Associated Papers
Motor Neuron Involvement in Two ATP13A2-Related Families: ALS And HSP-Like Phenotypes.
Khosravi S et al.
Movement Disorders Clinical Practice, 2025
Clinical and genetic analysis of ATP13A2 in hereditary spastic paraplegia expands the phenotype.
Estiar MA et al.
Molecular Genetics & Genomic Medicine, 2020
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
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
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