific article

DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA

scientific article

Defects in the CAPN1 Gene Result in Alterations in Cerebellar Development and Cerebellar Ataxia in Mice and Humans

scientific article published on 15 June 2016

Defining the ends of Parkin exon 4 deletions in two different families with Parkinson's disease

scientific article published in February 2005

Deletion at ITPR1 underlies ataxia in mice and humans (SCA15)

Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans

scientific article published in June 2007

Deletions at 22q11.2 in idiopathic Parkinson's disease: a combined analysis of genome-wide association data

scientific article

Diagnosis and management of dementia with Lewy bodies: Fourth consensus report of the DLB Consortium

scientific article

Diagnosis of Parkinson's disease on the basis of clinical and genetic classification: a population-based modelling study

scientific article

Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing

scientific article published on 30 January 2017

Distinct DNA methylation changes highly correlated with chronological age in the human brain

scientific article

Does trans size matter in Huntington disease?

scientific article

EIF4G1 mutations do not cause Parkinson's disease

scientific article published on 9 May 2015

Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations

scientific article published on September 2010

Early-onset Parkinson's disease caused by a compound heterozygous DJ-1 mutation

article

Effect modification by population dietary folate on the association between MTHFR genotype, homocysteine, and stroke risk: a meta-analysis of genetic studies and randomised trials

scientific article

Effect of complement CR1 on brain amyloid burden during aging and its modification by APOE genotype

scientific article published on 27 September 2012

Effects of Multiple Genetic Loci on Age at Onset in Frontotemporal Dementia.

scientific article published on 23 January 2017

Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes

scientific article published on 26 February 2018

Emerging pathways in genetic Parkinson's disease: Potential role of ceramide metabolism in Lewy body disease

scientific article published on December 2008

Epigenetic Signatures of Cigarette Smoking

scientific article

Erratum: Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease

scholarly article published in Nature Genetics

Erratum: Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease

article

Erratum: Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11

scholarly article published in Nature Genetics

Erratum: New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk

scientific article published in May 2010

Establishing the role of rare coding variants in known Parkinson's disease risk loci

scientific article published on 2 August 2017

Estimating the causal influence of body mass index on risk of Parkinson disease: A Mendelian randomisation study

scientific article published on 13 June 2017

Ethnic differences in the expression of neurodegenerative disease: Machado-Joseph disease in Africans and Caucasians

scientific article published in September 2002

Exercise-induced dystonia as a preceding symptom of familial Parkinson's disease

scientific article

Exome sequencing expands the mutational spectrum of SPG8 in a family with spasticity responsive to L-DOPA treatment

scientific article published on 24 July 2013

Exome sequencing identifies 2 novel presenilin 1 mutations (p.L166V and p.S230R) in British early-onset Alzheimer's disease

scientific article

Exome sequencing in Brown-Vialetto-van Laere syndrome

scientific article

Exome sequencing in a consanguineous family clinically diagnosed with early-onset Alzheimer's disease identifies a homozygous CTSF mutation

scientific article published on 04 July 2016

Exome sequencing in an SCA14 family demonstrates its utility in diagnosing heterogeneous diseases

scientific article

Exome sequencing reveals an unexpected genetic cause of disease: NOTCH3 mutation in a Turkish family with Alzheimer's disease

scientific article

Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease

scientific article

Familial Parkinsonism and early onset Parkinson's disease in a Brazilian movement disorders clinic: phenotypic characterization and frequency of SNCA, PRKN, PINK1, and LRRK2 mutations

scientific article

Familial frontotemporal dementia with amyotrophic lateral sclerosis and a shared haplotype on chromosome 9p

scientific article

Fine-mapping, gene expression and splicing analysis of the disease associated LRRK2 locus

scientific article

Fine-mapping, novel loci identification, and SNP association transferability in a genome-wide association study of QRS duration in African Americans

scientific article

Frontotemporal dementia and its subtypes: a genome-wide association study

scientific article

G2019S dardarin substitution is a common cause of Parkinson's disease in a Portuguese cohort

scientific article published in December 2005

GWAS of longevity in CHARGE consortium confirms APOE and FOXO3 candidacy

scientific article

Gene expression markers of age-related inflammation in two human cohorts

scientific article

Gene transcripts associated with muscle strength: a CHARGE meta-analysis of 7,781 persons

scientific article

Genes and parkinsonism

scientific article

Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodies.

