4.7 Article

Genetic analysis of Mendelian mutations in a large UK population-based Parkinson's disease study

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

Features of GBA-associated Parkinson's disease at presentation in the UK Tracking Parkinson's study

Naveed Malek et al.

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2018)

Editorial Material Multidisciplinary Sciences

LRRK2 kinase in Parkinson's disease

Dario R. Alessi et al.

SCIENCE (2018)

Article Clinical Neurology

Study of LRRK2 Variation in Tauopathy: Progressive Supranuclear Palsy and Corticobasal Degeneration

Monica Sanchez-Contreras et al.

MOVEMENT DISORDERS (2017)

Review Clinical Neurology

Neuropathology of Genetic Synucleinopathies With Parkinsonism: Review of the Literature

Susanne A. Schneider et al.

MOVEMENT DISORDERS (2017)

Article Clinical Neurology

Survival and dementia in GBA-associated Parkinson's disease: The mutation matters

Roberto Cilia et al.

ANNALS OF NEUROLOGY (2016)

Article Neurosciences

LRRK2 Kinase Inhibition as a Therapeutic Strategy for Parkinson's Disease, Where Do We Stand?

Jean-Marc Taymans et al.

CURRENT NEUROPHARMACOLOGY (2016)

Review Biochemistry & Molecular Biology

Genetics in Parkinson disease: Mendelian versus non-Mendelian inheritance

Dena G. Hernandez et al.

JOURNAL OF NEUROCHEMISTRY (2016)

Editorial Material Clinical Neurology

Launching the movement disorders society genetic mutation database (MDSGene)

Christina M. Lill et al.

MOVEMENT DISORDERS (2016)

Article Genetics & Heredity

Next-generation genotype imputation service and methods

Sayantan Das et al.

NATURE GENETICS (2016)

Article Geriatrics & Gerontology

Variants in GBA, SNCA, and MAPT influence Parkinson disease risk, age at onset, and progression

Albert A. Davis et al.

NEUROBIOLOGY OF AGING (2016)

Article Clinical Neurology

Cognitive Profile of LRRK2-Related Parkinson's Disease

Sindhu Srivatsal et al.

MOVEMENT DISORDERS (2015)

Article Multidisciplinary Sciences

A global reference for human genetic variation

David M. Altshuler et al.

NATURE (2015)

Article Neurosciences

Tracking Parkinson's: Study Design and Baseline Patient Data

Naveed Malek et al.

JOURNAL OF PARKINSONS DISEASE (2015)

Article Clinical Neurology

Genetic assessment of familial and early-onset Parkinson's disease in a Greek population

M. Bozi et al.

EUROPEAN JOURNAL OF NEUROLOGY (2014)

Review Clinical Neurology

Recent advances in Parkinson's disease genetics

Steven Lubbe et al.

JOURNAL OF NEUROLOGY (2014)

Article Clinical Neurology

Cognitive dysfunction in Parkinson's disease related to the R1441G mutation in LRRK2

A. Estanga et al.

PARKINSONISM & RELATED DISORDERS (2014)

Article Clinical Neurology

Cognitive and Motor Function in Long-Duration PARKIN-Associated Parkinson Disease

Roy N. Alcalay et al.

JAMA NEUROLOGY (2014)

Article Clinical Neurology

The Val158Met COMT polymorphism is a modifier of the age at onset in Parkinson's disease with a sexual dimorphism

Stephan Klebe et al.

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2013)

Review Clinical Neurology

Monogenic Parkinson's disease and parkinsonism: Clinical phenotypes and frequencies of known mutations

Andreas Puschmann

PARKINSONISM & RELATED DISORDERS (2013)

Article Clinical Neurology

Genetics of Parkinson's disease – state of the art, 2013

Vincenzo Bonifati

PARKINSONISM & RELATED DISORDERS (2013)

Article Clinical Neurology

Genetic bases and phenotypes of autosomal recessive Parkinson disease in a Turkish population

E. Lohmann et al.

EUROPEAN JOURNAL OF NEUROLOGY (2012)

Article Clinical Neurology

Cognitive dysfunction in Tunisian LRRK2 associated Parkinson's disease

Samia Ben Sassi et al.

PARKINSONISM & RELATED DISORDERS (2012)

Article Clinical Neurology

Role of Mendelian genes in “sporadic” Parkinson's disease

Suzanne Lesage et al.

PARKINSONISM & RELATED DISORDERS (2011)

Article

Predictors of Parkin Mutations in Early-Onset Parkinson Disease

Karen S. Marder et al.

