Publications (1181)

Nunes, J. C., Rinnenthal, J. L., Allenbach, Y., Lenze, D., Hummel, M., Johrens, K., Walz, R., Goebel, H. H., Heppner, F. L., Stenzel, W. :
Proximal weakness in a patient with MALT lymphoma: a case report and discussion of possible pathogenesis Neuropathol Appl Neurobiol, 2015 ; 41 (5) : 686-689
Reijnierse, E. M., Trappenburg, M. C., Leter, M. J., Sipila, S., Stenroth, L., Narici, M. V., Hogrel, J. Y., Butler-Browne, G., McPhee, J. S., Paasuke, M., Gapeyeva, H., Meskers, C. G., Maier, A. B. :
Serum albumin and muscle measures in a cohort of healthy young and old participants Age (Dordr), 2015 ; 37 (5) : 88
Mochel, F., Hainque, E., Gras, D., Adanyeguh, I. M., Caillet, S., Heron, B., Roubertie, A., Kaphan, E., Valabregue, R., Rinaldi, D., Vuillaumier, S., Schiffmann, R., Ottolenghi, C., Hogrel, J. Y., Servais, L., Roze, E. :
Triheptanoin dramatically reduces paroxysmal motor disorder in patients with GLUT1 deficiency J Neurol Neurosurg Psychiatry, 2015 ; :
Bijlsma, A. Y., Meskers, C. G., van den Eshof, N., Westendorp, R. G., Sipila, S., Stenroth, L., Sillanpaa, E., McPhee, J. S., Jones, D. A., Narici, M. V., Gapeyeva, H., Paasuke, M., Voit, T., Barnouin, Y., Hogrel, J. Y., Butler-Browne, G., Maier, A. B. :
Diagnostic criteria for sarcopenia and physical performance Age (Dordr), 2014 ; 36(1):275-85 (1) : 275-85
Ferreboeuf, M., Mariot, V., Bessieres, B., Vasiljevic, A., Attie-Bitach, T., Collardeau, S., Morere, J., Roche, S., Magdinier, F., Robin-Ducellier, J., Rameau, P., Whalen, S., Desnuelle, C., Sacconi, S., Mouly, V., Butler-Browne, G., Dumonceaux, J. :
DUX4 and DUX4 downstream target genes are expressed in fetal FSHD muscles Hum Mol Genet, 2014 ; 23 (1) : 171-81
Mazzone, E., De Sanctis, R., Fanelli, L., Bianco, F., Main, M., van den Hauwe, M., Ash, M., de Vries, R., Fagoaga Mata, J., Schaefer, K., D'Amico, A., Colia, G., Palermo, C., Scoto, M., Mayhew, A., Eagle, M., Servais, L., Vigo, M., Febrer, A., Korinthenberg, R., Jeukens, M., de Viesser, M., Totoescu, A., Voit, T., Bushby, K., Muntoni, F., Goemans, N., Bertini, E., Pane, M., Mercuri, E. :
Hammersmith Functional Motor Scale and Motor Function Measure-20 in non ambulant SMA patients Neuromuscul Disord, 2014 ; 24 (4) : 347-52
Bachinski, L. L., Baggerly, K. A., Neubauer, V. L., Nixon, T. J., Raheem, O., Sirito, M., Unruh, A. K., Zhang, J., Nagarajan, L., Timchenko, L. T., Bassez, G., Eymard, B., Gamez, J., Ashizawa, T., Mendell, J. R., Udd, B., Krahe, R. :
Most expression and splicing changes in myotonic dystrophy type 1 and type 2 skeletal muscle are shared with other muscular dystrophies Neuromuscul Disord, 2014 ; 24 (3) : 227-40
Castiglioni, C., Cassandrini, D., Fattori, F., Bellacchio, E., D'Amico, A., Alvarez, K., Gejman, R., Diaz, J., Santorelli, F. M., Romero, N. B., Bertini, E., Bevilacqua, J. A. :
Muscle MRI and histopathology in ACTA1-related congenital nemaline myopathy Muscle Nerve, 2014 ; 50 (6) : 1011-6
Gauthier, M., Marteyn, A., Denis, J. A., Cailleret, M., Giraud-Triboult, K., Aubert, S., Lecuyer, C., Marie, J., Furling, D., Vernet, R., Yanguas, C., Baldeschi, C., Pietu, G., Peschanski, M., Martinat, C. :
A defective Krab-domain zinc-finger transcription factor contributes to altered myogenesis in myotonic dystrophy type 1 Hum Mol Genet, 2014 ; 22 (25) : 5188-98
PĂ©riĂ©, S, Trollet, C, Mouly, V, Vanneaux, V, Mamchaoui, K, Bouazza, B, Marolleau, J P, LaforĂȘt, P, Chapon, F, Eymard, B, Butler-Browne, G, Larghero, J, Lacau St Guily, J. :
Autologous myoblast transplantation for oculopharyngeal muscular dystrophy: a Phase I/IIa clinical study. Mol Ther, 2014 ; 22 (1) : 219-25