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
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
Kufor-Rakeb syndrome-associated psychosis: a novel loss-of-function ATP13A2 variant and response to antipsychotic therapy.
Colijn MA et al.
Neurogenetics, 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
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
Kufor-Rakeb Syndrome/PARK9: One Novel and One Possible Recurring Ashkenazi ATP13A2 Mutation.
Inzelberg R et al.
Journal of Parkinson's Disease, 2018
Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78).
Estrada-Cuzcano A et al.
Brain : a Journal of Neurology, 2017
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
Mutations in the ATP13A2 gene and Parkinsonism: a preliminary review.
Yang X et al.
Biomed Research International, 2014
Advances in the genetics of Parkinson disease.
Trinh J et al.
Nature Reviews. Neurology, 2013
ATP13A2 deficiency induces a decrease in cathepsin D activity, fingerprint-like inclusion body formation, and selective degeneration of dopaminergic neurons.
Matsui H et al.
Febs Letters, 2013
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
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
Juvenile dystonia-parkinsonism and dementia caused by a novel ATP13A2 frameshift mutation.
Crosiers D et al.
Parkinsonism & Related Disorders, 2011
From genes to proteins in mendelian Parkinson's disease: an overview.
Pirkevi C et al.
Anatomical Record (hoboken, N.j. : 2007), 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