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
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
Genetic determinants of global developmental delay and intellectual disability in Ukrainian children.
Shchubelka K et al.
Journal of Neurodevelopmental Disorders, 2024
Co-occurrence of amyotrophic lateral sclerosis and Leber's hereditary optic neuropathy: is mitochondrial dysfunction a modifier?
Amore G et al.
Journal of Neurology, 2023
Frequency of Parkinson's Disease Genes and Role of PARK2 in Amyotrophic Lateral Sclerosis: An NGS Study.
Vacchiano V et al.
Genes, 2022
Systematic analysis of PINK1 variants of unknown significance shows intact mitophagy function for most variants.
Ma KY et al.
Npj Parkinson's Disease, 2021
Identification of sixteen novel candidate genes for late onset Parkinson's disease.
Gialluisi A et al.
Molecular Neurodegeneration, 2021
Advances in the genetics of Parkinson disease.
Trinh J et al.
Nature Reviews. Neurology, 2013
Characterization of PINK1 (PTEN-induced putative kinase 1) mutations associated with Parkinson disease in mammalian cells and Drosophila.
Song S et al.
The Journal of Biological Chemistry, 2013
Association of Parkinson's disease with six single nucleotide polymorphisms located in four PARK genes in the northern Han Chinese population.
Zhou Y et al.
Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia, 2012
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
Biochemical aspects of the neuroprotective mechanism of PTEN-induced kinase-1 (PINK1).
Mills RD et al.
Journal of Neurochemistry, 2008
PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum.
Marongiu R et al.
Human Mutation, 2008
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
Homozygous and heterozygous PINK1 mutations: considerations for diagnosis and care of Parkinson's disease patients.
Zadikoff C et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2006
Early-onset parkinsonism associated with PINK1 mutations: frequency, genotypes, and phenotypes.
Bonifati V et al.
Neurology, 2005