An updated review of Parkinson's disease genetics and clinicopathological correlations

Precision Public Health for the Era of Precision Medicine

(2016) Muin J. Khoury et al.   AMERICAN JOURNAL OF PREVENTIVE MEDICINE

Whole-Exome Sequencing in Familial Parkinson Disease

(2016) Janice L. Farlow et al.   JAMA Neurology

TheEIF4G1gene and Parkinson's disease

(2015) H. Deng et al.   ACTA NEUROLOGICA SCANDINAVICA

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

(2015) Valentina Escott-Price et al.   ANNALS OF NEUROLOGY

New insights into the genetics of X-linked dystonia-parkinsonism (XDP, DYT3)

(2015) Aloysius Domingo et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Parkinsonism, cognitive deficit and behavioural disturbance caused by a novel mutation in the polymerase gamma gene

(2015) Manuel Delgado-Alvarado et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

CHCHD2 and Parkinson's disease

(2015) Jia Nee Foo et al.   LANCET NEUROLOGY

CHCHD2 mutations in autosomal dominant late-onset Parkinson's disease: a genome-wide linkage and sequencing study

(2015) Manabu Funayama et al.   LANCET NEUROLOGY

Impact of Parkinson's disease risk loci on age at onset

(2015) Christina M. Lill et al.   MOVEMENT DISORDERS

MDS clinical diagnostic criteria for Parkinson's disease

(2015) Ronald B. Postuma et al.   MOVEMENT DISORDERS

Mutation analysis of CHCHD2 gene in Chinese familial Parkinson's disease

(2015) Zhenhua Liu et al.   NEUROBIOLOGY OF AGING

Mitochondrial targeting sequence variants of theCHCHD2gene are a risk for Lewy body disorders

(2015) Kotaro Ogaki et al.   NEUROLOGY

Differential effects of severe vs mild GBA mutations on Parkinson disease

(2015) Z. Gan-Or et al.   NEUROLOGY

Mutations in RAB39B Cause X-Linked Intellectual Disability and Early-Onset Parkinson Disease with α-Synuclein Pathology

(2014) Gabrielle R. Wilson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

POLG1-related levodopa-responsive parkinsonism

(2014) Rita Miguel et al.   CLINICAL NEUROLOGY AND NEUROSURGERY

Cognitive impairment in rapid-onset dystonia-parkinsonism

(2014) Jared F. Cook et al.   MOVEMENT DISORDERS

G51D α-synuclein mutation causes a novel Parkinsonian-pyramidal syndrome

(2013) Suzanne Lesage et al.   ANNALS OF NEUROLOGY

Mutations inEIF4G1are not a common cause of Parkinson's disease

(2013) A. Siitonen et al.   EUROPEAN JOURNAL OF NEUROLOGY

Recent advances in Parkinson’s disease genetics

(2013) Steven Lubbe et al.   JOURNAL OF NEUROLOGY

Perry syndrome: A disorder to consider in the differential diagnosis of Parkinsonism

(2013) B.M. Aji et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Alpha-synuclein p.H50Q, a novel pathogenic mutation for Parkinson's disease

(2013) Silke Appel-Cresswell et al.   MOVEMENT DISORDERS

A novel  -synuclein missense mutation in Parkinson disease

(2013) C. Proukakis et al.   NEUROLOGY

Clinical Approach to Parkinson's Disease: Features, Diagnosis, and Principles of Management

(2013) J. Massano et al.   Cold Spring Harbor Perspectives in Medicine

F-Box Only Protein 7 Gene in Parkinsonian-Pyramidal Disease

(2013) Hao Deng et al.   JAMA Neurology

The genetics and neuropathology of Parkinson’s disease

(2012) Henry Houlden et al.   ACTA NEUROPATHOLOGICA

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

(2012) M. F. Keller et al.   HUMAN MOLECULAR GENETICS

A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants

(2012) Manu Sharma et al.   JOURNAL OF MEDICAL GENETICS

EIF4G1 in familial Parkinson's disease: pathogenic mutations or rare benign variants?

