Tomé F - Search Results

1

A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy.

Vicart P, Caron A, Guicheney P, Li Z, Prévost MC, Faure A, Chateau D, Chapon F, Tomé F, Dupret JM, Paulin D, Fardeau M. Vicart P, et al. Among authors: tome f. Nat Genet. 1998 Sep;20(1):92-5. doi: 10.1038/1765. Nat Genet. 1998. PMID: 9731540

2

[Familial myopathy with desmin storage seen as a granulo-filamentar, electron-dense material with mutation of the alphaB-cristallin gene].

Fardeau M, Vicart P, Caron A, Chateau D, Chevallay M, Collin H, Chapon F, Duboc D, Eymard B, Tomé FM, Dupret JM, Paulin D, Guicheney P. Fardeau M, et al. Among authors: tome fm. Rev Neurol (Paris). 2000 May;156(5):497-504. Rev Neurol (Paris). 2000. PMID: 10844369 French.

3

Storage of phosphorylated desmin in a familial myopathy.

Rappaport L, Contard F, Samuel JL, Delcayre C, Marotte F, Tomè F, Fardeau M. Rappaport L, et al. Among authors: tome f. FEBS Lett. 1988 Apr 25;231(2):421-5. doi: 10.1016/0014-5793(88)80863-9. FEBS Lett. 1988. PMID: 3360147 Free article.

4

X-linked vacuolated myopathy: complement membrane attack complex on surface membrane of injured muscle fibers.

Villanova M, Louboutin JP, Chateau D, Eymard B, Sagniez M, Tomé FM, Fardeau M. Villanova M, et al. Among authors: tome fm. Ann Neurol. 1995 May;37(5):637-45. doi: 10.1002/ana.410370514. Ann Neurol. 1995. PMID: 7755359

5

PCR based mutation screening of the laminin alpha2 chain gene (LAMA2): application to prenatal diagnosis and search for founder effects in congenital muscular dystrophy.

Guicheney P, Vignier N, Zhang X, He Y, Cruaud C, Frey V, Helbling-Leclerc A, Richard P, Estournet B, Merlini L, Topaloglu H, Mora M, Harpey JP, Haenggeli CA, Barois A, Hainque B, Schwartz K, Tomé FM, Fardeau M, Tryggvason K. Guicheney P, et al. Among authors: tome fm. J Med Genet. 1998 Mar;35(3):211-7. doi: 10.1136/jmg.35.3.211. J Med Genet. 1998. PMID: 9541105 Free PMC article.

6

Identification of a new locus for a peculiar form of congenital muscular dystrophy with early rigidity of the spine, on chromosome 1p35-36.

Moghadaszadeh B, Desguerre I, Topaloglu H, Muntoni F, Pavek S, Sewry C, Mayer M, Fardeau M, Tomé FM, Guicheney P. Moghadaszadeh B, et al. Among authors: tome fm. Am J Hum Genet. 1998 Jun;62(6):1439-45. doi: 10.1086/301882. Am J Hum Genet. 1998. PMID: 9585610 Free PMC article.

7

Hereditary inclusion body myopathies.

Tomé FM, Fardeau M. Tomé FM, et al. Curr Opin Neurol. 1998 Oct;11(5):453-9. doi: 10.1097/00019052-199810000-00007. Curr Opin Neurol. 1998. PMID: 9847994 Review.

8

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

9

Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy.

Helbling-Leclerc A, Zhang X, Topaloglu H, Cruaud C, Tesson F, Weissenbach J, Tomé FM, Schwartz K, Fardeau M, Tryggvason K, et al. Helbling-Leclerc A, et al. Among authors: tome fm. Nat Genet. 1995 Oct;11(2):216-8. doi: 10.1038/ng1095-216. Nat Genet. 1995. PMID: 7550355

10

Ultrastructure of muscle and neuromuscular junction: an historical survey of the early French contributions.

Fardeau M, Tomé FM. Fardeau M, et al. Among authors: tome fm. Biol Cell. 1994;80(2-3):115-7. doi: 10.1111/j.1768-322x.1994.tb00918.x. Biol Cell. 1994. PMID: 8087060 Review. No abstract available.

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