Showing results (51-60 of 139) with videos related to
Sort By:
Pageof 14
Neuromuscular Disorders : NMD|September 24, 2011
Clinical features in a series of fast channel congenital myasthenia syndromeJacqueline Palace, Daniel Lashley, Stephen Bailey, et al.Annals of Neurology|March 30, 2004
Detection and characterization of MuSK antibodies in seronegative myasthenia gravisJohn McConville, Maria Elena Farrugia, David Beeson, et al.Neuromuscular Disorders : NMD|August 17, 2014
Congenital myopathies with secondary neuromuscular transmission defects; a case report and review of the literaturePedro M Rodríguez Cruz, Caroline Sewry, David Beeson, et al.Human Molecular Genetics|April 10, 2013
Mutations in GFPT1 that underlie limb-girdle congenital myasthenic syndrome result in reduced cell-surface expression of muscle AChRKatarzyna Zoltowska, Richard Webster, Sarah Finlayson, et al.Muscle & Nerve|February 25, 2016
Late presentations of congenital myasthenic syndromes: How many do we miss?Nidhi Garg, Con Yiannikas, Todd A Hardy, et al.Brain Communications|November 30, 2023
Congenital myasthenic syndromes: a retrospective natural history study of respiratory outcomes in a single centreJordan Poulos, Martin Samuels, Jacqueline Palace, et al.Journal of Neuroimmunology|July 29, 2008
Preferential expression of AChR epsilon-subunit in thymomas from patients with myasthenia gravisCalman A Maclennan, Angela Vincent, Alexander Marx, et al.Human Molecular Genetics|June 5, 2012
The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndromeJudith Cossins, Wei Wei Liu, Katsiaryna Belaya, et al.Neuromuscular Disorders : NMD|May 4, 2020
Severe congenital myasthenic syndrome associated with novel biallelic mutation of the CHRND geneCarmen Bonanno, Carmelo Rodolico, Ana Töpf, et al.The Journal of Physiology|June 4, 2019
Rapsyn facilitates recovery from desensitization in fetal and adult acetylcholine receptors expressed in a muscle cell lineHakan Cetin, Wei Liu, Jonathan Cheung, et al.Pageof 14