Arouche-Delaperche, L., Allenbach, Y., Amelin, D., Preusse, C., Mouly, V., Mauhin, W., Dzangue Tchoupou, G., Drouot, L., Boyer, O., Stenzel, W., Butler-Browne, G., Benveniste, O. :
Pathogenic role of anti-SRP and anti-HMGCR antibodies in necrotizing myopathies: Myofiber atrophy and impairment of muscle regeneration in necrotizing autoimmune myopathies
Ann Neurol, 2017 ; 81 (4) : 538-548
Publications (1181)
Schartner, V., Romero, N. B., Donkervoort, S., Treves, S., Munot, P., Pierson, T. M., Dabaj, I., Malfatti, E., Zaharieva, I. T., Zorzato, F., Abath Neto, O., Brochier, G., Lornage, X., Eymard, B., Taratuto, A. L., Bohm, J., Gonorazky, H., Ramos-Platt, L., Feng, L., Phadke, R., Bharucha-Goebel, D. X., Sumner, C. J., Bui, M. T., Lacene, E., Beuvin, M., Labasse, C., Dondaine, N., Schneider, R., Thompson, J., Boland, A., Deleuze, J. F., Matthews, E., Pakleza, A. N., Sewry, C. A., Biancalana, V., Quijano-Roy, S., Muntoni, F., Fardeau, M., Bonnemann, C. G., Laporte, J. :
Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy Acta Neuropathol, 2017 ; 133 (4) : 517-533
Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy Acta Neuropathol, 2017 ; 133 (4) : 517-533
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
Vilmont, V., Cadot, B., Ouanounou, G., Gomes, E. R. :
A system for studying mechanisms of neuromuscular junction development and maintenance Development, 2016 ; 143 (13) : 2464-77
A system for studying mechanisms of neuromuscular junction development and maintenance Development, 2016 ; 143 (13) : 2464-77
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
