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
Publications (1184)
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
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
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
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) :
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) :
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
Two-dimensional electrophoresis highlights haptoglobin beta chain as an additional biomarker of congenital disorders of glycosylation Clin Chim Acta, 2017 ; 470 : 70-74
