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
Three Iranian patients with rare subtypes of hereditary spastic paraplegia (HSP): SPG76, SPG56, and SPG69.
Sadr Z et al.
Neurogenetics, 2024
Clinical and genetic analyses of a Swedish patient series diagnosed with ataxia.
Gorcenco S et al.
Journal of Neurology, 2024
Spastic paraplegia type 76 due to novel CAPN1 mutations: three case reports with literature review.
Zhu Z et al.
Neurogenetics, 2023
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
CAPN1 mutations: Expanding the CAPN1-related phenotype: From hereditary spastic paraparesis to spastic ataxia.
Shetty A et al.
European Journal of Medical Genetics, 2019
[Clinical features and C12orf65 mutations of autosomal recessive spastic paraplegia-55: a case report].
Lin SZ et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 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
Clinical features and genetic spectrum in Chinese patients with recessive hereditary spastic paraplegia.
Wei Q et al.
Translational Neurodegeneration, 2019
CAPN1 Variants as Cause of Hereditary Spastic Paraplegia Type 76.
Garcia-Berlanga JE et al.
Case Reports in Neurological Medicine, 2019
CAPN1 mutations are associated with a syndrome of combined spasticity and ataxia.
Tadic V et al.
Journal of Neurology, 2017
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