Associated Papers
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.
Zech M et al.
Brain : a Journal of Neurology, 2025
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
WES-based screening of 7,000 newborns: A pilot study in Russia.
Shubina J et al.
Hgg Advances, 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
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
Mutational Spectrum of Spast (Spg4) and Atl1 (Spg3a) Genes In Russian Patients With Hereditary Spastic Paraplegia.
Kadnikova VA et al.
Scientific Reports, 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
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
Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.
LaDuca H et al.
Plos One, 2017
Genetic and phenotypic characterization of complex hereditary spastic paraplegia.
Kara E et al.
Brain : a Journal of Neurology, 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
Do not trust the pedigree: reduced and sex-dependent penetrance at a novel mutation hotspot in ATL1 blurs autosomal dominant inheritance of spastic paraplegia.
Varga RE et al.
Human Mutation, 2013
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
Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia.
Alvarez V et al.
Bmc Neurology, 2010
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
Characterization of a novel SPG3A deletion in a French-Canadian family.
Meijer IA et al.
Annals of Neurology, 2007
Incomplete penetrance in an SPG3A-linked family with a new mutation in the atlastin gene.
D'Amico A et al.
Neurology, 2004