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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
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
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
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
[Congenital Myasthenic Syndromes].
Ohno K.
Brain Nerve. 2024 Jan;76(1):41-45. doi: 10.11477/mf.1416202556.
PMID:38191138
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: increasingly complex.
Ramdas S, Beeson D, Dong YY.
Curr Opin Neurol. 2024 Oct 1;37(5):493-501. doi: 10.1097/WCO.0000000000001300. Epub 2024 Jul 25.
PMID:39051439
Congenital myasthenic syndrome: Correlation between clinical features and molecular diagnosis.
Estephan EP, Zambon AA, Thompson R, Polavarapu K, Jomaa D, Töpf A, Helito PVP, Heise CO, Moreno CAM, Silva AMS, Kouyoumdjian JA, Morita MDP, Reed UC, Lochmüller H, Zanoteli E.
Eur J Neurol. 2022 Mar;29(3):833-842. doi: 10.1111/ene.15173. Epub 2021 Nov 17.
PMID:34749429
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