4.6 Review

Advances in the genetics of Parkinson disease

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Article Clinical Neurology

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

Suzanne Lesage et al.

ANNALS OF NEUROLOGY (2013)

Review Cell Biology

Exosomes: vesicular carriers for intercellular communication in neurodegenerative disorders

Anja Schneider et al.

CELL AND TISSUE RESEARCH (2013)

Article Biochemistry & Molecular Biology

Monomeric Synucleins Generate Membrane Curvature

Christopher H. Westphal et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2013)

Article Neurosciences

Interplay of LRRK2 with chaperone-mediated autophagy

Samantha J. Orenstein et al.

NATURE NEUROSCIENCE (2013)

Review Clinical Neurology

100 years of Lewy pathology

Michel Goedert et al.

NATURE REVIEWS NEUROLOGY (2013)

Article Clinical Neurology

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

Karen Nuytemans et al.

NEUROLOGY (2013)

Editorial Material Clinical Neurology

A NOVEL α-SYNUCLEIN MISSENSE MUTATION IN PARKINSON DISEASE

Christos Proukakis et al.

NEUROLOGY (2013)

Article Clinical Neurology

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

Nathan Pankratz et al.

ANNALS OF NEUROLOGY (2012)

Article Biochemistry & Molecular Biology

Cellular effects of LRRK2 mutations

Mark R. Cookson

BIOCHEMICAL SOCIETY TRANSACTIONS (2012)

Review Genetics & Heredity

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

Ellen M. Wijsman

HUMAN GENETICS (2012)

Article Cell Biology

The retromer complex - endosomal protein recycling and beyond

Matthew N. J. Seaman

JOURNAL OF CELL SCIENCE (2012)

Review Clinical Neurology

The link between the GBA gene and parkinsonism

Ellen Sidransky et al.

LANCET NEUROLOGY (2012)

Article Clinical Neurology

VPS35 mutation in Japanese patients with typical Parkinson's disease

Maya Ando et al.

MOVEMENT DISORDERS (2012)

Article Clinical Neurology

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

Ismail Ahmed et al.

MOVEMENT DISORDERS (2012)

Review Multidisciplinary Sciences

Molecular machines governing exocytosis of synaptic vesicles

Reinhard Jahn et al.

NATURE (2012)

Article Geriatrics & Gerontology

Screening for VPS35 mutations in Parkinson's disease

Una-Marie Sheerin et al.

NEUROBIOLOGY OF AGING (2012)

Article Clinical Neurology

Mutant GBA1 Expression and Synucleinopathy Risk: First Insights from Cellular and Mouse Models

S. Pablo Sardi et al.

NEURODEGENERATIVE DISEASES (2012)

Article Genetics & Heredity

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

Eva C. Schulte et al.

NEUROGENETICS (2012)

Editorial Material Clinical Neurology

IDENTIFICATION OF VPS35 MUTATIONS REPLICATED IN FRENCH FAMILIES WITH PARKINSON DISEASE

S. Lesage et al.

NEUROLOGY (2012)

Review Physiology

DISTINCT INITIAL SNARE CONFIGURATIONS UNDERLYING THE DIVERSITY OF EXOCYTOSIS

Haruo Kasai et al.

PHYSIOLOGICAL REVIEWS (2012)

Article Clinical Neurology

LRRK2 I2020T mutation is associated with tau pathology

Sachiko Ujiie et al.

PARKINSONISM & RELATED DISORDERS (2012)

Article Cell Biology

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

Derek Narendra et al.

COLD SPRING HARBOR PERSPECTIVES IN BIOLOGY (2012)

Article Medicine, Research & Experimental

Disruption of Protein Quality Control in Parkinson's Disease

Casey Cook et al.

COLD SPRING HARBOR PERSPECTIVES IN MEDICINE (2012)

Article Genetics & Heredity

The Use of Next-Generation Sequencing in Movement Disorders

Catharine E. Krebs et al.

Frontiers in Genetics (2012)

Review Clinical Neurology

Neuropathology underlying clinical variability in patients with synucleinopathies

Glenda M. Halliday et al.

ACTA NEUROPATHOLOGICA (2011)

Article Genetics & Heredity

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)

Article Genetics & Heredity

Translation Initiator EIF4G1 Mutations in Familial Parkinson Disease

Marie-Christine Chartier-Harlin et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2011)

Article Genetics & Heredity

VPS35 Mutations in Parkinson Disease

Carles Vilarino-Gueell et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2011)

Article Biochemistry & Molecular Biology

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

Javier Simon-Sanchez et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2011)

Editorial Material Cell Biology

Chaperoning the SNAREs: a role in preventing neurodegeneration?

Robert D. Burgoyne et al.

NATURE CELL BIOLOGY (2011)

Article Genetics & Heredity

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

Guenter U. Hoeglinger et al.

