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
The genetics of autism spectrum disorder in an East African familial cohort.
Tuncay IO et al.
Cell Genomics, 2023
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
Genome sequencing uncovers phenocopies in primary progressive multiple sclerosis.
Jia X et al.
Annals of Neurology, 2018
29908077 (PubMed )
Supplement: ANA-84-51-s004.pdf
Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study.
D'Amore A et al.
Frontiers in Neurology, 2018
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