Results 121 to 130 of about 3,195 (191)

Mutations in XRCC1 cause cerebellar ataxia and peripheral neuropathy. [PDF]

, 2018
Bugiardini, E, Chelban, V, Davagnanam, I, Efthymiou, S, Hanna, MG, Houlden, H, Lynch, DS, Manole, A, Manzur, AY, Marino, S, Matthews, E, O'Connor, E, Pittman, A, Roberts, M, Vandrovcova, J, Wiethoff, S, Wood, NW   +16 more
core   +2 more sources

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

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

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

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

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

Corrigendum to: A complex CLCN1 variant associated with hereditary myotonia in a mixed-breed dog. [PDF]

J Vet Diagn Invest, 2023
europepmc   +1 more source

Miotonia canina hereditária: características clínicas, eletromiográficas e estudo molecular no gene CLCN1

, 2019
Pós-graduação em Medicina Veterinária ...
openaire   +1 more source