scientific article

Genetic comorbidities in Parkinson's disease

scientific article published on 20 September 2013

Genetic diversity is a predictor of mortality in humans

scientific article

Genetic evidence implicates the immune system and cholesterol metabolism in the aetiology of Alzheimer's disease

scientific article (publication date: 15 November 2010)

Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

scientific article published on 28 February 2019

Genetic overlap between Alzheimer's disease and Parkinson's disease at the MAPT locus

scientific article

Genetic players in multiple system atrophy: unfolding the nature of the beast

scientific article

Genetic risk and age in Parkinson's disease: Continuum not stratum

scientific article published on 17 March 2015

Genetic risk factors in Finnish patients with Parkinson's disease

scientific article

Genetic screening for a single common LRRK2 mutation in familial Parkinson's disease

scientific article published in The Lancet

Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP

scientific article

Genetic susceptibility in Parkinson's disease

scientific article

Genetic variability at the PARK16 locus

scientific article

Genetic variability in CLU and its association with Alzheimer's disease

scientific article

Genetic variability in the regulation of gene expression in ten regions of the human brain

scientific article

Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk

scientific article published on 6 October 2011

Genetic variation associated with circulating monocyte count in the eMERGE Network

scientific article published on 12 January 2013

Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge

scientific journal article

Genetics in Parkinson disease: Mendelian versus non-Mendelian inheritance

scientific article

Genetics of Parkinson's disease and parkinsonism

scientific article published on October 2006

Genetics of early-onset Parkinson's disease in Finland: exome sequencing and genome-wide association study

scientific article

Genetics of low spinal muscular atrophy carrier frequency in sub-Saharan Africa

scientific article

Genetics. For complex disease genetics, collaboration drives progress

scientific article published in March 2015

Genome wide assessment of young onset Parkinson's disease from Finland

scientific article

Genome-Wide Association Analysis of the Sense of Smell in U.S. Older Adults: Identification of Novel Risk Loci in African-Americans and European-Americans.

scientific article published on 23 November 2016

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

scientific article published in March 2018

Genome-wide Association Study of Vitamin B6, Vitamin B12, Folate, and Homocysteine Blood Concentrations.

scientific article published in May 2009

Genome-wide Meta-analysis on the Sense of Smell Among US Older Adults

scientific article

Genome-wide Pleiotropy Between Parkinson Disease and Autoimmune Diseases

scientific article published on 05 June 2017

Genome-wide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individuals

scientific article published on 20 November 2006

Genome-wide admixture and association study of serum iron, ferritin, transferrin saturation and total iron binding capacity in African Americans

scientific article

Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes

scientific article

Genome-wide analysis of genetic correlation in dementia with Lewy bodies, Parkinson's and Alzheimer's diseases

scientific article published on 2 November 2015

Genome-wide analysis of the heritability of amyotrophic lateral sclerosis

scientific article

Genome-wide assessment of Parkinson's disease in a Southern Spanish population

scientific article published on 11 June 2016

Genome-wide association analyses identify 18 new loci associated with serum urate concentrations

scientific article published in February 2013

Genome-wide association analysis of blood-pressure traits in African-ancestry individuals reveals common associated genes in African and non-African populations

scientific article

Genome-wide association analysis of red blood cell traits in African Americans: the COGENT Network

scientific article published on 26 February 2013

Genome-wide association studies in neurological disorders

scientific article

Genome-wide association study confirms extant PD risk loci among the Dutch

scientific article

Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure

scientific article

Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease

scientific article

Genome-wide association study of neocortical Lewy-related pathology

scientific article

Genome-wide association study of plasma polyunsaturated fatty acids in the InCHIANTI Study

scientific article

Genome-wide association study of vitamin B6, vitamin B12, folate, and homocysteine blood concentrations

scientific article

Genome-wide association study of white blood cell count in 16,388 African Americans: the continental origins and genetic epidemiology network (COGENT).

