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
Kufor-Rakeb syndrome: a cohort-based clinical, imaging and genetic profile.
Roy S et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2026
Population-Specific Differences in Pathogenic Variants of Genes Associated with Monogenic Parkinson's Disease.
Flores-Ocampo V et al.
Genes, 2025
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
Spastic Paraplegia Type 78 Associated With ATP13A2 Gene Variants in Compound Heterozygosity.
Ramírez RB et al.
Molecular Genetics & Genomic Medicine, 2025
Kufor-Rakeb syndrome-associated psychosis: a novel loss-of-function ATP13A2 variant and response to antipsychotic therapy.
Colijn MA et al.
Neurogenetics, 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
The landscape of rare genetic variants in familial Waldenström macroglobulinemia.
Pemov A et al.
Blood Neoplasia, 2024
ATP13A2 (PARK9) and basal ganglia function.
Croucher KM et al.
Frontiers in Neurology, 2023
Genetic and Epigenetic Constructs of Progressive Supranuclear Palsy.
Debnath M et al.
Annals of Neurosciences, 2022
Lifetime risk of autosomal recessive neurodegeneration with brain iron accumulation (NBIA) disorders calculated from genetic databases.
Kolarova H et al.
Ebiomedicine, 2022
The Roles of ATP13A2 Gene Mutations Leading to Abnormal Aggregation of α-Synuclein in Parkinson's Disease.
Zhang F et al.
Frontiers in Cellular Neuroscience, 2022
Neuronal ceroid lipofuscinosis in the South American-Caribbean region: An epidemiological overview.
Guelbert G et al.
Frontiers in Neurology, 2022
Cryo-EM structures and transport mechanism of human P5B type ATPase ATP13A2.
Chen X et al.
Cell Discovery, 2021
Genotype-Phenotype Relations for the Atypical Parkinsonism Genes: MDSGene Systematic Review.
Wittke C et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2021
Intermediate phenotype of ATP13A2 mutation in two Chilean siblings: Towards a continuum between parkinsonism and hereditary spastic paraplegia.
Miranda M et al.
Parkinsonism & Related Disorders, 2020
A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders.
Ngo KJ et al.
Human Mutation, 2020
Partial loss of ATP13A2 causes selective gliosis independent of robust lipofuscinosis.
Rayaprolu S et al.
Molecular and Cellular Neurosciences, 2018
Kufor-Rakeb Syndrome/PARK9: One Novel and One Possible Recurring Ashkenazi ATP13A2 Mutation.
Inzelberg R et al.
Journal of Parkinson's Disease, 2018
The Parkinson's disease-associated genes ATP13A2 and SYT11 regulate autophagy via a common pathway.
Bento CF et al.
Nature Communications, 2016
Nanoparticles restore lysosomal acidification defects: Implications for Parkinson and other lysosomal-related diseases.
Bourdenx M et al.
Autophagy, 2016
The role of ATP13A2 in Parkinson's disease: Clinical phenotypes and molecular mechanisms.
Park JS et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2015
Genetic analysis of the ATP1B4 gene in Chinese Han patients with Parkinson's disease.
Gao K et al.
Molecular Biology Reports, 2014
Mutations in the ATP13A2 gene and Parkinsonism: a preliminary review.
Yang X et al.
Biomed Research International, 2014
Genetics and Pathophysiology of Neurodegeneration with Brain Iron Accumulation (NBIA).
Schneider SA et al.
Current Neuropharmacology, 2013
Novel mutation in ATP13A2 widens the spectrum of Kufor-Rakeb syndrome (PARK9).
Eiberg H et al.
Clinical Genetics, 2012
Analysis of ATP13A2 in large neurodegeneration with brain iron accumulation (NBIA) and dystonia-parkinsonism cohorts.
Kruer MC et al.
Neuroscience Letters, 2012
Syndromes of neurodegeneration with brain iron accumulation (NBIA): an update on clinical presentations, histological and genetic underpinnings, and treatment considerations.
Schneider SA et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2012
Common pathogenic effects of missense mutations in the P-type ATPase ATP13A2 (PARK9) associated with early-onset parkinsonism.
Podhajska A et al.
Plos One, 2012
Pathogenic effects of novel mutations in the P-type ATPase ATP13A2 (PARK9) causing Kufor-Rakeb syndrome, a form of early-onset parkinsonism.
Park JS et al.
Human Mutation, 2011
Juvenile dystonia-parkinsonism and dementia caused by a novel ATP13A2 frameshift mutation.
Crosiers D et al.
Parkinsonism & Related Disorders, 2011
Clinical spectrum of Kufor-Rakeb syndrome in the Chilean kindred with ATP13A2 mutations.
Behrens MI et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2010
From genes to proteins in mendelian Parkinson's disease: an overview.
Pirkevi C et al.
Anatomical Record (hoboken, N.j. : 2007), 2009
ATP13A2 variants in early-onset Parkinson's disease patients and controls.
Djarmati A et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2009
ATP13A2 variability in Parkinson disease.
Vilariño-Güell C et al.
Human Mutation, 2009
Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase.
Ramirez A et al.
Nature Genetics, 2006