Advances in the genetics of Parkinson disease

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

(2013) Suzanne Lesage et al.   ANNALS OF NEUROLOGY

Interplay of LRRK2 with chaperone-mediated autophagy

(2013) Samantha J Orenstein et al.   NATURE NEUROSCIENCE

Whole exome sequencing of rare variants in EIF4G1 and VPS35 in Parkinson disease

(2013) K. Nuytemans et al.   NEUROLOGY

A novel  -synuclein missense mutation in Parkinson disease

(2013) C. Proukakis et al.   NEUROLOGY

RAB7L1 Interacts with LRRK2 to Modify Intraneuronal Protein Sorting and Parkinson’s Disease Risk

(2013) David A. MacLeod et al.   NEURON

Disruption of Protein Quality Control in Parkinson's Disease

(2013) C. Cook et al.   Cold Spring Harbor Perspectives in Medicine

Two Faces of the Same Coin: Benign Familial Infantile Seizures and Paroxysmal Kinesigenic Dyskinesia Caused by PRRT2 Mutations

(2012) Alexander Schmidt   ARCHIVES OF NEUROLOGY

Cellular effects of LRRK2 mutations

(2012) Mark R. Cookson   BIOCHEMICAL SOCIETY TRANSACTIONS

Exosomes: vesicular carriers for intercellular communication in neurodegenerative disorders

(2012) Anja Schneider et al.   CELL AND TISSUE RESEARCH

Primate segmental duplication creates novel promoters for theLRRC37gene family within the 17q21.31 inversion polymorphism region

(2012) Cemalettin Bekpen et al.   GENOME RESEARCH

The role of large pedigrees in an era of high-throughput sequencing

(2012) Ellen M. Wijsman   HUMAN GENETICS

Deep sequencing of theLRRK2gene in 14,002 individuals reveals evidence of purifying selection and independent origin of the p.Arg1628Pro mutation in Europe

(2012) Justin P. Rubio et al.   HUMAN MUTATION

Monomeric Synucleins Generate Membrane Curvature

(2012) Christopher H. Westphal et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The retromer complex - endosomal protein recycling and beyond

(2012) M. N. J. Seaman   JOURNAL OF CELL SCIENCE

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

The link between the GBA gene and parkinsonism

(2012) Ellen Sidransky et al.   LANCET NEUROLOGY

Homozygous deletion of an 80kb region comprising part of DNAJC6 and LEPR genes on chromosome 1P31.3 is associated with early onset obesity, mental retardation and epilepsy

(2012) Virginie Vauthier et al.   MOLECULAR GENETICS AND METABOLISM

VPS35mutation in Japanese patients with typical Parkinson's disease

(2012) Maya Ando et al.   MOVEMENT DISORDERS

Association between Parkinson's disease and the HLA-DRB1 locus

(2012) Ismaïl Ahmed et al.   MOVEMENT DISORDERS

Diagnostic criteria for mild cognitive impairment in Parkinson's disease: Movement Disorder Society Task Force guidelines

(2012) Irene Litvan et al.   MOVEMENT DISORDERS

Molecular machines governing exocytosis of synaptic vesicles

(2012) Reinhard Jahn et al.   NATURE

100 years of Lewy pathology

(2012) Michel Goedert et al.   Nature Reviews Neurology

MutantGBA1Expression and Synucleinopathy Risk: First Insights from Cellular and Mouse Models

(2012) S. Pablo Sardi et al.   Neurodegenerative Diseases

Variants in eukaryotic translation initiation factor 4G1 in sporadic Parkinson’s disease

(2012) Eva C. Schulte et al.   NEUROGENETICS

GBA mutations increase risk for Lewy body disease with and without Alzheimer disease pathology

(2012) D. Tsuang et al.   NEUROLOGY

Identification of VPS35 mutations replicated in French families with Parkinson disease

(2012) S. Lesage et al.   NEUROLOGY

LRRK2 I2020T mutation is associated with tau pathology

(2012) Sachiko Ujiie et al.   PARKINSONISM & RELATED DISORDERS

Distinct Initial SNARE Configurations Underlying the Diversity of Exocytosis

(2012) Haruo Kasai et al.   PHYSIOLOGICAL REVIEWS

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

Pathological  -Synuclein Transmission Initiates Parkinson-like Neurodegeneration in Nontransgenic Mice

