Associated Papers
Natural history in hereditary spastic paraplegias: real-world data from an Austrian cohort.
Amprosi M et al.
Journal of Neurology, 2026
A Phenotypic Paradigm for Cerebral Palsy Genetics.
Arterbery AS et al.
Medrxiv : the Preprint Server for Health Sciences, 2026
Shared burden of ultra-rare genetic variants across a spectrum of motor neuron diseases.
Wu G et al.
Translational Neurodegeneration, 2025
Experience in the clinical and genetic diagnosis of a series of Algerian patients with hereditary spastic paraplegias.
Messaoud-Khelifi M et al.
Neurogenetics, 2025
Unravelling genetic etiology of cerebral palsy: findings from a Slovenian pediatric cohort.
Arkar Silan U et al.
Frontiers in Neurology, 2025
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
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A et al.
Nature Genetics, 2024
ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization.
Schlüter A et al.
Genome Medicine, 2023
De novo variants cause complex symptoms in HSP-ATL1 (SPG3A) and uncover genotype-phenotype correlations.
Alecu JE et al.
Human Molecular Genetics, 2023
Anticipation Can Be More Common in Hereditary Spastic Paraplegia with SPAST Mutations Than It Appears.
Hashemi SS et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2022
Multiple sclerosis in patients with hereditary spastic paraplegia: a case report and systematic review.
Giannoccaro MP et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022
Clinical characteristics and proteome modifications in two Charcot-Marie-Tooth families with the AARS1 Arg326Trp mutation.
Høyer H et al.
Bmc Neurology, 2022
Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia.
Méreaux JL et al.
Brain : a Journal of Neurology, 2022
Reconstitution of human atlastin fusion activity reveals autoinhibition by the C terminus.
Crosby D et al.
The Journal of Cell Biology, 2022
Clinical and molecular characterization of a large cohort of childhood onset hereditary spastic paraplegias.
Giordani GM et al.
Scientific Reports, 2021
Clinical and genetic characterization of hereditary spastic paraplegia type 3A in Taiwan.
Hsu SL et al.
Parkinsonism & Related Disorders, 2021
Hereditary spastic paraplegia initially diagnosed as cerebral palsy.
Suchowersky O et al.
Clinical Parkinsonism & Related Disorders, 2021
Preimplantation Genetic Testing for Spastic Paraplegia Type 3.
Yapijakis C et al.
Advances in Experimental Medicine and Biology, 2021
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
In vivo Analysis of CRISPR/Cas9 Induced Atlastin Pathological Mutations in Drosophila.
Montagna A et al.
Frontiers in Neuroscience, 2020
Insights From Genetic Studies of Cerebral Palsy.
Lewis SA et al.
Frontiers in Neurology, 2020
Mutational Spectrum of Spast (Spg4) and Atl1 (Spg3a) Genes In Russian Patients With Hereditary Spastic Paraplegia.
Kadnikova VA et al.
Scientific Reports, 2019
A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.
Zheng J et al.
Molecular Genetics & Genomic Medicine, 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
Next-generation sequencing study reveals the broader variant spectrum of hereditary spastic paraplegia and related phenotypes.
Elert-Dobkowska E et al.
Neurogenetics, 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
Targeted next-generation sequencing improves diagnosis of hereditary spastic paraplegia in Chinese patients.
Lu C et al.
Journal of Molecular Medicine (berlin, Germany), 2018
Sensory-Neuropathy-Causing Mutations in ATL3 Cause Aberrant ER Membrane Tethering.
Krols M et al.
Cell Reports, 2018
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 and genetic study of hereditary spastic paraplegia in Canada.
Chrestian N et al.
Neurology. Genetics, 2017
Clinical features and genotype-phenotype correlation analysis in patients with ATL1 mutations: A literature reanalysis.
Zhao GH et al.
Translational Neurodegeneration, 2017
Mammalian knock out cells reveal prominent roles for atlastin GTPases in ER network morphology.
Zhao G et al.
Experimental Cell Research, 2016
Genetic background of the hereditary spastic paraplegia phenotypes in Hungary - An analysis of 58 probands.
Balicza P et al.
Journal of the Neurological Sciences, 2016
Mutation analysis of four Chinese families with pure hereditary spastic paraplegia: pseudo- X-linked dominant inheritance and male lethality due to a novel ATL1 mutation.
Zhao N et al.
Genetics and Molecular Research : Gmr, 2015
De novo mutations in SPG3A: a challenge in differential diagnosis and genetic counselling.
Leonardi L et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2015
ER network formation and membrane fusion by atlastin1/SPG3A disease variants.
Ulengin I et al.
Molecular Biology of the Cell, 2015
A novel KIAA0196 (SPG8) mutation in a Chinese family with spastic paraplegia.
Wang X et al.
Chinese Medical Journal, 2014
Mutation and clinical characteristics of autosomal-dominant hereditary spastic paraplegias in China.
Luo Y et al.
Neuro-degenerative Diseases, 2014
A diagnostic gene chip for hereditary spastic paraplegias.
Luo Y et al.
Brain Research Bulletin, 2013
SPG3A-linked hereditary spastic paraplegia associated with cerebral glucose hypometabolism.
Terada T et al.
Annals of Nuclear Medicine, 2013
Hereditary spastic paraplegia-causing mutations in atlastin-1 interfere with BMPRII trafficking.
Zhao J et al.
Molecular and Cellular Neurosciences, 2013
A high-throughput resequencing microarray for autosomal dominant spastic paraplegia genes.
Dufke C et al.
Neurogenetics, 2012
Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia.
McCorquodale DS et al.
Clinical Genetics, 2011
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
The effect of HSP-causing mutations in SPG3A and NIPA1 on the assembly, trafficking, and interaction between atlastin-1 and NIPA1.
Botzolakis EJ et al.
Molecular and Cellular Neurosciences, 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
Clinical and genetic analysis of a Korean family with hereditary spastic paraplegia type 3.
Kwon MJ et al.
Annals of Clinical and Laboratory Science, 2010
Sequence variants in SPAST, SPG3A and HSPD1 in hereditary spastic paraplegia.
Svenstrup K et al.
Journal of the Neurological Sciences, 2009
Hereditary spastic paraplegia: identification of an SPG3A gene mutation in a Chinese family.
Chan KY et al.
Hong Kong Medical Journal = Xianggang Yi Xue Za Zhi, 2009
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