Results 141 to 150 of about 39,732 (154)

Paramyotonia congenita and hypokalemic periodic paralysis in a family with mutation p.R1448H in α-subunit type IV of voltage gated sodium channel gene

, 2019
Xue-Qi Pan, Wei Zhang, Xue-Li Chang, Jing Zhang, Hua-Xing Meng, Jun-Hong Guo   +5 more
semanticscholar   +1 more source

Paramyotonia congenita (Eulenburg): clinical, neurophysiological and muscle biopsy observations in a Swedish family

Acta Neurologica Scandinavica, 1993
Lars Larsson, Lars Edstrom, K Borg
exaly  

A SCN4A mutation causing paramyotonia congenita.

Neuromuscular Disorders, 2017
C. Palma, C. Prior, Clara Gómez-González, C. Rodríguez-Antolín, Paloma Martínez-Montero, Lucía Pérez de Ayala, S. I. Pascual, Jesús Molano Mateos   +7 more
semanticscholar   +1 more source

Paramyotonia congenita: From clinical diagnosis to in silico protein modeling analysis

Pediatrics International, 2012
Dian K Nurputra, Masafumi Matsuo, Hisahide Nishio   +2 more
exaly  

[Paramyotonia congenita caused by a novel mutation of SCN4A gene in a Chinese family].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2016
Wen Li, Qian-Ting Chen, Qian-Jun Zhang, Xiurong Li, Juan Du   +4 more
semanticscholar   +1 more source

Caesarean Section in a Patient with Paramyotonia Congenita

Anaesthesia and Intensive Care, 1998
exaly  

Skeletal muscle in paramyotonia congenita: biochemistry, histochemistry and morphology

Acta Neurologica Scandinavica, 2009
Olaf B. Paulson
exaly  

The anesthetic propofol modulates gating in paramyotonia congenita mutant muscle sodium channels

Muscle and Nerve, 2001
Reinhard Dengler, Bahram Mohammadi, M Leuwer   +2 more
exaly  

Lupus anticoagulant, paramyotonia congenita and pregnancy

Canadian Journal of Anaesthesia, 1992
M Joanne Douglas, M J Douglas
exaly  

Sodium channel mutations in paramyotonia congenita uncouple inactivation from activation

Neuron, 1994
Alfred L George, Mohamed Chahine, Robert L Barchi   +2 more
exaly