Novel CWF19L1 mutations in patients with spinocerebellar ataxia, autosomal recessive 17
Author:
Funder
DST | Science and Engineering Research Board
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
https://www.nature.com/articles/s10038-023-01195-5.pdf
Reference23 articles.
1. Jayadev S, Bird TD. Hereditary ataxias: overview. Genet Med. 2013;15:673–83.
2. Nguyen M, Boesten I, Hellebrekers DM, Vanoevelen J, Kamps R, de Koning B, et al. Pathogenic CWF19L1 variants as a novel cause of autosomal recessive cerebellar ataxia and atrophy. Eur J Hum Genet. 2016;24:619–22.
3. Burns R, Majczenko K, Xu J, Peng W, Yapici Z, Dowling JJ, et al. Homozygous splice mutation in CWF19L1 in a Turkish family with recessive ataxia syndrome. Neurology 2014;83:2175–82.
4. Evers C, Kaufmann L, Seitz A, Paramasivam N, Granzow M, Karch S, et al. Exome sequencing reveals a novel CWF19L1 mutation associated with intellectual disability and cerebellar atrophy. Am J Med Genet A 2016;170:1502–9.
5. Algahtani H, Shirah B, Almatrafi S, Al-Qahtani MH, Abdulkareem AA, Naseer MI. A novel variant in CWF19L1 gene in a family with late-onset autosomal recessive cerebellar Ataxia 17. Neurol Res. 2021;43:141–7.
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