Publications (1184)

Finkel, R. S., Mercuri, E., Darras, B. T., Connolly, A. M., Kuntz, N. L., Kirschner, J., Chiriboga, C. A., Saito, K., Servais, L., Tizzano, E., Topaloglu, H., Tulinius, M., Montes, J., Glanzman, A. M., Bishop, K., Zhong, Z. J., Gheuens, S., Bennett, C. F., Schneider, E., Farwell, W., De Vivo, D. C., Endear Study Group :
Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy N Engl J Med, 2017 ; 377 (18) : 1723-1732
Jacquier, A., Delorme, C., Belotti, E., Juntas-Morales, R., Sole, G., Dubourg, O., Giroux, M., Maurage, C. A., Castellani, V., Rebelo, A., Abrams, A., Zuchner, S., Stojkovic, T., Schaeffer, L., Latour, P. :
Cryptic amyloidogenic elements in mutant NEFH causing Charcot-Marie-Tooth 2 trigger aggresome formation and neuronal death Acta Neuropathol Commun, 2017 ; 5 (1) : 55
Saunier, M., Bonnemann, C. G., Durbeej, M., Allamand, V., C. M. D. Animal Model Consortium :
212th ENMC International Workshop:: Animal models of congenital muscular dystrophies, Naarden, The Netherlands, 29-31 May 2015 Neuromuscul Disord, 2016 ; 26 (3) : 252-9
Attarian, S., Vallat, J. M., Magy, L., Funalot, B., Gonnaud, P. M., Lacour, A., Pereon, Y., Dubourg, O., Pouget, J., Micallef, J., Franques, J., Lefebvre, M. N., Ghorab, K., Al-Moussawi, M., Tiffreau, V., Preudhomme, M., Magot, A., Leclair-Visonneau, L., Stojkovic, T., Bossi, L., Lehert, P., Gilbert, W., Bertrand, V., Mandel, J., Milet, A., Hajj, R., Boudiaf, L., Scart-Gres, C., Nabirotchkin, S., Guedj, M., Chumakov, I., Cohen, D. :
Erratum to: An exploratory randomised double-blind and placebo-controlled phase 2 study of a combination of baclofen, naltrexone and sorbitol (PXT3003) in patients with Charcot-Marie-Tooth disease type 1A Orphanet J Rare Dis, 2016 ; 11 (1) : 92
Laforet, P. :
What have we learned about glycogenosis in recent years? Rev Neurol (Paris), 2016 ; (SP) :
Galant, D., Gaborit, B., Desgrouas, C., Abdesselam, I., Bernard, M., Levy, N., Merono, F., Coirault, C., Roll, P., Lagarde, A., Bonello-Palot, N., Bourgeois, P., Dutour, A., Badens, C. :
A Heterozygous ZMPSTE24 Mutation Associated with Severe Metabolic Syndrome, Ectopic Fat Accumulation, and Dilated Cardiomyopathy Cells, 2016 ; 5 (2) : 21
Malfatti, E., Barnerias, C., Hedberg-Oldfors, C., Gitiaux, C., Benezit, A., Oldfors, A., Carlier, R. Y., Quijano-Roy, S., Romero, N. B. :
A novel neuromuscular form of glycogen storage disease type IV with arthrogryposis, spinal stiffness and rare polyglucosan bodies in muscle Neuromuscul Disord, 2016 ; 26 (10) : 681-687
Possidonio, A. C., Soares, C. P., Fontenelle, M., Morris, E. R., Mouly, V., Costa, M. L., Mermelstein, C. :
Knockdown of Lmo7 inhibits chick myogenesis FEBS Lett, 2016 ; 590 (3) : 317-29
Benveniste, O., Stenzel, W., Allenbach, Y. :
Advances in serological diagnostics of inflammatory myopathies Curr Opin Neurol, 2016 ; 29 (5) : 662-73
Marey, I., Ben Yaou, R., Deburgrave, N., Vasson, A., Nectoux, J., Leturcq, F., Eymard, B., Laforet, P., Behin, A., Stojkovic, T., Mayer, M., Tiffreau, V., Desguerre, I., Boyer, F. C., Nadaj-Pakleza, A., Ferrer, X., Wahbi, K., Becane, H. M., Claustres, M., Chelly, J., Cossee, M. :
Non Random Distribution of DMD Deletion Breakpoints and Implication of Double Strand Breaks Repair and Replication Error Repair Mechanisms J Neuromuscul Dis, 2016 ; 3 (2) : 227-245