Varaico: Literature-Extracted Genetic Variants

Gene:ANO10
Variant:p.L384delFs
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ANO10

NM_018075.5:p.L384delFs

Associated Papers

ANO10-Related Spinocerebellar Ataxia: MDSGene Systematic Literature Review and a Romani Case Series.

Milovanović A et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2024

ANO10 Function in Health and Disease.

Chrysanthou A et al.

Cerebellum (london, England), 2023

Expanding the Allelic Heterogeneity of ANO10-Associated Autosomal Recessive Cerebellar Ataxia.

Massey S et al.

Neurology. Genetics, 2023

Autosomal Recessive Spinocerebellar Ataxia Type 10: A Report of a New Case in Japan.

Aida I et al.

Internal Medicine (tokyo, Japan), 2022

Autosomal Recessive Spinocerebellar Ataxia Caused by a Novel Homozygous ANO10 Mutation in a Consanguineous Chinese Family.

Yang SL et al.

Journal of Clinical Neurology (seoul, Korea), 2020

Single-Nucleotide Polymorphisms Associated with the Senescence-Accelerated Phenotype of OXYS Rats: A Focus on Alzheimer's Disease-Like and Age-Related-Macular-Degeneration-Like Pathologies.

Devyatkin VA et al.

Journal of Alzheimer's Disease : Jad, 2020

Cognitive characterization of SCAR10 caused by a homozygous c.132dupA mutation in the ANO10 gene.

Nieto A et al.

Neurocase, 2019

Seemingly dominant inheritance of a recessive ANO10 mutation in romani families with cerebellar ataxia.

Mišković ND et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2016

Executive and Attentional Disorders, Epilepsy and Porencephalic Cyst in Autosomal Recessive Cerebellar Ataxia Type 3 Due to ANO10 Mutation.

Chamard L et al.

European Neurology, 2016

ANO10 mutations cause ataxia and coenzyme Q₁₀ deficiency.

Balreira A et al.

Journal of Neurology, 2014

'Cortical cerebellar atrophy' dwindles away in the era of next-generation sequencing.

Yoshida K et al.

Journal of Human Genetics, 2014

Exome sequencing reveals a novel ANO10 mutation in a Japanese patient with autosomal recessive spinocerebellar ataxia.

Maruyama H et al.

Clinical Genetics, 2014

ANO10 c.1150_1151del is a founder mutation causing autosomal recessive cerebellar ataxia in Roma/Gypsies.

Chamova T et al.

Journal of Neurology, 2012

Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia.

Vermeer S et al.

American Journal of Human Genetics, 2010

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