Results 81 to 89 of about 163 (89)

Congenital myasthenic syndrome due to DPAGT1 mutations mimicking congenital myopathy in an Irish family

European Journal of Neurology, 2018
Petya Bogdanova-Mihaylova, Matthew D Alexander, A Reghan Foley   +2 more
exaly  

A new severe mutation in the SLC5A7 gene related to congenital myasthenic syndrome type 20

Neuromuscular Disorders, 2018
JOSÉ Manuel Pardal-Fernández, CARLOS De Cabo   +1 more
exaly  

Congenital myasthenic syndrome with sleep hypoventilation

Muscle and Nerve, 2000
Susan T Iannaccone, K M Harris, S T Iannaccone   +2 more
exaly  

Congenital myasthenic syndrome associated with epidermolysis bullosa caused by homozygous mutations in PLEC1 and CHRNE

Clinical Genetics, 2011
Juan Arredondo, T Mozaffar
exaly  

Congenital Myasthenic Syndrome due to Rapsyn Deficiency: Three Cases with Arthrogryposis and Bulbar Symptoms

Neuropediatrics, 2004
D Hantai
exaly  

Congenital myasthenic syndrome type 19 due to a novel mutation in the COL13A1 GENE

Muscle and Nerve, 2019
Robert J Marquardt, Yuebing Li
exaly  

Congenital myasthenic syndrome in Israel: Genetic and clinical characterization

Neuromuscular Disorders, 2017
Sharon Aharoni, Menachem Sadeh, Yehuda Shapira   +2 more
exaly  

Slow channel congenital myasthenic syndrome responsive to a combination of fluoxetine and salbutamol

Muscle and Nerve, 2013
Sarah Finlayson, Dimitri M Kullmann, Robin Howard   +2 more
exaly  

Congenital Myasthenic Syndrome associated with acetylcholine receptor deficiency: case report and review of the literature

Ophthalmic Genetics
Aashish Batheja, Evan Silverstein, Natario L Couser   +2 more
exaly