Malfatti, E., Chaves, M., Bellance, R., Viou, M. T., Sarrazin, E., Fardeau, M., Romero, N. B. :
Cylindrical spirals associated with severe congenital muscle weakness and epileptic encephalopathy
Muscle Nerve, 2015 ; 52 (5) : 895-9
Publications (1181)
Baudin, P. Y., Marty, B., Robert, B., Shukelovitch, A., Carlier, R. Y., Azzabou, N., Carlier, P. G. :
Qualitative and quantitative evaluation of skeletal muscle fatty degenerative changes using whole-body Dixon nuclear magnetic resonance imaging for an important reduction of the acquisition time Neuromuscul Disord, 2015 ; 25 (10) : 758-63
Qualitative and quantitative evaluation of skeletal muscle fatty degenerative changes using whole-body Dixon nuclear magnetic resonance imaging for an important reduction of the acquisition time Neuromuscul Disord, 2015 ; 25 (10) : 758-63
Allenbach, Y, Leroux, G, Preusse, C, Suarez Calvet, X, Gallardo, E, Hervier, B, Rigolet, A, Hie, M, Limal, N, Hufnagl, P, Zerbe, N, Meyer, A, Maisonobe, T, Aouizerate, J, Uzunhan, Y, Goebel, H H, Benveniste, O, Stenzel, W :
Dermatomyositis with or without anti-MDA5 antibodies: common Interferon signature but distinct NOS2 expression Acta Neuropathol Commun, 2015 ; (SP) :
Dermatomyositis with or without anti-MDA5 antibodies: common Interferon signature but distinct NOS2 expression Acta Neuropathol Commun, 2015 ; (SP) :
Michon, C. C., Gargiulo, M., Hahn-Barma, V., Petit, F., Nadaj-Pakleza, A., Herson, A., Eymard, B., Labrune, P., Laforet, P. :
Cognitive profile of patients with glycogen storage disease type III: a clinical description of seven cases J Inherit Metab Dis, 2015 ; 38 (3) : 573-580
Cognitive profile of patients with glycogen storage disease type III: a clinical description of seven cases J Inherit Metab Dis, 2015 ; 38 (3) : 573-580
Clément, S., Gargiulo, M., Feingold, J., Durr, A. :
Lignes directrices et bonnes pratiques du test présymptomatique de la maladie de Huntington : passé, présent et futur en France Revue neurologique, 2015 ; 171 (6-7) : 572-580
Lignes directrices et bonnes pratiques du test présymptomatique de la maladie de Huntington : passé, présent et futur en France Revue neurologique, 2015 ; 171 (6-7) : 572-580
Negroni, E., Bigot, A., Butler-Browne, G., Trollet, C., Mouly, V. :
Cellular therapies for muscular dystrophies: frustrations and clinical successes Hum Gene Ther, 2015 ; :
Cellular therapies for muscular dystrophies: frustrations and clinical successes Hum Gene Ther, 2015 ; :
Henique, C., Mansouri, A., Vavrova, E., Lenoir, V., Ferry, A., Esnous, C., Ramond, E., Girard, J., Bouillaud, F., Prip-Buus, C., Cohen, I. :
Increasing mitochondrial muscle fatty acid oxidation induces skeletal muscle remodeling toward an oxidative phenotype FASEB J, 2015 ; 29 (6) : 2473-83
Increasing mitochondrial muscle fatty acid oxidation induces skeletal muscle remodeling toward an oxidative phenotype FASEB J, 2015 ; 29 (6) : 2473-83
Mariani, L. L., Lozeron, P., Theaudin, M., Mincheva, Z., Signate, A., Ducot, B., Algalarrondo, V., Denier, C., Adam, C., Nicolas, G., Samuel, D., Slama, M. S., Lacroix, C., Misrahi, M., Adams, D., Maisonobe, T, Léger, J M, Stojkovic, T, Viala, K, Lenglet, T, Antoine, J C, Camdessanche, J P, Vial, C, Petiot, P, Magy, L, Vallat, J M, Pouget, J, Attarian, S, Franques, J, Desnuelle, C, Delmont, E, Lacour, A, Hachulla, E, le Masson, G, Sole, G, Pereon, Y, Echaniz-Laguna, A, Tranchant, C, Labauge, P, Morales, R J, Corcia, P, Bellance, R, Mignard, C, Clavelou, P, Guiraud-Chaumeil, C, Guegen, A. :
Genotype-phenotype correlation and course of transthyretin familial amyloid polyneuropathies in France Ann Neurol, 2015 ; 78 (6) : 901-16
Genotype-phenotype correlation and course of transthyretin familial amyloid polyneuropathies in France Ann Neurol, 2015 ; 78 (6) : 901-16
Crudele, J. M., Finn, J. D., Siner, J. I., Martin, N. B., Niemeyer, G. P., Zhou, S., Mingozzi, F., Lothrop, C. D., Jr., Arruda, V. R. :
AAV liver expression of FIX-Padua prevents and eradicates FIX inhibitor without increasing thrombogenicity in hemophilia B dogs and mice Blood, 2015 ; 125 (10) : 1553-1561
AAV liver expression of FIX-Padua prevents and eradicates FIX inhibitor without increasing thrombogenicity in hemophilia B dogs and mice Blood, 2015 ; 125 (10) : 1553-1561
Rau, F, Lainé, J, Ramanoudjame, L, Ferry, A, Arandel, L, Delalande, O, Jollet, A, Dingli, F, Lee, K Y, Peccate, C, Lorain, S, Kabashi, E, Athansopoulos, T, Koo, T, Loew, D, Swanson, M, Le Rumeur, E, Dickson, G, Allamand, V, Marie, J, Furling, D :
Abnormal splicing switch of DMD’s penultimate exon compromises muscle fiber maintenance in Myotonic Dystrophy Nat Commun, 2015 ; 6 : 7205
Abnormal splicing switch of DMD’s penultimate exon compromises muscle fiber maintenance in Myotonic Dystrophy Nat Commun, 2015 ; 6 : 7205
