Results 101 to 110 of about 2,996 (188)

Severe congenital myasthenic syndromes caused by agrin mutations affecting secretion by motoneurons. [PDF]

Acta Neuropathol, 2022
Jacquier A, Risson V, Simonet T, Roussange F, Lacoste N, Ribault S, Carras J, Theuriet J, Girard E, Grosjean I, Le Goff L, Kröger S, Meltoranta J, Bauché S, Sternberg D, Fournier E, Kostera-Pruszczyk A, O'Connor E, Eymard B, Lochmüller H, Martinat C, Schaeffer L.   +21 more
europepmc   +1 more source

Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies [PDF]

Congenital myasthenic syndromes are associated with impairments in neuromuscular transmission. Belaya et al. show that mutations of the glycosylation pathway enzyme GMPPB, which has previously been implicated in muscular dystrophy dystroglycanopathy ...
Maxwell S, Bushby K, Liu WW, Lochmuller H, Parton M, Pitt M, Yue WW, Cruz PMR, Muntoni F, McGowan S, Beeson D, Petty R, Basiri K, Sedghi M, Belaya K, Bertoli M, Kennett R, Walls TJ, Palace J, Schaefer A, Sarkozy A, Farrugia ME   +21 more
core  

DOK7 congenital myasthenic syndrome: case series and review of literature

BMC Neurology
Background Congenital myasthenic syndromes (CMS) are among the most challenging differential diagnoses in the neuromuscular domain, consisting of diverse genotypes and phenotypes. A mutation in the Docking Protein 7 (Dok-7) is a common cause of CMS. DOK7
Bentolhoda Ziaadini, Bardyia Ghaderi Yazdi, Elham Dirandeh, Reza Boostani, Narges Karimi, Akram Panahi, Ariana Kariminejad, Mahsa Fadaee, Fatemeh Ahangari, Shahriar Nafissi   +9 more
doaj   +1 more source

Congenital myasthenic syndrome secondary to pathogenic variants in the SLC5A7 gene: report of two cases

BMC Medical Genomics
Background Congenital Myasthenic Syndromes (CMS) are rare genetic diseases, which share as a common denominator muscle fatigability due to failure of neuromuscular transmission. A distinctive clinical feature of presynaptic CMS variants caused by defects
Javier A Muntadas , Martin R Hyland, Maria Del Rosario Ortolá Martínez, Jaime N Young, Jessica X Chong, Michael J Bamshad, Ricardo A. Maselli   +6 more
doaj   +1 more source

Congenital myasthenic syndrome

RGUHS Journal of Nursing Sciences, 2016
None
openaire   +1 more source

Synaptic dysfunction in congenital myasthenic syndromes.

, 2012
Congenital myasthenic syndromes (CMS) are hereditary disorders of neuromuscular transmission characterized by fatigable muscle weakness. The number of cases recognized is increasing with improved diagnosis.
David Beeson, Beeson, D, Beeson, David
core   +1 more source

Diplopia Due to Congenital Myasthenic Syndrome Mimics Divergence Insufficiency

, 2023
Congenital myasthenic syndromes (CMS) are a genotypically and phenotypically heterogeneous group of neuromuscular disorders from the impaired neuromuscular transmission.
Yan Yan, MD, PhD
core  

Drug Therapy in Myasthenia Gravis and Congenital Myasthenic Syndromes

, 1999
While surgical removal of the thymus gland or a thymoma is often part of the therapy of myasthenia gravis (MG), the mainstay of management for ocular MG remains drug therapy.
Preston C. Calvert
core  

Eye Movement Characteristics of Congenital Myasthenic Syndromes

Congenital myasthenic syndromes (CMS) are a group of inherited disorders caused by gene variants leading to impaired transmission at the neuromuscular junction.1, 2 The gene CHRNE encodes the subunit of the pentameric acetylcholine receptor and ...
Ruben Jauregui; Nicolas Abreu; John-Ross Rizzo; Todd Hudson; Janet Rucker; Scott Grossman
core  

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

, 2014
International audienceCongenital myasthenic syndromes are a clinically and genetically heterogeneous group of rare diseases resulting from impaired neuromuscular transmission.
Chaouch, Amina, Laval, Steven H., Fontenille, Marie-Joséphine, Hantaï, Daniel, Evangelista, Teresinha, Loseth, Sissel, Cox, Daniel, Nicole, Sophie, Lochmueller, Hanns, Torbergsen, Torberg, Horn, Morten A., van Ghelue, Marijke, Barois, Annie, Eymard, Bruno, Stålberg, Erik,, Sternberg, Damien, Mueller, Juliane S., Løseth, Sissel, Griffin, Helen, Dusl, Marina, Bauché, Stéphanie, Horn, Morten, Stålberg, Erik, de Bruyckere, Elodie, Brochier, Guy, Ioos, Christine, Issop, Yasmin, Müller, Juliane, Abicht, Angela, Laval, Steven, Lochmüller, Hanns, Fournier, Emmanuel   +31 more
core   +1 more source