|
|
肌肉疾病诊断及治疗进展 |
吴士文, 张淑 |
100039 北京 武警总医院神经内科 |
|
[1] |
Romero N B, Clarke N F. Congenital myopathies [J]. Handb Clin Neurol, 2013, 113:1321-1336.
|
[2] |
Snoeck M,van Engelen B G,Küsters B, et al. RYR1-related myopathies: a wide spectrum of phenotypes throughout life [J]. Eur J Neurol. 2015, 22(7): 1094-1112.
|
[3] |
Ferreira A F, Carvalho M S, Resende M B, et al. Phenotypic and immunohistochemical characterization of sarcoglycanopathies [J]. Clinics (Sao Paulo), 2011, 66(10): 1713-1719.
|
[4] |
Aartsma-Rus A, Ginjaar IB, Bushby K. The importance of genetic diagnosis for Duchenne muscular dystrophy [J]. J Med Genet, 2016, 53(3):145-151.
|
[5] |
Cagliani R 1, Fruguglietti M E, Berardinelli A, et al. New molecular findings in congenital myopathies due to selenoprotein N gene mutations [J]. J Neurol Sci, 2011, 300(1-2): 107-113.
|
[6] |
Schara U, Kress W, Bönnemann C G, et al. The phenotype and long-term follow-up in 11 patients with juvenile selenoprotein N1-related myopathy [J]. Eur J Paediatr Neurol, 2008,12(3): 224-230.
|
[7] |
Ferreiro A, Quijano-Roy S, Pichereau C, et al. Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies [J]. Am J Hum Genet, 2002, 71(4): 739-749.
|
[8] |
Belaya K, Rodríguez Cruz P M, Liu W W, et al. Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies [J]. Brain, 2015, 138(Pt 9): 2493-2504.
|
[9] |
Oestergaard S T, Stojkovic T, Dahlqvist J R, et al. Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T) [J]. Neurol Genet, 2016,2(6):e112.
|
[10] |
Van den Bergen J C, Hiller M, Böhringer S, et al. Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing SPP1 and LTBP4 variants [J]. J Neurol Neurosurg Psychiatry, 2015, 86(10): 1060-1065.
|
[11] |
Ghirardello A, Borella E, Beggio M, et al. Myositis autoantibodies and clinical phenotypes [J]. Auto Immun Highlights,2014,5(3):69-75.
|
[12] |
Basharat P, Christopher-Stine L. Immune-mediated necrotizing myopathy: update on diagnosis and management [J]. CIurr Rheumatol Rep, 2015, 17(12): 72.
|
[13] |
Pinal-Fernandez I, Mammen AL. Spectrum of immune-mediated necrotizing myopathies and their treatments [J]. Curr Opin Rheumatol, 2016, 28(6):619-624.
|
[14] |
Filli L, Winklhofer S, Andreisek G, et al. Imaging of myopathies [J]. Radiol Clin North Am, 2017, 55(5): 1055-1070.
|
[15] |
Mendell J R, Rodino-Klapac L R, Sahenk Z, et al. Eteplirsen for the treatment of Duchenne muscular dystrophy [J]. Ann Neurol, 2013, 74(5): 637-647.
|
[16] |
Kesselheim A S, Avorn J. Approving a problematic muscular dystrophy drug: implications for FDA policy [J]. JAMA, 2016, 316(22): 2357-2358.
|
[17] |
Mendell J R, Goemans N, Lowes L P, et al. Longitudinal effect of eteplirsen versus historical control on ambulation in Duchenne muscular dystrophy [J]. Ann Neurol, 2016, 79(2):257-271.
|
[18] |
McDonald C M, Campbell C, Torricelli R E, et al. Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial [J]. Lancet, 2017, 6736(17): 31611-31612.
|
[19] |
Long C, Amoasii L, Bassel-Duby R, et al. Genome editing of monogenic neuromuscular diseases: a systematic review [J]. JAMA Neurol, 2016, 73(11): 1349-1355.
|
[20] |
Glascock J, Lenz M, Hobby K, et al. Cure SMA and our patient community celebrate the first approved drug for SMA [J]. Gene Ther, 2017,24(9):498-500.
|
[21] |
Nelson S F, Miceli M C. FDA approval of Eteplirsen for muscular dystrophy [J]. JAMA, 2017, 317(14):1480.
|
[22] |
Hehir M K, Hobson-Webb L D, Benatar M, et al. Rituximab as treatment for anti-MuSK myasthenia gravis: Multicenter blinded prospective review [J]. Neurology, 2017, 89(10):1069-1077.
|
[23] |
Aggarwal R, Bandos A, Reed A M, et al. Predictors of clinical improvement in Rituximab-treated refractory adult and juvenile dermatomyositis and adult polymyositis[J]. Arthritis Rheumatol, 2014,66(3): 740-749.
|
[1] |
张淑,王丹,张昊,马沛沛,吴士文. 糖皮质激素对Duchenne型肌营养不良患者运动功能的影响[J]. 武警医学, 2018, 29(6): 545-548. |
[2] |
刘洪欣 综述 吴士文 审校. 杜氏肌营养不良患儿生存质量研究现状[J]. 武警医学, 2016, 27(7): 743-745. |
[3] |
王亚玉,吴士文. Duchenne 型假肥大肌营养不良症患儿主要生活事件及其临床特点分析[J]. 武警医学, 2016, 27(2): 129-132. |
[4] |
朱机, 匡正达, 吴士文, 张新宇. Duchenne型肌营养不良合并脊柱侧凸的危险因素分析[J]. 武警医学, 2015, 26(5): 473-475. |
[5] |
李丽, 牟瑛, 孙岩峰, 李卉. Duchenne型肌营养不良患儿营养状况及其影响因素的相关性[J]. 武警医学, 2015, 26(5): 460-462. |
[6] |
谢东晓;刘桂华;李华. Becker型肌营养不良合并Ⅲ度房室传导阻滞1例[J]. , 1998, 09(10): 612-613. |
|
|
|
|