Associated Papers
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 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
Clinical utility of a genetic diagnosis in individuals with cerebral palsy and related motor disorders.
Santana Almansa A et al.
Annals of Clinical and Translational Neurology, 2024
Genetic etiology of progressive pediatric neurological disorders.
Aaltio J et al.
Pediatric Research, 2024
Reply to: Early-Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST.
Saffari A et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2023
A novel missense mutation in SPAST causes hereditary spastic paraplegia in male members of a family: A case report.
Wang XC et al.
Molecular Medicine Reports, 2023
Genetic and clinical features of pediatric-onset hereditary spastic paraplegia: a single-center study in Japan.
Ikeda A et al.
Frontiers in Neurology, 2023
Mendelian etiologies identified with whole exome sequencing in cerebral palsy.
Chopra M et al.
Annals of Clinical and Translational Neurology, 2022
Genome scale analysis of pathogenic variants targetable for single base editing.
Lavrov AV et al.
Bmc Medical Genomics, 2020
Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort.
Dong X et al.
Journal of Medical Genetics, 2020
An allosteric network in spastin couples multiple activities required for microtubule severing.
Sandate CR et al.
Nature Structural & Molecular Biology, 2019
The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes.
Travaglini L et al.
Neurogenetics, 2018
Mutational spectrum of the SPAST and ATL1 genes in Korean patients with hereditary spastic paraplegia.
Park H et al.
Journal of the Neurological Sciences, 2015
Mutation and clinical characteristics of autosomal-dominant hereditary spastic paraplegias in China.
Luo Y et al.
Neuro-degenerative Diseases, 2014
Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia.
Alvarez V et al.
Bmc Neurology, 2010
Spastic paraplegia in Romania: high prevalence of SPG4 mutations.
Orlacchio A et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2008