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Page 1
Clinical heterogeneity and phenotype/genotype findings in 5 families with GYG1 deficiency.
Ben Yaou R, Hubert A, Nelson I, Dahlqvist JR, Gaist D, Streichenberger N, Beuvin M, Krahn M, Petiot P, Parisot F, Michel F, Malfatti E, Romero N, Carlier RY, Eymard B, Labrune P, Duno M, Krag T, Cerino M, Bartoli M, Bonne G, Vissing J, Laforet P, Petit FM. Ben Yaou R, et al. Among authors: bonne g. Neurol Genet. 2017 Dec 18;3(6):e208. doi: 10.1212/NXG.0000000000000208. eCollection 2017 Dec. Neurol Genet. 2017. PMID: 29264399 Free PMC article.
Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene.
Bonne G, Mercuri E, Muchir A, Urtizberea A, Bécane HM, Recan D, Merlini L, Wehnert M, Boor R, Reuner U, Vorgerd M, Wicklein EM, Eymard B, Duboc D, Penisson-Besnier I, Cuisset JM, Ferrer X, Desguerre I, Lacombe D, Bushby K, Pollitt C, Toniolo D, Fardeau M, Schwartz K, Muntoni F. Bonne G, et al. Ann Neurol. 2000 Aug;48(2):170-80. Ann Neurol. 2000. PMID: 10939567
[Autosomal dominant limb-girdle muscular dystrophy associated with conduction defects (LGMD1B): a description of 8 new families with the LMNA gene mutations].
Ben Yaou R, Bécane HM, Demay L, Laforet P, Hannequin D, Bohu PA, Drouin-Garraud V, Ferrer X, Mussini JM, Ollagnon E, Petiot P, Penisson-Besnier I, Streichenberger N, Toutain A, Richard P, Eymard B, Bonne G. Ben Yaou R, et al. Among authors: bonne g. Rev Neurol (Paris). 2005 Jan;161(1):42-54. doi: 10.1016/s0035-3787(05)84972-0. Rev Neurol (Paris). 2005. PMID: 15678000 French.
Genetics of laminopathies.
Ben Yaou R, Muchir A, Arimura T, Massart C, Demay L, Richard P, Bonne G. Ben Yaou R, et al. Among authors: bonne g. Novartis Found Symp. 2005;264:81-90; discussion 90-97, 227-30. Novartis Found Symp. 2005. PMID: 15773749 Review.
Heart involvement in lamin A/C related diseases.
Ben Yaou R, Gueneau L, Demay L, Stora S, Chikhaoui K, Richard P, Bonne G. Ben Yaou R, et al. Among authors: bonne g. Arch Mal Coeur Vaiss. 2006 Sep;99(9):848-55. Arch Mal Coeur Vaiss. 2006. PMID: 17067107 Review.
Multitissular involvement in a family with LMNA and EMD mutations: Role of digenic mechanism?
Ben Yaou R, Toutain A, Arimura T, Demay L, Massart C, Peccate C, Muchir A, Llense S, Deburgrave N, Leturcq F, Litim KE, Rahmoun-Chiali N, Richard P, Babuty D, Récan-Budiartha D, Bonne G. Ben Yaou R, et al. Among authors: bonne g. Neurology. 2007 May 29;68(22):1883-94. doi: 10.1212/01.wnl.0000263138.57257.6a. Neurology. 2007. PMID: 17536044
De novo LMNA mutations cause a new form of congenital muscular dystrophy.
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. Quijano-Roy S, et al. Among authors: bonne g. Ann Neurol. 2008 Aug;64(2):177-86. doi: 10.1002/ana.21417. Ann Neurol. 2008. PMID: 18551513
244 results