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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. Among authors: estournet b. C R Acad Sci III. 1994 Apr;317(4):351-7. C R Acad Sci III. 1994. PMID: 8000914
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: estournet b. 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.
Genetic heterogeneity of congenital muscular dystrophy with rigid spine syndrome.
Moghadaszadeh B, Topaloglu H, Merlini L, Muntoni F, Estournet B, Sewry C, Naom I, Barois A, Fardeau M, Tomé FM, Guicheney P. Moghadaszadeh B, et al. Among authors: estournet b. Neuromuscul Disord. 1999 Oct;9(6-7):376-82. doi: 10.1016/s0960-8966(99)00051-6. Neuromuscul Disord. 1999. PMID: 10545040
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: estournet b. 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.
Congenital muscular dystrophy phenotype with neuromuscular spindles excess in a 5-year-old girl caused by HRAS mutation.
Bolocan A, Quijano-Roy S, Seferian AM, Baumann C, Allamand V, Richard P, Estournet B, Carlier R, Cavé H, Gartioux C, Blin N, Le Moing AG, Gidaro T, Germain DP, Fardeau M, Voit T, Servais L, Romero NB. Bolocan A, et al. Among authors: estournet b. Neuromuscul Disord. 2014 Nov;24(11):993-8. doi: 10.1016/j.nmd.2014.06.437. Epub 2014 Jun 28. Neuromuscul Disord. 2014. PMID: 25070542
78 results