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A novel pathogenic CACNA1A variant causing episodic ataxia type 2 (EA2) spectrum phenotype in four family members and a novel combined therapy
Autores principales: | Penkava, Josef, Ledderose, S., Chahrokh-Zadeh, S., Munzig, A., Eulenburg, zu, Huppert, D., Strupp, M., Becker-Bense, S. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer Berlin Heidelberg
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7718184/ https://www.ncbi.nlm.nih.gov/pubmed/32910250 http://dx.doi.org/10.1007/s00415-020-10190-1 |
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