Journal article
A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era
- Abstract:
-
Background: Congenital myasthenic syndromes (CMS) are a heterogeneous group of inherited neuromuscular disorders sharing the common feature of fatigable weakness due to defective neuromuscular transmission. Despite rapidly increasing knowledge about the genetic origins, specific features and potential treatments for the known CMS entities, the lack of standardized classification at the most granular level has hindered the implementation of computer-base...
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- Publication status:
- Published
- Peer review status:
- Peer reviewed
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Funding
Bibliographic Details
- Publisher:
- BioMed Central Publisher's website
- Journal:
- Orphanet Journal of Rare Diseases Journal website
- Volume:
- 13
- Article number:
- 211
- Publication date:
- 2018-11-26
- Acceptance date:
- 2018-11-14
- DOI:
- EISSN:
-
1750-1172
- Pmid:
-
30477555
Item Description
- Language:
- English
- Keywords:
- Pubs id:
-
pubs:949055
- UUID:
-
uuid:40259eef-e12d-4012-9fb5-8cf368643c47
- Local pid:
- pubs:949055
- Source identifiers:
-
949055
- Deposit date:
- 2019-07-03
Terms of use
- Copyright holder:
- Thompson et al
- Copyright date:
- 2018
- Notes:
- © The Authors 2018. This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
- Licence:
- CC Attribution (CC BY)
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