Servian-Morilla, E., Takeuchi, H., Lee, T. V., Clarimon, J., Mavillard, F., Area-Gomez, E., Rivas, E., Nieto-Gonzalez, J. L., Rivero, M. C., Cabrera-Serrano, M., Gomez-Sanchez, L., Martinez-Lopez, J. A., Estrada, B., Marquez, C., Morgado, Y., Suarez-Calvet, X., Pita, G., Bigot, A., Gallardo, E., Fernandez-Chacon, R., Hirano, M., Haltiwanger, R. S., Jafar-Nejad, H., Paradas, C. :
A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss
EMBO Mol Med, 2016 ; 8 (11) : 1289-1309
Publications (1184)
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
EGR2 mutation enhances phenotype spectrum of Dejerine-Sottas syndrome J Neurol, 2016 ; 263 (7) : 1456-8
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
Rudolf, A., Schirwis, E., Giordani, L., Parisi, A., Lepper, C., Taketo, M. M., Le Grand, F. :
beta-Catenin Activation in Muscle Progenitor Cells Regulates Tissue Repair Cell Rep, 2016 ; 15 (6) : 1277-90
beta-Catenin Activation in Muscle Progenitor Cells Regulates Tissue Repair Cell Rep, 2016 ; 15 (6) : 1277-90
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
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
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
Tanguy,Y, Biferi,M G, Besse,A, Astord,S, Cohen-Tannoudji,M, Marais,T, Barkats,M :
Systemic AArh10 provides higher transgene expression than AAV9, in the brain and the spinal cord of neonatal mice Frontiers in Molecular Neuroscience, 2015 ; 8 (article 36) :
Systemic AArh10 provides higher transgene expression than AAV9, in the brain and the spinal cord of neonatal mice Frontiers in Molecular Neuroscience, 2015 ; 8 (article 36) :
Chamova, T., Guergueltcheva, V., Gospodinova, M., Krause, S., Cirak, S., Kaprelyan, A., Angelova, L., Mihaylova, V., Bichev, S., Chandler, D., Naydenov, E., Grudkova, M., Djukmedzhiev, P., Voit, T., Pogoryelova, O., Lochmuller, H., Goebel, H. H., Bahlo, M., Kalaydjieva, L., Tournev, I. :
GNE myopathy in Roma patients homozygous for the p.I618T founder mutation Neuromuscul Disord, 2015 ; 25 (9) : 713-8
GNE myopathy in Roma patients homozygous for the p.I618T founder mutation Neuromuscul Disord, 2015 ; 25 (9) : 713-8
