Associated Papers
An update on the monogenic causes of Parkinson's disease: Impact on patient stratification and personalised medicine.
Asmi S et al.
Ageing Research Reviews, 2026
Genetic testing for Parkinson's disease in Israel: Insights from the Rostock Parkinson's Disease (ROPAD) study.
Anis S et al.
Parkinsonism & Related Disorders, 2025
Population-Specific Differences in Pathogenic Variants of Genes Associated with Monogenic Parkinson's Disease.
Flores-Ocampo V et al.
Genes, 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
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
MARS1 mutations linked to familial trigeminal neuralgia via the integrated stress response.
Wang A et al.
The Journal of Headache and Pain, 2023
Single-cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells.
Nassir N et al.
Human Genomics, 2021
PINK1: A Bridge between Mitochondria and Parkinson's Disease.
Gonçalves FB et al.
Life (basel, Switzerland), 2021
Dysfunction of Synaptic Vesicle Endocytosis in Parkinson's Disease.
Zou L et al.
Frontiers in Integrative Neuroscience, 2021
The PINK1-Parkin mitophagy signalling pathway is not functional in peripheral blood mononuclear cells.
Bradshaw AV et al.
Plos One, 2021
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use.
Husson T et al.
Translational Psychiatry, 2020
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders.
Guo H et al.
Nature Communications, 2019
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
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
A Clinical and Molecular Genetic Study of 50 Families with Autosomal Recessive Parkinsonism Revealed Known and Novel Gene Mutations.
Taghavi S et al.
Molecular Neurobiology, 2018
Rescue of Pink1 Deficiency by Stress-Dependent Activation of Autophagy.
Zhang Y et al.
Cell Chemical Biology, 2017
Parkinson disease: insights in clinical, genetic and pathological features of monogenic disease subtypes.
Crosiers D et al.
Journal of Chemical Neuroanatomy, 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
Evaluation of PINK1 variants in Indian Parkinson's disease patients.
Biswas A et al.
Parkinsonism & Related Disorders, 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
Biochemical aspects of the neuroprotective mechanism of PTEN-induced kinase-1 (PINK1).
Mills RD et al.
Journal of Neurochemistry, 2008
Novel features in a patient homozygous for the L347P mutation in the PINK1 gene.
Doostzadeh J et al.
Parkinsonism & Related Disorders, 2007
A cell biological perspective on mitochondrial dysfunction in Parkinson disease and other neurodegenerative diseases.
Mandemakers W et al.
Journal of Cell Science, 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 mutations in sporadic early-onset Parkinson's disease.
Tan EK et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2006
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
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