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Quoted phrase not found in phrase index: "Congenital myasthenic syndrome 20"
Page 1
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
Megarbane A, Bizzari S, Deepthi A, Sabbagh S, Mansour H, Chouery E, Hmaimess G, Jabbour R, Mehawej C, Alame S, Hani A, Hasbini D, Ghanem I, Koussa S, Al-Ali MT, Obeid M, Talea DB, Lefranc G, Lévy N, Leturcq F, El Hayek S, Delague V, Urtizberea JA. Megarbane A, et al. J Neuromuscul Dis. 2022;9(1):193-210. doi: 10.3233/JND-210652. J Neuromuscul Dis. 2022. PMID: 34602496 Free PMC article.
METHODS: Clinical and molecular data of patients referred to a multi-disciplinary consultation for neuromuscular disorders over a 20-year period (1999-2019) was reviewed. RESULTS: A total of 506 patients were diagnosed with 62 different disorders encompassing 10 classes of …
METHODS: Clinical and molecular data of patients referred to a multi-disciplinary consultation for neuromuscular disorders over a 20- …
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. ...
OBJECTIVES: Congenital myasthenic syndromes (CMSs) are a genotypically and phenotypically heterogeneous group of neurom …
The clinical and molecular landscape of congenital myasthenic syndromes in Austria: a nationwide study.
Krenn M, Sener M, Rath J, Zulehner G, Keritam O, Wagner M, Laccone F, Iglseder S, Marte S, Baumgartner M, Eisenkölbl A, Liechtenstein C, Rudnik S, Quasthoff S, Grinzinger S, Spenger J, Wortmann SB, Löscher WN, Zimprich F, Kellersmann A, Rappold M, Bernert G, Freilinger M, Cetin H. Krenn M, et al. J Neurol. 2023 Feb;270(2):909-916. doi: 10.1007/s00415-022-11440-0. Epub 2022 Oct 29. J Neurol. 2023. PMID: 36308527 Free PMC article.
BACKGROUND: Congenital myasthenic syndromes (CMS) are a heterogeneous group of disorders caused by genetic defects resulting in impaired neuromuscular transmission. ...The majority of patients (96.4%) received specific treatment, including acetylcholinesteras …
BACKGROUND: Congenital myasthenic syndromes (CMS) are a heterogeneous group of disorders caused by genetic defects resu …
Bedside and laboratory diagnostic testing in myasthenia.
Yoganathan K, Stevenson A, Tahir A, Sadler R, Radunovic A, Malek N. Yoganathan K, et al. J Neurol. 2022 Jun;269(6):3372-3384. doi: 10.1007/s00415-022-10986-3. Epub 2022 Feb 10. J Neurol. 2022. PMID: 35142871 Free PMC article. Review.
Myasthenia gravis (MG) and congenital myasthenic syndromes (CMS) are a group of disorders with a well characterised autoimmune or genetic and neurophysiological basis. We reviewed the literature from the last 20 years assessing the utility of various n …
Myasthenia gravis (MG) and congenital myasthenic syndromes (CMS) are a group of disorders with a well characterised aut …
Diagnosis and etiology of congenital muscular dystrophy: We are halfway there.
O'Grady GL, Lek M, Lamande SR, Waddell L, Oates EC, Punetha J, Ghaoui R, Sandaradura SA, Best H, Kaur S, Davis M, Laing NG, Muntoni F, Hoffman E, MacArthur DG, Clarke NF, Cooper S, North K. O'Grady GL, et al. Ann Neurol. 2016 Jul;80(1):101-11. doi: 10.1002/ana.24687. Epub 2016 May 25. Ann Neurol. 2016. PMID: 27159402
OBJECTIVE: To evaluate the diagnostic outcomes in a large cohort of congenital muscular dystrophy (CMD) patients using traditional and next generation sequencing (NGS) technologies. ...One patient had a congenital myasthenic syndrome, and 2 had microde …
OBJECTIVE: To evaluate the diagnostic outcomes in a large cohort of congenital muscular dystrophy (CMD) patients using traditional an …
Congenital myasthenic syndrome: Ten years clinical experience from a quaternary care south-Indian hospital.
