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Mice with muscle-specific deletion of Bin1 recapitulate centronuclear myopathy and acute downregulation of dynamin 2 improves their phenotypes.
Mol Ther. 2022 Feb 2;30(2):868-880. doi: 10.1016/j.ymthe.2021.08.006. Epub 2021 Aug 8.
Mol Ther. 2022.
PMID: 34371181
Free PMC article.
Common Pathogenic Mechanisms in Centronuclear and Myotubular Myopathies and Latest Treatment Advances.
Gómez-Oca R, Cowling BS, Laporte J.
Gómez-Oca R, et al.
Int J Mol Sci. 2021 Oct 21;22(21):11377. doi: 10.3390/ijms222111377.
Int J Mol Sci. 2021.
PMID: 34768808
Free PMC article.
Review.
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BIN1 modulation in vivo rescues dynamin-related myopathy.
Lionello VM, Kretz C, Edelweiss E, Crucifix C, Gómez-Oca R, Messaddeq N, Buono S, Koebel P, Massana Muñoz X, Diedhiou N, Cowling BS, Bitoun M, Laporte J.
Lionello VM, et al. Among authors: gomez oca r.
Proc Natl Acad Sci U S A. 2022 Mar 1;119(9):e2109576119. doi: 10.1073/pnas.2109576119.
Proc Natl Acad Sci U S A. 2022.
PMID: 35217605
Free PMC article.
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Myostatin: a Circulating Biomarker Correlating with Disease in Myotubular Myopathy Mice and Patients.
Koch C, Buono S, Menuet A, Robé A, Djeddi S, Kretz C, Gomez-Oca R, Depla M, Monseur A, Thielemans L, Servais L; NatHis-CNM Study Group; Laporte J, Cowling BS.
Koch C, et al. Among authors: gomez oca r.
Mol Ther Methods Clin Dev. 2020 May 4;17:1178-1189. doi: 10.1016/j.omtm.2020.04.022. eCollection 2020 Jun 12.
Mol Ther Methods Clin Dev. 2020.
PMID: 32514412
Free PMC article.
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Differential impact of ubiquitous and muscle dynamin 2 isoforms in muscle physiology and centronuclear myopathy.
Gómez-Oca R, Edelweiss E, Djeddi S, Gerbier M, Massana-Muñoz X, Oulad-Abdelghani M, Crucifix C, Spiegelhalter C, Messaddeq N, Poussin-Courmontagne P, Koebel P, Cowling BS, Laporte J.
Gómez-Oca R, et al.
Nat Commun. 2022 Nov 11;13(1):6849. doi: 10.1038/s41467-022-34490-4.
Nat Commun. 2022.
PMID: 36369230
Free PMC article.
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