Gargaun, E., Seferian, A. M., Cardas, R., Le Moing, A. G., Delanoe, C., Nectoux, J., Nelson, I., Bonne, G., Bihoreau, M. T., Deleuze, J. F., Boland, A., Masson, C., Servais, L., Gidaro, T. :
EGR2 mutation enhances phenotype spectrum of Dejerine-Sottas syndrome
J Neurol, 2016 ; 263 (7) : 1456-8
Publications (1181)
Bradburn, S., McPhee, J. S., Bagley, L., Sipila, S., Stenroth, L., Narici, M. V., Paasuke, M., Gapeyeva, H., Osborne, G., Sassano, L., Meskers, C. G., Maier, A. B., Hogrel, J. Y., Barnouin, Y., Butler-Browne, G., Murgatroyd, C. :
Association between osteocalcin and cognitive performance in healthy older adults Age Ageing, 2016 ; 45 (6) : 844-849
Association between osteocalcin and cognitive performance in healthy older adults Age Ageing, 2016 ; 45 (6) : 844-849
Wojtal, D., Kemaladewi, D. U., Malam, Z., Abdullah, S., Wong, T. W., Hyatt, E., Baghestani, Z., Pereira, S., Stavropoulos, J., Mouly, V., Mamchaoui, K., Muntoni, F., Voit, T., Gonorazky, H. D., Dowling, J. J., Wilson, M. D., Mendoza-Londono, R., Ivakine, E. A., Cohn, R. D. :
Spell Checking Nature: Versatility of CRISPR/Cas9 for Developing Treatments for Inherited Disorders Am J Hum Genet, 2016 ; 98 (1) : 90-101
Spell Checking Nature: Versatility of CRISPR/Cas9 for Developing Treatments for Inherited Disorders Am J Hum Genet, 2016 ; 98 (1) : 90-101
Davignon, L., Chauveau, C., Julien, C., Dill, C., Duband-Goulet, I., Cabet, E., Buendia, B., Lilienbaum, A., Rendu, J., Minot, M. C., Guichet, A., Allamand, V., Vadrot, N., Faure, J., Odent, S., Lazaro, L., Leroy, J. P., Marcorelles, P., Dubourg, O., Ferreiro, A. :
The transcription coactivator ASC-1 is a regulator of skeletal myogenesis, and its deficiency causes a novel form of congenital muscle disease Hum Mol Genet, 2016 ; 25 (8) : 1559-73
The transcription coactivator ASC-1 is a regulator of skeletal myogenesis, and its deficiency causes a novel form of congenital muscle disease Hum Mol Genet, 2016 ; 25 (8) : 1559-73
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
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) :
What have we learned about glycogenosis in recent years? Rev Neurol (Paris), 2016 ; (SP) :
Chatzifrangkeskou, M., Le Dour, C., Wu, W., Morrow, J. P., Joseph, L. C., Beuvin, M., Sera, F., Homma, S., Vignier, N., Mougenot, N., Bonne, G., Lipson, K. E., Worman, H. J., Muchir, A. :
ERK1/2 directly acts on CTGF/CCN2 expression to mediate myocardial fibrosis in cardiomyopathy caused by mutations in the lamin A/C gene Hum Mol Genet, 2016 ; 25 (11) : 2220-33
ERK1/2 directly acts on CTGF/CCN2 expression to mediate myocardial fibrosis in cardiomyopathy caused by mutations in the lamin A/C gene Hum Mol Genet, 2016 ; 25 (11) : 2220-33
Marty, B., Baudin, P. Y., Reyngoudt, H., Azzabou, N., Araujo, E. C., Carlier, P. G., de Sousa, P. L. :
Simultaneous muscle water T and fat fraction mapping using transverse relaxometry with stimulated echo compensation NMR Biomed, 2016 ; 29 (4) : 431-43
Simultaneous muscle water T and fat fraction mapping using transverse relaxometry with stimulated echo compensation NMR Biomed, 2016 ; 29 (4) : 431-43
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
