Musculoskeletal Features without Ataxia Associated with a Novel de novo Mutation in
KCNA1
ataxia
creatine kinase
molecular modeling
muscle hypertrophy
myokymia
neuromyotonia
patch clamp
Journal
Biomedicines
ISSN: 2227-9059
Titre abrégé: Biomedicines
Pays: Switzerland
ID NLM: 101691304
Informations de publication
Date de publication:
14 Jan 2021
14 Jan 2021
Historique:
received:
30
11
2020
revised:
02
01
2021
accepted:
06
01
2021
entrez:
20
1
2021
pubmed:
21
1
2021
medline:
21
1
2021
Statut:
epublish
Résumé
The
Identifiants
pubmed: 33466780
pii: biomedicines9010075
doi: 10.3390/biomedicines9010075
pmc: PMC7829709
pii:
doi:
Types de publication
Journal Article
Langues
eng
Subventions
Organisme : Ataxia UK
ID : grant 2018 to P.I.
Organisme : University of Bari
ID : (Fondi di Ateneo 2017-2018) to P.I. and J.-F.D
Organisme : Canadian Institutes for Health Research (CIHR)
ID : Grant PJT-169160 to R.B.
Organisme : Natural Sciences and Engineering Research Council (NSERC)
ID : Grant RGPIN-2017-06871 to R.B.
Organisme : AFM
ID : (grant 22431) to C.F.
Organisme : Telethon
ID : (grant GUP19002) to C.F.
Pays : Italy
Organisme : Malta Council for Science and Technology
ID : Grant BooKind E20LG42 to M.C.D.A.
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