Results 121 to 130 of about 2,733 (194)

A Rare Case of Becker Disease in a 7 Year Old Boy [PDF]

, 2017
Becker Disease is an autosomal recessive version of the rare congenital disorder called Myotonia Congenita. Due to the rarity of Becker Disease, the genetic and pathological basis of this disease have not been studied well and possible diagnostic methods
Arain, Fazal M., Chand, Prem, Husein, Rozmeen Badruddin   +2 more
core   +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

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

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

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

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

Skeletal muscle Na+ channel disorders [PDF]

, 2011
Dina Simkin
core   +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

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