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Page 1
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: fardeau m. Nat Genet. 2005 Nov;37(11):1207-9. doi: 10.1038/ng1657. Epub 2005 Oct 16. Nat Genet. 2005. PMID: 16227997 Free article.
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: fardeau m. Ann Neurol. 2007 Dec;62(6):666-70. doi: 10.1002/ana.21235. Ann Neurol. 2007. PMID: 17932957
"Necklace" fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy.
Bevilacqua JA, Bitoun M, Biancalana V, Oldfors A, Stoltenburg G, Claeys KG, Lacène E, Brochier G, Manéré L, Laforêt P, Eymard B, Guicheney P, Fardeau M, Romero NB. Bevilacqua JA, et al. Among authors: fardeau m. Acta Neuropathol. 2009 Mar;117(3):283-91. doi: 10.1007/s00401-008-0472-1. Epub 2008 Dec 16. Acta Neuropathol. 2009. PMID: 19084976
Skeletal muscle biopsy analysis in reducing body myopathy and other FHL1-related disorders.
Malfatti E, Olivé M, Taratuto AL, Richard P, Brochier G, Bitoun M, Gueneau L, Laforêt P, Stojkovic T, Maisonobe T, Monges S, Lubieniecki F, Vasquez G, Streichenberger N, Lacène E, Saccoliti M, Prudhon B, Alexianu M, Figarella-Branger D, Schessl J, Bonnemann C, Eymard B, Fardeau M, Bonne G, Romero NB. Malfatti E, et al. Among authors: fardeau m. J Neuropathol Exp Neurol. 2013 Sep;72(9):833-45. doi: 10.1097/NEN.0b013e3182a23506. J Neuropathol Exp Neurol. 2013. PMID: 23965743 Free PMC article.
Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations.
Böhm J, Biancalana V, Malfatti E, Dondaine N, Koch C, Vasli N, Kress W, Strittmatter M, Taratuto AL, Gonorazky H, Laforêt P, Maisonobe T, Olivé M, Gonzalez-Mera L, Fardeau M, Carrière N, Clavelou P, Eymard B, Bitoun M, Rendu J, Fauré J, Weis J, Mandel JL, Romero NB, Laporte J. Böhm J, et al. Among authors: fardeau m. Brain. 2014 Dec;137(Pt 12):3160-70. doi: 10.1093/brain/awu272. Epub 2014 Sep 25. Brain. 2014. PMID: 25260562
Multi-minicore disease--searching for boundaries: phenotype analysis of 38 cases.
Ferreiro A, Estournet B, Chateau D, Romero NB, Laroche C, Odent S, Toutain A, Cabello A, Fontan D, dos Santos HG, Haenggeli CA, Bertini E, Urtizberea JA, Guicheney P, Fardeau M. Ferreiro A, et al. Among authors: fardeau m. Ann Neurol. 2000 Nov;48(5):745-57. Ann Neurol. 2000. PMID: 11079538
Clinical and histologic findings in autosomal centronuclear myopathy.
Jeannet PY, Bassez G, Eymard B, Laforêt P, Urtizberea JA, Rouche A, Guicheney P, Fardeau M, Romero NB. Jeannet PY, et al. Among authors: fardeau m. Neurology. 2004 May 11;62(9):1484-90. doi: 10.1212/01.wnl.0000124388.67003.56. Neurology. 2004. PMID: 15136669 Review.
Charcot-Marie-Tooth features and maculopathy in a patient with Danon disease.
Laforêt P, Charron P, Maisonobe T, Romero NB, Villard E, Sebillon P, Drouin-Garraud V, Dubourg O, Fardeau M, Komajda M, Eymard B. Laforêt P, et al. Among authors: fardeau m. Neurology. 2004 Oct 26;63(8):1535. doi: 10.1212/01.wnl.0000141858.80738.aa. Neurology. 2004. PMID: 15505188 No abstract available.
552 results