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Results: 1-12 |
Results: 12
A missense mutation in the exon 8 of lamin A/C gene in a Japanese case of autosomal dominant limb-girdle muscular dystrophy and cardiac conduction block
Authors: Kitaguchi, T Matsubara, S Sato, M Miyamoto, K Hirai, S Schwartz, K Bonne, G
Citation: T. Kitaguchi et al., A missense mutation in the exon 8 of lamin A/C gene in a Japanese case of autosomal dominant limb-girdle muscular dystrophy and cardiac conduction block, NEUROMUSC D, 11(6-7), 2001, pp. 542-546
COOH-terminal truncated human cardiac MyBP-C alters myosin filament organization
Authors: Sebillon, P Bonne, G Flavigny, J Venin, S Rouche, A Fiszman, M Vikstrom, K Leinwand, L Carrier, L Schwartz, K
Citation: P. Sebillon et al., COOH-terminal truncated human cardiac MyBP-C alters myosin filament organization, CR AC S III, 324(3), 2001, pp. 251-260
Skeletal muscle pathology in autosomal dominant Emery-Dreifuss muscular dystrophy with lamin A/C mutations
Authors: Sewry, CA Brown, SC Mercuri, E Bonne, G Feng, L Camici, G Morris, GE Muntoni, F
Citation: Ca. Sewry et al., Skeletal muscle pathology in autosomal dominant Emery-Dreifuss muscular dystrophy with lamin A/C mutations, NEUROP AP N, 27(4), 2001, pp. 281-290
Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B)
Authors: Muchir, A Bonne, G van der Kool, AJ van Meegen, M Baas, F Bolhuis, PA de Visser, M Schwartz, K
Citation: A. Muchir et al., Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B), HUM MOL GEN, 9(9), 2000, pp. 1453-1459
Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene
Authors: Bonne, G Mercuri, E Muchir, A Urtizberea, A Becane, 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
Citation: G. Bonne et al., Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene, ANN NEUROL, 48(2), 2000, pp. 170-180
High incidence of sudden death with conduction system and myocardial disease due to lamins A and C gene mutation
Authors: Becane, HM Bonne, G Varnous, S Muchir, A Ortega, V Hammouda, E Urtizberea, JA Lavergne, T Fardeau, M Eymard, B Weber, S Schwartz, K Duboc, D
Citation: Hm. Becane et al., High incidence of sudden death with conduction system and myocardial disease due to lamins A and C gene mutation, PACE, 23(11), 2000, pp. 1661-1666
Early and severe presentation of autosomal dominant Emery-Dreifuss muscular dystrophy (EMD2)
Authors: Mercuri, E Manzur, AY Jungbluth, H Bonne, G Muchir, A Sewry, C Schwartz, K Muntoni, F
Citation: E. Mercuri et al., Early and severe presentation of autosomal dominant Emery-Dreifuss muscular dystrophy (EMD2), NEUROLOGY, 54(8), 2000, pp. 1704-1705
First description of germline mosaicism in familial hypertrophic cardiomyopathy
Authors: Forissier, JF Richard, P Briault, S Ledeuil, C Dubourg, O Charbonnier, B Carrier, L Moraine, C Bonne, G Komajda, M Schwartz, K Hainque, B
Citation: Jf. Forissier et al., First description of germline mosaicism in familial hypertrophic cardiomyopathy, J MED GENET, 37(2), 2000, pp. 132-134
Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy
Authors: di Barletta, MR Ricci, E Galluzzi, G Tonali, P Mora, M Morandi, L Romorini, A Voit, T Orstavik, KH Merlini, L Trevisan, C Biancalana, V Housmanowa-Petrusewicz, I Bione, S Ricotti, R Schwartz, K Bonne, G Toniolo, D
Citation: Mr. Di Barletta et al., Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy, AM J HU GEN, 66(4), 2000, pp. 1407-1412
Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy
Authors: Bonne, G Di Barletta, MR Varnous, S Becane, HM Hammouda, EH Merlini, L Muntoni, F Greenberg, CR Gary, F Urtizberea, JA Duboc, D Fardeau, M Toniolo, D Schwartz, K
Citation: G. Bonne et al., Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy, NAT GENET, 21(3), 1999, pp. 285-288
Double heterozygosity for mutations in the beta-myosin heavy chain and in the cardiac myosin binding protein C genes in a family with hypertrophic cardiomyopathy
Authors: Richard, P Isnard, R Carrier, L Dubourg, O Donatien, Y Mathieu, B Bonne, G Gary, F Charron, P Hagege, A Komajda, M Schwartz, K Hainque, B
Citation: P. Richard et al., Double heterozygosity for mutations in the beta-myosin heavy chain and in the cardiac myosin binding protein C genes in a family with hypertrophic cardiomyopathy, J MED GENET, 36(7), 1999, pp. 542-545
Clinical expression in patients with hypertrophic cardiomyopathy caused bycardiac myosin-binding protein C gene mutation - Response
Authors: Charron, P Bennaceur, M Isnard, R Komajda, M Carrier, L Bonne, G Schwartz, K Camproux, AC Richard, P Hainque, B Dubourg, O Desnos, M Hagege, A Langlard, JM Bouhour, JB
Citation: P. Charron et al., Clinical expression in patients with hypertrophic cardiomyopathy caused bycardiac myosin-binding protein C gene mutation - Response, CIRCULATION, 100(4), 1999, pp. 449-449
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