scientific article

Genome-wide association study reveals genetic risk underlying Parkinson's disease

scientific article

Genome-wide genotyping in Parkinson's disease and neurologically normal controls: first stage analysis and public release of data

scientific journal article

Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data

scientific journal article

Genome-wide meta-analysis for serum calcium identifies significantly associated SNPs near the calcium-sensing receptor (CASR) gene

scientific article

Genome-wide meta-analysis of observational studies shows common genetic variants associated with macronutrient intake

scientific article

Genome-wide screen identifies rs646776 near sortilin as a regulator of progranulin levels in human plasma

scientific article

Genomewide association studies and human disease

scientific article

Genomewide scans in North American families reveal genetic linkage of essential tremor to a region on chromosome 6p23.

scientific article published on 15 May 2006

Genomic risk profiling of ischemic stroke: results of an international genome-wide association meta-analysis

scientific article published on 21 September 2011

Genotype-imputation accuracy across worldwide human populations

scientific article published on February 2009

Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease

scientific article

Head injury, potential interaction with genes, and risk for Parkinson's disease

scientific article published on 8 January 2015

How genetics research in Parkinson's disease is enhancing understanding of the common idiopathic forms of the disease

scientific article

Human Obesity Associated with an Intronic SNP in the Brain-Derived Neurotrophic Factor Locus

scientific article

Human aging is characterized by focused changes in gene expression and deregulation of alternative splicing

scientific article

Human ataxias: a genetic dissection of inositol triphosphate receptor (ITPR1)-dependent signaling

scientific article

IL1RN VNTR polymorphism in ischemic stroke: analysis in 3 populations

scientific article

Identical twins with the C9orf72 repeat expansion are discordant for ALS

scientific article

Identification and prediction of Parkinson’s disease subtypes and progression using machine learning in two cohorts

scientific article published in 2022

Identification of PSEN1 and PSEN2 gene mutations and variants in Turkish dementia patients

scientific article

Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy

scientific article

Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders

scientific article published on 14 April 2013

Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry

scientific article

Identifying likely causal connections between gene expression levels using a Mendelian randomization approach

article

Impact of ancestry and common genetic variants on QT interval in African Americans

scientific article

Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies

scientific article

Imputation of variants from the 1000 Genomes Project modestly improves known associations and can identify low-frequency variant-phenotype associations undetected by HapMap based imputation

scientific article

Influence of Coding Variability in APP-Aβ Metabolism Genes in Sporadic Alzheimer's Disease

scientific article

Initial assessment of the pathogenic mechanisms of the recently identified Alzheimer risk Loci

scientific article published on 30 January 2013

Insufficient evidence for pathogenicity of SNCA His50Gln (H50Q) in Parkinson's disease

scientific article published on 20 December 2017

Integration of GWAS SNPs and tissue specific expression profiling reveal discrete eQTLs for human traits in blood and brain

scientific article

Investigating the genetic architecture of dementia with Lewy bodies: a two-stage genome-wide association study

scientific article published on 16 December 2017

Investigating the role of rare coding variability in Mendelian dementia genes (APP, PSEN1, PSEN2, GRN, MAPT, and PRNP) in late-onset Alzheimer's disease

scientific article

Is the MC1R variant p.R160W associated with Parkinson's?

scientific article published on 21 September 2015

Juvenile onset Parkinsonism with "pure nigral" degeneration and POLG1 mutation.

scientific article

Kinase signaling pathways as potential targets in the treatment of Parkinson's disease

scientific article published on December 2007

Knowledge gaps and research recommendations for essential tremor

scientific article

Kohlschütter-Tönz syndrome: mutations in ROGDI and evidence of genetic heterogeneity

scientific article

LRRK2 exonic variants and risk of multiple system atrophy

scientific article

LRRK2 mutations in a clinic-based cohort of Parkinson's disease

scientific article published on 01 December 2006

LRRK2: Cause, Risk, and Mechanism ⬇️

scientific article published on January 1, 2013

Lack of evidence for a genetic association between FGF20 and Parkinson's disease in Finnish and Greek patients

scientific article

Large C9orf72 repeat expansions are not a common cause of Parkinson's disease

scientific article

Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease

scientific article (publication date: September 2014)

