Arthrogryposis in children: Etiological assessments and preparation of a protocol for etiological investigations von Wallach, E., Walther- Louvier, U., Espil-Taris, C., Rivier, F., Baudou, E., Cances, C.

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A new score combining compound muscle action potential (CMAP) amplitudes and motor score is predictive of motor outcome after AVXS-101 (Onasemnogene Abeparvovec) SMA therapy von Barrois, R., Barnerias, C., Deladrière, E., Leloup-Germa, V., Tervil, B., Audic, F., Boulay, C., Cances, C., Cintas, P., Davion, J.B., Espil-Taris, C., Manel, V., Pereon, Y., Piarroux, J., Quijano Roy, S., Vuillerot, C., Walther-Louvier, U., Desguerre, I., Gitiaux, C.

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Severe cardiopathy in a patient with a new mutation of the fukutin gene with limb girdle phenotype von Juntas Morales, R, Walther Louvier, U, Nectoux, J, Leturc, F, Bouchet-Seraphin, C, Leboucq, N, Rigau, V, Rivier, F

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Titin gene mutations presenting as centronuclear myophathies von Juntas Morales, R, Walther Louvier, U, Cances, C, Rigau, V, Rivier, F, Cossee, M, Zenagui, R, Peyroulan, D

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Infantile facioscapulohumeral muscular dystrophy (FSHD): A severe multi-systemic disease von Walther-Louvier, U, Meyer, P, Mercier, M, Manel, V, Cances, C, Espil-Taris, C, Richelme, C, Jeanpierre, M, Rivier, F

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Partial acute transverse myelitis is a predictor of multiple sclerosis in children von Meyer, P, Leboucq, N, Molinari, N, Roubertie, A, Carneiro, M, Walther-Louvier, U, Cuntz-Shadfar, D, Leydet, J, Cheminal, R, Cambonie, G, Echenne, B, Rondouin, G, Deiva, K, Mikaeloff, Y, Rivier, F

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Pediatric cerebral venous thrombosis: Description and prognosis according to the physiopathological mechanism in a population of 40 cases von Durand, S, Meyer, P, Leboucq, N, Langlois, C, Carneiro, M, Roubertie, A, Walther-Louvier, U, Cuntz, D, Leydet, J, Plan, O, Combes, C, Cambonie, G, Rivier, F

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Congenital neuromuscular diseases with neonatal respiratory failure excluding myotonic dystrophy type 1 and infantile spinal muscular atrophy. Diagnosis strategy according to a 19-... von Raignoux, J, Walther-Louvier, U, Espil, C, Berthomieu, L, Uro-Coste, E, Rivier, F, Cances, C

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Efficiency of targeted NGS on myopathies and muscular dystrophy genes: Importance of an optimized strategy of capture, sequencing, bioinformatic analyses and multidisciplinary appr... von Zenagui, R, Lacourt, D, Juntas-Morales, R, Sole, G, Cances, C, River, F, Renard, D, Walther-Louvier, U, Ferrer-Monasterio, X, Espil, C, Arné-Bes, M, Cintas, P, Uro-Coste, E, Martin Negrier, M, Rigau, V, Bieth, E, Goizet, C, Claustres, M, Koenig, M, Cossee, M

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PP05.17 – 2757: Acute acquired nontraumatic VIth cranial nerve palsies in children: about 22 cases von Meyer, P, Hedjem, N, Daien, V, Roubertie, A, Walther Louvier, U, Shadfar, D. Cuntz, Rondouin, G, Rivier, F