(2012) K. C. Luk et al.   SCIENCE

Mitochondrial Quality Control Mediated by PINK1 and Parkin: Links to Parkinsonism

(2012) D. Narendra et al.   Cold Spring Harbor Perspectives in Biology

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

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

The Use of Next-Generation Sequencing in Movement Disorders

(2012) Catharine E. Krebs et al.   Frontiers in Genetics

Neuropathology underlying clinical variability in patients with synucleinopathies

(2011) Glenda M. Halliday et al.   ACTA NEUROPATHOLOGICA

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

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

(2011) Nathan Pankratz et al.   ANNALS OF NEUROLOGY

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

(2011) Javier Simón-Sánchez et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

(2011)   LANCET

Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case–control study

(2011) Owen A Ross et al.   LANCET NEUROLOGY

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

(2011) Günter U Höglinger et al.   NATURE GENETICS

Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease

(2011) Adam C Naj et al.   NATURE GENETICS

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

(2011) Paul Hollingworth et al.   NATURE GENETICS

Heritability of Parkinson disease in Swedish twins: a longitudinal study

(2011) Karin Wirdefeldt et al.   NEUROBIOLOGY OF AGING

Screening for VPS35 mutations in Parkinson's disease

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

Recruitment of Endophilin to Clathrin-Coated Pit Necks Is Required for Efficient Vesicle Uncoating after Fission

(2011) Ira Milosevic et al.   NEURON

Recent Advances in Retromer Biology

(2011) Ian J. McGough et al.   TRAFFIC

Genome-Wide Gene-Environment Study Identifies Glutamate Receptor Gene GRIN2A as a Parkinson's Disease Modifier Gene via Interaction with Coffee

(2011) Taye H. Hamza et al.   PLoS Genetics

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

Genome-Wide Association Study Confirms SNPs inSNCAand theMAPTRegion as Common Risk Factors for Parkinson Disease

(2010) Todd L. Edwards et al.   ANNALS OF HUMAN GENETICS

Association of α-, β-, and γ-Synuclein With Diffuse Lewy Body Disease

(2010) Kenya Nishioka et al.   ARCHIVES OF NEUROLOGY

Quantification of α-synuclein in cerebrospinal fluid as a biomarker candidate: review of the literature and considerations for future studies

(2010) Brit Mollenhauer et al.   Biomarkers in Medicine

PINK1-linked parkinsonism is associated with Lewy body pathology

(2010) Lluís Samaranch et al.   BRAIN

Disentangling the Role of the Tau Gene Locus in Sporadic Tauopathies

(2010) J. Vandrovcova et al.   Current Alzheimer Research

Vps35 Mediates Vesicle Transport between the Mitochondria and Peroxisomes

(2010) Emélie Braschi et al.   CURRENT BIOLOGY

Genome-wide association study confirms BST1 and suggests a locus on 12q24 as the risk loci for Parkinson's disease in the European population

(2010) M. Saad et al.   HUMAN MOLECULAR GENETICS

Dissection of the genetics of Parkinson's disease identifies an additional association 5' of SNCA and multiple associated haplotypes at 17q21

(2010) et al.   HUMAN MOLECULAR GENETICS

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

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

Chaperoning the SNAREs: a role in preventing neurodegeneration?

(2010) Robert D. Burgoyne et al.   NATURE CELL BIOLOGY

Common genetic variation in the HLA region is associated with late-onset sporadic Parkinson's disease

(2010) Taye H Hamza et al.   NATURE GENETICS

Synaptic dysfunction in genetic models of Parkinson's disease: A role for autophagy?

