Associated Papers
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG48
Early Diagnosis of AP5Z1/SPG48 Spastic Paraplegia: Case Report and Review of the Literature.
Papoff FMA et al.
Neuropediatrics, 2024
Hereditary spastic paraplegia (SPG 48) with deafness and azoospermia: A case report.
Jin P et al.
Frontiers in Neurology, 2023
[A case of spastic paraplegia 48 with a novel mutation in the AP5Z1 gene].
Maruta K et al.
Rinsho Shinkeigaku = Clinical Neurology, 2020
Loss of AP-5 results in accumulation of aberrant endolysosomes: defining a new type of lysosomal storage disease.
Hirst J et al.
Human Molecular Genetics, 2015
A genome-scale DNA repair RNAi screen identifies SPG48 as a novel gene associated with hereditary spastic paraplegia.
Słabicki M et al.
Plos Biology, 2010
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