Associated Papers
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
Frequently observed polyneuropathy expands phenotypic spectrum of apparently pure autosomal dominant hereditary spastic paraplegias.
Stępniak I et al.
Neurologia I Neurochirurgia Polska, 2025
Clinically Relevant Genes Identified in Cerebral Palsy Cohorts Following Evaluation of the Clinical Description and Phenotype: A Systematic Review.
Wilson YA et al.
Journal of Child Neurology, 2024
ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization.
Schlüter A et al.
Genome Medicine, 2023
De novo variants cause complex symptoms in HSP-ATL1 (SPG3A) and uncover genotype-phenotype correlations.
Alecu JE et al.
Human Molecular Genetics, 2023
Autologous iPSC-Derived Human Neuromuscular Junction to Model the Pathophysiology of Hereditary Spastic Paraplegia.
Costamagna D et al.
Cells, 2022
Reduced penetrance of an eastern French mutation in ATL1 autosomal-dominant inheritance (SPG3A): extended phenotypic spectrum coupled with brain 18F-FDG PET.
Hocquel A et al.
Neurogenetics, 2022
Extensive In Silico Analysis of ATL1 Gene : Discovered Five Mutations That May Cause Hereditary Spastic Paraplegia Type 3A.
Mustafa MI et al.
Scientifica, 2020
Mutational Spectrum of Spast (Spg4) and Atl1 (Spg3a) Genes In Russian Patients With Hereditary Spastic Paraplegia.
Kadnikova VA et al.
Scientific Reports, 2019
A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.
Zheng J et al.
Molecular Genetics & Genomic Medicine, 2019
Novel ATL1 mutation in a Chinese family with hereditary spastic paraplegia: A case report and review of literature.
Xiao XW et al.
World Journal of Clinical Cases, 2019
Clinical and genetic characterization of a cohort of Chinese patients with hereditary spastic paraplegia.
Yan YT et al.
Clinical Genetics, 2019
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
Clinical features and genotype-phenotype correlation analysis in patients with ATL1 mutations: A literature reanalysis.
Zhao GH et al.
Translational Neurodegeneration, 2017
Hereditary spastic paraplegia in Greece: characterisation of a previously unexplored population using next-generation sequencing.
Lynch DS et al.
European Journal of Human Genetics : Ejhg, 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
Mutational spectrum of the SPAST and ATL1 genes in Korean patients with hereditary spastic paraplegia.
Park H et al.
Journal of the Neurological Sciences, 2015
A novel KIAA0196 (SPG8) mutation in a Chinese family with spastic paraplegia.
Wang X et al.
Chinese Medical Journal, 2014
Hereditary spastic paraplegia-causing mutations in atlastin-1 interfere with BMPRII trafficking.
Zhao J et al.
Molecular and Cellular Neurosciences, 2013
A high-throughput resequencing microarray for autosomal dominant spastic paraplegia genes.
Dufke C et al.
Neurogenetics, 2012
Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia.
McCorquodale DS et al.
Clinical Genetics, 2011
Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I.
Guelly C et al.
American Journal of Human Genetics, 2011
The effect of HSP-causing mutations in SPG3A and NIPA1 on the assembly, trafficking, and interaction between atlastin-1 and NIPA1.
Botzolakis EJ et al.
Molecular and Cellular Neurosciences, 2011
Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia.
Alvarez V et al.
Bmc Neurology, 2010
Atlastin-1, the dynamin-like GTPase responsible for spastic paraplegia SPG3A, remodels lipid membranes and may form tubules and vesicles in the endoplasmic reticulum.
Muriel MP et al.
Journal of Neurochemistry, 2009
Four novel SPG3A/atlastin mutations identified in autosomal dominant hereditary spastic paraplegia kindreds with intra-familial variability in age of onset and complex phenotype.
Smith BN et al.
Clinical Genetics, 2009
A novel mutation in the SPG3A gene (atlastin) in hereditary spastic paraplegia.
Matsui M et al.
Journal of Neurology, 2007
A SPG3A mutation with a novel foot phenotype of hereditary spastic paraplegia in a Chinese Han family.
Li XH et al.
Chinese Medical Journal, 2007
Mutations in the SPG3A gene encoding the GTPase atlastin interfere with vesicle trafficking in the ER/Golgi interface and Golgi morphogenesis.
Namekawa M et al.
Molecular and Cellular Neurosciences, 2007
Hereditary spastic paraplegia 3A associated with axonal neuropathy.
Ivanova N et al.
Archives of Neurology, 2007
SPG4 founder effect in French Canadians with hereditary spastic paraplegia.
Meijer IA et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2007
[SPG3A-hereditary spastin paraplegia with genetic anticipation and incomplete penetrance].
Ming L
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2007
Interaction of two hereditary spastic paraplegia gene products, spastin and atlastin, suggests a common pathway for axonal maintenance.
Evans K et al.
Proceedings of the National Academy of Sciences of the United States of America, 2006
A founder effect and mutational hot spots may contribute to the most frequent mutations in the SPG3A gene.
Namekawa M et al.
Neurogenetics, 2006
Emerging pathways for hereditary axonopathies.
Züchner S et al.
Journal of Molecular Medicine (berlin, Germany), 2005
The R495W mutation in SPG3A causes spastic paraplegia associated with axonal neuropathy.
Scarano V et al.
Journal of Neurology, 2005