Fardeau M - Search Results

1

Deletions in Xq28 in two boys with myotubular myopathy and abnormal genital development define a new contiguous gene syndrome in a 430 kb region.

Hu LJ, Laporte J, Kress W, Kioschis P, Siebenhaar R, Poustka A, Fardeau M, Metzenberg A, Janssen EA, Thomas N, Mandel JL, Dahl N. Hu LJ, et al. Among authors: fardeau m. Hum Mol Genet. 1996 Jan;5(1):139-43. doi: 10.1093/hmg/5.1.139. Hum Mol Genet. 1996. PMID: 8789451

2

Myotubular myopathy in a girl with a deletion at Xq27-q28 and unbalanced X inactivation assigns the MTM1 gene to a 600-kb region.

Dahl N, Hu LJ, Chery M, Fardeau M, Gilgenkrantz S, Nivelon-Chevallier A, Sidaner-Noisette I, Mugneret F, Gouyon JB, Gal A, et al. Dahl N, et al. Among authors: fardeau m. Am J Hum Genet. 1995 May;56(5):1108-15. Am J Hum Genet. 1995. PMID: 7726166 Free PMC article.

3

Mutations in the MTM1 gene implicated in X-linked myotubular myopathy. ENMC International Consortium on Myotubular Myopathy. European Neuro-Muscular Center.

Laporte J, Guiraud-Chaumeil C, Vincent MC, Mandel JL, Tanner SM, Liechti-Gallati S, Wallgren-Pettersson C, Dahl N, Kress W, Bolhuis PA, Fardeau M, Samson F, Bertini E. Laporte J, et al. Among authors: fardeau m. Hum Mol Genet. 1997 Sep;6(9):1505-11. doi: 10.1093/hmg/6.9.1505. Hum Mol Genet. 1997. PMID: 9305655

4

A mutation in the MTM1 gene invalidates a previous suggestion of nonallelic heterogeneity in X-linked myotubular myopathy.

Guiraud-Chaumeil C, Vincent MC, Laporte J, Fardeau M, Samson F, Mandel JL. Guiraud-Chaumeil C, et al. Among authors: fardeau m. Am J Hum Genet. 1997 Jun;60(6):1542-4. doi: 10.1016/S0002-9297(07)64249-9. Am J Hum Genet. 1997. PMID: 9199578 Free PMC article. No abstract available.

5

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

6

Extensive morphological and immunohistochemical characterization in myotubular myopathy.

Shichiji M, Biancalana V, Fardeau M, Hogrel JY, Osawa M, Laporte J, Romero NB. Shichiji M, et al. Among authors: fardeau m. Brain Behav. 2013 Jul;3(4):476-86. doi: 10.1002/brb3.147. Epub 2013 Jun 19. Brain Behav. 2013. PMID: 24381816 Free PMC article.

7

Expression of a recombinant dystrophin in mdx mice using adenovirus vector.

Alameddine HS, Quantin B, Cartaud A, Dehaupas M, Mandel JL, Fardeau M. Alameddine HS, et al. Among authors: fardeau m. Neuromuscul Disord. 1994 May;4(3):193-203. doi: 10.1016/0960-8966(94)90020-5. Neuromuscul Disord. 1994. PMID: 7919968

8

Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy.

Böhm J, Chevessier F, Maues De Paula A, Koch C, Attarian S, Feger C, Hantaï D, Laforêt P, Ghorab K, Vallat JM, Fardeau M, Figarella-Branger D, Pouget J, Romero NB, Koch M, Ebel C, Levy N, Krahn M, Eymard B, Bartoli M, Laporte J. Böhm J, et al. Among authors: fardeau m. Am J Hum Genet. 2013 Feb 7;92(2):271-8. doi: 10.1016/j.ajhg.2012.12.007. Epub 2013 Jan 17. Am J Hum Genet. 2013. PMID: 23332920 Free PMC article.

9

Deletion proximal to DXS68 locus (L1 probe site) in a boy with Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal hypoplasia.

Chelly J, Marlhens F, Dutrillaux B, Van Ommen GJ, Lambert M, Haioun B, Boissinot G, Fardeau M, Kaplan JC. Chelly J, et al. Among authors: fardeau m. Hum Genet. 1988 Mar;78(3):222-7. doi: 10.1007/BF00291665. Hum Genet. 1988. PMID: 2894344

10

Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1.

Böhm J, Chevessier F, Koch C, Peche GA, Mora M, Morandi L, Pasanisi B, Moroni I, Tasca G, Fattori F, Ricci E, Pénisson-Besnier I, Nadaj-Pakleza A, Fardeau M, Joshi PR, Deschauer M, Romero NB, Eymard B, Laporte J. Böhm J, et al. Among authors: fardeau m. J Med Genet. 2014 Dec;51(12):824-33. doi: 10.1136/jmedgenet-2014-102623. Epub 2014 Oct 17. J Med Genet. 2014. PMID: 25326555

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