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
Expanding the Spectrum of AP5Z1-Related Hereditary Spastic Paraplegia (HSP-SPG48): A Multicenter Study on a Rare Disease.
Breza M et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2021
[A case of spastic paraplegia 48 with a novel mutation in the AP5Z1 gene].
Maruta K et al.
Rinsho Shinkeigaku = Clinical Neurology, 2020
[Clinical features and C12orf65 mutations of autosomal recessive spastic paraplegia-55: a case report].
Lin SZ et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2019
Clinical features and genetic spectrum in Chinese patients with recessive hereditary spastic paraplegia.
Wei Q et al.
Translational Neurodegeneration, 2019
Select a paper to view details