Leukocyte CCR2 expression is associated with mini-mental state examination score in older adults

scientific article

Linkage and association analyses of type 2 diabetes/impaired glucose metabolism and adiponectin serum levels in Japanese Americans from Hawaii

scientific article published on February 2007

Linkage disequilibrium and association analysis of alpha-synuclein and alcohol and drug dependence in two American Indian populations

scientific article published on April 2007

Linkage, whole genome sequence, and biological data implicate variants in RAB10 in Alzheimer's disease resilience

scientific article published on 29 November 2017

Longitudinal change of clinical and biological measures in early Parkinson's disease: Parkinson's progression markers initiative cohort

scientific article published on 23 March 2018

Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy

scientific journal article

Loss-of-function mutations in RAB39B are associated with typical early-onset Parkinson disease

scientific article

MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies

scientific article

Make dopamine neurons great again: An exciting new therapeutic option in parkinson's disease

scientific article

Measures of autozygosity in decline: globalization, urbanization, and its implications for medical genetics

scientific article

Meeting report: consensus statement-Parkinson's disease and the environment: collaborative on health and the environment and Parkinson's Action Network (CHE PAN) conference 26-28 June 2007

scientific article

Mendelian adult-onset leukodystrophy genes in Alzheimer's disease: critical influence of CSF1R and NOTCH3.

scientific article published on 2 February 2018

Menopause accelerates biological aging

scientific article

Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways

scientific article

Meta-analysis of epigenome-wide association studies of cognitive abilities

scientific article published on 8 January 2018

Meta-analysis of genome-wide association data identifies two loci influencing age at menarche

scientific article

Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations

scientific article

Meta-analysis of genome-wide association studies in African Americans provides insights into the genetic architecture of type 2 diabetes

scientific article

Molecular genetic overlap in bipolar disorder, schizophrenia, and major depressive disorder

scientific article

Multi-modality machine learning predicting Parkinson's disease

scientific article published on 01 April 2022

Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease.

scientific article

Multimodal neuroimaging and behavioral assessment of α-synuclein polymorphism rs356219 in older adults

scientific article published on 10 February 2018

Multiple loci are associated with white blood cell phenotypes

scientific article

Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium

scientific article

Multiple modality biomarker prediction of cognitive impairment in prospectively followed de novo Parkinson disease

scientific article

Multiple system atrophy is not caused by C9orf72 hexanucleotide repeat expansions

scientific article

Multiple system atrophy: the application of genetics in understanding etiology

scientific article published on 17 February 2015

Mutation Frequency of the Major Frontotemporal Dementia Genes, MAPT, GRN and C9ORF72 in a Turkish Cohort of Dementia Patients

scientific article

Mutation analysis of patients with neurodegenerative disorders using NeuroX array

scientific article

Mutation analysis of patients with neuronal intermediate filament inclusion disease (NIFID).

scientific article published on 7 July 2005

Mutation analysis of sporadic early-onset Alzheimer's disease using the NeuroX array

scientific article published on 23 September 2016

Mutation at the SCA17 locus is not a common cause of parkinsonism

scientific article published on 01 August 2003

Mutation of the Parkin gene in a Persian family: clinical progression over a 40-year period.

scientific article published in July 2005

Mutational analysis of parkin and PINK1 in multiple system atrophy

scientific article published on 19 January 2010

Mutational analysis of the VCP gene in Parkinson's disease

scientific article published on 13 September 2011

Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity

scientific article published on 17 January 2013

Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11.

scientific article

Mutations in TYROBP are not a common cause of dementia in a Turkish cohort

scientific article

Mutations in neurofilament genes are not a significant primary cause of non-SOD1-mediated amyotrophic lateral sclerosis

scientific article published on 3 August 2005

Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis

scientific article (publication date: May 2014)

Mutations in the gene LRRK2 encoding dardarin (PARK8) cause familial Parkinson's disease: clinical, pathological, olfactory and functional imaging and genetic data

scientific article

NFAT5 and SLC4A10 Loci Associate with Plasma Osmolality

scientific article published on 30 March 2017

NOTCH3 variants and risk of ischemic stroke

scientific article

Nature versus Nurture: Death of a Dogma, and the Road Ahead ⬇️

scientific article published on October 21, 2010

NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases

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NeuroX, a fast and efficient genotyping platform for investigation of neurodegenerative diseases

