Publications (1181)

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
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
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) :
Ambonville, C., Bouldouyre, M. A., Laforet, P., Richard, P., Benveniste, O., Vigouroux, C. :
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
Afanasiev, V., Demeret, S., Bolgert, F., Eymard, B., Laforet, P., Benveniste, O. :
Resistant myasthenia gravis and rituximab: A monocentric retrospective study of 28 patients Neuromuscul Disord, 2017 ; 27 (3) : 251-258