Congenital Myasthenic Syndromes

by J Gordon Millichap
Published 1994-01-01

Clinical and genetic basis of congenital myasthenic syndromes

by Paulo Victor Sgobbi de Souza, Gabriel Novaes de Rezende Batistella, Valéria Cavalcante Lino, Wladimir Bocca Vieira de Rezende Pinto, Marcelo Annes, Acary Souza Bulle Oliveira

Diagnosis of Congenital Myasthenic Syndromes

by J Gordon Millichap
Published 2004-02-01

COLQ-Mutant Congenital Myasthenic Syndromes

by J Gordon Millichap
Published 2008-03-01

Congenital Myasthenic Syndromes: End-Plate AChR Lack

by J Gordon Millichap
Published 1998-02-01

Repetitive compound muscle action potentials in electrophysiological diagnosis of congenital myasthenic syndromes: A case report and review of literature

by Kumar R, Kuruvilla Abraham
Published 2010-01-01

Inheritance of Congenital Myasthenic Syndromes

by J Gordon Millichap
Published 2002-08-01

Compound Heterozygous CHAT Gene Mutations of a Large Deletion and a Missense Variant in a Chinese Patient With Severe Congenital Myasthenic Syndrome With Episodic Apnea

by Zhimei Liu, Li Zhang, Li Zhang, Danmin Shen, Changhong Ding, Xinying Yang, Weihua Zhang, Jiuwei Li, Jie Deng, Shuai Gong, Jun Liu, Suyun Qian, Fang Fang
Published 2019-03-01

The Electrophysiology of Presynaptic Congenital Myasthenic Syndromes With and Without Facilitation: From Electrodiagnostic Findings to Molecular Mechanisms

by Stefan Nicolau, Margherita Milone
Published 2019-03-01

A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era

by Rachel Thompson, Angela Abicht, David Beeson, Andrew G. Engel, Bruno Eymard, Emmanuel Maxime, Hanns Lochmüller
Published 2018-11-01

Autoregulation of Acetylcholine Release and Micro-Pharmacodynamic Mechanisms at Neuromuscular Junction: Selective Acetylcholinesterase Inhibitors for Therapy of Myasthenic Syndrome...

by Konstantin A. Petrov, Konstantin A. Petrov, Evgeny E. Nikolsky, Patrick Masson
Published 2018-07-01

Congenital myasthenic syndrome due to rapsyn deficiency: A case report with a new mutation and compound heterozygosity

by Ivan O. Espinoza, Carolina Reynoso, Giulliana Chávez, Andrew G Engel
Published 2019-06-01

Global N-linked Glycosylation is Not Significantly Impaired in Myoblasts in Congenital Myasthenic Syndromes Caused by Defective Glutamine-Fructose-6-Phosphate Transaminase 1 (GF...

by Qiushi Chen, Juliane S. Müller, Poh-Choo Pang, Steve H. Laval, Stuart M. Haslam, Hanns Lochmüller, Anne Dell
Published 2015-10-01

Silencing rapsyn in vivo decreases acetylcholine receptors and augments sodium channels and secondary postsynaptic membrane folding

by Pilar Martínez-Martínez, Marko Phernambucq, Laura Steinbusch, Laurent Schaeffer, Sonia Berrih-Aknin, Hans Duimel, Peter Frederik, Peter Molenaar, Marc H. De Baets, Mario Losen
Published 2009-07-01

The Neuromuscular Junction in Health and Disease: Molecular Mechanisms Governing Synaptic Formation and Homeostasis

by Pedro M. Rodríguez Cruz, Pedro M. Rodríguez Cruz, Judith Cossins, Judith Cossins, David Beeson, David Beeson, Angela Vincent, Angela Vincent
Published 2020-12-01

Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain

by Lidia Gonzalez-Quereda, Maria Jose Rodriguez, Jordi Diaz-Manera, Jorge Alonso-Perez, Eduard Gallardo, Andres Nascimento, Carlos Ortez, Daniel Natera-de Benito, Montse Olive, Laura Gonzalez-Mera, Adolfo Lopez de Munain, Miren Zulaica, Juan Jose Poza, Ivonne Jerico, Laura Torne, Pau Riera, Jose Milisenda, Aurora Sanchez, Gloria Garrabou, Isabel Llano, Marcos Madruga-Garrido, Pia Gallano
Published 2020-05-01

Evidence-Based Practice in Rehabilitation of Myasthenia Gravis. A Systematic Review of the Literature

by Bruno Corrado, Benedetto Giardulli, Massimo Costa
Published 2020-09-01

Efficacy of terbutaline in familial limb girdle myasthenia: Case report and review of literature

by Zeyaur Rahman Azad, Ajith Sivadasan, Mathew Alexander, Anil Kumar B Patil
Published 2013-01-01

AChR β-Subunit mRNAs Are Stabilized by HuR in a Mouse Model of Congenital Myasthenic Syndrome With Acetylcholinesterase Deficiency

by Jennifer Karmouch, Perrine Delers, Fannie Semprez, Nouha Soyed, Julie Areias, Guy Bélanger, Aymeric Ravel-Chapuis, Alexandre Dobbertin, Bernard J. Jasmin, Claire Legay
Published 2020-12-01

Electrophysiological study in neuromuscular junction disorders

by Ajith Cherian, Neeraj N Baheti, Thomas Iype
Published 2013-01-01