Results 81 to 90 of about 2,226 (158)

Clinical and molecular diagnosis of a Costa Rican family with autosomal recessive myotonia congenita (Becker disease) carrying a new mutation in the CLCN1 gene

Revista de Biología Tropical, 2008
Myotonia congenita is a muscular disease characterized by myotonia, hypertrophy, and stiffness. It is inherited as either autosomal dominant or recessive known as Thomsen and Becker diseases, respectively.
Fernando Morales, Patricia Cuenca, Gerardo del Valle, Melissa Vásquez, Roberto Brian, Mauricio Sittenfeld, Keith Johnson, Xi Lin, Tetsuo Ashizawa   +8 more
doaj  

A clinical prediction rule for myotonia permanens associated with the <i>SCN4A</i> p.Gly1306Glu variant. [PDF]

Curr Res Neurobiol
Polanco DR, Almendras CJ, Lucero ML, Padilla Pérez O, Beytía Reyes MLA, Valdebenito IZ, Muller GB, Henríquez RE, Leal CPV, Rivera MS, Avila-Smirnow D.   +10 more
europepmc   +1 more source

Identification of enzymatically modified isoquercitrin as a therapeutic lead for myotonic dystrophy type 1. [PDF]

NAR Mol Med
Mishra SK, Hicks SM, Frias JA, Zhang J, Handley MT, Vangaveti S, Reid TS, Pandey A, McMichael O, Crumbaugh C, Provenzano M, Hale MA, Johnson NE, Nakamori M, Cleary JD, Reddy K, Berglund JA.   +16 more
europepmc   +1 more source

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

Machine learning-based predictive models and subtypes patterns in peripheral blood of schizophrenia based on a machine learning computational framework. [PDF]

Schizophrenia (Heidelb)
Li Z, Sun Q, Li H, Guan N, Ni J, Wang J, Xu X, Shen Y, Sun S, Li Y.   +9 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

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