Related references
Note: Only part of the references are listed.G51D α-Synuclein mutation causes a novel Parkinsonian-pyramidal syndrome
Suzanne Lesage et al.
ANNALS OF NEUROLOGY (2013)
Exosomes: vesicular carriers for intercellular communication in neurodegenerative disorders
Anja Schneider et al.
CELL AND TISSUE RESEARCH (2013)
Monomeric Synucleins Generate Membrane Curvature
Christopher H. Westphal et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2013)
Interplay of LRRK2 with chaperone-mediated autophagy
Samantha J. Orenstein et al.
NATURE NEUROSCIENCE (2013)
100 years of Lewy pathology
Michel Goedert et al.
NATURE REVIEWS NEUROLOGY (2013)
Whole exome sequencing of rare variants in EIF4G1 and VPS35 in Parkinson disease
Karen Nuytemans et al.
NEUROLOGY (2013)
A NOVEL α-SYNUCLEIN MISSENSE MUTATION IN PARKINSON DISEASE
Christos Proukakis et al.
NEUROLOGY (2013)
RAB7L1 Interacts with LRRK2 to Modify Intraneuronal Protein Sorting and Parkinson's Disease Risk
David A. MacLeod et al.
NEURON (2013)
Meta-analysis of Parkinson's Disease: Identification of a novel locus, RIT2
Nathan Pankratz et al.
ANNALS OF NEUROLOGY (2012)
Two Faces of the Same Coin: Benign Familial Infantile Seizures and Paroxysmal Kinesigenic Dyskinesia Caused by PRRT2 Mutations
Alexander Schmidt
ARCHIVES OF NEUROLOGY (2012)
Cellular effects of LRRK2 mutations
Mark R. Cookson
BIOCHEMICAL SOCIETY TRANSACTIONS (2012)
Primate segmental duplication creates novel promoters for the LRRC37 gene family within the 17q21.31 inversion polymorphism region
Cemalettin Bekpen et al.
GENOME RESEARCH (2012)
The role of large pedigrees in an era of high-throughput sequencing
Ellen M. Wijsman
HUMAN GENETICS (2012)
Deep sequencing of the LRRK2 gene in 14,002 individuals reveals evidence of purifying selection and independent origin of the p.Arg1628Pro mutation in Europe
Justin P. Rubio et al.
HUMAN MUTATION (2012)
The retromer complex - endosomal protein recycling and beyond
Matthew N. J. Seaman
JOURNAL OF CELL SCIENCE (2012)
A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants
Manu Sharma et al.
JOURNAL OF MEDICAL GENETICS (2012)
The link between the GBA gene and parkinsonism
Ellen Sidransky et al.
LANCET NEUROLOGY (2012)
Homozygous deletion of an 80 kb region comprising part of DNAJC6 and LEPR genes on chromosome 1P31.3 is associated with early onset obesity, mental retardation and epilepsy
Virginie Vauthier et al.
MOLECULAR GENETICS AND METABOLISM (2012)
VPS35 mutation in Japanese patients with typical Parkinson's disease
Maya Ando et al.
MOVEMENT DISORDERS (2012)
Association between Parkinson's disease and the HLA-DRB1 locus
Ismail Ahmed et al.
MOVEMENT DISORDERS (2012)
Diagnostic criteria for mild cognitive impairment in Parkinson's disease: Movement Disorder Society Task Force guidelines
Irene Litvan et al.
MOVEMENT DISORDERS (2012)
Molecular machines governing exocytosis of synaptic vesicles
Reinhard Jahn et al.
NATURE (2012)
Screening for VPS35 mutations in Parkinson's disease
Una-Marie Sheerin et al.
NEUROBIOLOGY OF AGING (2012)
Mutant GBA1 Expression and Synucleinopathy Risk: First Insights from Cellular and Mouse Models
S. Pablo Sardi et al.
NEURODEGENERATIVE DISEASES (2012)
Variants in eukaryotic translation initiation factor 4G1 in sporadic Parkinson's disease
Eva C. Schulte et al.
NEUROGENETICS (2012)
GBA mutations increase risk for Lewy body disease with and without Alzheimer disease pathology
Debby Tsuang et al.
