CORE-ROD MYOPATHY CAUSED BY MUTATIONS IN THE NEBULIN GENE von ROMERO, N. B, LEHTOKARI, V.-L, LUNARDI, J, FARDEAU, M, PELIN, K, WALLGREN-PETTERSSON, C, QUIJANO-ROY, S, MONNIER, N, CLAEYS, K. G, CARLIER, R. Y, PELLEGRINI, N, ORLIKOWSKI, D, BAROIS, A, LAING, N. G

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

The CHRNE 1293insG founder mutation is a frequent cause of congenital myasthenia in North Africa von RICHARD, P, GAUDON, K, HAMRI, A, NOUIOUA, S, TAZIR, M, MAYER, M, DESNUELLE, C, BAROIS, A, CHABROL, B, POUGET, J, KOENIG, J, GOUIDER-KHOUJA, N, HADDAD, H, HENTATI, F, EYMARD, B, HANTAÏ, D, BEN AMMAR, A, GENIN, E, BAUCHE, S, PATURNEAU-JOUAS, M, MÜLLER, J. S, LOCHMÜLLER, H, GRID, D

Volltext

Spinal penetration index: new three-dimensional quantified reference for lordoscoliosis and other spinal deformities von Dubousset, Jean, Wicart, Ph, Pomero, V., Barois, A., Estournet, B.

Volltext

Characteristics and progression of patients with frontotemporal dementia in a regional memory clinic network von Leroy, Mélanie, Bertoux, Maxime, Skrobala, Emilie, Mode, Elisa, Adnet-Bonte, Catherine, Le Ber, Isabelle, Bombois, Stéphanie, Cassagnaud, Pascaline, Chen, Yaohua, Deramecourt, Vincent, Lebert, Florence, Mackowiak, Marie Anne, Sillaire, Adeline Rollin, Wathelet, Marielle, Pasquier, Florence, Lebouvier, Thibaud

Volltext

Whole body muscle MRI protocol: Pattern recognition in early onset NM disorders von Quijano-Roy, Susana, Avila-Smirnow, Daniela, Carlier, Robert Y

Volltext

P5.62 Garches muscle Whole-Body MRI protocol: Pattern recognition in early onset neuromuscular disorders von Avila-Smirnow, D, Quijano-Roy, S, Allamand, V, Bonne, G, Biancalana, V, Dubourg, O, Essid, N, Ferreiro, A, Guicheney, P, Lebreton, C, Hamida, M, Ioos, C, Leturcq, F, Monnier, N, Rubinsztajn, R, Romero, N.B, Barois, A, Safa, D, Viollet, L, Wehbi, S, Richard, P, Mompoint, D, Estournet, B, Carlier, R.Y

Volltext

G.P.1.02 Phenotypic spectrum of core-rod myopathy caused by dominant or recessive RYR1 mutations von Claeys, K.G, Monnier, N, Laforet, P, Brochier, G, Ferreiro, A, Barois, A, Eymard, B, Lunardi, J, Fardeau, M, Romero, N.B

Volltext

Possible founder effect of rapsyn N88K mutation and identification of novel rapsyn mutations in congenital myasthenic syndromes von Richard, P, Gaudon, K, Andreux, F, Yasaki, E, Prioleau, C, Bauché, S, Barois, A, Ioos, C, Mayer, M, Routon, M C, Mokhtari, M, Leroy, J P, Fournier, E, Hainque, B, Koenig, J, Fardeau, M, Eymard, B, Hantaï, D

Volltext

A gene for an autosomal recessive lower motor neuron disease with childhood onset maps to 1p36 von Maystadt, I, Zarhrate, M, Leclair-Richard, D, Estournet, B, Barois, A, Renault, F, Routon, M-C, Durand, M-C, Lefebvre, S, Munnich, A, Verellen-Dumoulin, C, Viollet, L

Volltext

Homogeneous phenotype of the gypsy limb-girdle MD with the γ-sarcoglycan C283Y mutation von MERLINI, L, KAPLAN, J.-C, KALAYDJIEVA, L, LETURCQ, F, LEVI-GOMES, A, TOUTAIN, A, TOURNEV, I, URTIZBEREA, A, VALLAT, J.-M, VOIT, T, WARTER, J.-M, NAVARRO, C, BAROIS, A, BONNEAU, D, BRASA, J, ECHENNE, B, GALLANO, P, JARRE, L, JEANPIERRE, M

Volltext

‘Cap myopathy’: Case report of a family von Cuisset, J.M., Maurage, C.A., Pellissier, J.F., Barois, A., Urtizberea, J.A., Laing, N., Tajsharghi, H., Vallée, L.

