Associated Papers
Spastic paraplegia type 76 due to novel CAPN1 mutations: three case reports with literature review.
Zhu Z et al.
Neurogenetics, 2023
Clinical and genetic characterization of a Taiwanese cohort with spastic paraparesis combined with cerebellar involvement.
Lan MY et al.
Frontiers in Neurology, 2022
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
Generation of an integration-free induced pluripotent stem cell line, FJMUi001-A, from a hereditary spastic paraplegia patient carrying compound heterozygous p.P498L and p.R618W mutations in CAPN1 (SPG76).
Lu YQ et al.
Stem Cell Research, 2019
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