Associated Papers
Shared burden of ultra-rare genetic variants across a spectrum of motor neuron diseases.
Wu G et al.
Translational Neurodegeneration, 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
Whole exome sequencing in Serbian patients with hereditary spastic paraplegia.
Brankovic M et al.
Neurogenetics, 2024
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
Strumpellin/WASHC5 regulates the structural plasticity of cortical neurons involved in gait coordination.
Lim SH et al.
Biochemical and Biophysical Research Communications, 2023
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
N471D WASH complex subunit strumpellin knock-in mice display mild motor and cardiac abnormalities and BPTF and KLHL11 dysregulation in brain tissue.
Clemen CS et al.
Neuropathology and Applied Neurobiology, 2022
[Autosomal dominant spastic paraplegias].
Rudenskaya GE et al.
Zhurnal Nevrologii I Psikhiatrii Imeni S.s. Korsakova, 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
Hereditary spastic paraplegia type 8: Neuropathological findings.
Pehrson C et al.
Brain Pathology (zurich, Switzerland), 2018
Architecture of the human interactome defines protein communities and disease networks.
Huttlin EL et al.
Nature, 2017
Clinical and genetic study of hereditary spastic paraplegia in Canada.
Chrestian N et al.
Neurology. Genetics, 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
Spastic Paraplegia Type 8: A First Report from India.
Mahale R et al.
Annals of Indian Academy of Neurology, 0