NEUROLOGY (2012)
IDENTIFICATION OF VPS35 MUTATIONS REPLICATED IN FRENCH FAMILIES WITH PARKINSON DISEASE
S. Lesage et al.
NEUROLOGY (2012)
DISTINCT INITIAL SNARE CONFIGURATIONS UNDERLYING THE DIVERSITY OF EXOCYTOSIS
Haruo Kasai et al.
PHYSIOLOGICAL REVIEWS (2012)
LRRK2 I2020T mutation is associated with tau pathology
Sachiko Ujiie et al.
PARKINSONISM & RELATED DISORDERS (2012)
A Deleterious Mutation in DNAJC6 Encoding the Neuronal-Specific Clathrin-Uncoating Co-Chaperone Auxilin, Is Associated with Juvenile Parkinsonism
Simon Edvardson et al.
PLOS ONE (2012)
Pathological α-Synuclein Transmission Initiates Parkinson-like Neurodegeneration in Nontransgenic Mice
Kelvin C. Luk et al.
SCIENCE (2012)
Mitochondrial Quality Control Mediated by PINK1 and Parkin: Links to Parkinsonism
Derek Narendra et al.
COLD SPRING HARBOR PERSPECTIVES IN BIOLOGY (2012)
Disruption of Protein Quality Control in Parkinson's Disease
Casey Cook et al.
COLD SPRING HARBOR PERSPECTIVES IN MEDICINE (2012)
Comprehensive Research Synopsis and Systematic Meta-Analyses in Parkinson's Disease Genetics: The PDGene Database
Christina M. Lill et al.
PLOS GENETICS (2012)
The Use of Next-Generation Sequencing in Movement Disorders
Catharine E. Krebs et al.
Frontiers in Genetics (2012)
Neuropathology underlying clinical variability in patients with synucleinopathies
Glenda M. Halliday et al.
ACTA NEUROPATHOLOGICA (2011)
A Mutation in VPS35, Encoding a Subunit of the Retromer Complex, Causes Late-Onset Parkinson Disease
Alexander Zimprich et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2011)
Translation Initiator EIF4G1 Mutations in Familial Parkinson Disease
Marie-Christine Chartier-Harlin et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2011)
VPS35 Mutations in Parkinson Disease
Carles Vilarino-Gueell et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2011)
Genome-wide association study confirms extant PD risk loci among the Dutch
Javier Simon-Sanchez et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2011)
Genome-wide association study confirms BST1 and suggests a locus on 12q24 as the risk loci for Parkinson's disease in the European population
Mohamad Saad et al.
HUMAN MOLECULAR GENETICS (2011)
Dissection of the genetics of Parkinson's disease identifies an additional association 5′ of SNCA and multiple associated haplotypes at 17q21
Chris C. A. Spencer et al.
HUMAN MOLECULAR GENETICS (2011)
Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies
Michael A. Nalls et al.
LANCET (2011)
Association of LRRK2 exonic variants and susceptibility to Parkinson's disease: a case-control study (vol 10, pg 898, 2011)
O. A. Ross et al.
LANCET NEUROLOGY (2011)
Chaperoning the SNAREs: a role in preventing neurodegeneration?
Robert D. Burgoyne et al.
NATURE CELL BIOLOGY (2011)
Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy
Guenter U. Hoeglinger et al.
NATURE GENETICS (2011)
Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease
Adam C. Naj et al.
NATURE GENETICS (2011)
Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease
Paul Hollingworth et al.
NATURE GENETICS (2011)
Heritability of Parkinson disease in Swedish twins: a longitudinal study
Karin Wirdefeldt et al.
NEUROBIOLOGY OF AGING (2011)
Synaptic dysfunction in genetic models of Parkinson's disease: A role for autophagy?
Edward D. Plowey et al.
NEUROBIOLOGY OF DISEASE (2011)
Recruitment of Endophilin to Clathrin-Coated Pit Necks Is Required for Efficient Vesicle Uncoating after Fission
Ira Milosevic et al.
NEURON (2011)
Genome-Wide Gene-Environment Study Identifies Glutamate Receptor Gene GRIN2A as a Parkinson's Disease Modifier Gene via Interaction with Coffee
Taye H. Hamza et al.
PLOS GENETICS (2011)
Web-Based Genome-Wide Association Study Identifies Two Novel Loci and a Substantial Genetic Component for Parkinson's Disease
Chuong B. Do et al.
