Leturcq F - Search Results

1

Homogeneous phenotype of the gypsy limb-girdle MD with the gamma-sarcoglycan C283Y mutation.

Merlini L, Kaplan JC, Navarro C, Barois A, Bonneau D, Brasa J, Echenne B, Gallano P, Jarre L, Jeanpierre M, Kalaydjieva L, Leturcq F, Levi-Gomes A, Toutain A, Tournev I, Urtizberea A, Vallat JM, Voit T, Warter JM. Merlini L, et al. Among authors: leturcq f. Neurology. 2000 Mar 14;54(5):1075-9. doi: 10.1212/wnl.54.5.1075. Neurology. 2000. PMID: 10720277

2

How a paternal uniparental isodisomy of chromosome 17 leads to autosomal recessive limb-girdle muscular dystrophy R3.

Verebi C, Caumes R, Chantot-Bastaraud S, Deburgrave N, Orhant L, Vaucouleur N, Cuisset L, Bienvenu T, Leturcq F, Nectoux J. Verebi C, et al. Among authors: leturcq f. Neuromuscul Disord. 2023 May;33(5):367-370. doi: 10.1016/j.nmd.2023.03.004. Epub 2023 Mar 15. Neuromuscul Disord. 2023. PMID: 36996638

3

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

4

Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity.

Piccolo F, Roberds SL, Jeanpierre M, Leturcq F, Azibi K, Beldjord C, Carrié A, Récan D, Chaouch M, Reghis A, et al. Piccolo F, et al. Among authors: leturcq f. Nat Genet. 1995 Jun;10(2):243-5. doi: 10.1038/ng0695-243. Nat Genet. 1995. PMID: 7663524

5

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.

6

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

7

Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy.

Roberds SL, Leturcq F, Allamand V, Piccolo F, Jeanpierre M, Anderson RD, Lim LE, Lee JC, Tomé FM, Romero NB, et al. Roberds SL, et al. Among authors: leturcq f. Cell. 1994 Aug 26;78(4):625-33. doi: 10.1016/0092-8674(94)90527-4. Cell. 1994. PMID: 8069911

8

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

9

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.

10

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.

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