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Page 1
Phenotypic Spectrum of DNM2-Related Centronuclear Myopathy.
Hayes LH, Perdomini M, Aykanat A, Genetti CA, Paterson HL, Cowling BS, Freitag C, Beggs AH. Hayes LH, et al. Among authors: cowling bs. Neurol Genet. 2022 Oct 25;8(6):e200027. doi: 10.1212/NXG.0000000000200027. eCollection 2022 Dec. Neurol Genet. 2022. PMID: 36324371 Free PMC article.
Liver function in X-linked myotubular myopathy and autosomal dominant centronuclear myopathy: Data of the unite-CNM study.
Colombo S, Cowling BS, Eyler L, Nijkamp D, Freitag C, Thielemans L, Bouman K, Baets J, Vissing J, Quinlivan R, Guglieri M, Montagnese F, Schara-Schmidt U, Dhawan A, Lawlor MW, Voermans NC. Colombo S, et al. Among authors: cowling bs. J Neuromuscul Dis. 2025 Jul;12(4):497-512. doi: 10.1177/22143602251329215. Epub 2025 Apr 24. J Neuromuscul Dis. 2025. PMID: 40275672 Free PMC article. Clinical Trial.
Amphiphysin 2 (BIN1) in physiology and diseases.
Prokic I, Cowling BS, Laporte J. Prokic I, et al. Among authors: cowling bs. 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.
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: cowling bs. 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.
46 results