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
Diagnostic Yield of Whole Exome Sequencing for Adults with Ataxia: a Brazilian Perspective.
da Graça FF et al.
Cerebellum (london, England), 2022
Clinical and molecular characterization of a large cohort of childhood onset hereditary spastic paraplegias.
Giordani GM et al.
Scientific Reports, 2021
34782662 (PubMed )
Supplement: 41598_2021_1635_MOESM2_ESM.xlsx › Plan1
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
RCL1 copy number variants are associated with a range of neuropsychiatric phenotypes.
Brownstein CA et al.
Molecular Psychiatry, 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
SPG76: An extremely rare hereditary spastic paraplegia with a new expanding complicated phenotype.
Souza PVS et al.
Revue Neurologique, 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
A Novel CAPN1 Mutation Causes a Pure Hereditary Spastic Paraplegia in an Italian Family.
Cotti Piccinelli S et al.
Frontiers in Neurology, 2019
CAPN1 Variants as Cause of Hereditary Spastic Paraplegia Type 76.
Garcia-Berlanga JE et al.
Case Reports in Neurological Medicine, 2019
Clinical aspects of hereditary spastic paraplegia 76 and novel CAPN1 mutations.
Melo US et al.
Clinical Genetics, 2018
Homozygous CAPN1 mutations causing a spastic-ataxia phenotype in 2 families.
Kocoglu C et al.
Neurology. Genetics, 2018
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