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Page 1
Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes-A Comprehensive Review.
Ohno K, Ohkawara B, Shen XM, Selcen D, Engel AG. Ohno K, et al. Int J Mol Sci. 2023 Feb 13;24(4):3730. doi: 10.3390/ijms24043730. Int J Mol Sci. 2023. PMID: 36835142 Free PMC article. Review.
Congenital myasthenic syndromes (CMS) are a heterogeneous group of disorders characterized by impaired neuromuscular signal transmission due to germline pathogenic variants in genes expressed at the neuromuscular junction (NMJ). ...
Congenital myasthenic syndromes (CMS) are a heterogeneous group of disorders characterized by impaired neuromuscular si …
Congenital myasthenic syndromes.
Hantaï D, Richard P, Koenig J, Eymard B. Hantaï D, et al. Curr Opin Neurol. 2004 Oct;17(5):539-51. doi: 10.1097/00019052-200410000-00004. Curr Opin Neurol. 2004. PMID: 15367858 Review.
In this article, a strategy that leads to the diagnosis of congenital myasthenic syndromes is presented, and recent advances in the clinical, genetic and molecular aspects of congenital myasthenic syndrome are outlined. ...Fluoxetine has …
In this article, a strategy that leads to the diagnosis of congenital myasthenic syndromes is presented, and recent adv …
Myasthenia gravis.
Juel VC, Massey JM. Juel VC, et al. Orphanet J Rare Dis. 2007 Nov 6;2:44. doi: 10.1186/1750-1172-2-44. Orphanet J Rare Dis. 2007. PMID: 17986328 Free PMC article. Review.
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. ...In patients with fatigable muscle weakness, the dia …
Myasthenia gravis (MG) is a rare, autoimmune neuromuscular junction disorder. Contemporary prevalence rates approach 1/5,000. MG pres …
Congenital myasthenic syndromes and the neuromuscular junction.
Rodríguez Cruz PM, Palace J, Beeson D. Rodríguez Cruz PM, et al. Curr Opin Neurol. 2014 Oct;27(5):566-75. doi: 10.1097/WCO.0000000000000134. Curr Opin Neurol. 2014. PMID: 25159927 Review.
PURPOSE OF REVIEW: 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. This review updates the reader on the new mutat …
PURPOSE OF REVIEW: Congenital myasthenic syndromes (CMS) are a group of heterogeneous inherited disorders caused by mut …
Congenital myasthenic syndromes.
Beeson D, Palace J, Vincent A. Beeson D, et al. Curr Opin Neurol. 1997 Oct;10(5):402-7. doi: 10.1097/00019052-199710000-00008. Curr Opin Neurol. 1997. PMID: 9330886 Review.
Congenital myasthenic syndromes are a rare group of heterogeneous disorders affecting neuromuscular transmission. ...
Congenital myasthenic syndromes are a rare group of heterogeneous disorders affecting neuromuscular transmission. ...
Effective Treatment With Albuterol in DOK7 Congenital Myasthenic Syndrome in Children.
Tsao CY. Tsao CY. Pediatr Neurol. 2016 Jan;54:85-7. doi: 10.1016/j.pediatrneurol.2015.09.019. Epub 2015 Nov 6. Pediatr Neurol. 2016. PMID: 26552645 Review.
CONCLUSION: DOK7 congenital myasthenic syndrome often presents with limb-girdle muscle weakness, which can become progressive without proper treatment. If muscle biopsy reveals no obvious etiology, an expanded neuromuscular gene panel may lead to a specific d …
CONCLUSION: DOK7 congenital myasthenic syndrome often presents with limb-girdle muscle weakness, which can become progr …
Motor neuron, peripheral nerve, and neuromuscular junction disorders.
Vianello A, Racca F, Vita GL, Pierucci P, Vita G. Vianello A, et al. Handb Clin Neurol. 2022;189:259-270. doi: 10.1016/B978-0-323-91532-8.00014-8. Handb Clin Neurol. 2022. PMID: 36031308 Review.
In amyotrophic lateral sclerosis (ALS), Guillain-Barre syndrome (GBS), and neuromuscular junction disorders, three mechanisms may lead, singly or together, to respiratory emergencies and increase the disease burden and mortality: (i) reduced strength of diaphragm and acces …
In amyotrophic lateral sclerosis (ALS), Guillain-Barre syndrome (GBS), and neuromuscular junction disorders, three mechanisms may lea …
Congenital myasthenic syndromes: recent advances.
Beeson D. Beeson D. Curr Opin Neurol. 2016 Oct;29(5):565-71. doi: 10.1097/WCO.0000000000000370. Curr Opin Neurol. 2016. PMID: 27472506 Review.
PURPOSE OF REVIEW: 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. ...
PURPOSE OF REVIEW: Congenital myasthenic syndromes (CMS) are a group of heterogeneous inherited disorders caused by mut …
Congenital myasthenic syndromes: an update.
Hantaï D, Nicole S, Eymard B. Hantaï D, et al. Curr Opin Neurol. 2013 Oct;26(5):561-8. doi: 10.1097/WCO.0b013e328364dc0f. Curr Opin Neurol. 2013. PMID: 23995276 Review.
PURPOSE OF REVIEW: Congenital myasthenic syndromes (CMSs) form a heterogeneous group of genetic diseases characterized by a dysfunction of neuromuscular transmission because of mutations in numerous genes. ...We also stress not only the diagnosis difficulties …
PURPOSE OF REVIEW: Congenital myasthenic syndromes (CMSs) form a heterogeneous group of genetic diseases characterized …
The congenital myasthenic syndromes: expanding genetic and phenotypic spectrums and refining treatment strategies.
Vanhaesebrouck AE, Beeson D. Vanhaesebrouck AE, et al. Curr Opin Neurol. 2019 Oct;32(5):696-703. doi: 10.1097/WCO.0000000000000736. Curr Opin Neurol. 2019. PMID: 31361628 Free PMC article. Review.
PURPOSE OF REVIEW: Congenital myasthenic syndromes (CMS) are a group of heterogeneous inherited disorders caused by mutations in genes encoding proteins whose function is essential for the integrity of neuromuscular transmission. ...
PURPOSE OF REVIEW: Congenital myasthenic syndromes (CMS) are a group of heterogeneous inherited disorders caused by mut …
46 results