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Neurofibrillary tau pathology modulated by genetic variation of alpha-synuclein

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New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk

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New loci associated with kidney function and chronic kidney disease

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Next generation sequencing techniques in neurological diseases: redefining clinical and molecular associations

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Next-generation sequencing reveals substantial genetic contribution to dementia with Lewy bodies

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No association between polymorphisms in the glutamate transporter SLC1A2 and Parkinson's disease

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No clear support for a role for vitamin D in Parkinson's disease: A Mendelian randomization study

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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

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Normal localization of deltaF323-Y328 mutant torsinA in transfected human cells

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Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy

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Novel GCH1 mutation in a Brazilian family with dopa-responsive dystonia

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Novel genetic loci associated with hippocampal volume

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Novel genetic loci underlying human intracranial volume identified through genome-wide association

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Novel loci associated with PR interval in a genome-wide association study of 10 African American cohorts

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Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals

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POLG1 polyglutamine tract variants associated with Parkinson's disease

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Paraoxonase 1 (PON1) gene polymorphisms and Parkinson's disease in a Finnish population

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Parkinson disease and clathrin coat dynamics at synapses, why not?

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Parkinson's disease and dementia with Lewy bodies: a difference in dose?

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Parkinson's disease and low frequency alleles found together throughout LRRK2.

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Parkinson's disease and α-synuclein expression

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Parkinson's disease determinants, prediction and gene-environment interactions in the UK Biobank

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Parkinson's disease in GTP cyclohydrolase 1 mutation carriers

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Parkinson's disease: From human genetics to clinical trials

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Parkinson’s families project: a UK-wide study of early onset and familial Parkinson’s disease

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Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

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Peripheral Blood Transcriptomic Signatures of Fasting Glucose and Insulin Concentrations

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Phosphodiesterase 4D and 5-lipoxygenase activating protein in ischemic stroke

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Plasma 24-metabolite Panel Predicts Preclinical Transition to Clinical Stages of Alzheimer's Disease

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Polygenic risk of Parkinson disease is correlated with disease age at onset

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Polygenic risk score in postmortem diagnosed sporadic early-onset Alzheimer's disease

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Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes

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Predicting onset, progression, and clinical subtypes of Parkinson disease using machine learning

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Predicting progression in patients with Parkinson's disease

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Primary hyperhidrosis--evidence for autosomal dominant inheritance

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Principal-component analysis for assessment of population stratification in mitochondrial medical genetics

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Prion genotypes in Central America suggest selection for the V129 allele

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Profile of families with parkinsonism-predominant spinocerebellar ataxia type 2 (SCA2).

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Rare and Coding Region Genetic Variants Associated With Risk of Ischemic Stroke: The NHLBI Exome Sequence Project

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Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease

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Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia

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Rare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositis

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Refinement of the PARK3 locus on chromosome 2p13 and the analysis of 14 candidate genes

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Repeat expansion in C9ORF72 in Alzheimer's disease

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Research priorities in spasmodic dysphonia

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Resolving the polymorphism-in-probe problem is critical for correct interpretation of expression QTL studies

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SCA15 due to large ITPR1 deletions in a cohort of 333 white families with dominant ataxia

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SCA2 may present as levodopa-responsive parkinsonism

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SLC25A46 Mutations Associated with Autosomal Recessive Cerebellar Ataxia in North African Families

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SNCA variants are associated with increased risk for multiple system atrophy

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Screening exons 16 and 17 of the amyloid precursor protein gene in sporadic early-onset Alzheimer's disease

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Senile systemic amyloidosis affects 25% of the very aged and associates with genetic variation in alpha2-macroglobulin and tau: a population-based autopsy study

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Sequencing analysis of OMI/HTRA2 shows previously reported pathogenic mutations in neurologically normal controls

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Sequencing analysis of the ITPR1 gene in a pure autosomal dominant spinocerebellar ataxia series

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Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging

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Shared biological pathways for frailty and cognitive impairment: A systematic review

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Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis

