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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: | , , , , , , , |
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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 |
| _version_ | 1783619460444192768 |
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| author | Penkava, Josef Ledderose, S. Chahrokh-Zadeh, S. Munzig, A. Eulenburg, zu Huppert, D. Strupp, M. Becker-Bense, S. |
| author_facet | Penkava, Josef Ledderose, S. Chahrokh-Zadeh, S. Munzig, A. Eulenburg, zu Huppert, D. Strupp, M. Becker-Bense, S. |
| author_sort | Penkava, Josef |
| collection | PubMed |
| description | |
| format | Online Article Text |
| id | pubmed-7718184 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2020 |
| publisher | Springer Berlin Heidelberg |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-77181842020-12-11 A novel pathogenic CACNA1A variant causing episodic ataxia type 2 (EA2) spectrum phenotype in four family members and a novel combined therapy Penkava, Josef Ledderose, S. Chahrokh-Zadeh, S. Munzig, A. Eulenburg, zu Huppert, D. Strupp, M. Becker-Bense, S. J Neurol Letter to the Editors Springer Berlin Heidelberg 2020-09-10 2020 /pmc/articles/PMC7718184/ /pubmed/32910250 http://dx.doi.org/10.1007/s00415-020-10190-1 Text en © The Author(s) 2020 Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. |
| spellingShingle | Letter to the Editors Penkava, Josef Ledderose, S. Chahrokh-Zadeh, S. Munzig, A. Eulenburg, zu Huppert, D. Strupp, M. Becker-Bense, S. A novel pathogenic CACNA1A variant causing episodic ataxia type 2 (EA2) spectrum phenotype in four family members and a novel combined therapy |
| title | A novel pathogenic CACNA1A variant causing episodic ataxia type 2 (EA2) spectrum phenotype in four family members and a novel combined therapy |
| title_full | A novel pathogenic CACNA1A variant causing episodic ataxia type 2 (EA2) spectrum phenotype in four family members and a novel combined therapy |
| title_fullStr | A novel pathogenic CACNA1A variant causing episodic ataxia type 2 (EA2) spectrum phenotype in four family members and a novel combined therapy |
| title_full_unstemmed | A novel pathogenic CACNA1A variant causing episodic ataxia type 2 (EA2) spectrum phenotype in four family members and a novel combined therapy |
| title_short | A novel pathogenic CACNA1A variant causing episodic ataxia type 2 (EA2) spectrum phenotype in four family members and a novel combined therapy |
| title_sort | novel pathogenic cacna1a variant causing episodic ataxia type 2 (ea2) spectrum phenotype in four family members and a novel combined therapy |
| topic | Letter to the Editors |
| url | 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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