Results 101 to 110 of about 1,313 (165)

Anaesthetic management of paramyotonia congenita with myoadenylate deaminase deficiency - A case report.

Indian Journal of Anaesthesia, 2005
Muralidhar V, Anand S
doaj  

Autosomal Recessive Becker's Form of Myotonia Congenita in Indian Families. [PDF]

Cureus
Krovvidi S, Nelakurthi S, Gedela M, Singamsetty S, Bhimireddy V.   +4 more
europepmc   +1 more source

Sodium channelopathies of skeletal muscle result from gain or loss of function [PDF]

A Kuzmenkin, A Tsujino, AF Struyk, AG Engel, B Fontaine, B Fontaine, B Mohammadi, B Mohammadi, Boris Holzherr, BW Jarecki, CV Rojas, D Tricarico, D Tricarico, DE Featherstone, E Alfonsi, F Bezanilla, F Lehmann-Horn, F Lehmann-Horn, F Lehmann-Horn, F Lehmann-Horn, F Tombola, F Tombola, FF Wu, Frank Lehmann-Horn, H Lerche, H Lerche, H Mil van, IW Glaaser, J Siegenbeek van Heukelom, J Webb, JW West, JZ Wang, K Jurkat-Rott, K Jurkat-Rott, K Jurkat-Rott, K Jurkat-Rott, K Ricker, Karin Jurkat-Rott, L Goldman, LJ Hayward, LL Isom, M Bouhours, M Chahine, MA Weber, MC Koch, Michael Fauler, MO Popa, MS Dice, N Mitrovic, N Mitrovic, N Yang, PM Vassilev, R Fleischhauer, R Heine, R Rudel, RH Adrian, RH Wallace, RJ Geukes Foppen, RL Ruff, RL Ruff, S Petitprez, S Sokolov, S Vicart, S Wagner, SC Cannon, T Kubota, V Vedantham, YY Vilin   +67 more
core   +1 more source

Paramyotonia congenita of Von Eulenburg [PDF]

, 2020
openaire   +1 more source

Discovery and Treatment of Action Potential-Independent Myotonia in Hyperkalemic Periodic Paralysis. [PDF]

Ann Clin Transl Neurol
Dupont C, Deardorff A, Nawaz M, Voss AA, Rich MM.   +4 more
europepmc   +1 more source

Severe Adult-Onset Non-Dystrophic Myotonia With Apnea and Laryngospasm Due to Digenic Inheritance of SCN4A and CLCN1 Variants: A Case Report. [PDF]

Neurol Genet
Tugizova M, Margeta M, Richie M, Pet D, Rosow L, Terrelonge M, Ralph JW.   +6 more
europepmc   +1 more source

Pharmacological therapy of non-dystrophic myotonias. [PDF]

Acta Myol
Saltarella I, Laghetti P, Dell'Atti S, Altamura C, Desaphy JF.   +4 more
europepmc   +1 more source

Dynamic MR of Muscle Contraction During Electrical Muscle Stimulation: Potential Application to the Evaluation of Neuromuscular Diseases. [PDF]

NMR Biomed
Santini F, Croce MG, Deligianni X, Maggioni MB, Paoletti M, Barzaghi L, Bergsland N, Faggioli A, Manco G, Bonizzoni C, Jin N, Ravaglia S, Pichiecchio A.   +12 more
europepmc   +1 more source

Myotonia Congenita in Australian Merino Sheep with a Missense Variant in CLCN1. [PDF]

Animals (Basel)
Manning LK, Eager KLM, Willet CE, Slattery S, McNally JH, Spiers ZB, Hazelton M, Child G, Duggan R, O'Rourke BA, Tammen I.   +10 more
europepmc   +1 more source

Paramyotonia Congenita without Cold Paralysis [PDF]

, 2020
openaire   +1 more source