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
Publications (1184)
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) :
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
Bradburn, S., McPhee, J., Bagley, L., Carroll, M., Slevin, M., Al-Shanti, N., Barnouin, Y., Hogrel, J. Y., Paasuke, M., Gapeyeva, H., Maier, A., Sipila, S., Narici, M., Robinson, A., Mann, D., Payton, A., Pendleton, N., Butler-Browne, G., Murgatroyd, C. :
Dysregulation of C-X-C motif ligand 10 during aging and association with cognitive performance Neurobiol Aging, 2017 ; 63 : 54-64
Dysregulation of C-X-C motif ligand 10 during aging and association with cognitive performance Neurobiol Aging, 2017 ; 63 : 54-64
Farre Garros, R., Paul, R., Connolly, M., Lewis, A., Garfield, B. E., Natanek, S. A., Bloch, S., Mouly, V., Griffiths, M. J., Polkey, M. I., Kemp, P. R. :
miR-542 Promotes Mitochondrial Dysfunction and SMAD Activity and is Raised in ICU Acquired Weakness Am J Respir Crit Care Med, 2017 ; (SP) :
miR-542 Promotes Mitochondrial Dysfunction and SMAD Activity and is Raised in ICU Acquired Weakness Am J Respir Crit Care Med, 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
