Associated Papers
Autosomal recessive spino-cerebellar ataxia type 10 (SCAR10): clinical presentation associated with c.289delA ANO10 gene variant.
Norata D et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 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
Diagnostic Efficacy of Genetic Studies in a Series of Hereditary Cerebellar Ataxias in Eastern Spain.
Baviera-Muñoz R et al.
Neurology. Genetics, 2022
Autosomal Recessive Spinocerebellar Ataxia Type 10: A Report of a New Case in Japan.
Aida I et al.
Internal Medicine (tokyo, Japan), 2022
NGS in Hereditary Ataxia: When Rare Becomes Frequent.
Galatolo D et al.
International Journal of Molecular Sciences, 2021
TMEM16K is an interorganelle regulator of endosomal sorting.
Petkovic M et al.
Nature Communications, 2020
The structural basis of lipid scrambling and inactivation in the endoplasmic reticulum scramblase TMEM16K.
Bushell SR et al.
Nature Communications, 2019
ANO10 mutational screening in recessive ataxia: genetic findings and refinement of the clinical phenotype.
Nanetti L et al.
Journal of Neurology, 2019
Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases.
Mallaret M et al.
Journal of Neurology, 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
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