PLOS GENETICS (2011)
Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study
Owen A. Ross et al.
LANCET NEUROLOGY (2011)
Genome-Wide Association Study Confirms SNPs in SNCA and the MAPT Region as Common Risk Factors for Parkinson Disease
Todd L. Edwards et al.
ANNALS OF HUMAN GENETICS (2010)
Association of α-, β-, and γ-Synuclein With Diffuse Lewy Body Disease
Kenya Nishioka et al.
ARCHIVES OF NEUROLOGY (2010)
Quantification of alpha-synuclein in cerebrospinal fluid as a biomarker candidate: review of the literature and considerations for future studies
Brit Mollenhauer et al.
BIOMARKERS IN MEDICINE (2010)
PINK1-linked parkinsonism is associated with Lewy body pathology
Lluis Samaranch et al.
BRAIN (2010)
Disentangling the Role of the Tau Gene Locus in Sporadic Tauopathies
J. Vandrovcova et al.
CURRENT ALZHEIMER RESEARCH (2010)
Vps35 Mediates Vesicle Transport between the Mitochondria and Peroxisomes
Emelie Braschi et al.
CURRENT BIOLOGY (2010)
Novel Pathogenic LRRK2 p.Asn1437His Substitution in Familial Parkinson's Disease
Jan O. Aasly et al.
MOVEMENT DISORDERS (2010)
Common genetic variation in the HLA region is associated with late-onset sporadic Parkinson's disease
Taye H. Hamza et al.
NATURE GENETICS (2010)
Neuroinflammation in Parkinson's disease: Its role in neuronal death and implications for therapeutic intervention
Malu G. Tansey et al.
NEUROBIOLOGY OF DISEASE (2010)
α-Synuclein Suppression by Targeted Small Interfering RNA in the Primate Substantia Nigra
Alison L. McCormack et al.
PLOS ONE (2010)
α-Synuclein Promotes SNARE-Complex Assembly in Vivo and in Vitro
Jacqueline Burre et al.
SCIENCE (2010)
SNCA Variants Are Associated with Increased Risk for Multiple System Atrophy
Sonja W. Scholz et al.
ANNALS OF NEUROLOGY (2009)
The distinct cognitive syndromes of Parkinson's disease: 5 year follow-up of the CamPaIGN cohort
Caroline H. Williams-Gray et al.
BRAIN (2009)
Regulation of endosomal clathrin and retromer-mediated endosome to Golgi retrograde transport by the J-domain protein RME-8
Anbing Shi et al.
EMBO JOURNAL (2009)
DJ-1 and prevention of oxidative stress in Parkinson's disease and other age-related disorders
Philipp J. Kahle et al.
FREE RADICAL BIOLOGY AND MEDICINE (2009)
Genomewide association study for susceptibility genes contributing to familial Parkinson disease
Nathan Pankratz et al.
HUMAN GENETICS (2009)
Expansion of the Parkinson disease-associated SNCA-Rep1 allele upregulates human α-synuclein in transgenic mouse brain
Kenneth D. Cronin et al.
HUMAN MOLECULAR GENETICS (2009)
Parkin and PINK1 mutations in early-onset Parkinson's disease: comprehensive screening in publicly available cases and control
J. Brooks et al.
JOURNAL OF MEDICAL GENETICS (2009)
Single Nigrostriatal Dopaminergic Neurons Form Widely Spread and Highly Dense Axonal Arborizations in the Neostriatum
Wakoto Matsuda et al.
JOURNAL OF NEUROSCIENCE (2009)
Alpha-Synuclein Polymorphisms are Associated with Parkinson's Disease in a Saskatchewan Population
Alex Rajput et al.
MOVEMENT DISORDERS (2009)
Expanding the Clinical Phenotype of SNCA Duplication Carriers
Kenya Nishioka et al.
MOVEMENT DISORDERS (2009)
Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease
Wataru Satake et al.
NATURE GENETICS (2009)
Genome-wide association study reveals genetic risk underlying Parkinson's disease
Javier Simon-Sanchez et al.
NATURE GENETICS (2009)
DCTN1 mutations in Perry syndrome
Matthew J. Farrer et al.
