Results 81 to 90 of about 1,941 (150)

P576: Impact of processed pseudogene insertions in genetic testing as cause of monogenic diseases: Insertion in CLCN1 gene causing myotonia congenita

Genetics in Medicine Open, 2023
Kornelia Tripolszki, Javier Martini, Kapil Kampe, Vasiliki Karageorgou, Mohamed Almuhaizea, Catarina Pereira, Stephanie Weissgraeber, Omid Paknia, Jorge Pinto-Basto, Peter Bauer   +9 more
doaj   +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

Phenotypic Difference of CLCN1 Gene Variant (A313T) in a Korean Family with Myotonia Congenita

Journal of the Korean Neurological Association, 2016
Jin-Sung Park, Sun-Jae Hwang, Jin-Hong Shin   +2 more
openaire   +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

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

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

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

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