Results 111 to 120 of about 10,028,553 (168)

Myotonia congenita in a Greek cohort: Genotype spectrum and impact of the CLCN1:c.501C > G variant as a genetic modifier

Introduction/Aims: Myotonia congenita (MC) is the most common hereditary channelopathy in humans. Characterized by muscle stiffness, MC may be transmitted as either an autosomal dominant (Thomsen) or a recessive (Becker) disorder.
Traeger-Synodinos, Joanne, Sarmas, Ioannis, Pavlou, Evangelos, Chroni, Elisabeth, Pons, Roser, Apostolou, Paraskevi, Svingou, Maria, Sofocleous, Christalena, Kosma, Konstantina, Papadimas, Giorgos-Konstantinos, Kekou, Kyriaki, Marinakis, Nikolaos M., Papadopoulos, Constantinos   +12 more
core  

Gene A. Chesley papers

Gene A. Chesley (1935-1981) was a highly regarded scenic designer, theatre historian, and teacher. Chesley taught in the Dramatic Art Deparment at the University of California Davis from 1963 until his death at age 46 in 1981.
Chesley, Gene A.
core  

High frequency of co-segregating CLCN1 mutations among myotonic dystrophy type 2 patients from Finland and Germany

Based on previous reports the frequency of co-segregating recessive chloride channel (CLCN1) mutations in families with myotonic dystrophy type 2 (DM2) was suspected to be increased.
Raheem O, Auvinen S, Schoser B, Kress W, Lochmuller H, Suominen T, Krahe R, Udd B, Walter M   +8 more
core  

Autosomal Recessive Becker's Form of Myotonia Congenita in Indian Families. [PDF]

Cureus
Krovvidi S, Nelakurthi S, Gedela M, Singamsetty S, Bhimireddy V.   +4 more
europepmc   +1 more source

Delpacibart etedesiran improves the molecular pathology of myotonic dystrophy type 1 in the phase 1/2 MARINA study. [PDF]

Mol Ther
Kwan TT, Meng Q, Delos Santos N, Johnson NE, Thornton CA, Malecova B, Burke R, Tai LJ, Levin AA, Younis HS, Flanagan WM, Zhu Y.   +11 more
europepmc   +1 more source

2025 update of the National French consensus on gene lists for the diagnosis of muscle diseases using high-throughput sequencing. [PDF]

J Neuromuscul Dis
Pion E, Cossée M, Biancalana V, Bourdain CA, Bouchet-Seraphin C, Fauré J, Froissart R, Leturcq F, Menassa R, Metay C, Michel-Calemard L, Nectoux J, Petit F, Rendu J, Richard P, Sternberg D, Vuillaumier-Barrot S, Goethem CV, Thèze C, Attarian S, Krahn M, Gorokhova S.   +21 more
europepmc   +1 more source

Treatment updates in myotonic disorders. [PDF]

J Neurol
Matthews E, Specterman MJ, Mul K.
europepmc   +1 more source

Role of voltage-gated chloride channels in epilepsy: current insights and future directions. [PDF]

Front Pharmacol
Ni MM, Sun JY, Li ZQ, Qiu JC, Wu CF.
europepmc   +1 more source

Modified Polycyclic Compounds Rescue Mis-splicing in Myotonic Dystrophy Type 1 Disease Models. [PDF]

ACS Chem Biol
Frias JA, Hicks SM, Mazdiyasni H, Mishra SK, Sarkar K, Yeboah C, LeFever NM, Scotti MM, Zeghal H, Brandt N, Vangaveti S, Chakma P, Wang T, Reid TS, McMichael O, Crumbaugh C, Provenzano M, Hale MA, Cleary JD, Johnson NE, Wang ET, Reddy K, Berglund JA.   +22 more
europepmc   +1 more source