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
Publications (1181)
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
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
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
De Antonio, M., Dogan, C., Hamroun, D., Mati, M., Zerrouki, S., Eymard, B., Katsahian, S., Bassez, G., French Myotonic Dystrophy Clinical, Network :
Unravelling the myotonic dystrophy type 1 clinical spectrum: A systematic registry-based study with implications for disease classification Rev Neurol (Paris), 2016 ; (sp) :
Unravelling the myotonic dystrophy type 1 clinical spectrum: A systematic registry-based study with implications for disease classification Rev Neurol (Paris), 2016 ; (sp) :
