The Phenotypic Spectrum of Spinocerebellar Ataxia Type 19 in a Series of Latin American Patients
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Publisher
Springer Science and Business Media LLC
Link
https://link.springer.com/content/pdf/10.1007/s12311-023-01654-x.pdf
Reference16 articles.
1. Baviera-Muñoz R, et al. Diagnostic efficacy of genetic studies in a series of hereditary cerebellar ataxias in Eastern Spain. Neuro Gen. 2022;8(6):e200038. https://doi.org/10.1212/NXG.0000000000200038.
2. Clatot J, et al. Inter-regulation of Kv4.3 and voltage-gated sodium channels underlies predisposition to cardiac and neuronal channelopathies. Int J Mol Sci. 2020;21(14):5057. https://doi.org/10.3390/ijms21145057.
3. Coutelier M, et al. Genetic landscape remodelling in spinocerebellar ataxias: the influence of next-generation sequencing. J Neurol. 2015;262:2382–95. https://doi.org/10.1007/s00415-015-7725-4.
4. Duarri A, et al. Spinocerebellar ataxia type 19/22 mutations alter heterocomplex Kv4.3 channel function and gating in a dominant manner. Cellul Mol Life Sci: CMLS. 2015;72(17):3387–99. https://doi.org/10.1007/s00018-015-1894-2.
5. Hsiao C-T, et al. Novel SCA19/22-associated KCND3 mutations disrupt human K V 4.3 protein biosynthesis and channel gating. Hum Mutat. 2019;40 https://doi.org/10.1002/humu.23865.
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