Helbling-Leclerc A - Search Results

1

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

2

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. Am J Hum Genet. 1996 Jun;58(6):1177-84. Am J Hum Genet. 1996. PMID: 8651294 Free PMC article.

3

[Congenital muscular dystrophy with merosin deficiency: clinical, histopathological, immunocytochemical and genetic analysis].

Fardeau M, Tomé FM, Helbling-Leclerc A, Evangelista T, Ottolini A, Chevallay M, Barois A, Estournet B, Harpey JP, Fauré S, Guicheney P, Hillaire D. Fardeau M, et al. Rev Neurol (Paris). 1996 Jan;152(1):11-9. Rev Neurol (Paris). 1996. PMID: 8729391 French.

4

Readjusting the localization of merosin (laminin alpha 2-chain) deficient congenital muscular dystrophy locus on chromosome 6q2.

Helbling-Leclerc A, Topaloglu H, Tomé FM, Sewry C, Gyapay G, Naom I, Muntoni F, Dubowitz V, Barois A, Estournet B, et al. Helbling-Leclerc A, et al. C R Acad Sci III. 1995 Dec;318(12):1245-52. C R Acad Sci III. 1995. PMID: 8745640

5

Refinement of the laminin alpha2 chain locus to human chromosome 6q2 in severe and mild merosin deficient congenital muscular dystrophy.

Naom IS, D'Alessandro M, Topaloglu H, Sewry C, Ferlini A, Helbling-Leclerc A, Guicheney P, Weissenbach J, Schwartz K, Bushby K, Philpot J, Dubowitz V, Muntoni F. Naom IS, et al. J Med Genet. 1997 Feb;34(2):99-104. doi: 10.1136/jmg.34.2.99. J Med Genet. 1997. PMID: 9039983 Free PMC article.

6

Genetics of laminin alpha 2 chain (or merosin) deficient congenital muscular dystrophy: from identification of mutations to prenatal diagnosis.

Guicheney P, Vignier N, Helbling-Leclerc A, Nissinen M, Zhang X, Cruaud C, Lambert JC, Richelme C, Topaloglu H, Merlini L, Barois A, Schwartz K, Tomé FM, Tryggvason K, Fardeau M. Guicheney P, et al. Neuromuscul Disord. 1997 May;7(3):180-6. doi: 10.1016/s0960-8966(97)00460-4. Neuromuscul Disord. 1997. PMID: 9185182

7

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. 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.

8

Emery-Dreifuss muscular dystrophy.

Helbling-Leclerc A, Bonne G, Schwartz K. Helbling-Leclerc A, et al. Eur J Hum Genet. 2002 Mar;10(3):157-61. doi: 10.1038/sj.ejhg.5200744. Eur J Hum Genet. 2002. PMID: 11973618 Review.

9

The role of immunocytochemistry and linkage analysis in the prenatal diagnosis of merosin-deficient congenital muscular dystrophy.

Naom I, D'Alessandro M, Sewry C, Ferlini A, Topaloglu H, Helbling-Leclerc A, Guicheney P, Schwartz K, Akcoren Z, Dubowitz V, Muntoni F. Naom I, et al. Hum Genet. 1997 Apr;99(4):535-40. doi: 10.1007/s004390050402. Hum Genet. 1997. PMID: 9099847

10

Morphological changes in muscle fibers in oculopharyngeal muscular dystrophy.

Tomé FM, Chateau D, Helbling-Leclerc A, Fardeau M. Tomé FM, et al. Neuromuscul Disord. 1997 Oct;7 Suppl 1:S63-9. doi: 10.1016/s0960-8966(97)00085-0. Neuromuscul Disord. 1997. PMID: 9392019

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