Results 101 to 110 of about 2,557 (149)

Comprehensive bioinformatic analysis identifies potential therapeutic drugs for CryAB (R120G)-related cardiomyopathy. [PDF]

BMC Cardiovasc Disord
Zheng J, Liu Y, Wang J, Hu J, Qiu W, Su M.   +5 more
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

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

Myotonia: Recognition, Evaluation, and Differential Diagnosis. [PDF]

Muscle Nerve
Crayle JI, Al-Lozi M, Miller TM.
europepmc   +1 more source

Severe Adult-Onset Non-Dystrophic Myotonia With Apnea and Laryngospasm Due to Digenic Inheritance of SCN4A and CLCN1 Variants: A Case Report. [PDF]

Neurol Genet
Tugizova M, Margeta M, Richie M, Pet D, Rosow L, Terrelonge M, Ralph JW.   +6 more
europepmc   +1 more source

Treatment updates in myotonic disorders. [PDF]

J Neurol
Matthews E, Specterman MJ, Mul K.
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

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  

Analysis of the differential transcriptome expression profiles during prenatal muscle tissue development in Diqing Tibetan pigs. [PDF]

Front Vet Sci
Luo S, Bai Y, Li X, Jin S, Yan D, Dong X.   +5 more
europepmc   +1 more source

Differential pathology and susceptibility to MBNL loss across muscles in myotonic dystrophy mouse models. [PDF]

JCI Insight
Davenport ML, Fong A, Montoya-Vazquez G, de Moura MFA, Bubenik JL, Swanson MS.   +5 more
europepmc   +1 more source