Results 71 to 80 of about 163 (89)

Successful treatment of congenital myasthenic syndrome caused by a novel compound heterozygous variant in RAPSN

Brain and Development, 2022
Masashi Ogasawara, Yuji Inaba, Ichizo Nishino   +2 more
exaly  

Mutations inGMPPBcause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies

Brain, 2015
Katsiaryna Belaya, Pedro M Rodríguez Cruz, Simon Mcgowan   +2 more
exaly  

Use of Next-Generation Sequencing as a Diagnostic Tool for Congenital Myasthenic Syndrome

Pediatric Neurology, 2014
Alvin S Das, Dimitri P Agamanolis, Bruce H Cohen   +2 more
exaly  

Salbutamol therapy in congenital myasthenic syndrome due to DOK7 mutation

Journal of the Neurological Sciences, 2013
Amina Chaouch, Hanns Lochmüller, Lineu C Werneck   +2 more
exaly  

Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization

Brain, 2017
Claire G Salter, Osama Refai, Holly Hardy   +2 more
exaly  

Congenital myasthenic syndrome with novel pathogenic variants in the COLQ gene associated with the presence of antibodies to acetylcholine receptors

Journal of Clinical Neuroscience, 2020
Choong Yi Fong, Chin Seng Gan, Meow-Keong Thong   +2 more
exaly  

Limb-girdle congenital myasthenic syndrome in a Chinese family with novel mutations in MUSK gene and literature review

Clinical Neurology and Neurosurgery, 2016
Xinghua Luan, Wotu Tian, Li Cao
exaly  

Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy

Brain, 2014
Sophie Nicole, Amina Chaouch, Elodie De Bruyckere   +2 more
exaly  

DOK7 limb-girdle myasthenic syndrome mimicking congenital muscular dystrophy

Neuromuscular Disorders, 2013
Ibrahim Mahjneh, Hanns Lochmüller, Francesco Muntoni   +2 more
exaly  

Congenital myasthenic syndrome associated with episodic apnea and sudden infant death

Neuromuscular Disorders, 2002
H Pihko, Xin-Ming Shen, P Hackman
exaly