Associated Papers
LXR agonist rescues synaptic dysfunction and degeneration in SPG3A patient-specific iPSC-derived neurons.
Thakur G et al.
Acta Neuropathologica Communications, 2025
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
Patients with complex and very-early-onset ATL1-related spastic paraplegia offer insights on genotype/phenotype correlations and support for autosomal recessive forms of SPG3A.
Hamamie-Chaar A et al.
Journal of Neurology, 2024
A novel insertion mutation in atlastin 1 is associated with spastic quadriplegia, increased membrane tethering, and aberrant conformational switching.
Kelly CM et al.
The Journal of Biological Chemistry, 2022
Pediatric inherited peripheral neuropathy: a prospective study at a Spanish referral center.
Argente-Escrig H et al.
Annals of Clinical and Translational Neurology, 2021
In vivo Analysis of CRISPR/Cas9 Induced Atlastin Pathological Mutations in Drosophila.
Montagna A et al.
Frontiers in Neuroscience, 2020
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
A hereditary spastic paraplegia-associated atlastin variant exhibits defective allosteric coupling in the catalytic core.
O'Donnell JP et al.
The Journal of Biological Chemistry, 2018
Clinical features and genotype-phenotype correlation analysis in patients with ATL1 mutations: A literature reanalysis.
Zhao GH et al.
Translational Neurodegeneration, 2017
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
Extending the clinical spectrum of SPG3A mutations to a very severe and very early complicated phenotype.
Haberlová J et al.
Journal of Neurology, 2008
Hereditary spastic paraplegia 3A associated with axonal neuropathy.
Ivanova N et al.
Archives of Neurology, 2007
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