Associated Papers
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S et al.
Nature Medicine, 2025
39825153 (PubMed )
Supplement: 41591_2024_3420_MOESM3_ESM.xlsx › SuppTableS4.Disease_Causing
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG3
De novo variants cause complex symptoms in HSP-ATL1 (SPG3A) and uncover genotype-phenotype correlations.
Alecu JE et al.
Human Molecular Genetics, 2023
A review of the genetic spectrum of hereditary spastic paraplegias, inherited neuropathies and spinal muscular atrophies in Africans.
Mahungu AC et al.
Orphanet Journal of Rare Diseases, 2022
35331287 (PubMed )
Supplement: 13023_2022_2280_MOESM1_ESM.xlsx › Sheet1
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
Clinical and genetic characterization of hereditary spastic paraplegia type 3A in Taiwan.
Hsu SL et al.
Parkinsonism & Related Disorders, 2021
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
Clinical and genetic characterization of a cohort of Chinese patients with hereditary spastic paraplegia.
Yan YT et al.
Clinical Genetics, 2019
Clinical spectrum and genetic landscape for hereditary spastic paraplegias in China.
Dong EL et al.
Molecular Neurodegeneration, 2018
Targeted next-generation sequencing improves diagnosis of hereditary spastic paraplegia in Chinese patients.
Lu C et al.
Journal of Molecular Medicine (berlin, Germany), 2018
Clinical features and genotype-phenotype correlation analysis in patients with ATL1 mutations: A literature reanalysis.
Zhao GH et al.
Translational Neurodegeneration, 2017
Mutation and clinical characteristics of autosomal-dominant hereditary spastic paraplegias in China.
Luo Y et al.
Neuro-degenerative Diseases, 2014
Late-onset hereditary spastic paraplegia with thin corpus callosum caused by a new SPG3A mutation.
Orlacchio A et al.
Journal of Neurology, 2011
Select a paper to view details