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) :
Publications (1181)
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
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
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
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
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
Treatment effect of idebenone on inspiratory function in patients with Duchenne muscular dystrophy Pediatr Pulmonol, 2017 ; 52 (4) : 508-515
Lilleker, J. B., Vencovsky, J., Wang, G., Wedderburn, L. R., Diederichsen, L. P., Schmidt, J., Jordan, P., Benveniste, O., Danieli, M. G., Danko, K., Phuong Thuy, N. T., Mercado, M. V., Andersson, H., Paepe, B., De Bleecker, J. L., Maurer, B., McCann, L. J., Pipitone, N., McHugh, N., Betteridge, Z., New, P., Cooper, R. G., Ollier, W. E., Lamb, J. A., Krogh, N. S., Lundberg, I. E., Chinoy, H., all EuroMyositis, contributors :
Response to: ‘Antisynthetase syndrome or what else? Different perspectives indicate the need for new classification criteria’ by Cavagna et al. Ann Rheum Dis, 2017 ; (SP) :
Response to: ‘Antisynthetase syndrome or what else? Different perspectives indicate the need for new classification criteria’ by Cavagna et al. Ann Rheum Dis, 2017 ; (SP) :
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) :
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) :
Biomarkers predict outcome in Charcot Marie Tooth Disease 1A J Neurol Neurosurg Psychiatry, 2017 ; (SP) :
Ambonville, C., Bouldouyre, M. A., Laforet, P., Richard, P., Benveniste, O., Vigouroux, C. :
Un diabète particulièrement compliqué Rev Med Interne, 2017 ; :
Un diabète particulièrement compliqué Rev Med Interne, 2017 ; :
Fernandez-Marmiesse, A., Carrascosa-Romero, M. C., Alfaro Ponce, B., Nascimento, A., Ortez, C., Romero, N., Palacios, L., Jimenez-Mallebrera, C., Jou, C., Gouveia, S., Couce, M. L. :
Homozygous truncating mutation in prenatally expressed skeletal isoform of TTN gene results in arthrogryposis multiplex congenita and myopathy without cardiac involvement Neuromuscul Disord, 2017 ; 27 (2) : 188-192
Homozygous truncating mutation in prenatally expressed skeletal isoform of TTN gene results in arthrogryposis multiplex congenita and myopathy without cardiac involvement Neuromuscul Disord, 2017 ; 27 (2) : 188-192
