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
Publications (1184)
Laforet, P. :
What have we learned about glycogenosis in recent years? Rev Neurol (Paris), 2016 ; (SP) :
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
A Heterozygous ZMPSTE24 Mutation Associated with Severe Metabolic Syndrome, Ectopic Fat Accumulation, and Dilated Cardiomyopathy Cells, 2016 ; 5 (2) : 21
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
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
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
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
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
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
Lauritzen, I., Pardossi-Piquard, R., Bourgeois, A., Pagnotta, S., Biferi, M. G., Barkats, M., Lacor, P., Klein, W., Bauer, C., Checler, F. :
Intraneuronal aggregation of the beta-CTF fragment of APP (C99) induces Abeta-independent lysosomal-autophagic pathology Acta Neuropathol, 2016 ; 132 (2) : 257-76
Intraneuronal aggregation of the beta-CTF fragment of APP (C99) induces Abeta-independent lysosomal-autophagic pathology Acta Neuropathol, 2016 ; 132 (2) : 257-76
Masat, E., Laforet, P., De Antonio, M., Corre, G., Perniconi, B., Taouagh, N., Mariampillai, K., Amelin, D., Mauhin, W., Hogrel, J. Y., Caillaud, C., Ronzitti, G., Puzzo, F., Kuranda, K., Colella, P., Mallone, R., Benveniste, O., Mingozzi, F. :
Long-term exposure to Myozyme results in a decrease of anti-drug antibodies in late-onset Pompe disease patients Sci Rep, 2016 ; 6 : 36182
Long-term exposure to Myozyme results in a decrease of anti-drug antibodies in late-onset Pompe disease patients Sci Rep, 2016 ; 6 : 36182
Bohm, M., Wachtel, M., Marques, J. G., Streiff, N., Laubscher, D., Nanni, P., Mamchaoui, K., Santoro, R., Schafer, B. W. :
Helicase CHD4 is an epigenetic coregulator of PAX3-FOXO1 in alveolar rhabdomyosarcoma J Clin Invest, 2016 ; 126 (11) : 4237-4249
Helicase CHD4 is an epigenetic coregulator of PAX3-FOXO1 in alveolar rhabdomyosarcoma J Clin Invest, 2016 ; 126 (11) : 4237-4249
