Journal article icon

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...

Expand abstract
Publication status:
Published
Peer review status:
Peer reviewed

Actions


Access Document


Files:
Publisher copy:
10.1186/s13023-018-0955-7

Authors


More by this author
Role:
Author
ORCID:
0000-0002-6889-0121
More by this author
Institution:
University of Oxford
Division:
MSD
Department:
Clinical Neurosciences
Oxford college:
St Cross College
Role:
Author
Expand authors...
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
Source identifiers:
949055
Language:
English
Keywords:
Pubs id:
pubs:949055
UUID:
uuid:40259eef-e12d-4012-9fb5-8cf368643c47
Local pid:
pubs:949055
Deposit date:
2019-07-03

Terms of use


Views and Downloads






If you are the owner of this record, you can report an update to it here: Report update to this record

TO TOP