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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. Among authors: tome fm. Neuromuscul Disord. 1997 May;7(3):180-6. doi: 10.1016/s0960-8966(97)00460-4. Neuromuscul Disord. 1997. PMID: 9185182
Congenital muscular dystrophy with merosin deficiency.
Tomé FM, Evangelista T, Leclerc A, Sunada Y, Manole E, Estournet B, Barois A, Campbell KP, Fardeau M. Tomé FM, et al. C R Acad Sci III. 1994 Apr;317(4):351-7. C R Acad Sci III. 1994. PMID: 8000914
Oculopharyngeal muscular dystrophy in France.
Fardeau M, Tomé FM. Fardeau M, et al. Among authors: tome fm. Neuromuscul Disord. 1997 Oct;7 Suppl 1:S30-3. doi: 10.1016/s0960-8966(97)00078-3. Neuromuscul Disord. 1997. PMID: 9392012
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.
119 results