Diagnostic exome sequencing in early-onset Parkinson's disease confirms VPS13C as a rare cause of autosomal-recessive Parkinson's disease

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

(2017) Ari Siitonen et al.   NEUROBIOLOGY OF AGING

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

(2016) Suzanne Lesage et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Specifically neuropathic Gaucher's mutations accelerate cognitive decline in Parkinson's

(2016) Ganqiang Liu et al.   ANNALS OF NEUROLOGY

Whole-Genome Sequencing of a Healthy Aging Cohort

(2016) Galina A. Erikson et al.   CELL

Glucocerebrosidase enzyme activity in GBA mutation Parkinson’s disease

(2016) Roberto A. Ortega et al.   JOURNAL OF CLINICAL NEUROSCIENCE

The importance of dynamic re-analysis in diagnostic whole exome sequencing

(2016) Anna C Need et al.   JOURNAL OF MEDICAL GENETICS

Discovery of a frameshift mutation in podocalyxin-like (PODXL) gene, coding for a neural adhesion molecule, as causal for autosomal-recessive juvenile Parkinsonism

(2016) Sumedha Sudhaman et al.   JOURNAL OF MEDICAL GENETICS

Evidence of mutations inRIC3acetylcholine receptor chaperone as a novel cause of autosomal-dominant Parkinson's disease with non-motor phenotypes

(2016) Sumedha Sudhaman et al.   JOURNAL OF MEDICAL GENETICS

Genetics in Parkinson disease: Mendelian versus non-Mendelian inheritance

(2016) Dena G. Hernandez et al.   JOURNAL OF NEUROCHEMISTRY

Mutation inADORA1identified as likely cause of early-onset parkinsonism and cognitive dysfunction

(2016) Elham Jaberi et al.   MOVEMENT DISORDERS

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Identification of TMEM230 mutations in familial Parkinson's disease

(2016) Han-Xiang Deng et al.   NATURE GENETICS

Analysis of the genetic variability in Parkinson's disease from Southern Spain

(2016) Sara Bandrés-Ciga et al.   NEUROBIOLOGY OF AGING

Mutations of glucocerebrosidase gene and susceptibility to Parkinson’s disease: An updated meta-analysis in a European population

(2016) F. Zhao et al.   NEUROSCIENCE

Whole-Exome Sequencing in Familial Parkinson Disease

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

Association ofGBAMutations and the E326K Polymorphism With Motor and Cognitive Progression in Parkinson Disease

(2016) Marie Y. Davis et al.   JAMA Neurology

Glucocerebrosidase activity in Parkinson’s disease with and withoutGBAmutations

(2015) Roy N. Alcalay et al.   BRAIN

SnapShot: Genetics of Parkinson’s Disease

(2015) José Brás et al.   CELL

Clinical application of whole-exome sequencing across clinical indications

(2015) Kyle Retterer et al.   GENETICS IN MEDICINE

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

A systematic screening to identifyde novomutations causing sporadic early-onset Parkinson's disease

(2015) Celia Kun-Rodrigues et al.   HUMAN MOLECULAR GENETICS

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

(2015) Manabu Funayama et al.   LANCET NEUROLOGY

GBAVariants are associated with a distinct pattern of cognitive deficits in Parkinson's disease

(2015) Ignacio F. Mata et al.   MOVEMENT DISORDERS

Progress in unraveling the genetic etiology of Parkinson disease in a genomic era

(2015) Aline Verstraeten et al.   TRENDS IN GENETICS

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

Exome sequencing in undiagnosed inherited and sporadic ataxias

(2014) Angela Pyle et al.   BRAIN

The prevalence of Parkinson's disease: A systematic review and meta-analysis

(2014) Tamara Pringsheim et al.   MOVEMENT DISORDERS

An exome study of Parkinson’s disease in Sardinia, a Mediterranean genetic isolate

(2014) Marialuisa Quadri et al.   NEUROGENETICS

Parkin (PARK 2) Mutations Are Rare in Czech Patients with Early-Onset Parkinson's Disease

(2014) Ondrej Fiala et al.   PLoS One

Comparison of Parkinson Risk in Ashkenazi Jewish Patients With Gaucher Disease andGBAHeterozygotes

(2014) Roy N. Alcalay et al.   JAMA Neurology

DNAJC13 mutations in Parkinson disease

(2013) Carles Vilariño-Güell et al.   HUMAN MOLECULAR GENETICS

Detection of Clinically Relevant Copy Number Variants with Whole-Exome Sequencing

(2013) Joep de Ligt et al.   HUMAN MUTATION

A common and two novel GBA mutations in Thai patients with Gaucher disease

(2013) Rachaneekorn Tammachote et al.   JOURNAL OF HUMAN GENETICS

Rare variants in LRRK1 and Parkinson's disease

(2013) Eva C. Schulte et al.   NEUROGENETICS

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

(2013) Yaping Yang et al.   NEW ENGLAND JOURNAL OF MEDICINE

Rare Variants in PLXNA4 and Parkinson’s Disease

(2013) Eva C. Schulte et al.   PLoS One

A clinical and family history study of Parkinson's disease in heterozygousglucocerebrosidasemutation carriers

(2012) Alisdair McNeill et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

The glucocerobrosidase E326K variant predisposes to Parkinson's disease, but does not cause Gaucher's disease

(2012) Raquel Duran et al.   MOVEMENT DISORDERS

Penetrance of Parkinson disease in glucocerebrosidase gene mutation carriers

(2012) M. Anheim et al.   NEUROLOGY

Translation Initiator EIF4G1 Mutations in Familial Parkinson Disease

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

Meta-analysis of Parkinson's Disease: Identification of a novel locus, RIT2

(2011) Nathan Pankratz et al.   ANNALS OF NEUROLOGY

Exome sequencing in Parkinson's disease

(2011) JM Bras et al.   CLINICAL GENETICS

The enigma of the E326K mutation in acid β-glucocerebrosidase

(2011) Mia Horowitz et al.   MOLECULAR GENETICS AND METABOLISM

Large-scale screening of the Gaucher's disease-related glucocerebrosidase gene in Europeans with Parkinson's disease

(2010) Suzanne Lesage et al.   HUMAN MOLECULAR GENETICS

Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Greece

(2009) Kallirhoe Kalinderi et al.   NEUROSCIENCE LETTERS

Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson's Disease

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

Mutations in the GIGYF2 (TNRC15) Gene at the PARK11 Locus in Familial Parkinson Disease

(2008) Corinne Lautier et al.   AMERICAN JOURNAL OF HUMAN GENETICS