Results 171 to 180 of about 2,985,698 (230)

[Myotonic disorder and channelopathy].

Nihon Naika Gakkai zasshi. The Journal of the Japanese Society of Internal Medicine, 2004
openaire   +1 more source

Biophysical and structural insights into the SCN4A E452K variant linked to myotonia and paramyotonia congenita. [PDF]

Sci Rep
Plumereau Q, Lile S, Johnson CN, Chahine M.   +3 more
europepmc   +1 more source

Genetic anticipation and cardiac conduction abnormalities in myotonic dystrophy type 1: implications for early stratification from a multicenter registry. [PDF]

Int J Cardiol Heart Vasc
Lorca R, Alen A, Moliner-Abós C, de Frutos F, Báez-Ferrer N, Peña-Peña ML, Villacorta E, Ripoll-Vera T, Zorio E, Martínez-Gimeno A, Bermúdez-Jiménez J, Limeres J, Tiron C, Larrañaga-Moreira JM, Cabrera-Romero E, García-Pavía P, Espinosa MA, Piqueras J, García-Hernández S, Palomino-Doza J, Soriano-Amores M, Moris G, Carrillo-Mora LM, Syris P, Alvarez-Velasco R, Gimeno JR, Muñoz C.   +26 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

Assessing the Safety and Efficacy of Lamotrigine as Anti-myotonic Agent in Myotonic Dystrophy Type 1 (DM1): A Longitudinal, Open-Label, Pilot Study. [PDF]

Neurol Ther
Risi B, Ait Allali N, Cotti Piccinelli S, Caria F, Damioli S, Labella B, Bertella E, Giovanelli G, Garofali F, Margollicci G, Carugati R, Ferullo L, Olivieri E, Poli L, Padovani A, Filosto M.   +15 more
europepmc   +1 more source

Interrupted CTG repeats in the 37-43 units size range in the 3'UTR of DMPK are common alleles. [PDF]

Eur J Hum Genet
Swinkels H, Leferink M, Pennings M, van der Sanden B, Gilissen C, Galbany JC, Kamsteeg EJ.   +6 more
europepmc   +1 more source

Twenty-five years of AIM: from the initiative of a small group of myologists to a successful Italian research institution. The story of the Italian Association of Myology. [PDF]

Acta Myol
Mongini TE, Politano L.
europepmc   +1 more source