Associated Papers
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG8
SPG8 mutations in Italian families: clinical data and literature review.
Ginanneschi F et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2020
Hereditary spastic paraplegia SPG8 mutations impair CAV1-dependent, integrin-mediated cell adhesion.
Lee S et al.
Science Signaling, 2020
First patient with hereditary spastic paraplegia type 8 in Poland.
Bogucki P et al.
Clinical Case Reports, 2017
Exome sequencing reveals a novel missense mutation in the KIAA0196 gene in a Japanese patient with SPG8.
Ichinose Y et al.
Clinical Neurology and Neurosurgery, 2016
Molecular epidemiology and clinical spectrum of hereditary spastic paraplegia in the Japanese population based on comprehensive mutational analyses.
Ishiura H et al.
Journal of Human Genetics, 2016
A novel strumpellin mutation and potential pitfalls in the molecular diagnosis of hereditary spastic paraplegia type SPG8.
Jahic A et al.
Journal of the Neurological Sciences, 2014
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