Results 141 to 150 of about 3,302 (205)

Clinical Utility Gene Card for: autosomal dominant myotonia congenita (Thomsen Disease). [PDF]

Eur J Hum Genet, 2018
Coote DJ, Davis MR, Cabrera M, Needham M, Laing NG, Nowak KJ.   +5 more
europepmc   +1 more source

Neurological perspectives on voltage-gated sodium channels [PDF]

, 2016
Abrahamsen, Akopian, Akopian, Alabi, Alzheimer, Amaya, Aurlien, Baker, Baker, Bennett, Beyreuther, Beyreuther, Beyreuther, Binshtok, Binshtok, Biton, Black, Black, Black, Black, Bohle, Bosmans, Brackenbury, Brittain, Bromley, Burge, Calabresi, Campbell, Cannon, Cardenas, Carrithers, Carter, Cattaneo, Catterall, Catterall, Cestele, Chambers, Chen, Cheung, Chioni, Choi, Chong, Clare, Conway, Corry, Cossette, Cox, Cox, Cummins, Cummins, Devor, Dib-Hajj, Dib-Hajj, Dib-Hajj, Dib-Hajj, Dib-Hajj, Dib-Hajj, Dichgans, Diss, Doty, Drizin, Durham, Ebell, Escayg, Estacion, F. Rugiero, Fang, Fertleman, Fink, Fischer, Fischer, Fraser, Fraser, French, Ganjehei, Garrido, Gasser, Giardina, Goldberg, Graff-Radford, Grieco, Haimovich, Hains, Hains, Hakim, Harmer, Hasegawa, Hedstrom, Herfst, Hernandez-Plata, Heron, Hewitt, Hille, Hiyama, Holland, Hollmann, Hoyt, Hsueh, Huth, Iqbal, Isom, Isom, J. E. Linley, J. N. Wood, Jang, Jarecki, Jiang, Jiang, Joshi, Jurkat-Rott, Kalra, Kalume, Kapoor, Kapoor, Kapplinger, Kearney, Kerr, Khasar, Khoromi, Kort, Kudrow, Kuhnert, Kyndt, Lai, Lamas, Lampl, Leo, Leterrier, Liao, Lim, Lin, Lindia, Liu, London, Lopez-Santiago, Lopez-Santiago, M. D. Baker, M. S. Minett, Mackenzie, Maitre, Mantegazza, Mao, Marini, McGowan, Meisler, Meisler, Minett, Misra, Mohammadi, Muth-Selbach, N. Eijkelkamp, Nalamachu, Nassar, Nassar, Nattel, Naylor, Nuyens, O'Malley, O'Roak, O'Roak, Okuse, Onkalp, Ou, Oyama, Padilla, Patino, Patino, Patino, Patlak, Payandeh, Payandeh, Pertin, Perucca, Pittenger, Planells-Cases, Poolos, Poon, Priest, Pt  cek, R. Cregg, R. Werdehausen, Ragsdale, Ragsdale, Ragsdale, Rajakulendran, Raman, Rauck, Renganathan, Rivera-Acevedo, Roberson, Robinson, Rogart, Rogawski, Ruetsch, Rugiero, Rusconi, Saenen, Sanders, Schwarz, Schwindt, Shank, Shao, Shao, Sijben, Smith, Sokolov, Song, Spampanato, Starmer, Stefani, Stevens, Stummann, Stys, St  hmer, St  hr, Sugawara, Tan, Taverna, Toledo-Aral, Uebachs, Vahedi, Vassilev, Vassilev, Veeramah, Veneroni, Volkers, von Gunten, Wang, Wang, Wang, Watanabe, Watanabe, Waxman, Waxman, Weiser, Weiss, Weiss, Weiss, West, Westenbroek, Whitaker, Wimmer, Wood, Yang, Yu, Yu, Zimmer, Zimmermann   +247 more
core   +1 more source

A case report of recessive myotonia congenita and early onset cognitive impairment: Is it a causal or casual link? [PDF]

Medicine (Baltimore), 2018
Portaro S, Cacciola A, Naro A, Milardi D, Morabito R, Corallo F, Marino S, Bramanti A, Mazzon E, Calabrò RS.   +9 more
europepmc   +1 more source

A Large Dominant Myotonia Congenita Family with a V1293I Mutation in SCN4A. [PDF]

J Clin Neurol, 2016
Chung KW, Yoo DH, Lee SJ, Choi BO, Lee SS.   +4 more
europepmc   +1 more source

Myotonia congenita: novel mutations in CLCN1 gene. [PDF]

Channels (Austin), 2015
Liu XL, Huang XJ, Shen JY, Zhou HY, Luan XH, Wang T, Chen SD, Wang Y, Tang HD, Cao L.   +9 more
europepmc   +1 more source

Myotonia congenita (Thomsen's disease). (A case report)

The Turkish Journal of Pediatrics, 1968
V Baytok
doaj  

Electrophysiological characteristics of R47W and A298T mutations in CLC-1 of myotonia congenita patients and evaluation of clinical features. [PDF]

Korean J Physiol Pharmacol, 2017
Chin HJ, Kim CH, Ha K, Shin JH, Kim DS, So I.   +5 more
europepmc   +1 more source

The Overlap between Fibromyalgia Syndrome and Myotonia Congenita. [PDF]

J Clin Neurol, 2015
Nam TS, Choi SY, Park DJ, Lee SS, Kim YO, Kim MK.   +5 more
europepmc   +1 more source

Sodium channel slow inactivation as a therapeutic target for myotonia congenita. [PDF]

Ann Neurol, 2015
Novak KR, Norman J, Mitchell JR, Pinter MJ, Rich MM.   +4 more
europepmc   +1 more source

Anaesthesia for Paramyotonia Congenita: A Narrative Review. [PDF]

Cureus
Chee M, Thangavelautham S, Chen JH, Kothandan H.   +3 more
europepmc   +1 more source