Associated Papers
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
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
AP5Z1/SPG48 frequency in autosomal recessive and sporadic spastic paraplegia.
Schlipf NA et al.
Molecular Genetics & Genomic Medicine, 2014
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