NATURE GENETICS (2011)

Article Geriatrics & Gerontology

Heritability of Parkinson disease in Swedish twins: a longitudinal study

Karin Wirdefeldt et al.

NEUROBIOLOGY OF AGING (2011)

Review Neurosciences

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

Edward D. Plowey et al.

NEUROBIOLOGY OF DISEASE (2011)

Review Cell Biology

Recent Advances in Retromer Biology

Ian J. McGough et al.

TRAFFIC (2011)

Article Clinical Neurology

PINK1-linked parkinsonism is associated with Lewy body pathology

Lluis Samaranch et al.

Article Clinical Neurology

Disentangling the Role of the Tau Gene Locus in Sporadic Tauopathies

J. Vandrovcova et al.

CURRENT ALZHEIMER RESEARCH (2010)

Article Biochemistry & Molecular Biology

Vps35 Mediates Vesicle Transport between the Mitochondria and Peroxisomes

Emelie Braschi et al.

CURRENT BIOLOGY (2010)

Article Clinical Neurology

Novel Pathogenic LRRK2 p.Asn1437His Substitution in Familial Parkinson's Disease

Jan O. Aasly et al.

MOVEMENT DISORDERS (2010)

Article Multidisciplinary Sciences

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

Alison L. McCormack et al.

PLOS ONE (2010)

Article Multidisciplinary Sciences

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

Jacqueline Burre et al.

SCIENCE (2010)

Article Clinical Neurology

Discoveries in neuroscience

ANNALS OF NEUROLOGY (2009)

Article Clinical Neurology

SNCA Variants Are Associated with Increased Risk for Multiple System Atrophy

Sonja W. Scholz et al.

ANNALS OF NEUROLOGY (2009)

Review Biochemistry & Molecular Biology

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)

Article Biochemistry & Molecular Biology

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)

Article Clinical Neurology

Expanding the Clinical Phenotype of SNCA Duplication Carriers

Kenya Nishioka et al.

MOVEMENT DISORDERS (2009)

Article Genetics & Heredity

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

Javier Simon-Sanchez et al.

NATURE GENETICS (2009)

Article Genetics & Heredity

DCTN1 mutations in Perry syndrome

Matthew J. Farrer et al.

NATURE GENETICS (2009)

Editorial Material Medicine, General & Internal

Common Genetic Variation and Human Traits

David B. Goldstein

NEW ENGLAND JOURNAL OF MEDICINE (2009)

Article Medicine, General & Internal

Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson's Disease

E. Sidransky et al.

NEW ENGLAND JOURNAL OF MEDICINE (2009)

Article Clinical Neurology

Glucosidase-beta variations and Lewy body disorders

Matthew J. Farrer et al.

PARKINSONISM & RELATED DISORDERS (2009)

Review Medical Laboratory Technology

Genomic and personalized medicine: foundations and applications

Geoffrey S. Ginsburg et al.

TRANSLATIONAL RESEARCH (2009)

Article Genetics & Heredity

Genome-wide linkage analysis of a Parkinsonian-pyramidal syndrome pedigree by 500 KSNP arrays

Seyedmehdi Shojaee et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2008)

Article Clinical Neurology

Genomic investigation of α-synuclein multiplication and parkinsonism

Owen A. Ross et al.

ANNALS OF NEUROLOGY (2008)

Article Cell Biology

Retromer

Juan S. Bonifacino et al.

CURRENT OPINION IN CELL BIOLOGY (2008)

Editorial Material Genetics & Heredity

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

A. W. F. Edwards

GENETICS (2008)

Article Neurosciences

In vivo silencing of alpha-synuclein using naked siRNA

Jada Lewis et al.

MOLECULAR NEURODEGENERATION (2008)

Article Clinical Neurology

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

Mariese A. Hely et al.

MOVEMENT DISORDERS (2008)

Article Genetics & Heredity

Evolutionary toggling of the MAPT 17q21.31 inversion region

Michael C. Zody et al.

NATURE GENETICS (2008)

Article Clinical Neurology

PINK1 mutations and parkinsonism

L. Ishihara-Paul et al.

NEUROLOGY (2008)

Article Multidisciplinary Sciences

Ceramide triggers budding of exosome vesicles into multivesicular Endosomes

Katarina Trajkovic et al.

SCIENCE (2008)

Article Clinical Neurology

α-Synuclein and Parkinson disease susceptibility

S. Winkler et al.

NEUROLOGY (2007)

Article Biochemistry & Molecular Biology

Two sites in the MAPT region confer genetic risk for Guam ALS/PDC and dementia

Purnima Desai Sundar et al.

HUMAN MOLECULAR GENETICS (2007)

Article Clinical Neurology

Lrrk2 G2385R is an ancestral risk factor for Parkinson's disease in Asia

Matthew J. Farrer et al.

