Associated Papers
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
High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families.
Benkirane M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
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