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Quoted phrase not found in phrase index: "Congenital myasthenic syndrome 5"
Page 1
Congenital myasthenic syndromes.
Finsterer J. Finsterer J. Orphanet J Rare Dis. 2019 Feb 26;14(1):57. doi: 10.1186/s13023-019-1025-5. Orphanet J Rare Dis. 2019. PMID: 30808424 Free PMC article.
OBJECTIVES: Congenital myasthenic syndromes (CMSs) are a genotypically and phenotypically heterogeneous group of neuromuscular disorders, which have in common an impaired neuromuscular transmission. ...These mutations concern 8 presynaptic, 4 synaptic, 15 pos …
OBJECTIVES: Congenital myasthenic syndromes (CMSs) are a genotypically and phenotypically heterogeneous group of neurom …
COLQ-related congenital myasthenic syndrome: An integrative view.
Eshaghian T, Rabbani B, Badv RS, Mikaeeli S, Gharib B, Iyadurai S, Mahdieh N. Eshaghian T, et al. Neurogenetics. 2023 Jul;24(3):189-200. doi: 10.1007/s10048-023-00719-7. Epub 2023 May 25. Neurogenetics. 2023. PMID: 37231228
Congenital myasthenic syndromes are inherited disorders caused by mutation in components of the neuromuscular junction and manifest early in life. Mutations in COLQ gene result in congenital myasthenic syndrome. Here, we present the analy …
Congenital myasthenic syndromes are inherited disorders caused by mutation in components of the neuromuscular junction …
Pharmacological Treatments for Congenital Myasthenic Syndromes Caused by COLQ Mutations.
Shao S, Shi G, Bi FF, Huang K. Shao S, et al. Curr Neuropharmacol. 2023;21(7):1594-1605. doi: 10.2174/1570159X21666230126145652. Curr Neuropharmacol. 2023. PMID: 36703579 Free PMC article. Review.
BACKGROUND: Congenital myasthenic syndromes (CMS) refer to a series of inherited disorders caused by defects in various proteins. ...In addition, AChEIs should be avoided in CMS patients with COLQ mutations, as 90.5% (105/116) of patients treated with …
BACKGROUND: Congenital myasthenic syndromes (CMS) refer to a series of inherited disorders caused by defects in various …
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 …
Myasthenia and the neuromuscular junction.
Gilhus NE. Gilhus NE. Curr Opin Neurol. 2012 Oct;25(5):523-9. doi: 10.1097/WCO.0b013e3283572588. Curr Opin Neurol. 2012. PMID: 22892950 Review.
PURPOSE OF REVIEW: Myasthenic syndromes are distinct disorders at the neuromuscular junction, most often with well characterized autoimmune or genetic pathology. New aspects of the dysfunctions give insight into the normal neuromuscular function in addition to givin …
PURPOSE OF REVIEW: Myasthenic syndromes are distinct disorders at the neuromuscular junction, most often with well characteriz …
Salbutamol therapy in congenital myasthenic syndrome due to DOK7 mutation.
Lorenzoni PJ, Scola RH, Kay CS, Filla L, Miranda AP, Pinheiro JM, Chaouch A, Lochmüller H, Werneck LC. Lorenzoni PJ, et al. J Neurol Sci. 2013 Aug 15;331(1-2):155-7. doi: 10.1016/j.jns.2013.05.017. Epub 2013 Jun 19. J Neurol Sci. 2013. PMID: 23790237
INTRODUCTION: Salbutamol is a selective B2-adrenergic agonist, which has previously been described to be associated with partial improvement of myasthenia gravis and congenital myasthenic syndromes (CMS). In this study, we analyzed the effect of salbutamol in …
INTRODUCTION: Salbutamol is a selective B2-adrenergic agonist, which has previously been described to be associated with partial improvement …
A cross-sectional nationwide survey of congenital and infantile nephrotic syndrome in Japan.
Hamasaki Y, Hamada R, Muramatsu M, Matsumoto S, Aya K, Ishikura K, Kaneko T, Iijima K. Hamasaki Y, et al. BMC Nephrol. 2020 Aug 24;21(1):363. doi: 10.1186/s12882-020-02010-5. BMC Nephrol. 2020. PMID: 32838745 Free PMC article.
BACKGROUND: Congenital nephrotic syndrome (CNS) and infantile nephrotic syndrome (INS) cause substantial morbidity and mortality. ...The most frequent disease type was non-Finnish (60.2%); 33 patients (39.8%) had Finnish type. Among those with non-Finnish-typ …
BACKGROUND: Congenital nephrotic syndrome (CNS) and infantile nephrotic syndrome (INS) cause substantial morbidity and …
Presynaptic congenital myasthenic syndrome due to three novel mutations in SLC5A7 encoding the sodium-dependant high-affinity choline transporter.
Rodríguez Cruz PM, Hughes I, Manzur A, Munot P, Ramdas S, Wright R, Breen C, Pitt M, Pagnamenta AT, Taylor JC, Palace J, Beeson D. Rodríguez Cruz PM, et al. Neuromuscul Disord. 2021 Jan;31(1):21-28. doi: 10.1016/j.nmd.2020.10.006. Epub 2020 Oct 20. Neuromuscul Disord. 2021. PMID: 33250374
SLC5A7 encodes the presynaptic sodium-dependant high-affinity choline transporter 1 (CHT), which uptakes choline to the presynaptic nerve terminal following the breakdown of acetylcholine by the acetylcholinesterase within the synaptic cleft. We report 5 patients from thre …
SLC5A7 encodes the presynaptic sodium-dependant high-affinity choline transporter 1 (CHT), which uptakes choline to the presynaptic nerve te …
Therapeutic strategies in congenital myasthenic syndromes.
Schara U, Lochmüller H. Schara U, et al. Neurotherapeutics. 2008 Oct;5(4):542-7. doi: 10.1016/j.nurt.2008.07.003. Neurotherapeutics. 2008. PMID: 19019305 Free PMC article. Review.
Congenital myasthenic syndromes (CMS) are classified in terms of the located defect: presynaptic, postsynaptic, and synaptic. ...Therapeutic agents used in CMS depend on the underlying defect and include acetylcholinesterase inhibitor, 3,4-diaminopyridine, qu …
Congenital myasthenic syndromes (CMS) are classified in terms of the located defect: presynaptic, postsynaptic, and syn …
31 results