Associated Papers
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG76
CAPN1 and hereditary spastic paraplegia: a novel variant in an Iranian family and overview of the genotype-phenotype correlation.
Rahimi Bidgoli MM et al.
The International Journal of Neuroscience, 2021
Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations.
Méreaux JL et al.
Neurogenetics, 2021
Novel CAPN1 mutations extend the phenotypic heterogeneity in combined spastic paraplegia and ataxia.
Lai LL et al.
Annals of Clinical and Translational Neurology, 2020
Increased Diagnostic Yield of Spastic Paraplegia with or Without Cerebellar Ataxia Through Whole-Genome Sequencing.
Kim A et al.
Cerebellum (london, England), 2019
Two novel homozygous mutations of CAPN1 in Chinese patients with hereditary spastic paraplegia and literatures review.
Peng F et al.
Orphanet Journal of Rare Diseases, 2019
Defects in the CAPN1 Gene Result in Alterations in Cerebellar Development and Cerebellar Ataxia in Mice and Humans.
Wang Y et al.
Cell Reports, 2016
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