논문KCI 등재
Autosomal Recessive Spinocerebellar Ataxia Caused by a Novel Homozygous ANO10 Mutation in a Consanguineous Chinese Family
대한신경과학회 (Korean Neurological Association)|2020.04|Journal of Clinical Neurology|제16권 제2호|pp. 333-335
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참고문헌 (8)
- Vermeer S, "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, 87, pp.813~819 (2010)
- Maruyama H, "Exome sequencing reveals a novel ANO10 mutation in a Japanese patient with autosomal recessive spinocerebellar ataxia", Clin Genet, 85, pp.296~297 (2014)
- Wanitchakool P, "Cellular defects by deletion of ANO10 are due to deregulated local calcium signaling", Cell Signal, 30, pp.41~49 (2017)
- Richards S, "Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for molecular pathology", Genet Med, 17, pp.405~424 (2015)
- Nanetti L, "ANO10 mutational screening in recessive ataxia : genetic findings and refinement of the clinical phenotype", J Neurol, 266, pp.378~385 (2019)
- Renaud M, "Autosomal recessive cerebellar ataxia type 3 due to ANO10 mutations : delineation and genotype-phenotype correlation study", JAMA Neurol, 71, pp.1305~1310 (2014)
- Chamova T, "ANO10 c.1150_1151del is a founder mutation causing autosomal recessive cerebellar ataxia in Roma", Gypsies, 2012, pp.259, 906~911
- Mišković ND, "Seemingly dominant inheritance of a recessive ANO10 mutation in romani families with cerebellar ataxia", Mov Disord, 31, pp.1929~1931 (2016)
관련 논문AI추천
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