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
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
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
Clinical and ultrastructural findings in an ataxic variant of Kufor-Rakeb syndrome.
Pietrzak A et al.
Folia Neuropathologica, 2019
Select a paper to view details