Rescue in XLCNM by genetic cross (proof-of-principle):
Cowling BS, Chevremont T, Prokic I, Kretz C, Ferry A, Coirault C, Koutsopoulos O, Laugel V, Romero NB, Laporte J. Reducing dynamin 2 expression rescues X-linked Centronuclear Myopathy. J Clin Invest. Mar;124(3):976-8.

Rescue by genetic cross in BIN1 form of disease (proof-of-principle):
Cowling BS*,Prokic I*, Tasfaout H, Rabai A, Humbert F, Rinaldi B, Nicot AS, Kretz C, Friant S, Roux A, Laporte J. Amphiphysin (BIN1) negatively regulates dynamin (DNM2) for normal muscle maturation. J Clin Invest, 2017 Nov 13. *equal first authors.

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. Reducing dynamin 2 (DNM2) rescues DNM2-related dominant centronuclear myopathy. Proc Natl Acad Sci U S A. 2018 Oct 23;115(43):11066-11071.

Development of therapies for Neuromuscular Disorders:
Cowling BS, Thielemans L. Translational medicine in neuromuscular disorders: from academia to industry. Dis Mod Mech.2020 13: dmm041434 doi: 10.1242/dmm.041434 Published 24 October 2019.

Rescue in XLCNM, using ASO (developing translated approach):
Tasfaout H, Buono S, Guo S, Kretz C, Messaddeq N, Booten S, Greenlee S, Monia BP, Cowling BS*, Laporte J*. Antisense oligonucleotide-mediated Dnm2 knockdown prevents and reverts myotubular myopathy in mice. Nat Commun. 2017 Jun 7;8:15661.
*equal last and corresponding authors

Innovative modelling approach by Dynacure/ISMS results in the 1st peer reviewed study on quantification of the centronuclear myopathy patient population:
I. Vandersmissen et al., An integrated modelling methodology for estimating the prevalence of centronuclear myopathy, Neuromuscular Disorders (2018),

Improving our understanding of DNM2 mutations in human disease:
Muñoz XM, Buono S, Koebel P, Laporte J, Cowling BS. Different in vivo impact of Dynamin 2 mutations implicated in Charcot-Marie-Tooth neuropathy or Centronuclear Myopathy. Hum Mol Genet. 2019 Oct 19. [Epub ahead of print] PubMed PMID: 31628461.

Antisense therapy for Centronuclear Myopathies:
Cowling BS, Guo S. Antisense oligonucleotide-mediated DNM2 targeting in centronuclear myopathies: from preclinical proof of concept towards clinical trials. Monographic special issue: Oligonucleotides & peptides – Chemistry today, TKS technoscience. 2019: 37(2), 68-70.

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