Results 121 to 130 of about 3,216 (202)

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

Fatigue-inducing stimulation resolves myotonia in a drug-induced model [PDF]

, 2011
Erik van Lunteren, Sarah E Spiegler, Michelle Moyer   +2 more
core   +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

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

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

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

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

, 2019
Pós-graduação em Medicina Veterinária ...
openaire   +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

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