Sensory neuronopathy as a major clinical feature of mitochondrial trifunctional protein deficiency in adults von Nadjar, Y., Souvannanorath, S., Maisonobe, T., Brisset, M., De Lonlay, P., Schiff, M., Viala, K., Boutron, A., Nicolas, G., Laforêt, P.

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Multiple acyl-CoA dehydrogenase deficiency (MADD) as a cause of late-onset treatable metabolic disease von Béhin, A., Acquaviva-Bourdain, C., Souvannanorath, S., Streichenberger, N., Attarian, S., Bassez, G., Brivet, M., Fouilhoux, A., Labarre-Villa, A., Laquerrière, A., Pérard, L., Kaminsky, P., Pouget, J., Rigal, O., Vanhulle, C., Eymard, B., Vianey-Saban, C., Laforêt, P.

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Exploration of muscle metabolism during exercise and muscle imaging in late-onset form of multiple acyl-coA dehydrogenase deficiency (MADD) von Souvannanorath, S, Hatem, S, Becquemin, M, Zraik, N, Bittar, R, Rigal, O, Carlier, R, Carlier, P, Laforêt, P

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Clinical and paraclinical features of phosphoglucomutase type 1 deficiency: Biochemical clues for the diagnosis von Souvannanorath, S, Laforêt, P, Bruneel, A, Morava, E, Sarret, C, Aumaitre, O, Dupre, T, Stojkovic, T

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T.P.32 von Souvannanorath, S, Maisonobe, T, Valayannopoulos, V, Nadjar, Y, Mochel, F, Boutron-Corriat, A, Brivet, M, Laforêt, P

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AUTOIMMUNE & INFLAMMATORY NMD von Souvannanorath, S., Cohen-Aubart, F., Authier, J.

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AUTOIMMUNE & INFLAMMATORY NMD: EP.06 Granulomatous myositis, perimysial pathology and immune-mediated necrotizing myopathy in anti-PL7 antisynthetase syndrome von Souvannanorath, S., Cohen-Aubart, F., Authier, J.

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568P Unraveling interferon-related autophagic signatures in immune myopathies von Authier, F., Hou, C., Periou, B., Souvannanorath, S., Malfatti, E., Martin, L.

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NEUROMUSCULAR JUNCTION RELATED DISORDERS von Souvannanorath, S., Nordine, T., Gendre, T., Lefaucheur, J., Plante-Bordeneuve, V., Authier, J.

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NEUROMUSCULAR JUNCTION RELATED DISORDERS: EP.295 Brachio-cervical inflammatory myopathy associated with myasthenia gravis von Souvannanorath, S., Nordine, T., Gendre, T., Lefaucheur, J., Plante-Bordeneuve, V., Authier, J.

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An early onset and aggressive form of amyloid angiopathy von Souvannanorath, S, Bouly, S, Roger, P, Renard, D

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Angiopathie amyloïde : une forme précoce et agressive von Souvannanorath, S., Bouly, S., Roger, P., Renard, D.

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P156 Muscle biopsy findings in a large cohort of patients affected by valosin containing protein disease: preliminary analysis of the international multicentric VCP study von Schiava, M., Nishino, I., Inoue, M., Nishimori, Y., Saito, Y., Polvikoski, T., Charlton, R., Parkhurst, Y., Henderson, M., Marini-Bettolo, C., Guglieri, M., Straub, V., Weihl, C., Stojkovic, T., Villar-Quiles, R., Romero, N., Evangelista, T., Pegoraro, E., De Bleecker, J., Monforte, M., Malfatti, E., Souvannanorath, S., Severa, G., Alonso-Jiménez, A., Baets, J., De Ridder, W., De Jonghe, P., Kierdaszuk, B., Claeys, K., Muelas, N., Oldfors, A., Rodolico, C., Quin, C., Dominguez, C., Lain, A Herández, Pál, E., Papadimas, G., Kushlaf, H., Alfano, L., Alonso-Pérez, J., Luo, S., Badrising, U., Bevilacqua, J., Nedkova-Hristova, V., Cetin, H., Gelpi, E., Klotz, S., Plana, M Olivé

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G.P.119 - Clinical and paraclinical features of phosphoglucomutase type 1 deficiency: Biochemical clues for the diagnosis von Souvannanorath, S., Laforêt, P., Bruneel, A., Morava, E., Sarret, C., Aumaitre, O., Dupre, T., Stojkovic, T.

