Results 111 to 120 of about 2,996 (188)

Structural abnormalities of the AChR caused by mutations underlying congenital myasthenic syndromes

, 2002
The objective was to define the molecular mechanisms underlying congenital myasthenic syndromes (CMS) by studying mutations within genes encoding the acetylcholine receptor (AChR) and related proteins at the neuromuscular junction.
Beeson D, Newsom-Davis J, Hatton C, Colquhoun D, Slater C, Ealing J, Croxen R, Brownlow S, Shelley C, Vincent A, Brydson M, Webster R   +11 more
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Congenital myasthenic syndromes due to mutations in ALG2 and ALG14

Congenital myasthenic syndromes are a heterogeneous group of inherited disorders that arise from impaired signal transmission at the neuromuscular synapse. They are characterized by fatigable muscle weakness.
Maxwell S, Finlayson S, WGS500 Consortium, Liu WW, Seidhamed MZ, Lochmuller H, Carboni N, Bentley D, Beeson D, Laval S, Donnelly P, Belaya K, Salih MA, Farsani GT, Palace J, Cossins J, Hicks D, Zoltowska K, McGowan SJ, Muller J   +19 more
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CONGENITAL MYASTHENIC SYNDROME: A CASE REPORT

, 2011
Congenital myasthenic syndrome: a case report: Congenital myasthenic syndromes (CMS) are diseases of the neuromuscular junction. They usually belong to the disease groups that begin in the infantile or childhood period and carry genetic characteristics ...
Ceylan, A., Sayin, R., Caksen, H., Sari, S., Peker, E., Tuncer, O.   +5 more
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New recessive mutations in SYT2 causing severe presynaptic congenital myasthenic syndromes. [PDF]

Neurol Genet, 2020
Bauché S, Sureau A, Sternberg D, Rendu J, Buon C, Messéant J, Boëx M, Furling D, Fauré J, Latypova X, Gelot AB, Mayer M, Mary P, Whalen S, Fournier E, Cloix I, Remerand G, Laffargue F, Nougues MC, Fontaine B, Eymard B, Isapof A, Strochlic L.   +22 more
europepmc   +1 more source

Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndrome [PDF]

Congenital myasthenic syndromes result from defects in the neuromuscular junction. Using whole exome sequencing, O\u27Connor et al. identify mutations in a novel candidate gene, MYO9A, which encodes an unconventional myosin.
Colomer J, Laval SH, Cox D, Topf A, Lochmuller H, Abicht A, Muller JS, Evangelista T, Senderek J, Yaramis A, O'Connor E, Hasselmann O   +11 more
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Long Term Follow-Up on Pediatric Cases With Congenital Myasthenic Syndromes-A Retrospective Single Centre Cohort Study. [PDF]

Front Hum Neurosci, 2020
Della Marina A, Wibbeler E, Abicht A, Kölbel H, Lochmüller H, Roos A, Schara U.   +6 more
europepmc   +1 more source

Gene-specific response to muscle specific kinase agonist antibody in the treatment of congenital myasthenic syndromes. [PDF]

Brain Commun
Ho K, Adjei-Afriyie O, Carmona-Martinez R, Ray R, O'Neil D, Zeldin J, Oury J, De Clercq L, Burden SJ, Vankerckhoven B, Vanhauwaert R, Spendiff S, Lochmüller H.   +12 more
europepmc   +1 more source

Congenital myasthenic syndromes a rare case of AGRN mutation. [PDF]

Am J Neurodegener Dis
Parrey AH, Koka M, Ismail M, Dar A.
europepmc   +1 more source

Genetic heterogeneity and pathophysiological mechanisms in congenital myasthenic syndromes.

Congenital myasthenic syndromes (CMS) are a rare heterogeneous group of inherited neuromuscular disorders associated with distinctive clinical, electrophysiological, ultrastructural and genetic abnormalities.
Chaouch A, Lochmuller H, Barisic N, Muller JS   +3 more
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Epidemiological study of congenital myasthenic syndromes based on national electronic health database of Turkiye. [PDF]

North Clin Istanb
Inan B, Ozturk B, Ata N, Taskiran E, Birinci S, Sonkaya R, Eroglu E, Karadas O, Tan E, Odabasi Z.   +9 more
europepmc   +1 more source