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Human diaphragm atrophy in amyotrophic lateral sclerosis is not predicted by routine respiratory measures.
Guimarães-Costa R, Similowski T, Rivals I, Morélot-Panzini C, Nierat MC, Bui MT, Akbar D, Straus C, Romero NB, Michel PP, Menegaux F, Salachas F, Gonzalez-Bermejo J, Bruneteau G; RespiStimALS team; contributors to the RespiStimALS study were:. Guimarães-Costa R, et al. Among authors: bui mt. Eur Respir J. 2019 Feb 14;53(2):1801749. doi: 10.1183/13993003.01749-2018. Print 2019 Feb. Eur Respir J. 2019. PMID: 30523161 Free article. Clinical Trial.
Benefits of therapy by dynamin-2-mutant-specific silencing are maintained with time in a mouse model of dominant centronuclear myopathy.
Trochet D, Prudhon B, Mekzine L, Lemaitre M, Beuvin M, Julien L, Benkhelifa-Ziyyat S, Bui MT, Romero N, Bitoun M. Trochet D, et al. Among authors: bui mt. Mol Ther Nucleic Acids. 2022 Feb 13;27:1179-1190. doi: 10.1016/j.omtn.2022.02.009. eCollection 2022 Mar 8. Mol Ther Nucleic Acids. 2022. PMID: 35282416 Free PMC article.
Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy.
Schartner V, Romero NB, Donkervoort S, Treves S, Munot P, Pierson TM, Dabaj I, Malfatti E, Zaharieva IT, Zorzato F, Abath Neto O, Brochier G, Lornage X, Eymard B, Taratuto AL, Böhm J, Gonorazky H, Ramos-Platt L, Feng L, Phadke R, Bharucha-Goebel DX, Sumner CJ, Bui MT, Lacene E, Beuvin M, Labasse C, Dondaine N, Schneider R, Thompson J, Boland A, Deleuze JF, Matthews E, Pakleza AN, Sewry CA, Biancalana V, Quijano-Roy S, Muntoni F, Fardeau M, Bönnemann CG, Laporte J. Schartner V, et al. Among authors: bui mt. Acta Neuropathol. 2017 Apr;133(4):517-533. doi: 10.1007/s00401-016-1656-8. Epub 2016 Dec 23. Acta Neuropathol. 2017. PMID: 28012042
CASQ1 mutations impair calsequestrin polymerization and cause tubular aggregate myopathy.
Böhm J, Lornage X, Chevessier F, Birck C, Zanotti S, Cudia P, Bulla M, Granger F, Bui MT, Sartori M, Schneider-Gold C, Malfatti E, Romero NB, Mora M, Laporte J. Böhm J, et al. Among authors: bui mt. Acta Neuropathol. 2018 Jan;135(1):149-151. doi: 10.1007/s00401-017-1775-x. Epub 2017 Oct 16. Acta Neuropathol. 2018. PMID: 29039140 No abstract available.
Clathrin plaques and associated actin anchor intermediate filaments in skeletal muscle.
Franck A, Lainé J, Moulay G, Lemerle E, Trichet M, Gentil C, Benkhelifa-Ziyyat S, Lacène E, Bui MT, Brochier G, Guicheney P, Romero N, Bitoun M, Vassilopoulos S. Franck A, et al. Among authors: bui mt. Mol Biol Cell. 2019 Mar 1;30(5):579-590. doi: 10.1091/mbc.E18-11-0718. Epub 2019 Jan 2. Mol Biol Cell. 2019. PMID: 30601711 Free PMC article.
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