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
Rare but Relevant? Assessing Variants in Dystonia-Linked Genes in Parkinson's Disease.
Lange LM et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2026
Ubiquitin-Specific Protease 20 Promotes CCCP-Induced Mitophagy Through Deubiquitination and Stabilization of Serine/Threonine Protein Kinase PINK1.
Park GH et al.
Journal of Molecular Neuroscience : Mn, 2025
Mutations in the spliceosomal gene SNW1 cause neurodevelopment disorders with microcephaly.
Ji L et al.
The Journal of Clinical Investigation, 2025
Computational association in parkinson's disease SNPs with brain structural and functional alterations.
Subramaniyan S et al.
Neurogenetics, 2025
Large-scale copy number variant analysis in genes linked to Parkinson´s disease.
Landoulsi Z et al.
Npj Parkinson's Disease, 2025
The Global Landscape of Genetic Variation in Parkinson's disease: Multi-Ancestry Insights into Established Disease Genes and their Translational Relevance.
Lange LM et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Rare but Relevant: Assessing Variants in Dystonia-linked Genes in Parkinson's Disease.
Lange LM et al.
Medrxiv : the Preprint Server for Health Sciences, 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
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 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
Uncovering the genetic basis of Parkinson's disease globally: from discoveries to the clinic.
Lim SY et al.
The Lancet. Neurology, 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
Parkinson's disease variant detection and disclosure: PD GENEration, a North American study.
Cook L et al.
Brain : a Journal of Neurology, 2024
Osteogenesis imperfecta type 10 and the cellular scaffolds underlying common immunological diseases.
Herbert A
Genes and Immunity, 2024
Evaluation of the genetic basis of familial-associated early-onset hematologic cancers in an ancestral/ethnically diverse population.
Feng Q et al.
Haematologica, 2024
Lysosomal genes contribute to Parkinson's disease near agriculture with high intensity pesticide use.
Ngo KJ et al.
Npj Parkinson's Disease, 2024
Understanding monogenic Parkinson's disease at a global scale.
Junker J et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
PINK1-PD: A compound heterozygote of Filipino ancestry and 7 Tesla MRI findings.
Dulski J et al.
Parkinsonism & Related Disorders, 2024
The Landscape of Monogenic Parkinson's Disease in Populations of Non-European Ancestry: A Narrative Review.
Koros C et al.
Genes, 2023
Genetic study of early-onset Parkinson's disease in the Malaysian population.
Tay YW et al.
Parkinsonism & Related Disorders, 2023
Genetic Movement Disorders Commonly Seen in Asians.
Jagota P et al.
Movement Disorders Clinical Practice, 2023
TIM23 facilitates PINK1 activation by safeguarding against OMA1-mediated degradation in damaged mitochondria.
Akabane S et al.
Cell Reports, 2023
Genetic screening of Filipinos suspected with familial Parkinson's disease: A pilot study.
Caritativo ECA et al.
Parkinsonism & Related Disorders, 2023
A KMT2B Frameshift Variant Causing Focal Dystonia Restricted to the Oromandibular Region After Long-Term Follow-up.
Dy Closas AMF et al.
Journal of Movement Disorders, 2023
Pain in monogenic Parkinson's disease: a comprehensive review.
Alizadeh P et al.
Frontiers in Neurology, 2023
Post-translational modification and mitochondrial function in Parkinson's disease.
Luo S et al.
Frontiers in Molecular Neuroscience, 2023
Recurrent Biallelic p.L347P PINK1 Variant in Polynesians with Parkinsonism and Isolated Dopa-Responsive Dystonia.
Morales-Briceno H et al.
Movement Disorders Clinical Practice, 2022
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
Distinct genomic landscape of Chinese pediatric acute myeloid leukemia impacts clinical risk classification.
Liu T et al.
Nature Communications, 2022
The Role of Genetic Data in Selecting Device-Aided Therapies in Patients With Advanced Parkinson's Disease: A Mini-Review.
Chan GH
Frontiers in Aging Neuroscience, 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
Disruption of Mitochondrial Homeostasis: The Role of PINK1 in Parkinson's Disease.
Vizziello M et al.
Cells, 2021
Potential PINK1 Founder Effect in Polynesia Causing Early-Onset Parkinson's Disease.
Patel SG et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2021