Associated Papers
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
40583806 (PubMed )
Supplement: jmd-25100-Supplementary-Table-1.pdf
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG78
Kufor-Rakeb syndrome-associated psychosis: a novel loss-of-function ATP13A2 variant and response to antipsychotic therapy.
Colijn MA et al.
Neurogenetics, 2024
Cryo-EM structures and transport mechanism of human P5B type ATPase ATP13A2.
Chen X et al.
Cell Discovery, 2021
34728622 (PubMed )
Supplement: 41421_2021_334_MOESM1_ESM.pdf
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
Identification of a novel mutation in ATP13A2 associated with a complicated form of hereditary spastic paraplegia.
Odake Y et al.
Neurology. Genetics, 2020
Clinical and genetic analysis of ATP13A2 in hereditary spastic paraplegia expands the phenotype.
Estiar MA et al.
Molecular Genetics & Genomic Medicine, 2020
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