Results 101 to 110 of about 10,028,553 (168)

Muscle channelopathies and electrophysiological approach

Annals of Indian Academy of Neurology, 2008
Myotonic syndromes and periodic paralyses are rare disorders of skeletal muscle characterized mainly by muscle stiffness or episodic attacks of weakness.
Cherian Ajith, Baheti Neeraj, Kuruvilla Abraham   +2 more
doaj  

SNPs analyses of CLCN1 in cats with and without myotonia congenita.

, 2014
SNPs analyses of CLCN1 in cats with and without myotonia congenita.
Rob J. Daniel (652006), Melanie D. Youngs (652007), Stacey B. Leach (652008), Ling T. Guo (84296), Boyd R. Jones (106691), Leslie A. Lyons (106603), Dennis P. O'Brien (241639), Barbara Gandolfi (106586), G. Diane Shelton (84300)   +8 more
core   +1 more source

Editorial: New Insights in Skeletal Muscle Channelopathies - A Rapidly Expanding Field

Frontiers in Neurology, 2020
Lorenzo Maggi, Emma Matthews, Emma Matthews, Jean-François Desaphy   +3 more
doaj   +1 more source

Gene Allen Oral History (part 1)

Gene Allen, Art Director of "My Fair Lady", "A Star is Born", and "Les Girls".

core  

P576: Impact of processed pseudogene insertions in genetic testing as cause of monogenic diseases: Insertion in CLCN1 gene causing myotonia congenita

Genetics in Medicine Open, 2023
Kornelia Tripolszki, Javier Martini, Kapil Kampe, Vasiliki Karageorgou, Mohamed Almuhaizea, Catarina Pereira, Stephanie Weissgraeber, Omid Paknia, Jorge Pinto-Basto, Peter Bauer   +9 more
doaj   +1 more source

Gene Allen Oral History (part 2)

Gene Allen, Art Director of "My Fair Lady", "A Star is Born", and "Les Girls".

core  

A novel mutation of the CLCN1 gene associated with myotonia hereditaria in an Australian cattle dog.

Journal of Veterinary Internal Medicine, 2007
Daniel F. Finnigan, W. J. Brad Hanna, Roberto Poma, A. Bendall   +3 more
semanticscholar   +1 more source

Elimination of myotonia improves myopathy in a muscleblind-like knockout model of myotonic dystrophy. [PDF]

Nat Commun
Sipple MT, Hamazaki SA, Todorow V, Cisco LA, Lupia KM, Heil CS, Meinke P, Thornton CA, Lueck JD.   +8 more
europepmc   +1 more source

A clinical prediction rule for myotonia permanens associated with the <i>SCN4A</i> p.Gly1306Glu variant. [PDF]

Curr Res Neurobiol
Polanco DR, Almendras CJ, Lucero ML, Padilla Pérez O, Beytía Reyes MLA, Valdebenito IZ, Muller GB, Henríquez RE, Leal CPV, Rivera MS, Avila-Smirnow D.   +10 more
europepmc   +1 more source

Identification of enzymatically modified isoquercitrin as a therapeutic lead for myotonic dystrophy type 1. [PDF]

NAR Mol Med
Mishra SK, Hicks SM, Frias JA, Zhang J, Handley MT, Vangaveti S, Reid TS, Pandey A, McMichael O, Crumbaugh C, Provenzano M, Hale MA, Johnson NE, Nakamori M, Cleary JD, Reddy K, Berglund JA.   +16 more
europepmc   +1 more source