Associated Papers
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S et al.
Nature Medicine, 2025
39825153 (PubMed )
Supplement: 41591_2024_3420_MOESM3_ESM.xlsx › SuppTableS4.Disease_Causing
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG8
Whole exome sequencing in Serbian patients with hereditary spastic paraplegia.
Brankovic M et al.
Neurogenetics, 2024
Case report: A novel WASHC5 variant altering mRNA splicing causes spastic paraplegia in a patient.
Gao SY et al.
Frontiers in Genetics, 2023
38028608 (PubMed )
Supplement: DataSheet1.XLSX › Sheet1
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
Next-generation sequencing study reveals the broader variant spectrum of hereditary spastic paraplegia and related phenotypes.
Elert-Dobkowska E et al.
Neurogenetics, 2019
Expression of N471D strumpellin leads to defects in the endolysosomal system.
Song L et al.
Disease Models & Mechanisms, 2018
Three novel mutations in 20 patients with hereditary spastic paraparesis.
Duz MB et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2018
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
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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