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Page 1
Truncated prelamin A expression in HGPS-like patients: a transcriptional study.
Barthélémy F, Navarro C, Fayek R, Da Silva N, Roll P, Sigaudy S, Oshima J, Bonne G, Papadopoulou-Legbelou K, Evangeliou AE, Spilioti M, Lemerrer M, Wevers RA, Morava E, Robaglia-Schlupp A, Lévy N, Bartoli M, De Sandre-Giovannoli A. Barthélémy F, et al. Among authors: bonne g. Eur J Hum Genet. 2015 Aug;23(8):1051-61. doi: 10.1038/ejhg.2014.239. Epub 2015 Feb 4. Eur J Hum Genet. 2015. PMID: 25649378 Free PMC article.
Emery-Dreifuss muscular dystrophy.
Helbling-Leclerc A, Bonne G, Schwartz K. Helbling-Leclerc A, et al. Among authors: bonne g. Eur J Hum Genet. 2002 Mar;10(3):157-61. doi: 10.1038/sj.ejhg.5200744. Eur J Hum Genet. 2002. PMID: 11973618 Review.
LMNA mutations in atypical Werner's syndrome.
Bonne G, Levy N. Bonne G, et al. Lancet. 2003 Nov 8;362(9395):1585-6; author reply 1586. doi: 10.1016/S0140-6736(03)14761-7. Lancet. 2003. PMID: 14615129 No abstract available.
Mouse model carrying H222P-Lmna mutation develops muscular dystrophy and dilated cardiomyopathy similar to human striated muscle laminopathies.
Arimura T, Helbling-Leclerc A, Massart C, Varnous S, Niel F, Lacène E, Fromes Y, Toussaint M, Mura AM, Keller DI, Amthor H, Isnard R, Malissen M, Schwartz K, Bonne G. Arimura T, et al. Among authors: bonne g. Hum Mol Genet. 2005 Jan 1;14(1):155-69. doi: 10.1093/hmg/ddi017. Epub 2004 Nov 17. Hum Mol Genet. 2005. PMID: 15548545
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: bonne g. 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.
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: bonne g. 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.
Detection of TRIM32 deletions in LGMD patients analyzed by a combined strategy of CGH array and massively parallel sequencing.
Nectoux J, de Cid R, Baulande S, Leturcq F, Urtizberea JA, Penisson-Besnier I, Nadaj-Pakleza A, Roudaut C, Criqui A, Orhant L, Peyroulan D, Ben Yaou R, Nelson I, Cobo AM, Arné-Bes MC, Uro-Coste E, Nitschke P, Claustres M, Bonne G, Lévy N, Chelly J, Richard I, Cossée M. Nectoux J, et al. Among authors: bonne g. Eur J Hum Genet. 2015 Jul;23(7):929-34. doi: 10.1038/ejhg.2014.223. Epub 2014 Oct 29. Eur J Hum Genet. 2015. PMID: 25351777 Free PMC article.
236 results