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Page 1
Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.
Böhm J, Biancalana V, Dechene ET, Bitoun M, Pierson CR, Schaefer E, Karasoy H, Dempsey MA, Klein F, Dondaine N, Kretz C, Haumesser N, Poirson C, Toussaint A, Greenleaf RS, Barger MA, Mahoney LJ, Kang PB, Zanoteli E, Vissing J, Witting N, Echaniz-Laguna A, Wallgren-Pettersson C, Dowling J, Merlini L, Oldfors A, Bomme Ousager L, Melki J, Krause A, Jern C, Oliveira AS, Petit F, Jacquette A, Chaussenot A, Mowat D, Leheup B, Cristofano M, Poza Aldea JJ, Michel F, Furby A, Llona JE, Van Coster R, Bertini E, Urtizberea JA, Drouin-Garraud V, Béroud C, Prudhon B, Bedford M, Mathews K, Erby LA, Smith SA, Roggenbuck J, Crowe CA, Brennan Spitale A, Johal SC, Amato AA, Demmer LA, Jonas J, Darras BT, Bird TD, Laurino M, Welt SI, Trotter C, Guicheney P, Das S, Mandel JL, Beggs AH, Laporte J. Böhm J, et al. Among authors: guicheney p. Hum Mutat. 2012 Jun;33(6):949-59. doi: 10.1002/humu.22067. Epub 2012 Apr 4. Hum Mutat. 2012. PMID: 22396310 Free PMC article.
Dynamin 2 and human diseases.
Durieux AC, Prudhon B, Guicheney P, Bitoun M. Durieux AC, et al. Among authors: guicheney p. J Mol Med (Berl). 2010 Apr;88(4):339-50. doi: 10.1007/s00109-009-0587-4. Epub 2010 Feb 3. J Mol Med (Berl). 2010. PMID: 20127478 Review.
Allele-specific silencing therapy for Dynamin 2-related dominant centronuclear myopathy.
Trochet D, Prudhon B, Beuvin M, Peccate C, Lorain S, Julien L, Benkhelifa-Ziyyat S, Rabai A, Mamchaoui K, Ferry A, Laporte J, Guicheney P, Vassilopoulos S, Bitoun M. Trochet D, et al. Among authors: guicheney p. EMBO Mol Med. 2018 Feb;10(2):239-253. doi: 10.15252/emmm.201707988. EMBO Mol Med. 2018. PMID: 29246969 Free PMC article.
Mutations in dynamin 2 cause dominant centronuclear myopathy.
Bitoun M, Maugenre S, Jeannet PY, Lacène E, Ferrer X, Laforêt P, Martin JJ, Laporte J, Lochmüller H, Beggs AH, Fardeau M, Eymard B, Romero NB, Guicheney P. Bitoun M, et al. Among authors: guicheney p. Nat Genet. 2005 Nov;37(11):1207-9. doi: 10.1038/ng1657. Epub 2005 Oct 16. Nat Genet. 2005. PMID: 16227997 Free article.
[Mutations in dynamin 2 cause dominant centronuclear myopathy].
Bitoun M, Romero NB, Guicheney P. Bitoun M, et al. Among authors: guicheney p. Med Sci (Paris). 2006 Feb;22(2):101-2. doi: 10.1051/medsci/2006222101. Med Sci (Paris). 2006. PMID: 16457739 Free article. French. No abstract available.
Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset.
Bitoun M, Bevilacqua JA, Prudhon B, Maugenre S, Taratuto AL, Monges S, Lubieniecki F, Cances C, Uro-Coste E, Mayer M, Fardeau M, Romero NB, Guicheney P. Bitoun M, et al. Among authors: guicheney p. Ann Neurol. 2007 Dec;62(6):666-70. doi: 10.1002/ana.21235. Ann Neurol. 2007. PMID: 17932957
A centronuclear myopathy--dynamin 2 mutation impairs autophagy in mice.
Durieux AC, Vassilopoulos S, Lainé J, Fraysse B, Briñas L, Prudhon B, Castells J, Freyssenet D, Bonne G, Guicheney P, Bitoun M. Durieux AC, et al. Among authors: guicheney p. Traffic. 2012 Jun;13(6):869-79. doi: 10.1111/j.1600-0854.2012.01348.x. Epub 2012 Apr 3. Traffic. 2012. PMID: 22369075 Free article.
264 results