Associated Papers
Comprehensive Characterization of Spastic Paraplegia in Korean Patients: A Single-Center Experience over Two Decades.
Choi Y et al.
Yonsei Medical Journal, 2026
Structural brain changes contributing to motor signs in pure hereditary spastic paraplegia type 4.
Piervincenzi C et al.
Journal of Neurology, 2025
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S et al.
Nature Medicine, 2025
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
Quality assurance for next-generation sequencing diagnostics of rare neurological diseases in the European Reference Network.
Maver A et al.
European Journal of Human Genetics : Ejhg, 2024
Clinical variants paired with phenotype: A rich resource for brain gene curation.
Chopra M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
Phase separation as a possible mechanism for dosage sensitivity.
Yang L et al.
Genome Biology, 2024
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
Reduced acetylated α-tubulin in SPAST hereditary spastic paraplegia patient PBMCs.
Wali G et al.
Frontiers in Neuroscience, 2023
Cohort analysis of novel SPAST variants in SPG4 patients and implementation of in vitro and in vivo studies to identify the pathogenic mechanism caused by splicing mutations.
Ferese R et al.
Frontiers in Neurology, 2023
Clinical and molecular characterization of a large cohort of childhood onset hereditary spastic paraplegias.
Giordani GM et al.
Scientific Reports, 2021
Single cell morphology distinguishes genotype and drug effect in Hereditary Spastic Paraplegia.
Wali G et al.
Scientific Reports, 2021
Novel mutations in the SPAST gene cause hereditary spastic paraplegia.
Zhu Z et al.
Parkinsonism & Related Disorders, 2019
Autonomic dysfunction in hereditary spastic paraplegia type 4.
González-Salazar C et al.
European Journal of Neurology, 2019
Are Cognitive Changes in Hereditary Spastic Paraplegias Restricted to Complicated Forms?
Jacinto-Scudeiro LA et al.
Frontiers in Neurology, 2019
[Hereditary spastic paraplegia type 4 (SPG4) in Russian patients].
Rudenskaya GE et al.
Zhurnal Nevrologii I Psikhiatrii Imeni S.s. Korsakova, 2019
Truncating mutations in SPAST patients are associated with a high rate of psychiatric comorbidities in hereditary spastic paraplegia.
Chelban V et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2017
SPAST mutation spectrum and familial occurrence among Czech patients with pure hereditary spastic paraplegia.
Mészárosová AU et al.
Journal of Human Genetics, 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
Clinical and Paraclinical Indicators of Motor System Impairment in Hereditary Spastic Paraplegia: A Pilot Study.
Martinuzzi A et al.
Plos One, 2016
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
Genetic analysis of SPG4 and SPG3A genes in a cohort of Chinese patients with hereditary spastic paraplegia.
Lu X et al.
Journal of the Neurological Sciences, 2014
SPAST mutations in Australian patients with hereditary spastic paraplegia.
Vandebona H et al.
Internal Medicine Journal, 2012
Novel and recurrent spastin mutations in a large series of SPG4 Italian families.
Nanetti L et al.
Neuroscience Letters, 2012
Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia.
McCorquodale DS et al.
Clinical Genetics, 2011
[Hereditary spastic paraplegia type 4 (SPG4): clinical and molecular-genetic characteristics].
Rudenskaia GE et al.
Zhurnal Nevrologii I Psikhiatrii Imeni S.s. Korsakova, 2010
Sequence variants in SPAST, SPG3A and HSPD1 in hereditary spastic paraplegia.
Svenstrup K et al.
Journal of the Neurological Sciences, 2009
Expansion of mutation spectrum, determination of mutation cluster regions and predictive structural classification of SPAST mutations in hereditary spastic paraplegia.
Shoukier M et al.
European Journal of Human Genetics : Ejhg, 2009
Autosomal dominant hereditary spastic paraplegia: DHPLC-based mutation analysis of SPG4 reveals eleven novel mutations.
Patrono C et al.
Human Mutation, 2005