PARKINSONISM & RELATED DISORDERS (2007)

Article Cell Biology

Recruitment dynamics of GAK and auxilin to clathrin-coated pits during endocytosis

Dong-won Lee et al.

JOURNAL OF CELL SCIENCE (2006)

Article Medicine, General & Internal

Collaborative analysis of alpha-synuclein gene promoter variability and Parkinson disease

Demetrius M. Maraganore et al.

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2006)

Article Multidisciplinary Sciences

α-synuclein blocks ER-Golgi traffic and Rab1 rescues neuron loss in Parkinson's models

Antony A. Cooper et al.

SCIENCE (2006)

Article Clinical Neurology

The Parkinson's complex: Parkinsonism is just the tip of the iceberg

JW Langston

ANNALS OF NEUROLOGY (2006)

Review Genetics & Heredity

Genetics of Parkinson disease: paradigm shifts and future prospects

MJ Farrer

NATURE REVIEWS GENETICS (2006)

Article Clinical Neurology

Lrrk2 and Lewy body disease

OA Ross et al.

ANNALS OF NEUROLOGY (2006)

Letter Medicine, General & Internal

LRRK2 G2019S as a cause of Parkinson's disease in Ashkenazi Jews

LJ Ozelius et al.

NEW ENGLAND JOURNAL OF MEDICINE (2006)

Letter Clinical Neurology

Atypical Parkinsonism and SCA8 - Reply

Yasuhiko Baba et al.

PARKINSONISM & RELATED DISORDERS (2006)

Review Clinical Neurology

Epidemiology of Parkinson's disease

Lonneke M. L. de Lau et al.

LANCET NEUROLOGY (2006)

Article Genetics & Heredity

Lrrk2 pathogenic substitutions in Parkinson's disease

IF Mata et al.

NEUROGENETICS (2005)

Article Clinical Neurology

G2019S LRRK2 mutation in French and North African families with Parkinson's disease

S Lesage et al.

ANNALS OF NEUROLOGY (2005)

Article Clinical Neurology

DJ-1 mutations and parkinsonism-dementia-amyotrophic lateral sclerosis complex

G Annesi et al.

ANNALS OF NEUROLOGY (2005)

Article Clinical Neurology

Parkinsonism, FXTAS, and FMR1 premutations

M Toft et al.

MOVEMENT DISORDERS (2005)

Review Cell Biology

Recycle your receptors with retromer

MNJ Seaman

TRENDS IN CELL BIOLOGY (2005)

Article Clinical Neurology

The new mutation, E46K, of α-synuclein causes Parkinson and Lewy body dementia

JJ Zarranz et al.

ANNALS OF NEUROLOGY (2004)

Article Clinical Neurology

Comparison of kindreds with parkinsonism and α-synuclein genomic multiplications

M Farrer et al.

ANNALS OF NEUROLOGY (2004)

Article Medicine, General & Internal

α-synuclein locus duplication as a cause of familial Parkinson's disease

MC Chartier-Harlin et al.

LANCET (2004)

Article Cell Biology

Autophagy: Many paths to the same end

AM Cuervo

MOLECULAR AND CELLULAR BIOCHEMISTRY (2004)

Article Medicine, General & Internal

Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews

J Aharon-Peretz et al.

NEW ENGLAND JOURNAL OF MEDICINE (2004)

Article Multidisciplinary Sciences

Hereditary early-onset Parkinson's disease caused by mutations in PINK1

EM Valente et al.

SCIENCE (2004)

Article Genetics & Heredity

Linkage disequilibrium and association of MAPT H1 in Parkinson disease

L Skipper et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2004)

Article Clinical Neurology

α-synuclein promoter confers susceptibility to Parkinson's disease

P Pals et al.

ANNALS OF NEUROLOGY (2004)

Article Multidisciplinary Sciences

α-synuclein locus triplication causes Parkinson's disease

AB Singleton et al.

SCIENCE (2003)

Article Genetics & Heredity

Functional analysis of intra-allelic variation at NACP-Rep1 in the α-synuclein gene

O Chiba-Falek et al.

HUMAN GENETICS (2003)

Article Genetics & Heredity

Mutant dynactin in motor neuron disease

I Puls et al.

NATURE GENETICS (2003)

Article Clinical Neurology

Lewy bodies and parkinsonism in families with parkin mutations

M Farrer et al.

ANNALS OF NEUROLOGY (2001)

Article Biochemistry & Molecular Biology

α-synuclein gene haplotypes are associated with Parkinson's disease

M Farrer et al.

HUMAN MOLECULAR GENETICS (2001)

Article Clinical Neurology

Pathology of PD in monozygotic twins with a 20-year discordance interval

D Dickson et al.

NEUROLOGY (2001)

Article Clinical Neurology

Spinocerebellar ataxia type 3 phenotypically resembling Parkinson disease in a black family

K Gwinn-Hardy et al.

ARCHIVES OF NEUROLOGY (2001)