Associated Papers
Novel CWF19L1 mutations in patients with spinocerebellar ataxia, autosomal recessive 17.
Phulpagar P et al.
Journal of Human Genetics, 2023
Expansion of the phenotypic and molecular spectrum of CWF19L1-related disorder.
Alvarez C et al.
Clinical Genetics, 2023
Heterozygous pathogenic variants in CWF19L1 in a Chinese family with spinocerebellar ataxia, autosomal recessive 17.
Ruan M et al.
Journal of Clinical Laboratory Analysis, 2022
A Novel Variant in CWF19L1 Gene in a Family with Late-Onset Autosomal Recessive Cerebellar Ataxia 17.
Algahtani H et al.
Neurological Research, 2021
Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause.
Theunissen TEJ et al.
Frontiers in Genetics, 2018
Exome sequencing reveals a novel CWF19L1 mutation associated with intellectual disability and cerebellar atrophy.
Evers C et al.
American Journal of Medical Genetics. Part A, 2016
Pathogenic CWF19L1 variants as a novel cause of autosomal recessive cerebellar ataxia and atrophy.
Nguyen M et al.
European Journal of Human Genetics : Ejhg, 2016
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