Associated Papers
Population-Specific Differences in Pathogenic Variants of Genes Associated with Monogenic Parkinson's Disease.
Flores-Ocampo V et al.
Genes, 2025
Targeting mitophagy in neurodegenerative diseases.
Antico O et al.
Nature Reviews. Drug Discovery, 2025
Rethinking 'rare' PINK1 Parkinson's disease: A meta-analysis of geographical prevalence, phenotypic diversity, and α-synuclein pathology.
Yin EP et al.
Journal of Parkinson's Disease, 2025
Retrospective chart review of inherited and idiopathic dystonia.
Alakkas A et al.
Frontiers in Genetics, 2025
Parkinson's Disease Pathogenic Variants: Cross-Ancestry Analysis and Microarray Data Validation.
Hong S et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Clinico-Genetic Profiles of Seven Patients With PINK1-Related Parkinson's Disease: A Case Series From a Tertiary Care Centre in India and a Review of the Literature.
Gunasekaran A et al.
Journal of Movement Disorders, 2024
Relevance of genetic testing in the gene-targeted trial era: the Rostock Parkinson's disease study.
Westenberger A et al.
Brain : a Journal of Neurology, 2024
Multiple Germline Events Contribute to Cancer Development in Patients with Li-Fraumeni Syndrome.
Subasri V et al.
Cancer Research Communications, 2023
Levodopa-induced dyskinesia in early-onset Parkinson's disease (EOPD) associates with glucocerebrosidase mutation: A next-generation sequencing study in EOPD patients in Thailand.
Thanprasertsuk S et al.
Plos One, 2023
Multi-omics analysis identifies osteosarcoma subtypes with distinct prognosis indicating stratified treatment.
Jiang Y et al.
Nature Communications, 2022
The mutation spectrum of Parkinson-disease-related genes in early-onset Parkinson's disease in ethnic Chinese.
Chen YP et al.
European Journal of Neurology, 2022
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
PINK1 kinase dysfunction triggers neurodegeneration in the primate brain without impacting mitochondrial homeostasis.
Yang W et al.
Protein & Cell, 2022
Identification of BAG5 as a Potential Biomarker for Parkinson's Disease Patients With R492X PINK1 Mutation.
Fu Y et al.
Frontiers in Neuroscience, 2022
Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.
Jia X et al.
Molecular Psychiatry, 2021
A compound heterozygous PINK1-associated juvenile Parkinson's disease with pregnancy in Chinese.
Li JY et al.
Journal of Neurology, 2021
Dysfunction of Synaptic Vesicle Endocytosis in Parkinson's Disease.
Zou L et al.
Frontiers in Integrative Neuroscience, 2021
Rare Variants Analysis of Lysosomal Related Genes in Early-Onset and Familial Parkinson's Disease in a Chinese Cohort.
Chen YP et al.
Journal of Parkinson's Disease, 2021
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
PINK1 phosphorylates Drp1S616 to regulate mitophagy-independent mitochondrial dynamics.
Han H et al.
Embo Reports, 2020
Genotype-Phenotype Relations for the Parkinson's Disease Genes Parkin, PINK1, DJ1: MDSGene Systematic Review.
Kasten M et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2018
Diagnostic exome sequencing in early-onset Parkinson's disease confirms VPS13C as a rare cause of autosomal-recessive Parkinson's disease.
Schormair B et al.
Clinical Genetics, 2018
PINK1 and Parkin: emerging themes in mitochondrial homeostasis.
McWilliams TG et al.
Current Opinion in Cell Biology, 2017
Early-Onset Parkinsonism: Case Report and Review of the Literature.
Al-Rumayyan A et al.
Pediatric Neurology, 2017
Identification of Ser465 as a novel PINK1 autophosphorylation site.
Guo JF et al.
Translational Neurodegeneration, 2017
Resequencing analysis of five Mendelian genes and the top genes from genome-wide association studies in Parkinson's Disease.
Benitez BA et al.
Molecular Neurodegeneration, 2016
BAG2 structure, function and involvement in disease.
Qin L et al.
Cellular & Molecular Biology Letters, 2016
The BAG2 protein stabilises PINK1 by decreasing its ubiquitination.
Che X et al.
Biochemical and Biophysical Research Communications, 2013
Cell metabolism affects selective vulnerability in PINK1-associated Parkinson's disease.
Yao Z et al.
Journal of Cell Science, 2011
Discovery of catalytically active orthologues of the Parkinson's disease kinase PINK1: analysis of substrate specificity and impact of mutations.
Woodroof HI et al.
Open Biology, 2011
R492X mutation in PTEN-induced putative kinase 1 induced cellular mitochondrial dysfunction and oxidative stress.
Yuan XL et al.
Brain Research, 2010
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
A new variant of the ATP13A2 gene in Chinese patients with early-onset parkinsonism.
Wang L et al.
Chinese Medical Journal, 2009
Mutation analysis of Parkin, PINK1, DJ-1 and ATP13A2 genes in Chinese patients with autosomal recessive early-onset Parkinsonism.
Guo JF et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2008
Identification of the novel D297fsX318 PINK1 mutation and phenotype variation in a family with early-onset Parkinson's disease.
Savettieri G et al.
Parkinsonism & Related Disorders, 2008
PINK1 mutation in Taiwanese early-onset parkinsonism : clinical, genetic, and dopamine transporter studies.
Weng YH et al.
Journal of Neurology, 2007
Novel features in a patient homozygous for the L347P mutation in the PINK1 gene.
Doostzadeh J et al.
Parkinsonism & Related Disorders, 2007
C-terminal truncation and Parkinson's disease-associated mutations down-regulate the protein serine/threonine kinase activity of PTEN-induced kinase-1.
Sim CH et al.
Human Molecular Genetics, 2006
[Exon rearrangement analysis of parkin gene in patients with isolated early-onset parkinsonism using semi-quantitative PCR].
Guo JF et al.
Zhonghua Yi Xue Za Zhi, 2006
Mutational analysis of the PINK1 gene in early-onset parkinsonism in Europe and North Africa.
Ibáñez P et al.
Brain : a Journal of Neurology, 2006
[Genotype and phenotype analyses of three families with autosomal recessive juvenile parkinsonism].
Guo JF et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2006
[Mutation analysis of DJ1 gene in patients with autosomal recessive early-onset Parkinsonism].
Guo JF et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2005