Associated Papers
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG3
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
39246294 (PubMed )
Supplement: sj-xlsx-2-jcn-10.1177_08830738241277231.xlsx › eTable_4
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
32958805 (PubMed )
Supplement: 41598_2020_72404_MOESM2_ESM.xlsx › ClinVar
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
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
Clinical features and genotype-phenotype correlation analysis in patients with ATL1 mutations: A literature reanalysis.
Zhao GH et al.
Translational Neurodegeneration, 2017
ER network formation and membrane fusion by atlastin1/SPG3A disease variants.
Ulengin I et al.
Molecular Biology of the Cell, 2015
A high-throughput resequencing microarray for autosomal dominant spastic paraplegia genes.
Dufke C et al.
Neurogenetics, 2012
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
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
The R495W mutation in SPG3A causes spastic paraplegia associated with axonal neuropathy.
Scarano V et al.
Journal of Neurology, 2005
Early onset autosomal dominant spastic paraplegia caused by novel mutations in SPG3A.
Abel A et al.
Neurogenetics, 2004
Novel mutations in the Atlastin gene (SPG3A) in families with autosomal dominant hereditary spastic paraplegia and evidence for late onset forms of HSP linked to the SPG3A locus.
Sauter SM et al.
Human Mutation, 2004
Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia.
Zhao X et al.
Nature Genetics, 2001
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