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Page 1
Brain MRI abnormalities in muscular dystrophy due to FKRP mutations.
Quijano-Roy S, Martí-Carrera I, Makri S, Mayer M, Maugenre S, Richard P, Berard C, Viollet L, Leheup B, Guicheney P, Pinard JM, Estournet B, Carlier RY. Quijano-Roy S, et al. Among authors: maugenre s. Brain Dev. 2006 May;28(4):232-42. doi: 10.1016/j.braindev.2005.08.003. Epub 2005 Dec 20. Brain Dev. 2006. PMID: 16368217
Four Caucasian patients with mutations in the fukutin gene and variable clinical phenotype.
Vuillaumier-Barrot S, Quijano-Roy S, Bouchet-Seraphin C, Maugenre S, Peudenier S, Van den Bergh P, Marcorelles P, Avila-Smirnow D, Chelbi M, Romero NB, Carlier RY, Estournet B, Guicheney P, Seta N. Vuillaumier-Barrot S, et al. Among authors: maugenre s. Neuromuscul Disord. 2009 Mar;19(3):182-8. doi: 10.1016/j.nmd.2008.12.005. Neuromuscul Disord. 2009. PMID: 19179078
Early onset collagen VI myopathies: Genetic and clinical correlations.
Briñas L, Richard P, Quijano-Roy S, Gartioux C, Ledeuil C, Lacène E, Makri S, Ferreiro A, Maugenre S, Topaloglu H, Haliloglu G, Pénisson-Besnier I, Jeannet PY, Merlini L, Navarro C, Toutain A, Chaigne D, Desguerre I, de Die-Smulders C, Dunand M, Echenne B, Eymard B, Kuntzer T, Maincent K, Mayer M, Plessis G, Rivier F, Roelens F, Stojkovic T, Taratuto AL, Lubieniecki F, Monges S, Tranchant C, Viollet L, Romero NB, Estournet B, Guicheney P, Allamand V. Briñas L, et al. Among authors: maugenre s. Ann Neurol. 2010 Oct;68(4):511-20. doi: 10.1002/ana.22087. Ann Neurol. 2010. PMID: 20976770
Two patients with 'Dropped head syndrome' due to mutations in LMNA or SEPN1 genes.
D'Amico A, Haliloglu G, Richard P, Talim B, Maugenre S, Ferreiro A, Guicheney P, Menditto I, Benedetti S, Bertini E, Bonne G, Topaloglu H. D'Amico A, et al. Among authors: maugenre s. Neuromuscul Disord. 2005 Aug;15(8):521-4. doi: 10.1016/j.nmd.2005.03.006. Neuromuscul Disord. 2005. PMID: 15961312
Protein O-mannosyltransferase activities in lymphoblasts from patients with alpha-dystroglycanopathies.
Manya H, Bouchet C, Yanagisawa A, Vuillaumier-Barrot S, Quijano-Roy S, Suzuki Y, Maugenre S, Richard P, Inazu T, Merlini L, Romero NB, Leturcq F, Bezier I, Topaloglu H, Estournet B, Seta N, Endo T, Guicheney P. Manya H, et al. Among authors: maugenre s. Neuromuscul Disord. 2008 Jan;18(1):45-51. doi: 10.1016/j.nmd.2007.08.002. Epub 2007 Sep 14. Neuromuscul Disord. 2008. PMID: 17869517
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: maugenre s. Ann Neurol. 2007 Dec;62(6):666-70. doi: 10.1002/ana.21235. Ann Neurol. 2007. PMID: 17932957
Congenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE gene.
Clarke NF, Maugenre S, Vandebrouck A, Urtizberea JA, Willer T, Peat RA, Gray F, Bouchet C, Manya H, Vuillaumier-Barrot S, Endo T, Chouery E, Campbell KP, Mégarbané A, Guicheney P. Clarke NF, et al. Among authors: maugenre s. Eur J Hum Genet. 2011 Apr;19(4):452-7. doi: 10.1038/ejhg.2010.212. Epub 2011 Jan 19. Eur J Hum Genet. 2011. PMID: 21248746 Free PMC article.
18 results