Volltext

Congenital muscular dystrophy with primary partial laminin α2 chain deficiency : Molecular study von HE, Y, JONES, K. J, NORTH, K. N, GUICHENEY, P, VIGNIER, N, MORGAN, G, CHEVALLAY, M, BAROIS, A, ESTOURNET-MATHIAUD, B, HORI, H, MIZUTA, T, TOME, F. M. S

Volltext

Congenital Myasthenic Syndrome due to Rapsyn Deficiency: Three Cases with Arthrogryposis and Bulbar Symptoms von Ioos, C., Barois, A., Richard, P., Eymard, B., Hantaï, D., Estournet-Mathiaud, B.

Volltext

Respiratory Capacity Course in Patients With Infantile Spinal Muscular Atrophy von Ioos, Christine, Leclair-Richard, Danièle, Mrad, Slah, Barois, Annie, Estournet-Mathiaud, Brigitte

Volltext

Diaphragmatic paralysis in children: A review of 11 cases von Commare, M. C., Kurstjens, S. P., Barois, A.

Volltext

Phase i study of dystrophin plasmid-based gene therapy in Duchenne/Becker muscular dystrophy von ROMERO, Norma B, BRAUN, Serge, BOCH, Anne-Laure, LEJEAN, Lise, THIOUDELLET, Christine, MOUROT, Brigitte, ESCOT, Christophe, CHOQUEL, Aurore, RECAN, Dominique, KAPLAN, Jean-Claude, DICKSON, George, KLATZMANN, David, BENVENISTE, Olivier, MOLINIER-FRENCKEL, Valérie, GUILLET, Jean-Gérard, SQUIBAN, Patrick, HERSON, Serge, FARDEAU, Michel, LETURCQ, France, HOGREL, Jean-Yves, MORRIS, Glenn E, BAROIS, Annie, EYMARD, Bruno, PAYAN, Christine, ORTEGA, Véronique

Volltext

C.P.1.14 Early-onset myopathy with cardiac involvement not-related to mutations in M-line titin: An emerging phenotype? von Vincitorio, C, Carmignac, V, Beuvin, M, Estournet, B, Quijano-Roy, S, Barois, A, Boyer, F, Chaix, Y, Eymard, B, Goemans, N, Iannaccone, S, Lazaro, L, Menard, D, Straub, V, Richard, P, Viollet, L, Bertini, E, Ferreiro, A

Volltext

G.P.5.02 LMNA is responsible for a recognisable form of congenital muscular dystrophy associated with selective axial muscle weakness and progressive course (L-CMD) von Quijano-Roy, S, Mbieleu, B, Bönnemann, C, Jeannet, P, Colomer, J, Clarke, N, Cuisset, J, Roper, H, De Meirleir, L, D’Amico, A, Ben Yaou, R, Barois, A, Demay, L, Romero, N, Sewry, C, Bertini, E, Ferreiro, A, Muntoni, F, Guicheney, P, Richard, P, Bonne, G, Estournet, B

Volltext

C.P.2.03 Predictive factors of severity and management of respiratory and orthopaedic complications in 16 Ullrich CMD patients von Quijano-Roy, S, Allamand, V, Riahi, N, Gartioux, C, Briñas, L, Leclair-Richard, D, Zeller, R, Ledeuil, C, Commare, M, Viollet, L, Bönnemann, C, Mayer, M, Chaigne, D, Essid, N, Renault, F, Barois, A, Ferreiro, A, Romero, N, Richard, P, Guicheney, P, Estournet, B

Volltext