ANO10

Publications

Vermeer S et al. Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia. Am J Hum Genet 2010;87:813-819. doi:S0002-9297(10)00531-8 [pii]10.1016/j.ajhg.2010.10.015

Renaud M et al. Autosomal recessive cerebellar ataxia type 3 due to ANO10 mutations: delineation and genotype-phenotype correlation study. JAMA Neurol 2014;71:1305-1310. doi:10.1001/jamaneurol.2014.193

Chrysanthou et al. ANO10 Function in Health and Disease. Cerebellum 2023;22:447-467. doi:10.1007/s12311-022-01395-3

Bushell SR et al. The structural basis of lipid scrambling and inactivation in the endoplasmic reticulum scramblase TMEM16K. Nat Commun 2019;10:3956. doi:10.1038/s41467-019-11753-1

Balreira A et al. ANO10 mutations cause ataxia and coenzyme Q(1)(0) deficiency. J Neurol 2014;261:2192-2198. doi:10.1007/s00415-014-7476-7

Chamova T et al. ANO10 c.1150_1151del is a founder mutation causing autosomal recessive cerebellar ataxia in Roma/Gypsies. J Neurol 2012;259:906-911. doi:10.1007/s00415-011-6276-6

Nieto A et al. Cognitive characterization of SCAR10 caused by a homozygous c.132dupA mutation in the ANO10 gene. Neurocase 2019;25:195-201. doi:10.1080/13554794.2019.1655064

de Silva R et al. Guidelines on the diagnosis and management of the progressive ataxias. Orphanet J Rare Dis 2019;14:51. doi:10.1186/s13023-019-1013-9

Maruyama H et al. Exome sequencing reveals a novel ANO10 mutation in a Japanese patient with autosomal recessive spinocerebellar ataxia. Clin Genet 2014;85:296-297. doi:10.1111/cge.12140

Yang SL et al. Autosomal Recessive Spinocerebellar Ataxia Caused by a Novel Homozygous ANO10 Mutation in a Consanguineous Chinese Family. J Clin Neurol 2020;16:333-335. doi:10.3988/jcn.2020.16.2.333