Genotype-phenotype correlation of Parkinson's disease with PRKN variants

Characterization of recessive Parkinson's disease in a large multicenter study

(2020) Suzanne Lesage et al.   ANNALS OF NEUROLOGY

Clinical characterization of patients with leucine-rich repeat kinase 2 genetic variants in Japan

(2020) Yuanzhe Li et al.   JOURNAL OF HUMAN GENETICS

The role of genetics in Parkinson’s disease: a large cohort study in Chinese mainland population

(2020) Yuwen Zhao et al.   BRAIN

The identified clinical features of Parkinson's disease in homo-, heterozygous and digenic variants of PINK1

(2020) Arisa Hayashida et al.   NEUROBIOLOGY OF AGING

PLA2G6 variants associated with the number of affected alleles in Parkinson’s disease in Japan

(2020) Kensuke Daida et al.   NEUROBIOLOGY OF AGING

Analysis of Heterozygous PRKN Variants and Copy‐Number Variations in Parkinson's Disease

(2020) Eric Yu et al.   MOVEMENT DISORDERS

A clinical and genetic study of early-onset and familial parkinsonism in taiwan: An integrated approach combining gene dosage analysis and next-generation sequencing

(2019) Chin-Hsien Lin et al.   MOVEMENT DISORDERS

Mutation analysis of LRP10 in Japanese patients with familial Parkinson's disease, progressive supranuclear palsy, and frontotemporal dementia

(2019) Kensuke Daida et al.   NEUROBIOLOGY OF AGING

The genetics of Parkinson disease

(2018) Hao Deng et al.   AGEING RESEARCH REVIEWS

Genotype-Phenotype Relations for the Parkinson's Disease Genes Parkin , PINK1 , DJ1: MDSGene Systematic Review

(2018) Meike Kasten et al.   MOVEMENT DISORDERS

Genetic analysis of TMEM230 in Japanese patients with familial Parkinson's disease

(2018) Silvio A. Conedera et al.   PARKINSONISM & RELATED DISORDERS

Combined use of dopamine transporter imaging (DAT-SPECT) and 123 I-metaiodobenzylguanidine (MIBG) myocardial scintigraphy for diagnosing Parkinson's disease

(2017) Fumihito Yoshii et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Neuropathology of genetic synucleinopathies with parkinsonism: Review of the literature

(2017) Susanne A. Schneider et al.   MOVEMENT DISORDERS

jMorp: Japanese Multi Omics Reference Panel

(2017) Shu Tadaka et al.   NUCLEIC ACIDS RESEARCH

Heterozygous PINK1 p.G411S increases risk of Parkinson’s disease via a dominant-negative mechanism

(2016) Andreas Puschmann et al.   BRAIN

Human genetic variation database, a reference database of genetic variations in the Japanese population

(2016) Koichiro Higasa et al.   JOURNAL OF HUMAN GENETICS

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

FBXO7 mutations in Parkinson's disease and multiple system atrophy

(2016) Silvio Conedera et al.   NEUROBIOLOGY OF AGING

PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels

(2015) Yongwook Choi et al.   BIOINFORMATICS

Myocardial 123I-metaiodobenzylguanidine scintigraphy in patients with homozygous and heterozygous parkin mutations

(2015) Anna De Rosa et al.   JOURNAL OF NUCLEAR CARDIOLOGY

MDS clinical diagnostic criteria for Parkinson's disease

(2015) Ronald B. Postuma et al.   MOVEMENT DISORDERS

The Roles of PINK1, Parkin, and Mitochondrial Fidelity in Parkinson’s Disease

(2015) Alicia M. Pickrell et al.   NEURON

Parkinson’s disease in GTP cyclohydrolase 1 mutation carriers

(2014) Niccolò E. Mencacci et al.   BRAIN

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

Parkinson's disease with Lewy bodies associated with a heterozygousPARKINdosage mutation

(2013) Madeleine E. Sharp et al.   MOVEMENT DISORDERS

Lewy body pathology and typical Parkinson disease in a patient with a heterozygous (R275W) mutation in the Parkin gene (PARK2)

(2012) Claudio Ruffmann et al.   ACTA NEUROPATHOLOGICA

123I-MIBG myocardial scintigraphy for differentiating Parkinson’s disease from other neurodegenerative parkinsonism: A systematic review and meta-analysis

(2012) Satoshi Orimo et al.   PARKINSONISM & RELATED DISORDERS

What Genetics Tells us About the Causes and Mechanisms of Parkinson's Disease

(2011) Olga Corti et al.   PHYSIOLOGICAL REVIEWS

PINK1 stabilized by mitochondrial depolarization recruits Parkin to damaged mitochondria and activates latent Parkin for mitophagy

(2010) Noriyuki Matsuda et al.   JOURNAL OF CELL BIOLOGY

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia

(2009) F. Clot et al.   BRAIN

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Frequency of heterozygous Parkin mutations in healthy subjects: Need for careful prospective follow-up examination of mutation carriers

(2009) Norbert Brüggemann et al.   PARKINSONISM & RELATED DISORDERS

Characterization of PLA2G6 as a locus for dystonia-parkinsonism

(2008) Coro Paisan-Ruiz et al.   ANNALS OF NEUROLOGY

Risk of Parkinson Disease in Carriers of Parkin Mutations

(2008) Yuanjia Wang et al.   ARCHIVES OF NEUROLOGY

Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study

(2008) Daniel G Healy et al.   LANCET NEUROLOGY

Familial Parkinsonism with digenicparkinandPINK1mutations

(2008) Manabu Funayama et al.   MOVEMENT DISORDERS

Myocardial123metaiodobenzylguanidine uptake in genetic Parkinson's disease

(2007) Aldo Quattrone et al.   MOVEMENT DISORDERS