Associated Papers
Genetic Evaluation of Patients with Clinically Suspected Hereditary Spastic Paraplegia with Seven Novel Variants.
Özdemir TR et al.
Annals of Indian Academy of Neurology, 2025
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG48
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
Discovery of rare ancestry-specific variants in the fetal genome that confer risk of preterm premature rupture of membranes (PPROM) and preterm birth.
Modi BP et al.
Bmc Medical Genetics, 2018
Role of the AP-5 adaptor protein complex in late endosome-to-Golgi retrieval.
Hirst J et al.
Plos Biology, 2018
Compromized DNA repair as a basis for identification of cancer radiotherapy patients with extreme radiosensitivity.
Lobachevsky P et al.
Cancer Letters, 2016
Complicated spastic paraplegia in patients with AP5Z1 mutations (SPG48).
Hirst J et al.
Neurology. Genetics, 2016
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
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