Results 151 to 160 of about 12,609 (254)

MYOTONIA

The Journal of Nervous and Mental Disease, 1939
openaire   +1 more source

A novel dominant mutation of the Na _v 1.4 α-subunit domain I leading to sodium channel myotonia

, 2008
Séverine Petitprez, Leila Tiab, Lie Chen, Laurent Kappeler, Kai M. Rösler, Daniel F. Schorderet, Hugues Abriel, J‐M. Burgunder   +7 more
openalex   +2 more sources

A review of the use of mexiletine in patients with myotonic dystrophy and non-dystrophic myotonia

European Journal of Hospital Pharmacy: Science and Practice, 2016
S. D'Mello, L. Shum
semanticscholar   +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

Elevated Levels of Active GSK3β in the Blood of Patients with Myotonic Dystrophy Type 1 Correlate with Muscle Weakness. [PDF]

Int J Mol Sci
Jennings K, Tian C, Brown RL, Horn PS, Schoser B, Kushlaf H, Timchenko NA, Timchenko L.   +7 more
europepmc   +1 more source

Multisystem Symptoms in Myotonic Dystrophy Type 1: A Management and Therapeutic Perspective. [PDF]

Int J Mol Sci
Kuntawala DH, Vitorino R, Cruz AC, Martins F, Rebelo S.   +4 more
europepmc   +1 more source

Case of Myotonia [PDF]

Proceedings of the Royal Society of Medicine, 1918
openaire   +2 more sources

ClC‐1 mutations in myotonia congenita patients: insights into molecular gating mechanisms and genotype–phenotype correlation

Journal of Physiology, 2015
P. Imbrici, L. Maggi, G. Mangiatordi, M. M. Dinardo, C. Altamura, R. Brugnoni, Domenico Alberga, G. L. Pinter, G. Ricci, G. Siciliano, R. Micheli, G. Annicchiarico, G. Lattanzi, O. Nicolotti, L. Morandi, P. Bernasconi, J. Desaphy, R. Mantegazza, D. Camerino   +18 more
semanticscholar   +1 more source

Unmasking MEGF10 Myopathy: A Rare Cause of Sudden Respiratory Failure in a Young Adult. [PDF]

Case Rep Neurol Med
Kleiser B, Hackenbruch L, Schittenhelm J, Bornemann A, Haack T, Grimm A, Martin P.   +6 more
europepmc   +1 more source

A Pediatric Case of Hypokalemic Periodic Paralysis With Fatigue and Myalgia. [PDF]

Cureus
Horie M, Fuchigami T, Kawaguchi T, Ishige M, Morioka I.   +4 more
europepmc   +1 more source