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Translational medicine in neuromuscular disorders: from academia to industry.
Cowling BS, Thielemans L. Cowling BS, et al. Dis Model Mech. 2019 Oct 24;13(2):dmm041434. doi: 10.1242/dmm.041434. Dis Model Mech. 2019. PMID: 31658990 Free PMC article. Review.
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: cowling bs. 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.
Defective membrane remodeling in neuromuscular diseases: insights from animal models.
Cowling BS, Toussaint A, Muller J, Laporte J. Cowling BS, et al. PLoS Genet. 2012;8(4):e1002595. doi: 10.1371/journal.pgen.1002595. Epub 2012 Apr 5. PLoS Genet. 2012. PMID: 22496665 Free PMC article. Review.
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. Among authors: cowling bs. 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.
Amphiphysin 2 (BIN1) in physiology and diseases.
Prokic I, Cowling BS, Laporte J. Prokic I, et al. J Mol Med (Berl). 2014 May;92(5):453-63. doi: 10.1007/s00109-014-1138-1. Epub 2014 Mar 5. J Mol Med (Berl). 2014. PMID: 24590001 Review.
Four and a half LIM protein 1 gene mutations cause four distinct human myopathies: a comprehensive review of the clinical, histological and pathological features.
Cowling BS, Cottle DL, Wilding BR, D'Arcy CE, Mitchell CA, McGrath MJ. Cowling BS, et al. Neuromuscul Disord. 2011 Apr;21(4):237-51. doi: 10.1016/j.nmd.2011.01.001. Neuromuscul Disord. 2011. PMID: 21310615 Review.
Different in vivo impacts of dynamin 2 mutations implicated in Charcot-Marie-Tooth neuropathy or centronuclear myopathy.
Massana Muñoz X, Buono S, Koebel P, Laporte J, Cowling BS. Massana Muñoz X, et al. Among authors: cowling bs. Hum Mol Genet. 2019 Dec 15;28(24):4067-4077. doi: 10.1093/hmg/ddz249. Hum Mol Genet. 2019. PMID: 31628461
Allele-Specific CRISPR/Cas9 Correction of a Heterozygous DNM2 Mutation Rescues Centronuclear Myopathy Cell Phenotypes.
Rabai A, Reisser L, Reina-San-Martin B, Mamchaoui K, Cowling BS, Nicot AS, Laporte J. Rabai A, et al. Among authors: cowling bs. Mol Ther Nucleic Acids. 2019 Jun 7;16:246-256. doi: 10.1016/j.omtn.2019.02.019. Epub 2019 Feb 27. Mol Ther Nucleic Acids. 2019. PMID: 30925452 Free PMC article.
Amphiphysin 2 modulation rescues myotubular myopathy and prevents focal adhesion defects in mice.
Lionello VM, Nicot AS, Sartori M, Kretz C, Kessler P, Buono S, Djerroud S, Messaddeq N, Koebel P, Prokic I, Hérault Y, Romero NB, Laporte J, Cowling BS. Lionello VM, et al. Among authors: cowling bs. Sci Transl Med. 2019 Mar 20;11(484):eaav1866. doi: 10.1126/scitranslmed.aav1866. Sci Transl Med. 2019. PMID: 30894500
Tamoxifen prolongs survival and alleviates symptoms in mice with fatal X-linked myotubular myopathy.
Gayi E, Neff LA, Massana Muñoz X, Ismail HM, Sierra M, Mercier T, Décosterd LA, Laporte J, Cowling BS, Dorchies OM, Scapozza L. Gayi E, et al. Among authors: cowling bs. Nat Commun. 2018 Nov 19;9(1):4848. doi: 10.1038/s41467-018-07058-4. Nat Commun. 2018. PMID: 30451843 Free PMC article.
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