Associated Papers
CCDC22 mutations that impair COMMD binding cause attenuated 3C/Ritscher-Schinzel syndrome.
Singla A et al.
Bmc Medical Genomics, 2025
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
The crucial role of VPS35 and SHH in Parkinson's disease: Understanding the mechanisms behind the neurodegenerative disorder.
Bhardwaj K et al.
Brain Research, 2024
Classification of domains in predicted structures of the human proteome.
Schaeffer RD et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
Case report: A novel WASHC5 variant altering mRNA splicing causes spastic paraplegia in a patient.
Gao SY et al.
Frontiers in Genetics, 2023
Clinical and molecular characterization of a large cohort of childhood onset hereditary spastic paraplegias.
Giordani GM et al.
Scientific Reports, 2021
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
Expression of N471D strumpellin leads to defects in the endolysosomal system.
Song L et al.
Disease Models & Mechanisms, 2018
First patient with hereditary spastic paraplegia type 8 in Poland.
Bogucki P et al.
Clinical Case Reports, 2017
Architecture of the human interactome defines protein communities and disease networks.
Huttlin EL et al.
Nature, 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
Role of the Retromer Complex in Neurodegenerative Diseases.
Li C et al.
Frontiers in Aging Neuroscience, 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
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, 2014
A novel mutation in KIAA0196: identification of a gene involved in Ritscher-Schinzel/3C syndrome in a First Nations cohort.
Elliott AM et al.
Journal of Medical Genetics, 2013
Exome sequencing expands the mutational spectrum of SPG8 in a family with spasticity responsive to L-DOPA treatment.
Bettencourt C et al.
Journal of Neurology, 2013
Pure adult-onset spastic paraplegia caused by a novel mutation in the KIAA0196 (SPG8) gene.
de Bot ST et al.
Journal of Neurology, 2013
The hereditary spastic paraplegia protein strumpellin: characterisation in neurons and of the effect of disease mutations on WASH complex assembly and function.
Freeman C et al.
Biochimica Et Biophysica Acta, 2013
Strumpellin is a novel valosin-containing protein binding partner linking hereditary spastic paraplegia to protein aggregation diseases.
Clemen CS et al.
Brain : a Journal of Neurology, 2010
Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia.
Valdmanis PN et al.
American Journal of Human Genetics, 2007