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78 results

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Page 1
The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis.
Dieterich K, Quijano-Roy S, Monnier N, Zhou J, Fauré J, Smirnow DA, Carlier R, Laroche C, Marcorelles P, Mercier S, Mégarbané A, Odent S, Romero N, Sternberg D, Marty I, Estournet B, Jouk PS, Melki J, Lunardi J. Dieterich K, et al. Among authors: estournet b. Hum Mol Genet. 2013 Apr 15;22(8):1483-92. doi: 10.1093/hmg/dds514. Epub 2012 Dec 11. Hum Mol Genet. 2013. PMID: 23236030
Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.
Laquérriere A, Maluenda J, Camus A, Fontenas L, Dieterich K, Nolent F, Zhou J, Monnier N, Latour P, Gentil D, Héron D, Desguerres I, Landrieu P, Beneteau C, Delaporte B, Bellesme C, Baumann C, Capri Y, Goldenberg A, Lyonnet S, Bonneau D, Estournet B, Quijano-Roy S, Francannet C, Odent S, Saint-Frison MH, Sigaudy S, Figarella-Branger D, Gelot A, Mussini JM, Lacroix C, Drouin-Garraud V, Malinge MC, Attié-Bitach T, Bessieres B, Bonniere M, Encha-Razavi F, Beaufrère AM, Khung-Savatovsky S, Perez MJ, Vasiljevic A, Mercier S, Roume J, Trestard L, Saugier-Veber P, Cordier MP, Layet V, Legendre M, Vigouroux-Castera A, Lunardi J, Bayes M, Jouk PS, Rigonnot L, Granier M, Sternberg D, Warszawski J, Gut I, Gonzales M, Tawk M, Melki J. Laquérriere A, et al. Among authors: estournet b. Hum Mol Genet. 2014 May 1;23(9):2279-89. doi: 10.1093/hmg/ddt618. Epub 2013 Dec 6. Hum Mol Genet. 2014. PMID: 24319099
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.
Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores.
Monnier N, Marty I, Faure J, Castiglioni C, Desnuelle C, Sacconi S, Estournet B, Ferreiro A, Romero N, Laquerriere A, Lazaro L, Martin JJ, Morava E, Rossi A, Van der Kooi A, de Visser M, Verschuuren C, Lunardi J. Monnier N, et al. Among authors: estournet b. Hum Mutat. 2008 May;29(5):670-8. doi: 10.1002/humu.20696. Hum Mutat. 2008. PMID: 18253926
Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation.
Ben Yaou R, Navarro C, Quijano-Roy S, Bertrand AT, Massart C, De Sandre-Giovannoli A, Cadiñanos J, Mamchaoui K, Butler-Browne G, Estournet B, Richard P, Barois A, Lévy N, Bonne G. Ben Yaou R, et al. Among authors: estournet b. Eur J Hum Genet. 2011 Jun;19(6):647-54. doi: 10.1038/ejhg.2010.256. Epub 2011 Jan 26. Eur J Hum Genet. 2011. PMID: 21267004 Free PMC article.
Multi-minicore disease--searching for boundaries: phenotype analysis of 38 cases.
Ferreiro A, Estournet B, Chateau D, Romero NB, Laroche C, Odent S, Toutain A, Cabello A, Fontan D, dos Santos HG, Haenggeli CA, Bertini E, Urtizberea JA, Guicheney P, Fardeau M. Ferreiro A, et al. Among authors: estournet b. Ann Neurol. 2000 Nov;48(5):745-57. Ann Neurol. 2000. PMID: 11079538
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
Four Caucasian patients with mutations in the fukutin gene and variable clinical phenotype.
Vuillaumier-Barrot S, Quijano-Roy S, Bouchet-Seraphin C, Maugenre S, Peudenier S, Van den Bergh P, Marcorelles P, Avila-Smirnow D, Chelbi M, Romero NB, Carlier RY, Estournet B, Guicheney P, Seta N. Vuillaumier-Barrot S, et al. Among authors: estournet b. Neuromuscul Disord. 2009 Mar;19(3):182-8. doi: 10.1016/j.nmd.2008.12.005. Neuromuscul Disord. 2009. PMID: 19179078
78 results