Publications (1181)

Stemmerik, M. G., Madsen, K. L., Laforet, P., Buch, A. E., Vissing, J. :
Muscle glycogen synthesis and breakdown are both impaired in glycogenin-1 deficiency Neurology, 2017 ; (SP) :
Byrne, B. J., Geberhiwot, T., Barshop, B. A., Barohn, R., Hughes, D., Bratkovic, D., Desnuelle, C., Laforet, P., Mengel, E., Roberts, M., Haroldsen, P., Reilley, K., Jayaram, K., Yang, K., Walsh, L., P. O. M. Investigators :
A study on the safety and efficacy of reveglucosidase alfa in patients with late-onset Pompe disease Orphanet J Rare Dis, 2017 ; 12 (1) : 144
Meyer, A., Laverny, G., Allenbach, Y., Grelet, E., Ueberschlag, V., Echaniz-Laguna, A., Lannes, B., Alsaleh, G., Charles, A. L., Singh, F., Zoll, J., Lonsdorfer, E., Maurier, F., Boyer, O., Gottenberg, J. E., Nicot, A. S., Laporte, J., Benveniste, O., Metzger, D., Sibilia, J., Geny, B. :
IFN-beta-induced reactive oxygen species and mitochondrial damage contribute to muscle impairment and inflammation maintenance in dermatomyositis Acta Neuropathol, 2017 ; (SP) :
Arouche-Delaperche, L., Allenbach, Y., Amelin, D., Preusse, C., Mouly, V., Mauhin, W., Dzangue Tchoupou, G., Drouot, L., Boyer, O., Stenzel, W., Butler-Browne, G., Benveniste, O. :
Pathogenic role of anti-SRP and anti-HMGCR antibodies in necrotizing myopathies: Myofiber atrophy and impairment of muscle regeneration in necrotizing autoimmune myopathies Ann Neurol, 2017 ; 81 (4) : 538-548
Schartner, V., Romero, N. B., Donkervoort, S., Treves, S., Munot, P., Pierson, T. M., Dabaj, I., Malfatti, E., Zaharieva, I. T., Zorzato, F., Abath Neto, O., Brochier, G., Lornage, X., Eymard, B., Taratuto, A. L., Bohm, J., Gonorazky, H., Ramos-Platt, L., Feng, L., Phadke, R., Bharucha-Goebel, D. X., Sumner, C. J., Bui, M. T., Lacene, E., Beuvin, M., Labasse, C., Dondaine, N., Schneider, R., Thompson, J., Boland, A., Deleuze, J. F., Matthews, E., Pakleza, A. N., Sewry, C. A., Biancalana, V., Quijano-Roy, S., Muntoni, F., Fardeau, M., Bonnemann, C. G., Laporte, J. :
Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy Acta Neuropathol, 2017 ; 133 (4) : 517-533
Ben Yaou, R, Hubert, A., Nelson, I, Dahlqvist, J R, Gaist, D, Streichenberger, N, Beuvin, M, Krahn, M, Petiot,P, Parisot, F, Michel, F., Malfatti, E, Romero, N, Carlier, R Y, Eymard, B, Labrune, P, Duno, M., Krag, T, Cerino, M., Bartoli, M, Bonne, G, Vissing, J, Laforet, P., Petit, F :
Clinical heterogeneity and phenotype/genotype findings in 5 families with glycogenin 1 deficiency Neurology Genetics, 2017 ; (SP) :
Fledrich, R, Mannil, M, Leha, A, Ehbrecht, C, Solari, A, Pelayo-Negro, A L, Berciano, J, Schlotter-Weigel, B, Schnizer, T, Prukop, T, Garcia-Angarita, N, Czesnik, D, Haberlová, J, Mazanec, R, Paulus, W, Walter, M, Hogrel, J Y, Dubourg, O, Schenone, A, Baets, J, de Jonghe, P, Shy, M, Horvath, R, Pareyson, D, Seeman, P, Young, P, Sereda, M W :
Biomarkers predict outcome in Charcot Marie Tooth Disease 1A J Neurol Neurosurg Psychiatry, 2017 ; (SP) :
Sudres, M., Maurer, M., Robinet, M., Bismuth, J., Truffault, F., Girard, D., Dragin, N., Attia, M., Fadel, E., Santelmo, N., Sicsic, C., Brenner, T., Berrih-Aknin, S. :
Preconditioned mesenchymal stem cells treat myasthenia gravis in a humanized preclinical model JCI Insight, 2017 ; 2 (7) : e89665
Papadopoulos, C., Laforet, P., Nectoux, J., Stojkovic, T., Wahbi, K., Carlier, R. Y., Carlier, P. G., Leonard-Louis, S., Leturcq, F., Romero, N., Eymard, B., Behin, A. :
HyperCKemia and myalgia are a common presentation of Anoctamin-5 (ANO5)-related myopathy in French patients Muscle Nerve, 2017 ; 56 (6) : 1096-1100
Buyse, G. M., Voit, T., Schara, U., Straathof, C. S., D'Angelo, M. G., Bernert, G., Cuisset, J. M., Finkel, R. S., Goemans, N., Rummey, C., Leinonen, M., Mayer, O. H., Spagnolo, P., Meier, T., McDonald, C. M., Delos Study Group :
Treatment effect of idebenone on inspiratory function in patients with Duchenne muscular dystrophy Pediatr Pulmonol, 2017 ; 52 (4) : 508-515