Tomé F - Search Results

1

Are cysteine-rich and COOH-terminal domains of dystrophin critical for sarcolemmal localization?

Récan D, Chafey P, Leturcq F, Hugnot JP, Vincent N, Tomé F, Collin H, Simon D, Czernichow P, Nicholson LV, et al. Récan D, et al. Among authors: tome f. J Clin Invest. 1992 Feb;89(2):712-6. doi: 10.1172/JCI115640. J Clin Invest. 1992. PMID: 1737859 Free PMC article.

2

Deficiency of dystrophin-associated proteins in Duchenne muscular dystrophy patients lacking COOH-terminal domains of dystrophin.

Matsumura K, Tomé FM, Ionasescu V, Ervasti JM, Anderson RD, Romero NB, Simon D, Récan D, Kaplan JC, Fardeau M, et al. Matsumura K, et al. Among authors: tome fm. J Clin Invest. 1993 Aug;92(2):866-71. doi: 10.1172/JCI116661. J Clin Invest. 1993. PMID: 8349821 Free PMC article.

3

Nebulin seen in DMD males including one patient with a large DNA deletion encompassing the DMD gene.

Pernelle JJ, Chafey P, Chelly J, Wahrmann JP, Kaplan JC, Tomé F, Fardeau M. Pernelle JJ, et al. Among authors: tome f. Hum Genet. 1988 Mar;78(3):285. doi: 10.1007/BF00291678. Hum Genet. 1988. PMID: 3346018

4

Additional case of female monozygotic twins discordant for the clinical manifestations of Duchenne muscular dystrophy due to opposite X-chromosome inactivation.

Abbadi N, Philippe C, Chery M, Gilgenkrantz H, Tome F, Collin H, Theau D, Recan D, Broux O, Fardeau M, et al. Abbadi N, et al. Among authors: tome f. Am J Med Genet. 1994 Aug 15;52(2):198-206. doi: 10.1002/ajmg.1320520215. Am J Med Genet. 1994. PMID: 7802009

5

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: tome fm. C R Acad Sci III. 1993 Aug;316(8):799-804. C R Acad Sci III. 1993. PMID: 8044705

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: tome fm. J Clin Invest. 1994 Jan;93(1):99-105. doi: 10.1172/JCI116989. J Clin Invest. 1994. PMID: 8282827 Free PMC article.

7

[Presence of dystrophine-like protein at the neuromuscular junction in Duchenne muscular dystrophy and in "mdx" mutant mice].

Fardeau M, Tomé FM, Collin H, Augier N, Pons F, Léger J, Léger J. Fardeau M, et al. Among authors: tome fm. C R Acad Sci III. 1990;311(5):197-204. C R Acad Sci III. 1990. PMID: 2119867 French.

8

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: tome fm. Neuromuscul Disord. 1994 Mar;4(2):115-20. doi: 10.1016/0960-8966(94)90002-7. Neuromuscul Disord. 1994. PMID: 7516752

9

Genetic heterogeneity of severe childhood autosomal recessive muscular dystrophy with adhalin (50 kDa dystrophin-associated glycoprotein) deficiency.

Romero NB, Tomé FM, Leturcq F, el Kerch FE, Azibi K, Bachner L, Anderson RD, Roberds SL, Campbell KP, Fardeau M, et al. Romero NB, et al. Among authors: tome fm. C R Acad Sci III. 1994 Jan;317(1):70-6. C R Acad Sci III. 1994. PMID: 7987694

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: tome fm. Am J Hum Genet. 1993 Aug;53(2):409-16. Am J Hum Genet. 1993. PMID: 8328458 Free PMC article.

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