Associated Papers
Genetic profiles of multiple system atrophy revealed by exome sequencing, long-read sequencing and spinocerebellar ataxia repeat expansion analysis.
Li XY et al.
European Journal of Neurology, 2024
A mutational atlas for Parkin proteostasis.
Clausen L et al.
Nature Communications, 2024
38378758 (PubMed )
Supplement: 41467_2024_45829_MOESM1_ESM.pdf
Long-Read Sequencing Resolves a Complex Structural Variant in PRKN Parkinson's Disease.
Daida K et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2023
Long-read sequencing resolves a complex structural variant in PRKN Parkinson's disease.
Daida K et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Analysis of dementia-related gene variants in APOE ε4 noncarrying Korean patients with early-onset Alzheimer's disease.
Park JE et al.
Neurobiology of Aging, 2020
Genetic variants of PARK genes in Korean patients with early-onset Parkinson's disease.
Youn J et al.
Neurobiology of Aging, 2019
Novel Compound Heterozygous PRKN Variants in a Han-Chinese Family with Early-Onset Parkinson's Disease.
Fan K et al.
Parkinson's Disease, 2019
Structural and Functional Impact of Parkinson Disease-Associated Mutations in the E3 Ubiquitin Ligase Parkin.
Fiesel FC et al.
Human Mutation, 2015
Mutations in PRKN and SNCA Genes Important for the Progress of Parkinson's Disease.
Oczkowska A et al.
Current Genomics, 2013
Phase analysis identifies compound heterozygous deletions of the PARK2 gene in patients with early-onset Parkinson disease.
Kim SY et al.
Clinical Genetics, 2012
Contribution of germline mutations to PARK2 gene inactivation in lung adenocarcinoma.
Iwakawa R et al.
Genes, Chromosomes & Cancer, 2012
Phenotype analysis in patients with early onset Parkinson's disease with and without parkin mutations.
Kim HJ et al.
Journal of Neurology, 2011
Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update.
Nuytemans K et al.
Human Mutation, 2010
20506312 (PubMed )
Supplement: humu0031-0763-SD1.pdf
Early-onset dementia with Lewy bodies.
Takao M et al.
Brain Pathology (zurich, Switzerland), 2004
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