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Long‐term follow‐up of 64 children with classical infantile‐onset Pompe disease since 2004: A French real‐life observational study von Tardieu, Marine, Cudejko, Céline, Cano, Aline, Hoebeke, Célia, Bernoux, Delphine, Goetz, Violette, Pichard, Samia, Brassier, Anaïs, Schiff, Manuel, Feillet, François, Rollier, Paul, Mention, Karine, Dobbelaere, Dries, Fouilhoux, Alain, Espil‐Taris, Caroline, Eyer, Didier, Huet, Frédéric, Walther‐Louvier, Ulrike, Barth, Magalie, Chevret, Laurent, Kuster, Alice, Lefranc, Jérémie, Neveu, Julien, Pitelet, Gaele, Ropars, Juliette, Rivier, François, Roubertie, Agathe, Touati, Guy, Vanhulle, Catherine, Tardieu, Emilie, Caillaud, Catherine, Froissart, Roseline, Champeaux, Murielle, Labarthe, François, Chabrol, Brigitte

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15P Prospective, longitudinal study of the natural history of paediatric patients in France with LAMA2 related dystrophies von Seferian, A., Gasnier, E., Peretti, M., Duchene, D., Lagrue, E., Vuillerot, C., Walther-Louvier, U., García-de-la-Banda, M. Gómez, Grange, A., Carlier, R., Reyngoudt, H., Marty, B., Colella, M., Quijano-Roy, S.

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SMA - CLINICAL von De Lucia, S., Phelep, A., Seferian, A., Foyer, P., Walther-Louvier, U., Durigneux, J., Cances, C., Ropars, J., Vuillerot, C., Servais, L., Boespflug, O.

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SMA - CLINICAL: P.85 Evolution at 18 months of SMA type 1 patients treated with nusinersen von De Lucia, S., Phelep, A., Seferian, A., Foyer, P., Walther-Louvier, U., Durigneux, J., Cances, C., Ropars, J., Vuillerot, C., Servais, L., Boespflug, O.

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P.79 - Titin gene mutations presenting as centronuclear myophathies von Juntas Morales, R., Walther Louvier, U., Cances, C., Rigau, V., Rivier, F., Cossee, M., Zenagui, R., Peyroulan, D.

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P.255 - Severe cardiopathy in a patient with a new mutation of the fukutin gene with limb girdle phenotype von Juntas Morales, R., Walther Louvier, U., Nectoux, J., Leturc, F., Bouchet-Seraphin, C., Leboucq, N., Rigau, V., Rivier, F.

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P.237Functional analyses and phenotype-genotype correlation studies in patients suspected of titinopathy von Juntas Morales, R., Perrin, A., Walther-Louvier, U., Cintas, P., Sole, G., Espil, C., Cances, C., Renard, D., Arne-Bes, M., Rigau, V., Maues de Paula, A., Uro-coste, E., Martine Negrier, M., Leboucq, N., Thorel, D., Theze, C., Pegeot, H., Koenig, M., Cossee, M.

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P.329 - Efficiency of next generation sequencing of a large panel of genes for diagnosis of children with myopathies and muscular dystrophies, especially for early and/or typical c... von Lacourt, D., Yauy, K., Walther-Louvier, U., Juntas-Morales, R., Cances, C., Espil, C., Sole, G., Arné-Bes, M., Cintas, P., Uro-coste, E., Negrier, M. Martin, Rigau, V., Bieth, E., Goizet, C., Koenig, M., Rivier, F., Cossée, M.

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Efficiency of next generation sequencing of a large panel of genes for diagnosis of children with myopathies and muscular dystrophies, especially for early and/or typical cases von Lacourt, D., Yauy, K., Walther-Louvier, U., Juntas-Morales, R., Cances, C., Espil, C., Sole, G., Arné-Bes, M., Cintas, P., Uro-coste, E., Negrier, M. Martin, Rigau, V., Bieth, E., Goizet, C., Koenig, M., Rivier, F., Cossée, M.

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NEXT GENERATION SEQUENCING AND EXPERIMENTAL MYOLOGY: P.372Next generation sequencing: new phenotype-genotype correlations von Morales, R. Juntas, Cances, C., Cintas, P., Renard, D., Sole, G., Espil, C., Rivier, F., Louvier, U. Walther, Uro-Coste, E., Perrin, A., Leboucq, N., Rigau, V., Arne-Bes, M., Duval, F., Acket, B., Peyroulan, D., Theze, C., Pegeot, H., Cossee, M.

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