NATURE GENETICS (2009)
FBXO7 mutations cause autosomal recessive, early-onset parkinsonian-pyramidal syndrome
A. Di Fonzo et al.
NEUROLOGY (2009)
Common Genetic Variation and Human Traits
David B. Goldstein
NEW ENGLAND JOURNAL OF MEDICINE (2009)
Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson's Disease
E. Sidransky et al.
NEW ENGLAND JOURNAL OF MEDICINE (2009)
Glucosidase-beta variations and Lewy body disorders
Matthew J. Farrer et al.
PARKINSONISM & RELATED DISORDERS (2009)
Genomic and personalized medicine: foundations and applications
Geoffrey S. Ginsburg et al.
TRANSLATIONAL RESEARCH (2009)
Measures of Autozygosity in Decline: Globalization, Urbanization, and Its Implications for Medical Genetics
Michael A. Nalls et al.
PLOS GENETICS (2009)
Genome-wide linkage analysis of a Parkinsonian-pyramidal syndrome pedigree by 500 KSNP arrays
Seyedmehdi Shojaee et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
Genomic investigation of α-synuclein multiplication and parkinsonism
Owen A. Ross et al.
ANNALS OF NEUROLOGY (2008)
G.H. Hardy (1908) and Hardy-Weinberg equilibrium
A. W. F. Edwards
GENETICS (2008)
In vivo silencing of alpha-synuclein using naked siRNA
Jada Lewis et al.
MOLECULAR NEURODEGENERATION (2008)
The Sydney multicenter study of Parkinson's disease: The inevitability of dementia at 20 years
Mariese A. Hely et al.
MOVEMENT DISORDERS (2008)
Evolutionary toggling of the MAPT 17q21.31 inversion region
Michael C. Zody et al.
NATURE GENETICS (2008)
PINK1 mutations and parkinsonism
L. Ishihara-Paul et al.
NEUROLOGY (2008)
Ceramide triggers budding of exosome vesicles into multivesicular Endosomes
Katarina Trajkovic et al.
SCIENCE (2008)
α-Synuclein and Parkinson disease susceptibility
S. Winkler et al.
NEUROLOGY (2007)
ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease
A. Di Fonzo et al.
NEUROLOGY (2007)
Phenotypic variation in a large Swedish pedigree due to SNCA duplication and triplication
J. Fuchs et al.
NEUROLOGY (2007)
Two sites in the MAPT region confer genetic risk for Guam ALS/PDC and dementia
Purnima Desai Sundar et al.
HUMAN MOLECULAR GENETICS (2007)
Lrrk2 G2385R is an ancestral risk factor for Parkinson's disease in Asia
Matthew J. Farrer et al.
PARKINSONISM & RELATED DISORDERS (2007)
Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase
Alfredo Ramirez et al.
NATURE GENETICS (2006)
Recruitment dynamics of GAK and auxilin to clathrin-coated pits during endocytosis
Dong-won Lee et al.
JOURNAL OF CELL SCIENCE (2006)
Collaborative analysis of alpha-synuclein gene promoter variability and Parkinson disease
Demetrius M. Maraganore et al.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2006)
A regulated interaction with the UIM protein Eps15 implicates parkin in EGF receptor trafficking and PI(3) K-Akt signalling
Lara Fallon et al.
NATURE CELL BIOLOGY (2006)
α-synuclein blocks ER-Golgi traffic and Rab1 rescues neuron loss in Parkinson's models
Antony A. Cooper et al.
SCIENCE (2006)
PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron
Neil V. Morgan et al.
NATURE GENETICS (2006)
Epidemiological, clinical, and genetic characteristics of early-onset parkinsonism
A Schrag et al.
LANCET NEUROLOGY (2006)
The Parkinson's complex: Parkinsonism is just the tip of the iceberg
JW Langston
ANNALS OF NEUROLOGY (2006)
Genetics of Parkinson disease: paradigm shifts and future prospects
MJ Farrer
NATURE REVIEWS GENETICS (2006)
LRRK2 G2019S as a cause of Parkinson's disease in Ashkenazi Jews
LJ Ozelius et al.
NEW ENGLAND JOURNAL OF MEDICINE (2006)
Atypical Parkinsonism and SCA8 - Reply
Yasuhiko Baba et al.
PARKINSONISM & RELATED DISORDERS (2006)
Epidemiology of Parkinson's disease
Lonneke M. L. de Lau et al.
