Results 81 to 90 of about 1,294 (180)

A VARIETY OF PARAMYOTONIA CONGENITA [PDF]

Journal of Neurology, Neurosurgery & Psychiatry, 1957
E B, FRENCH, R, KILPATRICK
openaire   +2 more sources

Episodic disorders: channelopathies and beyond. [PDF]

, 2015
Ptáček, Louis J
core   +1 more source

Skeletal muscle Na+ channel disorders [PDF]

, 2011
Dina Simkin
core   +1 more source

Molecular genetics of skeletal muscle channelopathies [PDF]

Kubota T., Takahashi M.P.. Molecular genetics of skeletal muscle channelopathies. Journal of Human Genetics (2025); https://doi.org/10.1038/s10038-025-01370-w.Skeletal muscle channelopathies are genetic disorders associated with variants in genes ...
Kubota, Tomoya, Takahashi, Masanori P.
core   +1 more source

Novel pathomechanisms and disease associations of the voltage-gated sodium channel NaV1.4 [PDF]

, 2019
Voltage-gated sodium channels initiate and shape the upstroke of the action potential, allowing fast electrical signaling between cells. Mutations in the genes encoding these channels are associated with a group of disorders known as channelopathies ...
Thor, Michael Gunnar
core  

Paramyotonia Congenita [PDF]

, 2020
openaire   +1 more source

Open-label trial of ranolazine for the treatment of paramyotonia congenita. [PDF]

Muscle Nerve, 2019
Lorusso S, Kline D, Bartlett A, Freimer M, Agriesti J, Hawash AA, Rich MM, Kissel JT, David Arnold W.   +8 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
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Analgesia and Anaesthesia Management of Labour and Caesarean Delivery for a Parturient with Paramyotonia Congenita. [PDF]

Turk J Anaesthesiol Reanim, 2019
Najid NM, Razak TA, Günaydın DB.
europepmc   +1 more source

Overlap of periodic paralysis and paramyotonia congenita caused by SCN4A gene mutations two family reports and literature review. [PDF]

Channels (Austin), 2019
Huang S, Zhang W, Chang X, Guo J.
europepmc   +1 more source