Identification of novel pathogenic copy number variations in Charcot-Marie-Tooth disease von Mortreux, J, Bacquet, J, Boyer, A, Alazard, E, Bellance, R, Giguet-Valard, A G, Cerino, M, Krahn, M, Audic, F, Chabrol, B, Laugel, V, Desvignes, J P, Béroud, C, Nguyen, K, Verschueren, A, Lévy, N, Attarian, S, Delague, V, Missirian, C, Bonello-Palot, N

Volltext

Current clinical management of CIDP with immunoglobulins in France: An expert opinion von Cintas, P., Bouhour, F., Cauquil, C., Masingue, M., Tard, C., Sacconi, S., Delmont, E., Choumert, A., Chanson, J.-B., Michaud, M., Solé, G., Cassereau, J., Noury, J.-B., Nicolas, G., Bellance, R., Péréon, Y., Camdessanché, J.-P., Magy, L., Attarian, S.

Volltext

Different HLA class II (DRB1 and DQB1) alleles determine either susceptibility or resistance to NMO and multiple sclerosis among the French Afro-Caribbean population von Deschamps, R, Paturel, L, Jeannin, S, Chausson, N, Olindo, S, Béra, O, Bellance, R, Smadja, D, Césaire, D, Cabre, P

Volltext

X-linked myotubular myopathy: A prospective international natural history study von Annoussamy, Mélanie, Lilien, Charlotte, Gidaro, Teresa, Gargaun, Elena, Chê, Virginie, Schara, Ulrike, Gangfuß, Andrea, DʼAmico, Adele, Dowling, James J, Darras, Basil T, Daron, Aurore, Hernandez, Arturo, de Lattre, Capucine, Arnal, Jean-Michel, Mayer, Michèle, Cuisset, Jean-Marie, Vuillerot, Carole, Fontaine, Stéphanie, Bellance, Rémi, Biancalana, Valérie, Buj-Bello, Ana, Hogrel, Jean-Yves, Landy, Hal, Servais, Laurent

Volltext

MS and neuromyelitis optica in Martinique (French West Indies) von Cabre, P, Heinzlef, O, Merle, H, Buisson, G G, Bera, O, Bellance, R, Vernant, J C, Smadja, D

Volltext

P.9.7 Skeletal muscle biopsy reappraisal in nebulin-related nemaline myopathy von Malfatti, E, Lehtokari, V.L, Schaeffer, U, Bohm, J, Estournet, B, Quijano-Roy, S, Monges, S, Lubieniecki, F, Bellance, R, Taratuto, A.L, Eymard, B, Fardeau, M, Wallgren-Pettersson, C, Laporte, J, Romero, N.B

Volltext

14P X-linked myotubular myopathy: 3-year follow-up of a prospective international natural history von Seferian, A., Annoussamy, M., Fer, F., Lilien, C., Gidaro, T., Schara-Schmidt, U., Braun, F., D'Amico, A., Daron, A., González, A. Hernández, de Lattre, C., Villerot, C., Behin, A., Arnal, J., Mayer, M., Bellance, R., Davion, J., Hogrel, J., Servais, L.

Volltext

Guidance for the care of neuromuscular patients during the COVID-19 pandemic outbreak from the French Rare Health Care for Neuromuscular Diseases Network von Solé, G., Salort-Campana, E., Pereon, Y., Stojkovic, T., Wahbi, K., Cintas, P., Adams, D., Laforet, P., Tiffreau, V., Desguerre, I., Pisella, L.I., Molon, A., Attarian, S.

Volltext

Late onset multiple acyl-CoA dehydrogenase deficiency (MADD) myopathy misdiagnosed as polymyositis von Barp, A., Bellance, R., Rigal, O., Acquaviva-Bourdain, C., Laforêt, P.

Volltext

P.362 - Late onset multiple acyl-CoA dehydrogenase deficiency (MADD) myopathy misdiagnosed as polymyositis von Barp, A., Bellance, R., Rigal, O., Acquaviva-Bourdain, C., Laforêt, P.

Volltext

Sensory ataxic neuromyelopathy in acquired copper deficiency von Bellance, R, Edimo Nana, M, Kone, M, Deschamps, R, Parry, A, Signate, A, Panelatti, G, Smadja, D

Volltext

Huntington’s disease‐like phenotype due to trinucleotide repeat expansions in the TBP and JPH3 genes von Stevanin, Giovanni, Fujigasaki, Hiroto, Lebre, Anne‐Sophie, Camuzat, Agnès, Jeannequin, Cécile, Dodé, Catherine, Takahashi, Junko, Sân, Chankranira, Bellance, Robert, Brice, Alexis, Durr, Alexandra

Volltext

New myotubular myopathy classification von Lilien, C., Annoussamy, M., Gidaro, T., Gargaun, E., Chê, V., Schara, U., D'Amico, A., Daron, A., Cuisset, J., Mayer, M., Hernandez, A., Vuillerot, C., Fontaine, S., deLattre, C., Bellance, R., Biancalana, V., Buj-Bello, A., Hogrel, J., Landy, H., Servais, L.

