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
Phenotypic Variability in ATP13A2 Mutations: The First Report of SPG78 From India.
Lalitha LP et al.
Journal of Movement Disorders, 2025
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
Kufor-Rakeb Syndrome in a Guatemalan Patient With an ATP13A2 Gene Pathogenic Variant: A Case Report.
Méndez-Veras R et al.
Case Reports in Genetics, 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
Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.
Umerenkov D et al.
Life Science Alliance, 2023
Autosomal Recessive Spastic Paraplegia Type 78 Associated with a Homozygous Variant in the ATP13A2 Gene.
Algahtani H et al.
Movement Disorders Clinical Practice, 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
Mutation analysis of the ATP13A2 gene in patients with PD and MSA from Italy.
Gagliardi M et al.
Journal of the Neurological Sciences, 2021
Structural Dynamics and Catalytic Mechanism of ATP13A2 (PARK9) from Simulations.
Mateeva T et al.
The Journal of Physical Chemistry. B, 2021
Cryo-EM structures and transport mechanism of human P5B type ATPase ATP13A2.
Chen X et al.
Cell Discovery, 2021
PARK Genes Link Mitochondrial Dysfunction and Alpha-Synuclein Pathology in Sporadic Parkinson's Disease.
Li W et al.
Frontiers in Cell and Developmental Biology, 2021
Identification of a novel mutation in ATP13A2 associated with a complicated form of hereditary spastic paraplegia.
Odake Y et al.
Neurology. Genetics, 2020
Different cortical excitability profiles in hereditary brain iron and copper accumulation.
Dubbioso R et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2020
Clinical and genetic analysis of ATP13A2 in hereditary spastic paraplegia expands the phenotype.
Estiar MA et al.
Molecular Genetics & Genomic Medicine, 2020
ATP13A2 deficiency disrupts lysosomal polyamine export.
van Veen S et al.
Nature, 2020
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
From PARK9 to SPG78: The clinical spectrum of ATP13A2 mutations.
Erro R et al.
Parkinsonism & Related Disorders, 2019
Genetic analysis of ATP13A2, PLA2G6 and FBXO7 in a cohort of Chinese patients with early-onset Parkinson's disease.
Shen T et al.
Scientific Reports, 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
Genetics of Parkinson's disease: the yield.
Spatola M et al.
Parkinsonism & Related Disorders, 2014
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
Beyond ubiquitination: the atypical functions of Fbxo7 and other F-box proteins.
Nelson DE et al.
Open Biology, 2013
Advances in the genetics of Parkinson disease.
Trinh J et al.
Nature Reviews. Neurology, 2013
Genetics and Pathophysiology of Neurodegeneration with Brain Iron Accumulation (NBIA).
Schneider SA et al.
Current Neuropharmacology, 2013
Characterization of cellular protective effects of ATP13A2/PARK9 expression and alterations resulting from pathogenic mutants.
Covy JP et al.
Journal of Neuroscience Research, 2012
Mitochondria, oxidative stress and neurodegeneration.
Federico A et al.
Journal of the Neurological Sciences, 2012
Novel mutation in ATP13A2 widens the spectrum of Kufor-Rakeb syndrome (PARK9).
Eiberg H et al.
Clinical Genetics, 2012
Altered apoptosis regulation in Kufor-Rakeb syndrome patients with mutations in the ATP13A2 gene.
Radi E et al.
Journal of Cellular and Molecular Medicine, 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
ATP13A2 variability in Taiwanese Parkinson's disease.
Chen CM et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2011
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
Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability.
Santoro L et al.
Neurogenetics, 2011