Wadwekar V, Nair SS, Tandon V, Kuruvilla A, Nair M. Wadwekar V, et al. J Clin Neurosci. 2020 Feb;72:238-243. doi: 10.1016/j.jocn.2019.11.030. Epub 2019 Dec 27. J Clin Neurosci. 2020. PMID: 31889643
BACKGROUND: To ascertain the frequency, clinical spectrum and outcome of congenital myasthenic syndrome (CMS) patients who reported to the neuromuscular division of our quaternary medical center during the past ten years. ...Our study and review of literature …
BACKGROUND: To ascertain the frequency, clinical spectrum and outcome of congenital myasthenic syndrome (CMS) patients …
Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies.
Belaya K, Rodríguez Cruz PM, Liu WW, Maxwell S, McGowan S, Farrugia ME, Petty R, Walls TJ, Sedghi M, Basiri K, Yue WW, Sarkozy A, Bertoli M, Pitt M, Kennett R, Schaefer A, Bushby K, Parton M, Lochmüller H, Palace J, Muntoni F, Beeson D. Belaya K, et al. Brain. 2015 Sep;138(Pt 9):2493-504. doi: 10.1093/brain/awv185. Epub 2015 Jun 30. Brain. 2015. PMID: 26133662 Free PMC article.
Congenital myasthenic syndromes are inherited disorders that arise from impaired signal transmission at the neuromuscular junction. ...Here we identify a fifth glycosylation gene, GMPPB, where mutations cause congenital myasthenic syndrome …
Congenital myasthenic syndromes are inherited disorders that arise from impaired signal transmission at the neuromuscul …
Myasthenia gravis and myasthenic syndromes.
Engel AG. Engel AG. Ann Neurol. 1984 Nov;16(5):519-34. doi: 10.1002/ana.410160502. Ann Neurol. 1984. PMID: 6095730 Review.
Recognition of the autoimmune origin of acquired MG also implied that myasthenic disorders occurring in a genetic or congenital setting had a different cause. As a result, a number of congenital myasthenic syndromes have come to be recognized an …
Recognition of the autoimmune origin of acquired MG also implied that myasthenic disorders occurring in a genetic or congenital …
How to Spot Congenital Myasthenic Syndromes Resembling the Lambert-Eaton Myasthenic Syndrome? A Brief Review of Clinical, Electrophysiological, and Genetics Features.
Lorenzoni PJ, Scola RH, Kay CSK, Werneck LC, Horvath R, Lochmüller H. Lorenzoni PJ, et al. Neuromolecular Med. 2018 Jun;20(2):205-214. doi: 10.1007/s12017-018-8490-1. Epub 2018 Apr 25. Neuromolecular Med. 2018. PMID: 29696584 Review.
Congenital myasthenic syndromes (CMS) are heterogeneous genetic diseases in which neuromuscular transmission is compromised. CMS resembling the Lambert-Eaton myasthenic syndrome (CMS-LEMS) are emerging as a rare group of distinct presynaptic CMS …
Congenital myasthenic syndromes (CMS) are heterogeneous genetic diseases in which neuromuscular transmission is comprom …
Electrophysiological study of neuromuscular junction in congenital myasthenic syndromes, congenital myopathies, and chronic progressive external ophthalmoplegia.
Caldas VM, Heise CO, Kouyoumdjian JA, Zambon AA, Silva AMS, Estephan EP, Zanoteli E. Caldas VM, et al. Neuromuscul Disord. 2020 Nov;30(11):897-903. doi: 10.1016/j.nmd.2020.10.002. Epub 2020 Oct 14. Neuromuscul Disord. 2020. PMID: 33121830
This study was designed to analyze the sensitivity, specificity, and accuracy of jitter parameters combined with repetitive nerve stimulation (RNS) in congenital myasthenic syndrome (CMS), chronic progressive external ophthalmoplegia (CPEO), and congenital …
This study was designed to analyze the sensitivity, specificity, and accuracy of jitter parameters combined with repetitive nerve stimulatio …
27 results