Leturcq F - Search Results

1

Assessment of the structural and functional impact of in-frame mutations of the DMD gene, using the tools included in the eDystrophin online database.

Nicolas A, Lucchetti-Miganeh C, Yaou RB, Kaplan JC, Chelly J, Leturcq F, Barloy-Hubler F, Le Rumeur E. Nicolas A, et al. Among authors: leturcq f. Orphanet J Rare Dis. 2012 Jul 9;7:45. doi: 10.1186/1750-1172-7-45. Orphanet J Rare Dis. 2012. PMID: 22776072 Free PMC article.

2

Expression of dystrophin-associated proteins in dystrophin-positive muscle fibers (revertants) in Duchenne muscular dystrophy.

Matsumura K, Tomé FM, Collin H, Leturcq F, Jeanpierre M, Kaplan JC, Fardeau M, Campbell KP. Matsumura K, et al. Among authors: leturcq f. Neuromuscul Disord. 1994 Mar;4(2):115-20. doi: 10.1016/0960-8966(94)90002-7. Neuromuscul Disord. 1994. PMID: 7516752

3

Adhalin gene polymorphism.

Allamand V, Leturcq F, Piccolo F, Jeanpierre M, Azibi K, Roberds SL, Lim LE, Campbell KP, Beckmann JS, Kaplan JC. Allamand V, et al. Among authors: leturcq f. Hum Mol Genet. 1994 Dec;3(12):2269. doi: 10.1093/hmg/3.12.2269. Hum Mol Genet. 1994. PMID: 7881446 No abstract available.

4

Deficiency of the 50 kDa dystrophin associated glycoprotein (adhalin) in severe autosomal recessive muscular dystrophies in children native from European countries.

Fardeau M, Matsumura K, Tomé FM, Collin H, Leturcq F, Kaplan JC, Campbell KP. Fardeau M, et al. Among authors: leturcq f. C R Acad Sci III. 1993 Aug;316(8):799-804. C R Acad Sci III. 1993. PMID: 8044705

5

Skewed inactivation of an X chromosome deleted at the dystrophin gene in an asymptomatic mother and her affected daughter.

Tihy F, Vogt N, Recan D, Malfoy B, Leturcq F, Coquet M, Serville F, Fontan D, Guillard JM, Kaplan JC, et al. Tihy F, et al. Among authors: leturcq f. Hum Genet. 1994 May;93(5):563-7. doi: 10.1007/BF00202824. Hum Genet. 1994. PMID: 8168835

6

Immunohistochemical analysis of dystrophin-associated proteins in Becker/Duchenne muscular dystrophy with huge in-frame deletions in the NH2-terminal and rod domains of dystrophin.

Matsumura K, Burghes AH, Mora M, Tomé FM, Morandi L, Cornello F, Leturcq F, Jeanpierre M, Kaplan JC, Reinert P, et al. Matsumura K, et al. Among authors: leturcq f. J Clin Invest. 1994 Jan;93(1):99-105. doi: 10.1172/JCI116989. J Clin Invest. 1994. PMID: 8282827 Free PMC article.

7

Mild deficiency of dystrophin-associated proteins in Becker muscular dystrophy patients having in-frame deletions in the rod domain of dystrophin.

Matsumura K, Nonaka I, Tomé FM, Arahata K, Collin H, Leturcq F, Récan D, Kaplan JC, Fardeau M, Campbell KP. Matsumura K, et al. Among authors: leturcq f. Am J Hum Genet. 1993 Aug;53(2):409-16. Am J Hum Genet. 1993. PMID: 8328458 Free PMC article.

8

A founder mutation in the gamma-sarcoglycan gene of gypsies possibly predating their migration out of India.

Piccolo F, Jeanpierre M, Leturcq F, Dodé C, Azibi K, Toutain A, Merlini L, Jarre L, Navarro C, Krishnamoorthy R, Tomé FM, Urtizberea JA, Beckmann JS, Campbell KP, Kaplan JC. Piccolo F, et al. Among authors: leturcq f. Hum Mol Genet. 1996 Dec;5(12):2019-22. doi: 10.1093/hmg/5.12.2019. Hum Mol Genet. 1996. PMID: 8968757

9

From adhalinopathies to alpha-sarcoglycanopathies: an overview.

Jeanpierre M, Carrié A, Piccolo F, Leturcq F, Azibi K, De Toma C, Beldjord C, Merlini L, Voit T, Romero N, Sunada Y, Tomé FM, Fardeau M, Campbell KP, Kaplan JC. Jeanpierre M, et al. Among authors: leturcq f. Neuromuscul Disord. 1996 Dec;6(6):463-5. doi: 10.1016/s0960-8966(96)00394-x. Neuromuscul Disord. 1996. PMID: 9027856 Review. No abstract available.

10

Primary adhalinopathy (alpha-sarcoglycanopathy): clinical, pathologic, and genetic correlation in 20 patients with autosomal recessive muscular dystrophy.

Eymard B, Romero NB, Leturcq F, Piccolo F, Carrié A, Jeanpierre M, Collin H, Deburgrave N, Azibi K, Chaouch M, Merlini L, Thémar-Noël C, Penisson I, Mayer M, Tanguy O, Campbell KP, Kaplan JC, Tomé FM, Fardeau M. Eymard B, et al. Among authors: leturcq f. Neurology. 1997 May;48(5):1227-34. doi: 10.1212/wnl.48.5.1227. Neurology. 1997. PMID: 9153448

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