ARCHIVES OF NEUROLOGY (2010)

Article

Frequency of Known Mutations in Early-Onset Parkinson Disease

Roy N. Alcalay et al.

ARCHIVES OF NEUROLOGY (2010)

Article Biochemistry & Molecular Biology

Parkinson's disease-related LRRK2 G2019S mutation results from independent mutational events in humans

Suzanne Lesage et al.

HUMAN MOLECULAR GENETICS (2010)

Article Clinical Neurology

Prevalence and age of onset of Parkinson's disease in Cardiff: a community based cross sectional study and meta-analysis

M. M. Wickremaratchi et al.

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2009)

Article Clinical Neurology

Expanding the Clinical Phenotype of SNCA Duplication Carriers

Kenya Nishioka et al.

MOVEMENT DISORDERS (2009)

Article Clinical Neurology

Genetic factors influencing age at onset in LRRK2-linked Parkinson disease

Yulia Golub et al.

PARKINSONISM & RELATED DISORDERS (2009)

Article Biochemistry & Molecular Biology

Founder mutation p.R1441C in the leucine-rich repeat kinase 2 gene in Belgian Parkinson's disease patients

Karen Nuytemans et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2008)

Article Clinical Neurology

The prevalence of the G2019S and R1441C/G/H mutations in LRRK2 in German patients with Parkinson's disease

J. C. Moeller et al.

EUROPEAN JOURNAL OF NEUROLOGY (2008)

Letter Clinical Neurology

α-synuclein gene duplication is present in sporadic Parkinson disease

N. Brueggemann et al.

NEUROLOGY (2008)

Article Clinical Neurology

Lrrk2 R1441C parkinsonism is clinically similar to sporadic Parkinson disease

K. Haugarvoll et al.

NEUROLOGY (2008)

Review Clinical Neurology

Deciphering the role of heterozygous mutations in genes associated with parkinsonism

Christine Klein et al.

LANCET NEUROLOGY (2007)

Article Clinical Neurology

Frequency of LRRK2 mutations in early- and late-onset Parkinson disease

L. N. Clark et al.

NEUROLOGY (2006)

Article Clinical Neurology

PINK1 mutations in sporadic early-onset Parkinson's disease

Eng-King Tan et al.

MOVEMENT DISORDERS (2006)

Article Clinical Neurology

Prevalence of the LRRK2 G2019S mutation in a UK community based idiopathic Parkinson's disease cohort

CH Williams-Gray et al.

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2006)

Letter Medicine, General & Internal

LRRK2 G2019S as a cause of Parkinson's disease in North African Arabs

S Lesage et al.

NEW ENGLAND JOURNAL OF MEDICINE (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)

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

LRRK2 mutations in Parkinson disease

M Farrer et al.

NEUROLOGY (2005)

Article Clinical Neurology

Tau haplotypes regulate transcription and are associated with Parkinson's disease

JBJ Kwok 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 Clinical Neurology

PINK1 mutations are associated with sporadic early-onset parkinsonism

EM Valente et al.

ANNALS OF NEUROLOGY (2004)

Article Clinical Neurology

Novel PINK1 mutations in early-onset parkinsonism

Y Hatano et al.

ANNALS OF NEUROLOGY (2004)

Article Clinical Neurology

Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease

E Rogaeva et al.

ARCHIVES OF NEUROLOGY (2004)

Article Multidisciplinary Sciences

α-synuclein locus triplication causes Parkinson's disease

AB Singleton et al.

SCIENCE (2003)

Letter Clinical Neurology

Frequency of parkin mutations in late-onset Parkinson's disease

C Klein et al.

ANNALS OF NEUROLOGY (2003)

Article Clinical Neurology

How much phenotypic variation can be attributed to parkin genotype?

E Lohmann et al.

ANNALS OF NEUROLOGY (2003)

Article Clinical Neurology

A new locus for Parkinson's disease (PARK8) maps to chromosome 12p11.2-q13.1

M Funayama et al.

ANNALS OF NEUROLOGY (2002)

Article Medicine, General & Internal

Association of single-nucleotide polymorphisms of the tau gene with late-onset Parkinson disease

ER Martin et al.

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2001)

Article Clinical Neurology

Lewy bodies and parkinsonism in families with parkin mutations

M Farrer et al.

ANNALS OF NEUROLOGY (2001)

Article Medicine, General & Internal

Association between early-onset Parkinson's disease and mutations in the parkin gene

CB Lücking et al.

NEW ENGLAND JOURNAL OF MEDICINE (2000)