Autosomal recessive spino-cerebellar ataxia type 10 (SCAR10): clinical presentation associated with c.289delA ANO10 gene variant
Author:
Publisher
Springer Science and Business Media LLC
Subject
Psychiatry and Mental health,Neurology (clinical),Dermatology,General Medicine
Link
https://link.springer.com/content/pdf/10.1007/s10072-023-07104-0.pdf
Reference4 articles.
1. Chrysanthou A, Ververis A, Christodoulou K (2022) ANO10 function in health and disease. Cerebellum Lond Engl 22:447–467. https://doi.org/10.1007/s12311-022-01395-3
2. Nanetti L, Sarto E, Castaldo A et al (2019) ANO10 mutational screening in recessive ataxia: genetic findings and refinement of the clinical phenotype. J Neurol 266(2):378–385. https://doi.org/10.1007/s00415-018-9141-z
3. Paulino C, Kalienkova V, Lam AKM, Neldner Y, Dutzler R (2017) Activation mechanism of the calcium-activated chloride channel TMEM16A revealed by cryo-EM. Nature 552(7685):421–425. https://doi.org/10.1038/nature24652
4. Bodranghien F, Oulad Ben Taib N, Van Maldergem L, Manto M (2017) A postural tremor highly responsive to transcranial cerebello-cerebral DCS in ARCA3. Front Neurol 8:71. https://doi.org/10.3389/fneur.2017.00071
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