Volltext

P.247 - New myotubular myopathy classification von Lilien, C., Annoussamy, M., Gidaro, T., Gargaun, E., Chê, V., Schara, U., D'Amico, A., Daron, A., Cuisset, J., Mayer, M., Hernandez, A., Vuillerot, C., Fontaine, S., deLattre, C., Bellance, R., Biancalana, V., Buj-Bello, A., Hogrel, J., Landy, H., Servais, L.

Volltext

CONGENITAL MYOPATHIES (CNM): P.140Clinical changes over time in a European and North-american cohort of patients with X-linked myotubular myopathy von Annoussamy, M., Lilien, C., Gidaro, T., Chê, V., Schara, U., D'Amico, A., Dowling, J., Darras, B., Daron, A., Mayer, M., Hernandez, A., Vuillerot, C., Fontaine, S., deLattre, C., Bellance, R., Biancalana, V., Buj-Bello, A., Hogrel, JR, Landy, H., Servais, L., NatHis-MTM Study group

Volltext

CONGENITAL MYOPATHIES (CNM) von Annoussamy, M., Lilien, C., Gidaro, T., Chê, V., Schara, U., D'Amico, A., Dowling, J., Darras, B., Daron, A., Mayer, M., Hernandez, A., Vuillerot, C., Fontaine, S., deLattre, C., Bellance, R., Biancalana, V., Buj-Bello, A., Hogrel, JR, Landy, H., Servais, L., NatHis-MTM Study group

Volltext

La dysphonie et les anticorps anti-MI2 sont indépendamment associés à la dysphagie au cours des myopathies inflammatoires en Martinique von Robert, R., Abel, A., Louis-Sidney, F., Felix, A., Cougnaud, R., Parsemain, A., Moinet, F., Coco-Viloin, I., Dramé, M., Amazan, E., Bellance, R., Deligny, C., Suzon, B.

Volltext

Longitudinal data of patients with myotubular myopathy enrolled in a European prospective and longitudinal natural history study von Annoussamy, M., Lilien, C., Gidaro, T., Gargaun, E., Chê, V., Schara, U., D'Amico, A., Daron, A., Cuisset, J., Mayer, M., Hernandez, A., Vuillerot, C., Fontaine, S., de Lattre, C., Bellance, R., Biancalana, V., Buj-Bello, A., Hogrel, J., Landy, H., Servais, L.

Volltext

P.250 - Longitudinal data of patients with myotubular myopathy enrolled in a European prospective and longitudinal natural history study von Annoussamy, M., Lilien, C., Gidaro, T., Gargaun, E., Chê, V., Schara, U., D'Amico, A., Daron, A., Cuisset, J., Mayer, M., Hernandez, A., Vuillerot, C., Fontaine, S., de Lattre, C., Bellance, R., Biancalana, V., Buj-Bello, A., Hogrel, J., Landy, H., Servais, L.

Volltext

The DM-scope registry: a rare disease innovative framework bridging the gap between research and medical care von de Antonio, M, Dogan, C, Eymard, B, Puymirat, J, Mathieu, J, Gagnon, C, Attarian, S, Aube-Nathier, Ac, Audic, F, Bach, N, Barnerias, C, Bedat-Millet, Al, Behin, A, Bellance, R, Ben Yaou, R, Bombard, V, Bouhour, F, Boutte, C, Boyer, F, Cances, C, Chabrol, B, Chanson, Jb, Chapon, F, Chasseriau, R, Cintas, P, Cobo, Am, Colombert, V, Cruz, Mc, Cuisset, Jm, Deschamps, R, Desguerre, I, Durigneux, J, Duval, F, Espil, C, Fafin, C, Feasson, L, Fradin, M, Furby, A, Goldenberg, A, Grotto, S, Ghorab, K, Guyant-Marechal, L, Heron, D, Isapof, A, Jacquin-Piques, A, Journel, H, Laforet, P, Lagrue, E, Laroche-Raynaud, C, Laugel, V, Lebeau, F, Magot, A, Manel, V, Mayer, M, Mercier, S, Menard, D, Michaud, M, Minot, Mc, Morales, Rj, Nadaj-Pakleza, A, Noury, Jb, Pasquier, L, Pellieux, S, Pereon, Y, Perrier, J, Peudenier, S, Preudhomme, M, Pouget, J, Quijano-Roy, S, Ragot-Mandry, S, Richelme, C, Rivier, F, Sabouraud, P, Sacconi, S, Salort-Campana, E, Sarret, C, Schaeffer, S, Sole, G, Stojkovic, T, Taithe, F, Testard, H, Tiffereau, V, Urtizberea, A, Vanhulle, C, Vial, C, Walther-Louvier, U, Zagnoli, F, Hamroun, D, Bassez, G

Volltext