Results 111 to 120 of about 11,146 (222)
Incorporation of two terminology projects into a system for information retrieval using NLP for term expansion [PDF]
In this paper, we will discuss two medical terminology projects at the University College of Ghent, Faculty of translation studies, and the benefits of combining them to provide Dutch professionals and laymen with better access to information in ...
Van Wiele, Kurt, Vanopstal, Klaar
core +1 more source
MiRP2 forms potassium channels in skeletal muscle with Kv3.4 and is associated with periodic paralysis. [PDF]
The subthreshold, voltage-gated potassium channel of skeletal muscle is shown to contain MinK-related peptide 2 (MiRP2) and the pore-forming subunit Kv3.4.
Abbott, GW +5 more
core
Fatigue-inducing stimulation resolves myotonia in a drug-induced model [PDF]
Erik van Lunteren +2 more
core +1 more source
A Novel Missense Mutation in CLCN1 Gene in a Family with Autosomal Recessive Congenital Myotonia
Congenital recessive myotonia is a rare genetic disorder caused by mutations in CLCN1, which codes for the main skeletal muscle chloride channel ClC-1. More than 120 mutations have been found in this gene.
Mohammad Miryounesi +2 more
doaj
Sodium channelopathies of skeletal muscle result from gain or loss of function [PDF]
Karin Jurkat-Rott +3 more
core +1 more source
Clinical features and advances in the genetics of periodic paralysis. [PDF]
Luo M, Liu B, Xu J, Meng D.
europepmc +1 more source
Fading Muscle and a Flaccid Bladder: Atonic Bladder in a Case of Myotonic Dystrophy-A Case Report. [PDF]
Ravichandran PY, R K, Madhavan K.
europepmc +1 more source

