Nuclear Lamins: Laminopathies and Their Role in Premature Ageing von Broers, J. L. V, Ramaekers, F. C. S, Bonne, G, Yaou, R. Ben, Hutchison, C. J

Volltext

Dunnigan lipodystrophy syndrome: French National Diagnosis and Care Protocol (PNDS; Protocole National de Diagnostic et de Soins) von Mosbah, H, Donadille, B, Vatier, C, Janmaat, S, Atlan, M, Badens, C, Barat, P, Béliard, S, Beltrand, J, Ben Yaou, R, Bismuth, E, Boccara, F, Cariou, B, Chaouat, M, Charriot, G, Christin-Maitre, S, De Kerdanet, M, Delemer, B, Disse, E, Dubois, N, Eymard, B, Fève, B, Lascols, O, Mathurin, P, Nobécourt, E, Poujol-Robert, A, Prevost, G, Richard, P, Sellam, J, Tauveron, I, Treboz, D, Vergès, B, Vermot-Desroches, V, Wahbi, K, Jéru, I, Vantyghem, M C, Vigouroux, C

Volltext

Disease severity in dominant Emery Dreifuss is increased by mutations in both emerin and desmin proteins von Muntoni, F., Bonne, G., Goldfarb, L. G., Mercuri, E., Piercy, R. J., Burke, M., Yaou, R. Ben, Richard, P., Récan, D., Shatunov, A., Sewry, C. A., Brown, S. C.

Volltext

Heart–hand syndrome of Slovenian type: a new kind of laminopathy von Renou, L, Stora, S, Yaou, R Ben, Volk, M, Šinkovec, M, Demay, L, Richard, P, Peterlin, B, Bonne, G

Volltext

Corticosteroid treatment in early-onset lamin A/C related muscular dystrophies von Dabaj, I., Ben Yaou, R., Bönnemann, C., Nascimento, A., Rutkowski, A., Erazo Torricelli, R., Muntoni, F., Lagrue, E., Dowling, J., Bushby, K., Casteglioni, C., Kleinsteuber, K., Lorenzo, M., Ishiyama, A., Sejersen, T., Gurgel-Giannetti, J., Monges, S., Bonne, G., Quijano-roy, S.

Volltext

Modifier locus of the skeletal muscle involvement in Emery-Dreifuss muscular dystrophy von Granger, B, Gueneau, L, Drouin-Garraud, V, Pedergnana, V, Gagnon, F, Ben Yaou, R, Tezenas du Montcel, S, Bonne, G

Volltext

Multitissular involvement in a family with LMNA and EMD mutations : Role of digenic mechanism? von BEN YAOU, R, TOUTAIN, A, LITIM, K. E, RAHMOUN-CHIALI, N, RICHARD, P, BABUTY, D, RECAN-BUDIARTHA, D, BONNE, G, ARIMURA, T, DEMAY, L, MASSART, C, PECCATE, C, MUCHIR, A, LLENSE, S, DEBURGRAVE, N, LETURCQ, F

Volltext

Differentiating Emery-Dreifuss muscular dystrophy and collagen VI-related myopathies using a specific CT scanner pattern von Deconinck, N, Dion, E, Yaou, R. Ben, Ferreiro, A, Eymard, B, Briñas, L, Payan, C, Voit, T, Guicheney, P, Richard, P, Allamand, V, Bonne, G, Stojkovic, T

Volltext

The G526R glycyl-tRNA synthetase gene mutation in distal hereditary motor neuropathy type V von DUBOURG, O, AZZEDINE, H, BEN YAOU, R, POUGET, J, BAROIS, A, MEININGER, V, BOUTEILLER, D, RUBERG, M, BRICE, A, LEGUERN, E

Volltext

A new mutation of the lamin A/C gene leading to autosomal dominant axonal neuropathy, muscular dystrophy, cardiac disease, and leuconychia von Goizet, C, Ben Yaou, R, Demay, L, Richard, P, Bouillot, S, Rouanet, M, Hermosilla, E, Le Masson, G, Lagueny, A, Bonne, G, Ferrer, X

Volltext

Cardiometabolic assessment of lamin A/C gene mutation carriers: a phenotype–genotype correlation von Kwapich, M., Lacroix, D., Espiard, S., Ninni, S., Brigadeau, F., Kouakam, C., Degroote, P., Laurent, J.M., Tiffreau, V., Jannin, A., Humbert, L., Ben Hamou, A., Tard, C., Ben Yaou, R., Lamblin, N., Klug, D., Richard, P., Vigouroux, C., Bonne, G., Vantyghem, M.C.

Volltext

Cardiac arrhythmia and late-onset muscle weakness caused by a myofibrillar myopathy with unusual histopathological features due to a novel missense mutation in FLNC von Avila-Smirnow, D., Gueneau, L., Batonnet-Pichon, S., Delort, F., Bécane, H.-M., Claeys, K., Beuvin, M., Goudeau, B., Jais, J.-P., Nelson, I., Richard, P., Ben Yaou, R., Romero, N.B., Wahbi, K., Mathis, S., Voit, T., Furst, D., van der Ven, P., Gil, R., Vicart, P., Fardeau, M., Bonne, G., Behin, A.

Volltext

Muscle diseases with prominent joint contractures: Main entities and diagnostic strategy von Eymard, B., Ferreiro, A., Ben Yaou, R., Stojkovic, T.

Volltext

Exome sequencing identifies novel truncating TTN mutations with Emery–Dreifuss like muscular dystrophy and secondary calpain3 deficiency without cardiac abnormality von de Cid, R, Ben Yaou, R, Roudaut, C, Baulande, S, Leturcq, F, Bonne, G, Udd, B, Romero, N, Charton, K, Malfatti, E, Nelson, I, Eymard, B, Richard, I

Volltext

G.P.181 von Ben Yaou, R, Nectoux, J.U.L, Iserin, F.R.A, Ould Amar, S.A.L, Romero, N.O.R, Varnous, S.H.A, Leturcq, F.R.A, Laforet, P.A.S

Volltext

G.P.142 von Ben Yaou, R, Gerard, M, Chami, K, Sehier, A, Belin, A, Labombarda, F, Richard, P, Bonne, G, Leturcq, F, Chapon, F

Volltext

P.5.16 Predominant right ventricular involvement in patients with laminopathies von Ben Yaou, R, Wahbi, K, Meune, C, Fressart, V, Feldman, L, Behin, A, Pénisson-Besnier, I, Urtizberea, J.A, Eymard, B, Richard, P, Bonne, G, Duboc, D

Volltext

P2.41 From Emery-Dreifuss muscular dystrophy to striated muscle laminopathies. A 12 years retrospective von Ben Yaou, R, Demay, L, Chikhaoui, K, Hamroun, D, Béroud, C, Richard, P, Bonne, G, F. French EDMD network

Volltext

D.P.2 Next generation sequencing after selected DNA capture as a tool for molecular diagnosis of neuromuscular disorders von Nelson, I, Allamand, V, Ben Yaou, R, Baulande, S, Criqui, A, De Cid Ibeas, R, Richard, I, Richard, P, Voit, T, Lévy, N, Bonne, G

Volltext

VP.34 Two-year follow-up of muscle strength and function in patients with glycogen storage disease type IIIa von Decostre, V., Masingue, M., Laforêt, P., Yaou, R. Ben, Labrune, P., Hogrel, J.

Volltext