AELIP

Asociación AELIP

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Publicaciones

1. Bertrand AT, Renou L, Papadopoulos A, Beuvin M, Lacène E, Massart C, Ottolenghi C, Decostre V, Maron S, Schlossarek S, Cattin ME, Carrier L, Malissen M, Arimura T, Bonne G. DelK32-lamin A/C has abnormal location and induces incomplete tissue maturation and severe metabolic defects leading to premature death (2012) Hum Mol Genet. 21(5):1037-48

2. 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. Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation (2011) Eur J Hum Genet. 19(6):647-54

3. Wu W, Muchir A, Shan J, Bonne G, Worman HJ. Mitogen-activated protein kinase inhibitors improve heart function and prevent fibrosis in cardiomyopathy caused by mutation in lamin A/C gene (2011) Circulation. 123(1):53-61

4. Granger B, Gueneau L, Drouin-Garraud V, Pedergnana V, Gagnon F, Ben Yaou R, Tezenas du Montcel S, Bonne G. Modifier locus of the skeletal muscle involvement in Emery-Dreifuss muscular dystrophy (2011) Hum Genet. 129(2):149-59

5. Meune C, Wahbi K, Gobeaux C, Duboc D, Pecker F, Bonne G. N-terminal Pro brain natriuretic peptide is a reliable biomarker of reduced myocardial contractility in patients with lamin A/C gene mutations (2011) Int J Cardiol. 151(2):160-3

6. Quijano-Roy S, Mbieleu B, Bönnemann CG, Jeannet PY, Colomer J, Clarke NF, Cuisset JM, Roper H, De Meirleir L, D'Amico A, Ben Yaou R, Nascimento A, Barois A, Demay L, Bertini E, Ferreiro A, Sewry CA, Romero NB, Ryan M, Muntoni F, Guicheney P, Richard P, Bonne G*, Estournet B*. De novo LMNA mutations cause a new form of congenital muscular dystrophy (2008) Ann Neurol. 64(2):177-86. (*Co-senior authors).

7. Foisner R, Aebi U, Bonne G, Gruenbaum Y, Novelli G. 141st ENMC International Workshop inaugural meeting of the EURO-Laminopathies project "Nuclear Envelope-linked Rare Human Diseases: From Molecular Pathophysiology towards Clinical Applications", 10-12 March 2006, Naarden, The Netherlands (2007) Neuromuscul Disord. 17(8):655-60.

8. van der Kooi AJ, Bonne G, Eymard B, Duboc D, Talim B, van der Valk M, Reiss P, Richard P, Demay L, Merlini L, Schwartz K, Busch HFM, de Visser M: Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy. Neurology, 2002, 59:620-623

9. Novelli, G; Muchir, A; Sangiuolo, F; Helbling-Leclerc, A; Rosaria d'Apice, M; Massart, C; Capon, F; Sbraccia, P; Federici, M; Lauro, R; Tudisco, C; Pallota, R; Scarano, G; Dallapiccola, B; Merlini, L; Bonne, G. Mandibuloacral dysplasia is caused by a mutation in LMNA encoding lamins A/C. Am J Hum Genet 2002;71: 426-431.

10. Bonne G, Di Barletta MR, Varnous S, Bécane H-M, Hammouda E-H, Merlini L, Muntoni F, Greenberg CR, Gary F, Urtizberea J-A, Duboc D, Fardeau M, Toniolo D, Schwartz K:Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss dystrophy. Nature Genet, 1999, 21:285-288.

Publicaciones
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