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G.P.57 - Exploration of muscle metabolism during exercise and muscle imaging in late-onset form of multiple acyl-coA dehydrogenase deficiency (MADD) von Souvannanorath, S., Hatem, S., Becquemin, M., Zraik, N., Bittar, R., Rigal, O., Carlier, R., Carlier, P., Laforêt, P.

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T.P.32: Sensory neuropathy as a major clinical feature of LCHAD deficiency von Souvannanorath, S., Maisonobe, T., Valayannopoulos, V., Nadjar, Y., Mochel, F., Boutron-Corriat, A., Brivet, M., Laforêt, P.

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Facteurs pronostiques dans le syndrome opsoclonus-myoclonus de l’enfant : expérience du CHU de Montpellier von Souvannanorath, S., Meyer, P., Walther Louvier, U., Roubertie, A., Echenne, B., Rivier, F., Carneiro, M.

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Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis von Esteller, D., Schiava, M., Villar-Quiles, R.N., Dibowski, B., Venturelli, N., Laforet, P., Alonso-Pérez, J., Olive, M., Domínguez-González, C., Paradas, C., Vélez, B., Kostera-Pruszczyk, A., Kierdaszuk, B., Rodolico, C., Claeys, K., Pál, E., Malfatti, E., Souvannanorath, S., Alonso-Jiménez, A., Ridder, W. de, Smet, E. de, Papadimas, G., Papadopoulos, C., Xirou, S., Luo, S., Muelas, N., Vilchez, J.J., Ramos-Fransi, A., Monforte, M., Tasca, G., Udd, B., Palmio, J., Sri, S., Krause, S., Schöser, B., Fernández-Torrón, R., Munain, A.L. de, Pegoraro, E., Farrugia, M.E., Vorgerd, M., Manousakis, G., Chanson, J.B., Nadaj-Pakleza, A., Cetin, H., Badrising, U., Warman-Chardon, J., Bevilacqua, J., Earle, N., Campero, M., Díaz, J., Ikenaga, C., Lloyd, T.E., Nishino, I., Nishimori, Y., Saito, Y., Oya, Y., Takahashi, Y., Nishikawa, A., Sasaki, R., Marini-Bettolo, C., Guglieri, M., Straub, V., Stojkovic, T., Carlier, R.Y., Díaz-Manera, J.

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Muscle biopsy findings in a large cohort of patients affected by valosin containing protein disease: preliminary analysis of the international multicentric VCP study von Schiava, M, Nishino, I, Inoue, M, Nishimori, Y, Saito, Y, Polvikoski, T, Charlton, R, Parkhurst, Y, Henderson, M, Marini-Bettolo, C, Guglieri, M, Straub, V, Weihl, C, Stojkovic, T, Villar-Quiles, R, Romero, N, Evangelista, T, Pegoraro, E, De Bleecker, J, Monforte, M, Malfatti, E, Souvannanorath, S, Severa, G, Alonso-Jimenez, A, Baets, J, De Ridder, W, De Jonghe, P, Kierdaszuk, B, Claeys, K, Muelas, N, Oldfors, A, Rodolico, C, Quin, C, Dominguez, C, Lain, A. Herandez, Pal, E, Papadimas, G, Kushlaf, H, Alfano, L, Alonso-Perez, J, Luo, S, Badrising, U, Bevilacqua, J, Nedkova-Hristova, V, Cetin, H, Gelpi, E, Klotz, S, OlivePlana, M, Manera, Diaz

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An early onset and aggressive form of amyloid angiopathy von Souvannanorath, S, Bouly, S, Roger, P, Renard, D

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