Results 91 to 100 of about 2,557 (149)

A large cohort of myotonia congenita probands: novel mutations and a high-frequency mutation region in exons 4 and 5 of the CLCN1 gene.

, 2013
Myotonia congenita is a genetic disease characterized by impaired muscle relaxation after forceful contraction (myotonia) and caused by mutations in the chloride channel voltage-sensitive 1 (CLCN1) gene, encoding the voltage-gated chloride channel of ...
Cudia P, IMBRICI, Paola, Brugnoni R, Bernasconi P, Pessia M, Mantegazza R., Morandi L, Colleoni L, Kapetis D, DESAPHY, Jean Francois, Canioni E, Gashemi N, CONTE, Diana, de Rosbo NK   +13 more
core   +1 more source

Hereditary canine myotonia: clinical characteristics, electromyography and molecular study in the CLCN1 gene

, 2019
A miotonia hereditária (MH) é uma enfermidade muscular hereditária não distrófica. Manifesta-se pela presença de hipertrofia muscular e miotonia que melhora com o exercício, fenômeno conhecido como “warm-up”.
Rodrigues, Daiane de Jesus
core  

Interference of Small Sequence Variants with MLPA in <i>CLCN1</i>: Implications for Congenital Myotonia Diagnosis. [PDF]

Genes (Basel)
Busacca M, Canioni E, Brugnoni R.
europepmc   +1 more source

Elimination of myotonia improves myopathy in a muscleblind-like knockout model of myotonic dystrophy. [PDF]

Nat Commun
Sipple MT, Hamazaki SA, Todorow V, Cisco LA, Lupia KM, Heil CS, Meinke P, Thornton CA, Lueck JD.   +8 more
europepmc   +1 more source

A novel mutation in the CLCN1 gene causing autosomal recessive myotonia congenita in siblings

Annals of Indian Academy of Neurology, 2021
Kamalesh Chakravarty, Vivek Lal, Sucharita Ray   +2 more
doaj   +1 more source

A bitter melon natural compound ameliorates the myotonic dystrophy type 1 skeletal muscle phenotype in a sex-specific manner. [PDF]

Neurotherapeutics
Atieh SA, Fahmi C, Liu J, Tang C, Ye Y, Ravel-Chapuis A, Jasmin BJ.   +6 more
europepmc   +1 more source

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