(2012) Suzanne Lesage et al.   NEUROBIOLOGY OF AGING

Psychiatric disorders in rapid-onset dystonia-parkinsonism

(2012) A. Brashear et al.   NEUROLOGY

Fixing the broken system of genetic locus symbols: Parkinson disease and dystonia as examples

(2012) C. Marras et al.   NEUROLOGY

Penetrance of Parkinson disease in glucocerebrosidase gene mutation carriers

(2012) M. Anheim et al.   NEUROLOGY

Study of the genetic variability in a Parkinson's Disease gene: EIF4G1

(2012) Arianna Tucci et al.   NEUROSCIENCE LETTERS

DNAJC6 is responsible for juvenile parkinsonism with phenotypic variability

(2012) Çiğdem Köroğlu et al.   PARKINSONISM & RELATED DISORDERS

A Deleterious Mutation in DNAJC6 Encoding the Neuronal-Specific Clathrin-Uncoating Co-Chaperone Auxilin, Is Associated with Juvenile Parkinsonism

(2012) Simon Edvardson et al.   PLoS One

Comprehensive Research Synopsis and Systematic Meta-Analyses in Parkinson's Disease Genetics: The PDGene Database

(2012) Christina M. Lill et al.   PLoS Genetics

A Mutation in VPS35, Encoding a Subunit of the Retromer Complex, Causes Late-Onset Parkinson Disease

(2011) Alexander Zimprich et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Translation Initiator EIF4G1 Mutations in Familial Parkinson Disease

(2011) Marie-Christine Chartier-Harlin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

VPS35 Mutations in Parkinson Disease

(2011) Carles Vilariño-Güell et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genetic counseling and testing for Alzheimer disease: Joint practice guidelines of the American College of Medical Genetics and the National Society of Genetic Counselors

(2011) Jill S Goldman et al.   GENETICS IN MEDICINE

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

(2011)   LANCET

Alzheimer's disease

(2011) Clive Ballard et al.   LANCET

Syndromes of neurodegeneration with brain iron accumulation (NBIA): An update on clinical presentations, histological and genetic underpinnings, and treatment considerations

(2011) Susanne A. Schneider et al.   MOVEMENT DISORDERS

Screening for VPS35 mutations in Parkinson's disease

(2011) Una-Marie Sheerin et al.   NEUROBIOLOGY OF AGING

Web-Based Genome-Wide Association Study Identifies Two Novel Loci and a Substantial Genetic Component for Parkinson's Disease

(2011) Chuong B. Do et al.   PLoS Genetics

A Two-Stage Meta-Analysis Identifies Several New Loci for Parkinson's Disease

(2011) et al.   PLoS Genetics

PINK1-linked parkinsonism is associated with Lewy body pathology

(2010) Lluís Samaranch et al.   BRAIN

Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update

(2010) Karen Nuytemans et al.   HUMAN MUTATION

Novel pathogenic LRRK2 p.Asn1437His substitution in familial Parkinson's disease

(2010) Jan O. Aasly et al.   MOVEMENT DISORDERS

Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability

(2010) Lucio Santoro et al.   NEUROGENETICS

Association of Glucocerebrosidase Mutations With Dementia With Lewy Bodies

(2009) Lorraine N. Clark et al.   ARCHIVES OF NEUROLOGY

Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease

(2009) Wataru Satake et al.   NATURE GENETICS

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

(2009) Javier Simón-Sánchez et al.   NATURE GENETICS

Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson's Disease

(2009) E. Sidransky et al.   NEW ENGLAND JOURNAL OF MEDICINE

PARK11 gene (GIGYF2) variants Asn56Ser and Asn457Thr are not pathogenic for Parkinson's disease

(2009) Alexander Zimprich et al.   PARKINSONISM & RELATED DISORDERS

Genome-wide Linkage Analysis of a Parkinsonian-Pyramidal Syndrome Pedigree by 500 K SNP Arrays

(2008) Seyedmehdi Shojaee et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutation Analysis of the PINK1 Gene in 391 Patients With Parkinson Disease

(2008) Ryuya Kumazawa et al.   ARCHIVES OF NEUROLOGY

The Spectrum of Parkinsonian Manifestations Associated With Glucocerebrosidase Mutations

(2008) Ozlem Goker-Alpan et al.   ARCHIVES OF NEUROLOGY

Genomewide association study for susceptibility genes contributing to familial Parkinson disease

(2008) Nathan Pankratz et al.   HUMAN GENETICS

Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study

(2008) Daniel G Healy et al.   LANCET NEUROLOGY

Parkinsonism associated with the homozygous W748S mutation in the POLG1 gene

(2008) A.M. Remes et al.   PARKINSONISM & RELATED DISORDERS

Genetic variation of Omi/HtrA2 and Parkinson's disease

(2008) Owen A. Ross et al.   PARKINSONISM & RELATED DISORDERS

Familial parkinsonism: Study of original Sagamihara PARK8 (I2020T) kindred with variable clinicopathologic outcomes

(2008) Kazuko Hasegawa et al.   PARKINSONISM & RELATED DISORDERS

Parkinsonism in FMR1 premutation carriers may be indistinguishable from Parkinson disease

(2008) Deborah A. Hall et al.   PARKINSONISM & RELATED DISORDERS