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
Real-world evaluation of gnomAD variant co-occurrence information for haplotype phasing in autosomal recessive disorders.
Kim J et al.
Human Genomics, 2025
Estimating the Prevalence of Autosomal Recessive Neuromuscular Diseases in the Korean Population.
Kim SH et al.
Journal of Korean Medical Science, 2025
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
Genetic analysis of 280 children with unexplained developmental delay or intellectual disability using whole exome sequencing.
Xu J et al.
Bmc Pediatrics, 2024
Syringomyelia: A New Phenotype of SPG11-Related Hereditary Spastic Paraplegia?
Kim GH et al.
Brain & Neurorehabilitation, 2023
Clinical analysis in patients with SPG11 hereditary spastic paraplegia.
Kang YR et al.
Frontiers in Neurology, 2023
Genetic, clinical and neuroimaging profiles of sporadic and autosomal recessive hereditary spastic paraplegia cases in Chinese.
Dong Y et al.
Neuroscience Letters, 2021
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 2021
Clarification of undiagnosed ataxia using whole-exome sequencing with clinical implications.
Kim M et al.
Parkinsonism & Related Disorders, 2020
Chinese families with autosomal recessive hereditary spastic paraplegia caused by mutations in SPG11.
Chen X et al.
Bmc Neurology, 2020
Clinical spectrum and genetic landscape for hereditary spastic paraplegias in China.
Dong EL et al.
Molecular Neurodegeneration, 2018
Identification of novel SPG11 mutations in a cohort of Chinese families with hereditary spastic paraplegia.
Du J et al.
The International Journal of Neuroscience, 2018
[Molecular diagnosis of children with unexplained intellectual disability/ developmental delay by array-CGH].
He XY et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2015
Identification of sequence variants in genetic disease-causing genes using targeted next-generation sequencing.
Wei X et al.
Plos One, 2011
Novel SPG11 mutations in Asian kindreds and disruption of spatacsin function in the zebrafish.
Southgate L et al.
Neurogenetics, 2010
Novel compound heterozygous mutations of the SPG11 gene in Korean families with hereditary spastic paraplegia with thin corpus callosum.
Kim SM et al.
Journal of Neurology, 2009
Novel mutations of the SPG11 gene in hereditary spastic paraplegia with thin corpus callosum.
Liao SS et al.
Journal of the Neurological Sciences, 2008