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Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy.
Gueneau L, Bertrand AT, Jais JP, Salih MA, Stojkovic T, Wehnert M, Hoeltzenbein M, Spuler S, Saitoh S, Verschueren A, Tranchant C, Beuvin M, Lacene E, Romero NB, Heath S, Zelenika D, Voit T, Eymard B, Ben Yaou R, Bonne G. Gueneau L, et al. Among authors: bertrand at. Am J Hum Genet. 2009 Sep;85(3):338-53. doi: 10.1016/j.ajhg.2009.07.015. Epub 2009 Aug 27. Am J Hum Genet. 2009. PMID: 19716112 Free PMC article.
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: bertrand at. 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.
[Laminopathies: one gene, several diseases].
Bertrand AT, Chikhaoui K, Ben Yaou R, Bonne G. Bertrand AT, et al. Biol Aujourdhui. 2011;205(3):147-62. doi: 10.1051/jbio/2011017. Epub 2011 Oct 11. Biol Aujourdhui. 2011. PMID: 21982404 Review. French.
Clinical and genetic heterogeneity in laminopathies.
Bertrand AT, Chikhaoui K, Yaou RB, Bonne G. Bertrand AT, et al. Biochem Soc Trans. 2011 Dec;39(6):1687-92. doi: 10.1042/BST20110670. Biochem Soc Trans. 2011. PMID: 22103508 Review.
Heterozygous LmnadelK32 mice develop dilated cardiomyopathy through a combined pathomechanism of haploinsufficiency and peptide toxicity.
Cattin ME, Bertrand AT, Schlossarek S, Le Bihan MC, Skov Jensen S, Neuber C, Crocini C, Maron S, Lainé J, Mougenot N, Varnous S, Fromes Y, Hansen A, Eschenhagen T, Decostre V, Carrier L, Bonne G. Cattin ME, et al. Among authors: bertrand at. Hum Mol Genet. 2013 Aug 1;22(15):3152-64. doi: 10.1093/hmg/ddt172. Epub 2013 Apr 10. Hum Mol Genet. 2013. PMID: 23575224 Free article.
Striated muscle laminopathies.
Azibani F, Muchir A, Vignier N, Bonne G, Bertrand AT. Azibani F, et al. Among authors: bertrand at. Semin Cell Dev Biol. 2014 May;29:107-15. doi: 10.1016/j.semcdb.2014.01.001. Epub 2014 Jan 15. Semin Cell Dev Biol. 2014. PMID: 24440603 Review.
129 results