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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: buono s. 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.
Reducing dynamin 2 (DNM2) rescues DNM2-related dominant centronuclear myopathy.
Buono S, Ross JA, Tasfaout H, Levy Y, Kretz C, Tayefeh L, Matson J, Guo S, Kessler P, Monia BP, Bitoun M, Ochala J, Laporte J, Cowling BS. Buono S, et al. Proc Natl Acad Sci U S A. 2018 Oct 23;115(43):11066-11071. doi: 10.1073/pnas.1808170115. Epub 2018 Oct 5. Proc Natl Acad Sci U S A. 2018. PMID: 30291191 Free PMC article.
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: buono s. 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.