(2010) Edward D. Plowey et al.   NEUROBIOLOGY OF DISEASE

α-Synuclein Suppression by Targeted Small Interfering RNA in the Primate Substantia Nigra

(2010) Alison L. McCormack et al.   PLoS One

 -Synuclein Promotes SNARE-Complex Assembly in Vivo and in Vitro

(2010) J. Burre et al.   SCIENCE

Discoveries in neuroscience

(2009)   ANNALS OF NEUROLOGY

SNCAvariants are associated with increased risk for multiple system atrophy

(2009) Sonja W. Scholz et al.   ANNALS OF NEUROLOGY

The distinct cognitive syndromes of Parkinson's disease: 5 year follow-up of the CamPaIGN cohort

(2009) Caroline H. Williams-Gray et al.   BRAIN

Regulation of endosomal clathrin and retromer-mediated endosome to Golgi retrograde transport by the J-domain protein RME-8

(2009) Anbing Shi et al.   EMBO JOURNAL

DJ-1 and prevention of oxidative stress in Parkinson's disease and other age-related disorders

(2009) Philipp J. Kahle et al.   FREE RADICAL BIOLOGY AND MEDICINE

Expansion of the Parkinson disease-associated SNCA- Rep1 allele upregulates human α-synuclein in transgenic mouse brain

(2009) Kenneth D. Cronin et al.   HUMAN MOLECULAR GENETICS

Parkin and PINK1 mutations in early-onset Parkinson's disease: comprehensive screening in publicly available cases and control

(2009) J Brooks et al.   JOURNAL OF MEDICAL GENETICS

Single Nigrostriatal Dopaminergic Neurons Form Widely Spread and Highly Dense Axonal Arborizations in the Neostriatum

(2009) W. Matsuda et al.   JOURNAL OF NEUROSCIENCE

Alpha-synuclein polymorphisms are associated with Parkinson's disease in a Saskatchewan population

(2009) Alex Rajput et al.   MOVEMENT DISORDERS

Expanding the clinical phenotype of SNCA duplication carriers

(2009) Kenya Nishioka et al.   MOVEMENT DISORDERS

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

DCTN1 mutations in Perry syndrome

(2009) Matthew J Farrer et al.   NATURE GENETICS

Neuroinflammation in Parkinson's disease: Its role in neuronal death and implications for therapeutic intervention

(2009) Malú G. Tansey et al.   NEUROBIOLOGY OF DISEASE

Common Genetic Variation and Human Traits

(2009) David B. Goldstein   NEW ENGLAND JOURNAL OF MEDICINE

Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson's Disease

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

Genomic and personalized medicine: foundations and applications

(2009) Geoffrey S. Ginsburg et al.   Translational Research

Measures of Autozygosity in Decline: Globalization, Urbanization, and Its Implications for Medical Genetics

(2009) Michael A. Nalls et al.   PLoS Genetics

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

Genomic investigation of α-synuclein multiplication and parkinsonism

(2008) Owen A. Ross et al.   ANNALS OF NEUROLOGY

Retromer

(2008) Juan S Bonifacino et al.   CURRENT OPINION IN CELL BIOLOGY

G. H. Hardy (1908) and Hardy-Weinberg Equilibrium

(2008) A. W. F. Edwards   GENETICS

Genomewide association study for susceptibility genes contributing to familial Parkinson disease

(2008) Nathan Pankratz et al.   HUMAN GENETICS

In vivo silencing of alpha-synuclein using naked siRNA

(2008) Jada Lewis et al.   Molecular Neurodegeneration

The Sydney multicenter study of Parkinson's disease: The inevitability of dementia at 20 years

(2008) Mariese A. Hely et al.   MOVEMENT DISORDERS

Evolutionary toggling of the MAPT 17q21.31 inversion region

(2008) Michael C Zody et al.   NATURE GENETICS

PINK1 mutations and parkinsonism

(2008) L. Ishihara-Paul et al.   NEUROLOGY

FBXO7 mutations cause autosomal recessive, early-onset parkinsonian-pyramidal syndrome

(2008) A. D. Fonzo et al.   NEUROLOGY

Glucosidase-beta variations and Lewy body disorders

(2008) Matthew J. Farrer et al.   PARKINSONISM & RELATED DISORDERS

Ceramide Triggers Budding of Exosome Vesicles into Multivesicular Endosomes

(2008) K. Trajkovic et al.   SCIENCE