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Nature|August 10, 2007
An IRF8-binding promoter variant and AIRE control CHRNA1 promiscuous expression in thymusMatthieu Giraud, Richard Taubert, Claire Vandiedonck, et al.American Journal of Human Genetics|June 30, 2012
Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregatesKatsiaryna Belaya, Sarah Finlayson, Clarke R Slater, et al.Journal of Neurology|June 23, 2009
AChR deficiency due to epsilon-subunit mutations: two common mutations in the NetherlandsCatharina G Faber, Peter C Molenaar, Johannes S H Vles, et al.The Journal of Physiology|November 8, 2021
Antagonistic postsynaptic and presynaptic actions of cyclohexanol on neuromuscular synaptic transmission and functionKosala N Dissanayake, Filip Margetiny, Charlotte L Whitmore, et al.JCI Insight|June 21, 2019
Characterization of pathogenic monoclonal autoantibodies derived from muscle-specific kinase myasthenia gravis patientsKazushiro Takata, Panos Stathopoulos, Michelangelo Cao, et al.Annals of the New York Academy of Sciences|November 1, 2003
Antibodies in myasthenia gravis and related disordersAngela Vincent, John McConville, Maria Elena Farrugia, et al.Neuromuscular Disorders : NMD|July 9, 2013
DOK7 congenital myasthenic syndrome in childhood: early diagnostic clues in 23 childrenAndrea Klein, Matthew C Pitt, John C McHugh, et al.Annals of the New York Academy of Sciences|January 30, 2018
Serological and experimental studies in different forms of myasthenia gravisAngela Vincent, Saif Huda, Michelangelo Cao, et al.Muscle & Nerve|January 21, 2016
Muscle magnetic resonance imaging in congenital myasthenic syndromesSarah Finlayson, Jasper M Morrow, Pedro M Rodriguez Cruz, et al.Brain : a Journal of Neurology|February 14, 2013
Congenital myasthenic syndromes due to mutations in ALG2 and ALG14Judith Cossins, Katsiaryna Belaya, Debbie Hicks, et al.Pageof 14