LANCET NEUROLOGY (2006)
Lrrk2 pathogenic substitutions in Parkinson's disease
IF Mata et al.
NEUROGENETICS (2005)
Linkage disequilibrium fine mapping and haplotype association analysis of the tau gene in progressive supranuclear palsy and corticobasal degeneration
AM Pittman et al.
JOURNAL OF MEDICAL GENETICS (2005)
G2019S LRRK2 mutation in French and North African families with Parkinson's disease
S Lesage et al.
ANNALS OF NEUROLOGY (2005)
DJ-1 mutations and parkinsonism-dementia-amyotrophic lateral sclerosis complex
G Annesi et al.
ANNALS OF NEUROLOGY (2005)
Identification of a novel LRRK2 mutation linked to autosomal dominant parkinsonism:: Evidence of a common founder across European populations
J Kachergus et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2005)
Regulation of α-synuclein expression by poly (ADP ribose) polymerase-1 (PARP-1) binding to the NACP-Rep1 polymorphic site upstream of the SNCA gene
O Chiba-Falek et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2005)
Parkinsonism, FXTAS, and FMR1 premutations
M Toft et al.
MOVEMENT DISORDERS (2005)
The new mutation, E46K, of α-synuclein causes Parkinson and Lewy body dementia
JJ Zarranz et al.
ANNALS OF NEUROLOGY (2004)
Comparison of kindreds with parkinsonism and α-synuclein genomic multiplications
M Farrer et al.
ANNALS OF NEUROLOGY (2004)
α-synuclein locus duplication as a cause of familial Parkinson's disease
MC Chartier-Harlin et al.
LANCET (2004)
Causal relation between α-synuclein gene duplication and familial Parkinson's disease
P Ibáñez et al.
LANCET (2004)
Autophagy: Many paths to the same end
AM Cuervo
MOLECULAR AND CELLULAR BIOCHEMISTRY (2004)
Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease
C Paisán-Ruíz et al.
NEURON (2004)
Mutations in LRRK2 cause autosomal-dominant Parkinsonism with pleomorphic pathology
A Zimprich et al.
NEURON (2004)
Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews
J Aharon-Peretz et al.
NEW ENGLAND JOURNAL OF MEDICINE (2004)
EGFR mutations in lung cancer:: Correlation with clinical response to gefitinib therapy
JG Paez et al.
SCIENCE (2004)
Profile of families with parkinsonism-predominant spinocerebellar ataxia type 2 (SCA2)
S Furtado et al.
MOVEMENT DISORDERS (2004)
Hereditary early-onset Parkinson's disease caused by mutations in PINK1
EM Valente et al.
SCIENCE (2004)
Linkage disequilibrium and association of MAPT H1 in Parkinson disease
L Skipper et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2004)
α-synuclein promoter confers susceptibility to Parkinson's disease
P Pals et al.
ANNALS OF NEUROLOGY (2004)
α-synuclein locus triplication causes Parkinson's disease
AB Singleton et al.
SCIENCE (2003)
Functional analysis of intra-allelic variation at NACP-Rep1 in the α-synuclein gene
O Chiba-Falek et al.
HUMAN GENETICS (2003)
Mutant dynactin in motor neuron disease
I Puls et al.
NATURE GENETICS (2003)
Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism
V Bonifati et al.
SCIENCE (2003)
Lewy bodies and parkinsonism in families with parkin mutations
M Farrer et al.
ANNALS OF NEUROLOGY (2001)
α-synuclein gene haplotypes are associated with Parkinson's disease
M Farrer et al.
HUMAN MOLECULAR GENETICS (2001)
Pathology of PD in monozygotic twins with a 20-year discordance interval
D Dickson et al.
NEUROLOGY (2001)
Clinical and pathologic abnormalities in a family with parkinsonism and parkin gene mutations
BPC van de Warrenburg et al.
NEUROLOGY (2001)
Spinocerebellar ataxia type 3 phenotypically resembling Parkinson disease in a black family
K Gwinn-Hardy et al.
ARCHIVES OF NEUROLOGY (2001)
Dopaminergic loss and inclusion body formation in α-synuclein mice:: Implications for neurodegenerative disorders
E Masliah et al.
SCIENCE (2000)