Associated Papers
Genetic Evaluation of Patients with Clinically Suspected Hereditary Spastic Paraplegia with Seven Novel Variants.
Özdemir TR et al.
Annals of Indian Academy of Neurology, 2025
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG3
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
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
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
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.
Fink JK
Current Neurology and Neuroscience Reports, 2006
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
Infancy onset hereditary spastic paraplegia associated with a novel atlastin mutation.
Dalpozzo F et al.
Neurology, 2003
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