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Smell testing is abnormal in ‘lubag’ or X-linked dystonia-parkinsonism: a pilot study

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Smoking-responsive juvenile-onset Parkinsonism

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Splice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intolerance

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Splicing factor 3B1 hypomethylation is associated with altered SF3B1 transcript expression in older humans

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Structural genomic variation in ischemic stroke

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Susceptibility genes in movement disorders

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Susceptibility loci for pigmentation and melanoma in relation to Parkinson's disease

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Systematic identification of trans eQTLs as putative drivers of known disease associations

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TDP-43 is not a common cause of sporadic amyotrophic lateral sclerosis

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TREM2 Variants in Alzheimer's Disease ⬇️

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Targeting α-synuclein for treatment of Parkinson's disease: mechanistic and therapeutic considerations

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The Birth of the Modern Era of Parkinson's Disease Genetics

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The Effect of Survival Bias on Case-Control Genetic Association Studies of Highly Lethal Diseases ⬇️

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The Evolution of Genetics: Alzheimer's and Parkinson's Diseases

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The HapMap: charting a course for genetic discovery in neurological diseases

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The Parkinson's progression markers initiative (PPMI) - establishing a PD biomarker cohort

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The TOR1A polymorphism rs1182 and the risk of spread in primary blepharospasm

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The Val158Met COMT polymorphism is a modifier of the age at onset in Parkinson's disease with a sexual dimorphism

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The dardarin G 2019 S mutation is a common cause of Parkinson's disease but not other neurodegenerative diseases

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The endocytic membrane trafficking pathway plays a major role in the risk of Parkinson's disease

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The genetics and neuropathology of Parkinson's disease

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The genetics of Parkinson's disease: Progress and therapeutic implications ⬇️

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The human prion gene M129V polymorphism is not associated with idiopathic Parkinson's disease in three distinct populations

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The interleukin-6 receptor as a target for prevention of coronary heart disease: a mendelian randomisation analysis

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The law of mass action applied to neurodegenerative disease: a hypothesis concerning the etiology and pathogenesis of complex diseases

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The role of variation at AβPP, PSEN1, PSEN2, and MAPT in late onset Alzheimer's disease

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Torsin A haplotype predisposes to idiopathic dystonia

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Towards a complete resolution of the genetic architecture of disease

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Towards a gene expression biomarker set for human biological age.

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Trans-ethnic meta-analysis of white blood cell phenotypes

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Transcriptomic profiling of the human brain reveals that altered synaptic gene expression is associated with chronological aging

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Tremor dominant parkinsonism: Clinical description and LRRK2 mutation screening

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Two-stage association study and meta-analysis of mitochondrial DNA variants in Parkinson disease

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Tyrosinase exacerbates dopamine toxicity but is not genetically associated with Parkinson's disease

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Unaltered alpha-synuclein blood levels in juvenile Parkinsonism with a parkin exon 4 deletion

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Use of support vector machines for disease risk prediction in genome-wide association studies: concerns and opportunities

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Using DNA Methylation to Understand Biological Consequences of Genetic Variability ⬇️

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Using genome-wide complex trait analysis to quantify 'missing heritability' in Parkinson's disease

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Using genome-wide complex trait analysis to quantify ‘missing heritability’ in Parkinson's disease

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Variability in clinical phenotypes of heterozygous and homozygous cases of Parkin-related Parkinson's disease

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Variation in tau isoform expression in different brain regions and disease states

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What does PINK1 mean for Parkinson diseases?

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What success can teach us about failure: the plasma metabolome of older adults with superior memory and lessons for Alzheimer's disease

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What's the FUS!

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Whole blood gene expression and interleukin-6 levels

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Whole genome analyses suggest ischemic stroke and heart disease share an association with polymorphisms on chromosome 9p21.

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Whole genome association studies: deciding when persistence becomes perseveration

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Whole-genome sequencing to understand the genetic architecture of common gene expression and biomarker phenotypes

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X-linked dystonia (“Lubag”) presenting predominantly with parkinsonism: A more benign phenotype?

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X-linked recessive dystonia parkinsonism (XDP; Lubag; DYT3)

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alpha-Synuclein locus triplication causes Parkinson's disease

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