Publications (1181)

Preisler, N., Laforet, P., Madsen, K. L., Hansen, R. S., Lukacs, Z., Orngreen, M. C., Lacour, A., Vissing, J. :
Fat and carbohydrate metabolism during exercise in late-onset Pompe disease Mol Genet Metab, 2012 ; 107 (3) : 462-468

Willer, T., Lee, H., Lommel, M., Yoshida-Moriguchi, T., de Bernabe, D. B., Venzke, D., Cirak, S., Schachter, H., Vajsar, J., Voit, T., Muntoni, F., Loder, A. S., Dobyns, W. B., Winder, T. L., Strahl, S., Mathews, K. D., Nelson, S. F., Moore, S. A., Campbell, K. P. :
ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome Nat Genet, 2012 ; 44 (5) : 575-580

Béhin, A, Léger, J M :
Quand recourir à la Commission permanente des permis de conduire ? Neurologie Pratique, 2012 ; 80 : 9-10

Fraysse, B, Weinberger, F, Bardswell, S, Cuello, F, Vignier, N, Geertz, B, Starbatty, J, Krämer, E, Coirault, C, Eschenhagen, T, Kentish, J C, Avkiran, M, Carrier, L :
Increased myofilament Ca2+ sensitivity and diastolic dysfunction as early consequences of Mybpc3 mutation in heterozygous knock-in mice J Mol Cell Cardiol, 2012 ; 52 : 1299-1307

Ledoux, I., Laforet, P., Wary, C., Carlier, P. G., Hogrel, J. Y. :
Explorations de l’intolérance musculaire à l’effort de l’enfant Arch Pediatr, 2012 ; 19 (6 S1) : H107-H108

Schoindre, Y., Terrier, B., Kahn, J. E., Saadoun, D., Souberbielle, J. C., Benveniste, O., Amoura, Z., Piette, J. C., Cacoub, P., Costedoat-Chalumeau, N. :
Vitamine D et auto-immunité. Première partie : aspects fondamentaux. Rev Med Interne, 2012 ; 33 (2) : 80-6

Bohm, J., Biancalana, V., Dechene, E. T., Bitoun, M., Pierson, C. R., Schaefer, E., Karasoy, H., Dempsey, M. A., Klein, F., Dondaine, N., Kretz, C., Haumesser, N., Poirson, C., Toussaint, A., Greenleaf, R. S., Barger, M. A., Mahoney, L. J., Kang, P. B., Zanoteli, E., Vissing, J., Witting, N., Echaniz-Laguna, A., Wallgren-Pettersson, C., Dowling, J., Merlini, L., Oldfors, A., Bomme Ousager, L., Melki, J., Krause, A., Jern, C., Oliveira, A. S., Petit, F., Jacquette, A., Chaussenot, A., Mowat, D., Leheup, B., Cristofano, M., Poza Aldea, J. J., Michel, F., Furby, A., Llona, J. E., Van Coster, R., Bertini, E., Urtizberea, J. A., Drouin-Garraud, V., Beroud, C., Prudhon, B., Bedford, M., Mathews, K., Erby, L. A., Smith, S. A., Roggenbuck, J., Crowe, C. A., Brennan Spitale, A., Johal, S. C., Amato, A. A., Demmer, L. A., Jonas, J., Darras, B. T., Bird, T. D., Laurino, M., Welt, S. I., Trotter, C., Guicheney, P., Das, S., Mandel, J. L., Beggs, A. H., Laporte, J. :
Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy Hum Mutat, 2012 ; 33 (6) : 949-59

Guerci, A., Lahoute, C., Hebrard, S., Collard, L., Graindorge, D., Favier, M., Cagnard, N., Batonnet-Pichon, S., Precigout, G., Garcia, L., Tuil, D., Daegelen, D., Sotiropoulos, A. :
Srf-dependent paracrine signals produced by myofibers control satellite cell-mediated skeletal muscle hypertrophy Cell Metab, 2012 ; 15 (1) : 25-37

Michot, C., Hubert, L., Romero, N. B., Gouda, A., Mamoune, A., Mathew, S., Kirk, E., Viollet, L., Rahman, S., Bekri, S., Peters, H., McGill, J., Glamuzina, E., Farrar, M., von der Hagen, M., Alexander, I. E., Kirmse, B., Barth, M., Laforet, P., Benlian, P., Munnich, A., Jeanpierre, M., Elpeleg, O., Pines, O., Delahodde, A., de Keyzer, Y., de Lonlay, P. :
Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgia J Inherit Metab Dis, 2012 ; 35 (6) : 1119-28

Vulin, A., Barthelemy, I., Goyenvalle, A., Thibaud, J. L., Beley, C., Griffith, G., Benchaouir, R., le Hir, M., Unterfinger, Y., Lorain, S., Dreyfus, P., Voit, T., Carlier, P. G., Blot, S., Garcia, L. :
Muscle Function Recovery in Golden Retriever Muscular Dystrophy After AAV1-U7 Exon Skipping Mol Ther, 2012 ; 20 (11) : 2120-33