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congenital myasthenic syndrome, CMS相关文献:
Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment.
Engel AG, Shen XM, Selcen D, Sine SM.
Lancet Neurol. 2015 Apr;14(4):420-34. doi: 10.1016/S1474-4422(14)70201-7.
PMID:25792100
Congenital Myasthenic Syndromes Overview.
Abicht A, Müller JS, Lochmüller H.
2003 May 9 [updated 2021 Dec 23]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.
PMID:20301347
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.
Int J Mol Sci. 2023 Feb 13;24(4):3730. doi: 10.3390/ijms24043730.
PMID:36835142
Guideline for the management of myasthenic syndromes.
Wiendl H, Abicht A, Chan A, Della Marina A, Hagenacker T, Hekmat K, Hoffmann S, Hoffmann HS, Jander S, Keller C, Marx A, Melms A, Melzer N, Müller-Felber W, Pawlitzki M, Rückert JC, Schneider-Gold C, Schoser B, Schreiner B, Schroeter M, Schubert B, Sieb JP, Zimprich F, Meisel A.
Ther Adv Neurol Disord. 2023 Dec 26;16:17562864231213240. doi: 10.1177/17562864231213240. eCollection 2023.
PMID:38152089
Congenital Myasthenic Syndromes.
Shieh PB, Oh SJ.
Neurol Clin. 2018 May;36(2):367-378. doi: 10.1016/j.ncl.2018.01.007.
PMID:29655455
Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort.
Polavarapu K, Sunitha B, Töpf A, Preethish-Kumar V, Thompson R, Vengalil S, Nashi S, Bardhan M, Sanka SB, Huddar A, Unnikrishnan G, Arunachal G, Girija MS, Porter A, Azuma Y, Lorenzoni PJ, Baskar D, Anjanappa RM, Keertipriya M, Padmanabh H, Harikrishna GV, Laurie S, Matalonga L, Horvath R, Nalini A, Lochmüller H.
Brain. 2024 Jan 4;147(1):281-296. doi: 10.1093/brain/awad315.
PMID:37721175
Congenital myasthenic syndromes.
Spendiff S, Lochmüller H, Maselli RA.
Int Rev Neurobiol. 2025;182:253-274. doi: 10.1016/bs.irn.2025.04.025. Epub 2025 May 16.
PMID:40675739
Congenital myasthenic syndromes.
Eymard B, Hantaï D, Estournet B.
Handb Clin Neurol. 2013;113:1469-80. doi: 10.1016/B978-0-444-59565-2.00016-2.
PMID:23622369
Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis.
Theuriet J, Masingue M, Behin A, Ferreiro A, Bassez G, Jaubert P, Tarabay O, Fer F, Pegat A, Bouhour F, Svahn J, Petiot P, Jomir L, Chauplannaz G, Cornut-Chauvinc C, Manel V, Salort-Campana E, Attarian S, Fortanier E, Verschueren A, Kouton L, Camdessanché JP, Tard C, Magot A, Péréon Y, Noury JB, Minot-Myhie MC, Perie M, Taithe F, Farhat Y, Millet AL, Cintas P, Solé G, Spinazzi M, Esselin F, Renard D, Sacconi S, Ezaru A, Malfatti E, Mallaret M, Magy L, Diab E, Merle P, Michaud M, Fournier M, Pakleza AN, Chanson JB, Lefeuvre C, Laforet P, Richard P, Sternberg D, Villar-Quiles RN, Stojkovic T, Eymard B.
Brain. 2024 Nov 4;147(11):3849-3862. doi: 10.1093/brain/awae124.
PMID:38696726
[Congenital Myasthenic Syndromes].
Ohno K.
Brain Nerve. 2024 Jan;76(1):41-45. doi: 10.11477/mf.1416202556.
PMID:38191138
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