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
Diagnostic Yield and Genotype-Phenotype Correlations of Clinical Exome Sequencing in Hereditary Spastic Paraparesis: Experience From Eastern Spain.
Carretero-Vilarroig L et al.
European Journal of Neurology, 2026
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
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
Clinical features and genetic spectrum of Chinese patients with hereditary spastic paraplegia: A 14-year study.
Yu W et al.
Frontiers in Genetics, 2023
Reduced acetylated α-tubulin in SPAST hereditary spastic paraplegia patient PBMCs.
Wali G et al.
Frontiers in Neuroscience, 2023
Single cell morphology distinguishes genotype and drug effect in Hereditary Spastic Paraplegia.
Wali G et al.
Scientific Reports, 2021
[Clinical characteristics and variant analysis of five pedigrees with hereditary spastic paraplegia].
Xie Y et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese 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
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
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
Clinical and genetic study of hereditary spastic paraplegia in Canada.
Chrestian N et al.
Neurology. Genetics, 2017
SPAST mutation spectrum and familial occurrence among Czech patients with pure hereditary spastic paraplegia.
Mészárosová AU et al.
Journal of Human Genetics, 2016
Spastin mutation screening in Chinese patients with pure hereditary spastic paraplegia.
Wei QQ et al.
Parkinsonism & Related Disorders, 2014
Mutation analysis of SPAST, ATL1, and REEP1 in Korean Patients with Hereditary Spastic Paraplegia.
Kim TH et al.
Journal of Clinical Neurology (seoul, Korea), 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 analysis of the SPG4 gene in Italian patients with pure and complicated forms of spastic paraplegia.
Magariello A et al.
Journal of the Neurological Sciences, 2010
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 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
Clinical features of hereditary spastic paraplegia due to spastin mutation.
McDermott CJ et al.
Neurology, 2006