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。The genetic architecture of Parkinson's disease
Cornelis Blauwendraat et al.
LANCET NEUROLOGY (2020)
Long-read sequencing identified intronic repeat expansions in SAMD12 from Chinese pedigrees affected with familial cortical myoclonic tremor with epilepsy
Sheng Zeng et al.
JOURNAL OF MEDICAL GENETICS (2019)
Common and rare GCH1 variants are associated with Parkinson's disease
Uladzislau Rudakou et al.
NEUROBIOLOGY OF AGING (2019)
Parkinson's disease age at onset genome-wide association study: Defining heritability, genetic loci, and α-synuclein mechanisms
Cornelis Blauwendraat et al.
MOVEMENT DISORDERS (2019)
The interplay of aging, genetics and environmental factors in the pathogenesis of Parkinson's disease
Shirley Yin-Yu Pang et al.
TRANSLATIONAL NEURODEGENERATION (2019)
Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies
Mike A. Nalls et al.
LANCET NEUROLOGY (2019)
VarCards: an integrated genetic and clinical database for coding variants in the human genome
Jinchen Li et al.
NUCLEIC ACIDS RESEARCH (2018)
Enhancers: bridging the gap between gene control and human disease
Jaret M. Karnuta et al.
HUMAN MOLECULAR GENETICS (2018)
GCH1 mutations in dopa-responsive dystonia and Parkinson's disease
Hiroyo Yoshino et al.
JOURNAL OF NEUROLOGY (2018)
Genotype-Phenotype Relations for the Parkinson's Disease Genes Parkin, PINK1, DJ1: MDSGene Systematic Review
Meike Kasten et al.
MOVEMENT DISORDERS (2018)
Performance evaluation of pathogenicity-computation methods for missense variants
Jinchen Li et al.
NUCLEIC ACIDS RESEARCH (2018)
Clinical characteristics of PD patients with LRRK2 G2385R and R1628P variants
Dongxiao Liang et al.
NEUROSCIENCE LETTERS (2018)
Coding mutations in NUS1 contribute to Parkinson's disease
Ji-feng Guo et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2018)
A meta-analysis of genome-wide association studies identifies 17 new Parkinson's disease risk loci
Diana Chang et al.
NATURE GENETICS (2017)
GCH1 mutations are common in Serbian patients with dystonia-parkinsonism: Challenging previously reported prevalence rates of DOPA-responsive dystonia
Valerija Dobricic et al.
PARKINSONISM & RELATED DISORDERS (2017)
GeneHancer: genome-wide integration of enhancers and target genes in GeneCards
Simon Fishilevich et al.
DATABASE-THE JOURNAL OF BIOLOGICAL DATABASES AND CURATION (2017)
Parkinson disease
Werner Poewe et al.
NATURE REVIEWS DISEASE PRIMERS (2017)
The role of gene variants in the pathogenesis of neurodegenerative disorders as revealed by next generation sequencing studies: a review
Shirley Yin-Yu Pang et al.
TRANSLATIONAL NEURODEGENERATION (2017)
The epidemiology of Parkinson's disease: risk factors and prevention
Alberto Ascherio et al.
LANCET NEUROLOGY (2016)
Launching the movement disorders society genetic mutation database (MDSGene)
Christina M. Lill et al.
MOVEMENT DISORDERS (2016)
Variants in GBA, SNCA, and MAPT influence Parkinson disease risk, age at onset, and progression
Albert A. Davis et al.
NEUROBIOLOGY OF AGING (2016)
Low frequency of GCH1 and TH mutations in Parkinson's disease
Aina Rengmark et al.
PARKINSONISM & RELATED DISORDERS (2016)
MDS clinical diagnostic criteria for Parkinson's disease
Ronald B. Postuma et al.
MOVEMENT DISORDERS (2015)
Genomic variant annotation and prioritization with ANNOVAR and wANNOVAR
Hui Yang et al.
NATURE PROTOCOLS (2015)
Novel GCH1 variant in Dopa-responsive dystonia and Parkinson's disease
A. J. Lewthwaite et al.
PARKINSONISM & RELATED DISORDERS (2015)
Second-generation PLINK: rising to the challenge of larger and richer datasets
Christopher C. Chang et al.
GIGASCIENCE (2015)
Parkinsonism in GTP cyclohydrolase 1 mutation carriers
Ilaria Guella et al.
BRAIN (2015)
Parkinson's disease in GTP cyclohydrolase 1 mutation carriers
Niccolo E. Mencacci et al.
BRAIN (2014)
Clinical Spectrum of Dopa-Responsive Dystonia and Related Disorders
Woong-Woo Lee et al.
CURRENT NEUROLOGY AND NEUROSCIENCE REPORTS (2014)
Sequence Kernel Association Tests for the Combined Effect of Rare and Common Variants
Iuliana Ionita-Laza et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2013)
The Genotype-Tissue Expression (GTEx) project
John Lonsdale et al.
NATURE GENETICS (2013)
Optimal tests for rare variant effects in sequencing association studies
Seunggeun Lee et al.
BIOSTATISTICS (2012)
Critical evaluation of the Newcastle-Ottawa scale for the assessment of the quality of nonrandomized studies in meta-analyses
Andreas Stang
EUROPEAN JOURNAL OF EPIDEMIOLOGY (2010)
The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
Aaron McKenna et al.
GENOME RESEARCH (2010)
Four Novel Mutations in the GCH1 Gene of Chinese Patients with Dopa-Responsive Dystonia
Li Cao et al.
MOVEMENT DISORDERS (2010)
Fast and accurate short read alignment with Burrows-Wheeler transform
Heng Li et al.
BIOINFORMATICS (2009)
Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia
Fabienne Clot et al.
BRAIN (2009)
UCSC genome browser tutorial
Ann S. Zweig et al.
GENOMICS (2008)
Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase
Beat Thoeny et al.
HUMAN MUTATION (2006)
Changes in motor subtype and risk for incident dementia in Parkinson's disease
Guido Alves et al.
MOVEMENT DISORDERS (2006)
Parkin disease: a phenotypic study of a large case series
NL Khan et al.
BRAIN (2003)
Autosomal dominant guanosine triphosphate cyclohydrolase I deficiency (Segawa disease)
M Segawa et al.
ANNALS OF NEUROLOGY (2003)
Macular microcirculation characteristics in Parkinson's disease evaluated by OCT-Angiography: a literature review
Evita Evangelia Christou et al.
SEMINARS IN OPHTHALMOLOGY