Associated Papers
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
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
Dysfunction of Synaptic Vesicle Endocytosis in Parkinson's Disease.
Zou L et al.
Frontiers in Integrative Neuroscience, 2021
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
Early-Onset Parkinsonism: Case Report and Review of the Literature.
Al-Rumayyan A et al.
Pediatric Neurology, 2017
Phylogenetic and in silico structural analysis of the Parkinson disease-related kinase PINK1.
Cardona F et al.
Human Mutation, 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
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
In vitro and in silico analysis reveals an efficient algorithm to predict the splicing consequences of mutations at the 5' splice sites.
Sahashi K et al.
Nucleic Acids Research, 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
PINK1, Parkin, and DJ-1 mutations in Italian patients with early-onset parkinsonism.
Klein C et al.
European Journal of Human Genetics : Ejhg, 2005
Rapid eye movement sleep behavior disorder in parkinsonism with parkin mutations.
Kumru H et al.
Annals of Neurology, 2004
Novel PINK1 mutations in early-onset parkinsonism.
Hatano Y et al.
Annals of Neurology, 2004