Homozygous CAPN1 mutations causing a spastic-ataxia phenotype in 2 families

Lignende værker

• Phenotypic and Genotypic Analysis of Hereditary Ataxia Patients in Sakarya City, Turkey
  af: Sayan, Saadet, et al.
  Udgivet: (2018)
• Two novel homozygous mutations of CAPN1 in Chinese patients with hereditary spastic paraplegia and literatures review
  af: Peng, Fang, et al.
  Udgivet: (2019)
• A Novel Homozygous CAPN1 Pathogenic Variant in a Chinese Patient with Pure Hereditary Spastic Paraplegia
  af: Chen, You, et al.
  Udgivet: (2019)
• ERLIN1 mutations cause teenage-onset slowly progressive ALS in a large Turkish pedigree
  af: Tunca, Ceren, et al.
  Udgivet: (2018)
• Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia
  af: Gan-Or, Ziv, et al.
  Udgivet: (2016)