Preisler, N., Laforet, P., Echaniz-Laguna, A., Orngreen, M. C., Lonsdorfer-Wolf, E., Doutreleau, S., Geny, B., Stojkovic, T., Piraud, M., Petit, F. M., Vissing, J. :
Fat and carbohydrate metabolism during exercise in phosphoglucomutase type 1 deficiency
J Clin Endocrinol Metab, 2013 ; 98 (7) : E1235-40
Publications (1184)
Mingozzi, F., High, K. A. :
Immune responses to AAV vectors: overcoming barriers to successful gene therapy Blood, 2013 ; 122 (1) : 23-36
Immune responses to AAV vectors: overcoming barriers to successful gene therapy Blood, 2013 ; 122 (1) : 23-36
Barberi, L., Scicchitano, B. M., De Rossi, M., Bigot, A., Duguez, S., Wielgosik, A., Stewart, C., McPhee, J., Conte, M., Narici, M., Franceschi, C., Mouly, V., Butler-Browne, G., Musaro, A. :
Age-dependent alteration in muscle regeneration: the critical role of tissue niche Biogerontology, 2013 ; 14 (3) : 273-292
Age-dependent alteration in muscle regeneration: the critical role of tissue niche Biogerontology, 2013 ; 14 (3) : 273-292
Cirak, S., Foley, A. R., Herrmann, R., Willer, T., Yau, S., Stevens, E., Torelli, S., Brodd, L., Kamynina, A., Vondracek, P., Roper, H., Longman, C., Korinthenberg, R., Marrosu, G., Nurnberg, P., Michele, D. E., Plagnol, V., Hurles, M., Moore, S. A., Sewry, C. A., Campbell, K. P., Voit, T., Muntoni, F. :
ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies Brain, 2013 ; 136 (Pt 1) : 269-281
ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies Brain, 2013 ; 136 (Pt 1) : 269-281
Desdouits, M., Munier, S., Prevost, M. C., Jeannin, P., Butler-Browne, G., Ozden, S., Gessain, A., Van Der Werf, S., Naffakh, N., Ceccaldi, P. E. :
Productive Infection of Human Skeletal Muscle Cells by Pandemic and Seasonal Influenza A(H1N1) Viruses PLoS ONE, 2013 ; 8 (11) : e79628
Productive Infection of Human Skeletal Muscle Cells by Pandemic and Seasonal Influenza A(H1N1) Viruses PLoS ONE, 2013 ; 8 (11) : e79628
Foley, A. R., Quijano-Roy, S., Collins, J., Straub, V., McCallum, M., Deconinck, N., Mercuri, E., Pane, M., D'Amico, A., Bertini, E., North, K., Ryan, M. M., Richard, P., Allamand, V., Hicks, D., Lamande, S., Hu, Y., Gualandi, F., Auh, S., Muntoni, F., Bonnemann, C. G. :
Natural history of pulmonary function in collagen VI-related myopathies Brain, 2013 ; 136 (Pt 12) : 3625-33
Natural history of pulmonary function in collagen VI-related myopathies Brain, 2013 ; 136 (Pt 12) : 3625-33
Bijlsma, A. Y., Meskers, M. C., Molendijk, M., Westendorp, R. G., Sipila, S., Stenroth, L., Sillanpaa, E., McPhee, J. S., Jones, D. A., Narici, M., Gapeyeva, H., Paasuke, M., Seppet, E., Voit, T., Barnouin, Y., Hogrel, J. Y., Butler-Browne, G., Maier, A. B. :
Diagnostic measures for sarcopenia and bone mineral density Osteoporos Int, 2013 ; 24 (10) : 2681-91
Diagnostic measures for sarcopenia and bone mineral density Osteoporos Int, 2013 ; 24 (10) : 2681-91
Zhou, H., Rokach, O., Feng, L., Munteanu, I., Mamchaoui, K., Wilmshurst, J. M., Sewry, C., Manzur, A. Y., Pillay, K., Mouly, V., Duchen, M., Jungbluth, H., Treves, S., Muntoni, F. :
RYR1 Deficiency in Congenital Myopathies Disrupts Excitation-Contraction Coupling Hum Mutat, 2013 ; 34 (7) : 986-996
RYR1 Deficiency in Congenital Myopathies Disrupts Excitation-Contraction Coupling Hum Mutat, 2013 ; 34 (7) : 986-996
Malfatti, E., Laforet, P., Jardel, C., Stojkovic, T., Behin, A., Eymard, B., Lombes, A., Benmalek, A., Becane, H. M., Berber, N., Meune, C., Duboc, D., Wahbi, K. :
High risk of severe cardiac adverse events in patients with mitochondrial m.3243A>G mutation Neurology, 2013 ; 80 (1) : 100-105
High risk of severe cardiac adverse events in patients with mitochondrial m.3243A>G mutation Neurology, 2013 ; 80 (1) : 100-105
Pakula, A., Schneider, J., Janke, J., Zacharias, U., Schulz, H., Hubner, N., Mahler, A., Spuler, A., Spuler, S., Carlier, P. G., Boschmann, M. :
Altered expression of cyclin A 1 in muscle of patients with facioscapulohumeral muscle dystrophy (FSHD-1) PLoS ONE, 2013 ; 8 (9) : e73573
Altered expression of cyclin A 1 in muscle of patients with facioscapulohumeral muscle dystrophy (FSHD-1) PLoS ONE, 2013 ; 8 (9) : e73573
