Publications (1184)

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
Sayah, S., Rotge, J. Y., Francisque, H., Gargiulo, M., Czernecki, V., Justo, D., Lahlou-Laforet, K., Hahn, V., Pandolfo, M., Pelissolo, A., Fossati, P., Durr, A. :
Personality and Neuropsychological Profiles in Friedreich Ataxia Cerebellum, 2017 ; (SP) :
Gauci, M. L., Laly, P., Sarah, L. L., Behin, A., Gottlieb, J., Madelaine-Chambrin, I., Baroudjian, B., Da-Meda, L., Mourah, S., Battistella, M., Basset Seguin, N., Bagot, M., Pages, C., Vercellino, L., Maisonobe, T., Lebbe, C. :
Focal necrotizing myopathy with ‘dropped-head syndrome’ induced by cobimetinib in metastatic melanoma Melanoma Res, 2017 ; (SP) :
Bruneel, A., Habarou, F., Stojkovic, T., Plouviez, G., Bougas, L., Guillemet, F., Brient, N., Henry, D., Dupre, T., Vuillaumier-Barrot, S., Seta, N. :
Two-dimensional electrophoresis highlights haptoglobin beta chain as an additional biomarker of congenital disorders of glycosylation Clin Chim Acta, 2017 ; 470 : 70-74
Godfrey, C., Desviat, L. R., Smedsrod, B., Pietri-Rouxel, F., Denti, M. A., Disterer, P., Lorain, S., Nogales-Gadea, G., Sardone, V., Anwar, R., El Andaloussi, S., Lehto, T., Khoo, B., Brolin, C., van Roon-Mom, W. M., Goyenvalle, A., Aartsma-Rus, A., Arechavala-Gomeza, V. :
Delivery is key: lessons learnt from developing splice-switching antisense therapies EMBO Mol Med, 2017 ; 9 (5) : 545-557
Heller, F., Dabaj, I., Mah, J. K., Bergounioux, J., Essid, A., Bonnemann, C. G., Rutkowski, A., Bonne, G., Quijano-Roy, S., Wahbi, K. :
Cardiac manifestations of congenital LMNA-related muscular dystrophy in children: three case reports and recommendations for care Cardiol Young, 2017 ; 27 (6) : 1076-1082