Seemingly dominant inheritance of a recessive ANO10 mutation in romani families with cerebellar ataxia
- PMID: 27787937
- DOI: 10.1002/mds.26816
Seemingly dominant inheritance of a recessive ANO10 mutation in romani families with cerebellar ataxia
Keywords: ANO10; autosomal recessive cerebellar ataxia; founder mutation; genotype-phenotype correlation; whole-exome sequencing.
Similar articles
-
ANO10 mutational screening in recessive ataxia: genetic findings and refinement of the clinical phenotype.J Neurol. 2019 Feb;266(2):378-385. doi: 10.1007/s00415-018-9141-z. Epub 2018 Dec 4. J Neurol. 2019. PMID: 30515630
-
Autosomal recessive spino-cerebellar ataxia type 10 (SCAR10): clinical presentation associated with c.289delA ANO10 gene variant.Neurol Sci. 2024 Mar;45(3):1283-1286. doi: 10.1007/s10072-023-07104-0. Epub 2023 Oct 19. Neurol Sci. 2024. PMID: 37853290 No abstract available.
-
ANO10 c.1150_1151del is a founder mutation causing autosomal recessive cerebellar ataxia in Roma/Gypsies.J Neurol. 2012 May;259(5):906-11. doi: 10.1007/s00415-011-6276-6. Epub 2011 Oct 19. J Neurol. 2012. PMID: 22008874
-
Recent advances in the genetics of cerebellar ataxias.Curr Neurol Neurosci Rep. 2012 Jun;12(3):227-36. doi: 10.1007/s11910-012-0267-6. Curr Neurol Neurosci Rep. 2012. PMID: 22527681 Review.
-
[Autosomal recessive spinocerebellar ataxias in Japan].Rinsho Shinkeigaku. 2016 Jun 22;56(6):395-9. doi: 10.5692/clinicalneurol.cn-000879. Epub 2016 May 14. Rinsho Shinkeigaku. 2016. PMID: 27181749 Review. Japanese.
Cited by
-
Autosomal Recessive Spinocerebellar Ataxia Caused by a Novel Homozygous ANO10 Mutation in a Consanguineous Chinese Family.J Clin Neurol. 2020 Apr;16(2):333-335. doi: 10.3988/jcn.2020.16.2.333. J Clin Neurol. 2020. PMID: 32319254 Free PMC article. No abstract available.
-
ANO10 mutational screening in recessive ataxia: genetic findings and refinement of the clinical phenotype.J Neurol. 2019 Feb;266(2):378-385. doi: 10.1007/s00415-018-9141-z. Epub 2018 Dec 4. J Neurol. 2019. PMID: 30515630
-
Inducible and reversible phenotypes in a novel mouse model of Friedreich's Ataxia.Elife. 2017 Dec 19;6:e30054. doi: 10.7554/eLife.30054. Elife. 2017. PMID: 29257745 Free PMC article.
-
CHARON: An Imaging-Based Diagnostic Algorithm to Navigate Through the Sea of Hereditary Degenerative Ataxias.Cerebellum. 2024 Oct;23(5):2122-2129. doi: 10.1007/s12311-024-01677-y. Epub 2024 Mar 4. Cerebellum. 2024. PMID: 38436911 Free PMC article. Review.
-
Conventional MRI findings in hereditary degenerative ataxias: a pictorial review.Neuroradiology. 2021 Jul;63(7):983-999. doi: 10.1007/s00234-021-02682-2. Epub 2021 Mar 17. Neuroradiology. 2021. PMID: 33733696 Free PMC article. Review.
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Other Literature Sources
