Associated Papers
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
Autosomal Recessive Spastic Paraplegia Type 78 Associated with a Homozygous Variant in the ATP13A2 Gene.
Algahtani H et al.
Movement Disorders Clinical Practice, 2022
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
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
Complicated hereditary spastic paraplegia due to ATP13A2 mutations: what's in a name?
de Bot S et al.
Brain : a Journal of Neurology, 2017
Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene-disease associations and unanticipated rare disorders.
van de Warrenburg BP et al.
European Journal of Human Genetics : Ejhg, 2016
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