Fardeau M - Search Results

1

Human desmin gene: cDNA sequence, regional localization and exclusion of the locus in a familial desmin-related myopathy.

Vicart P, Dupret JM, Hazan J, Li Z, Gyapay G, Krishnamoorthy R, Weissenbach J, Fardeau M, Paulin D. Vicart P, et al. Among authors: fardeau m. Hum Genet. 1996 Oct;98(4):422-9. doi: 10.1007/s004390050233. Hum Genet. 1996. PMID: 8792816

2

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: fardeau m. Nat Genet. 1998 Sep;20(1):92-5. doi: 10.1038/1765. Nat Genet. 1998. PMID: 9731540

3

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: fardeau m. Nat Genet. 1995 Oct;11(2):216-8. doi: 10.1038/ng1095-216. Nat Genet. 1995. PMID: 7550355

4

The oculopharyngeal muscular dystrophy locus maps to the region of the cardiac alpha and beta myosin heavy chain genes on chromosome 14q11.2-q13.

Brais B, Xie YG, Sanson M, Morgan K, Weissenbach J, Korczyn AD, Blumen SC, Fardeau M, Tomé FM, Bouchard JP, et al. Brais B, et al. Among authors: fardeau m. Hum Mol Genet. 1995 Mar;4(3):429-34. doi: 10.1093/hmg/4.3.429. Hum Mol Genet. 1995. PMID: 7795598

5

[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. Rev Neurol (Paris). 2000 May;156(5):497-504. Rev Neurol (Paris). 2000. PMID: 10844369 French.

6

Glucocorticoid treatment induces expression of small heat shock proteins in human satellite cell populations: consequences for a desmin-related myopathy involving the R120G alpha B-crystallin mutation.

Nédellec P, Edling Y, Perret E, Fardeau M, Vicart P. Nédellec P, et al. Among authors: fardeau m. Neuromuscul Disord. 2002 Jun;12(5):457-65. doi: 10.1016/s0960-8966(01)00306-6. Neuromuscul Disord. 2002. PMID: 12031619

7

Substitution of a conserved cysteine-996 in a cysteine-rich motif of the laminin alpha2-chain in congenital muscular dystrophy with partial deficiency of the protein.

Nissinen M, Helbling-Leclerc A, Zhang X, Evangelista T, Topaloglu H, Cruaud C, Weissenbach J, Fardeau M, Tomé FM, Schwartz K, Tryggvason K, Guicheney P. Nissinen M, et al. Among authors: fardeau m. Am J Hum Genet. 1996 Jun;58(6):1177-84. Am J Hum Genet. 1996. PMID: 8651294 Free PMC article.

8

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: fardeau m. Am J Hum Genet. 1998 Jun;62(6):1439-45. doi: 10.1086/301882. Am J Hum Genet. 1998. PMID: 9585610 Free PMC article.

9

Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies.

Ferreiro A, Quijano-Roy S, Pichereau C, Moghadaszadeh B, Goemans N, Bönnemann C, Jungbluth H, Straub V, Villanova M, Leroy JP, Romero NB, Martin JJ, Muntoni F, Voit T, Estournet B, Richard P, Fardeau M, Guicheney P. Ferreiro A, et al. Among authors: fardeau m. Am J Hum Genet. 2002 Oct;71(4):739-49. doi: 10.1086/342719. Epub 2002 Aug 21. Am J Hum Genet. 2002. PMID: 12192640 Free PMC article.

10

Genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy in a genetic isolate (Amish) and evidence for a new locus.

Allamand V, Broux O, Bourg N, Richard I, Tischfield JA, Hodes ME, Conneally PM, Fardeau M, Jackson CE, Beckmann JS. Allamand V, et al. Among authors: fardeau m. Hum Mol Genet. 1995 Mar;4(3):459-63. doi: 10.1093/hmg/4.3.459. Hum Mol Genet. 1995. PMID: 7795603

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