Results 81 to 90 of about 2,996 (188)

Clinical and functional studies of autoimmune disorders of neuromuscular transmission

, 2015
Inherited and acquired disorders of the neuromuscular junction are an important cause of muscle weakness and fatigability. In this thesis I focus on the autoimmune disorders of neuromuscular transmission.
Spillane, J
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Effect of β2-adrenergic receptor agonists on neurotransmission and neuromuscular junction structure in congenital myasthenic syndromes

, 2019
Background: β2-adrenergic agonists have been reported to be beneficial in patients with congenital myasthenic syndromes, in particular in those subtypes where postsynaptic structure is impaired.
Vanhaesebrouck, An
core   +1 more source

Italian recommendations for diagnosis and management of congenital myasthenic syndromes

, 2019
Congenital myasthenic syndromes (CMS) are genetic disorders due to mutations in genes encoding proteins involved in the neuromuscular junction structure and function. CMS usually present in young children, but perinatal and adult onset has been reported.
Brugnoni R., Astrea G., Fiorillo C., Bernasconi P., Mantegazza R., Evoli A., Liguori R., Rodolico C., D'Amico A., Antonini G., Maggi L., Bertini E., Bruno C., Santorelli F. M., Garibaldi M.   +14 more
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Structural abnormalities of the AChR caused by mutations underlying congenital myasthenic syndromes.

, 2003
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.
CHRIS SHELLEY, RICHARD WEBSTER, SHARON BROWNLOW, DAVID COLQUHOUN, Newsom-Davis, J, DAVID BEESON, REBECCA CROXEN, Vincent, Angela, Ealing, J, Beeson, David, Shelley, C, Brownlow, S, ANGELA VINCENT, Brydson, M, CLARKE SLATER, Hatton, C, JOHN NEWSOM‐DAVIS, Webster, R, Croxen, R, Slater, C, MARTIN BRYDSON, JOHN EALING, CHRIS HATTON, Colquhoun, D   +23 more
core   +1 more source

Myasthenia gravis

Orphanet Journal of Rare Diseases, 2007
Myasthenia gravis (MG) is a rare, autoimmune neuromuscular junction disorder. Contemporary prevalence rates approach 1/5,000. MG presents with painless, fluctuating, fatigable weakness involving specific muscle groups.
Massey Janice M, Juel Vern C
doaj   +1 more source

Electrophysiological properties of congenital myasthenic syndromes

, 2008
Giris: Konjenital miyastenik sendromlar genellikle infantil yada çocukluk çağında baslayan, presinaptik, sinaptik veya postsinaptik alandaki defekt sonucu ortaya çıkan bir grup herediter nöromuskuler bileske hastalıklarıdır.
H. Karasoy, M. Searp, B. Uludağ
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Congenital myasthenic syndromes: recent advances

, 2016
Congenital myasthenic syndromes (CMS) are a group of heterogeneous inherited disorders caused by mutations in genes encoding proteins essential for the integrity of neuromuscular transmission.
David Beeson, Beeson, D, Beeson, David
core   +1 more source

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

Annals of Indian Academy of Neurology, 2010
Congenital myasthenic syndromes (CMSs) are a heterogeneous group of disorders, characterized by dysfunction of neuromuscular junction (NMJ) transmission. These syndromes are genetically inherited and are present since birth.
Kumar R, Kuruvilla Abraham
doaj  

A novel c.973G>T mutation in the ε-subunit of the acetylcholine receptor causing congenital myasthenic syndrome in an iranian family

Balkan Journal of Medical Genetics, 2019
Congenital myasthenic syndrome (CMS) constitutes a group of inherited disorders of neuromuscular junctions. The majority of postsynaptic syndromes result from mutations in the CHRNE gene that causes muscle nicotine acetylcholine deficiency. In this study,
Karimzadeh P, Parvizi Omran S, Ghaedi H, Omrani MD   +3 more
doaj   +1 more source

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

Frontiers in Pharmacology, 2018
Neuromuscular junctions (NMJs) are directly involved into such indispensable to life processes as respiration and locomotion. However, motor nerve forms only one synaptic contact at each muscle fiber.
Konstantin A. Petrov, Konstantin A. Petrov, Evgeny E. Nikolsky, Patrick Masson   +3 more
doaj   +1 more source