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myotubular myopathy相关文献:
X-linked myotubular myopathy.
Lawlor MW, Dowling JJ.
Neuromuscul Disord. 2021 Oct;31(10):1004-1012. doi: 10.1016/j.nmd.2021.08.003.
PMID:34736623
X-linked myotubular myopathy: an untreated treatable disease.
Martin C, Servais L.
Expert Opin Biol Ther. 2025 Apr;25(4):379-394. doi: 10.1080/14712598.2025.2473430. Epub 2025 Mar 6.
PMID:40042390
Centronuclear (myotubular) myopathy.
Jungbluth H, Wallgren-Pettersson C, Laporte J.
Orphanet J Rare Dis. 2008 Sep 25;3:26. doi: 10.1186/1750-1172-3-26.
PMID:18817572
X-linked myotubular myopathy: a clinical report and a review of the mild phenotype.
Barreto-Mota R, Figueirinha J, Quental R, Fonseca J, Melo C, Sampaio M, Sousa R.
Rev Neurol. 2023 Apr 1;76(7):243-246. doi: 10.33588/rn.7607.2021447.
PMID:36973888
Safety and efficacy of gene replacement therapy for X-linked myotubular myopathy (ASPIRO): a multinational, open-label, dose-escalation trial.
Shieh PB, Kuntz NL, Dowling JJ, Müller-Felber W, Bönnemann CG, Seferian AM, Servais L, Smith BK, Muntoni F, Blaschek A, Foley AR, Saade DN, Neuhaus S, Alfano LN, Beggs AH, Buj-Bello A, Childers MK, Duong T, Graham RJ, Jain M, Coats J, MacBean V, James ES, Lee J, Mavilio F, Miller W, Varfaj F, Murtagh M, Han C, Noursalehi M, Lawlor MW, Prasad S, Rico S.
Lancet Neurol. 2023 Dec;22(12):1125-1139. doi: 10.1016/S1474-4422(23)00313-7.
PMID:37977713
[Myotubular myopathy].
Guiraud-Chaumeil C, Laporte J, Mandel JL, Warter JM.
Rev Neurol (Paris). 2000 Nov;156(11):960-4.
PMID:11119047
Directed evolution of a family of AAV capsid variants enabling potent muscle-directed gene delivery across species.
Tabebordbar M, Lagerborg KA, Stanton A, King EM, Ye S, Tellez L, Krunnfusz A, Tavakoli S, Widrick JJ, Messemer KA, Troiano EC, Moghadaszadeh B, Peacker BL, Leacock KA, Horwitz N, Beggs AH, Wagers AJ, Sabeti PC.
Cell. 2021 Sep 16;184(19):4919-4938.e22. doi: 10.1016/j.cell.2021.08.028. Epub 2021 Sep 9.
PMID:34506722
An autopsy case of peliosis hepatis with X-linked myotubular myopathy.
Funayama K, Shimizu H, Tanaka H, Kawachi I, Nishino I, Matsui K, Takahashi N, Koyama A, Katsuragi-Go R, Higuchi R, Aoyama T, Watanabe H, Kakita A, Takatsuka H.
Leg Med (Tokyo). 2019 May;38:77-82. doi: 10.1016/j.legalmed.2019.04.005. Epub 2019 Apr 18.
PMID:31030121
Congenital Muscular Dystrophy and Congenital Myopathy.
Butterfield RJ.
Continuum (Minneap Minn). 2019 Dec;25(6):1640-1661. doi: 10.1212/CON.0000000000000792.
PMID:31794464
X-linked myotubular myopathy: Living longer and awaiting treatment.
Finkel RS, Darras BT.
Neurology. 2017 Sep 26;89(13):1316-1317. doi: 10.1212/WNL.0000000000004428. Epub 2017 Aug 25.
PMID:28842443
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