Guarani, V., Jardel, C., Chretien, D., Lombes, A., Benit, P., Labasse, C., Lacene, E., Bourillon, A., Imbard, A., Benoist, J. F., Dorboz, I., Gilleron, M., Goetzman, E. S., Gaignard, P., Slama, A., Elmaleh-Berges, M., Romero, N. B., Rustin, P., Ogier de Baulny, H., Paulo, J. A., Harper, J. W., Schiff, M. :
QIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial encephalopathy with liver disease
Elife, 2016 ; 5 : e17163
Publications (1181)
Thorley, M., Duguez, S., Mazza, E. M., Valsoni, S., Bigot, A., Mamchaoui, K., Harmon, B., Voit, T., Mouly, V., Duddy, W. :
Skeletal muscle characteristics are preserved in hTERT/cdk4 human myogenic cell lines Skelet Muscle, 2016 ; 6 (1) : 43
Skeletal muscle characteristics are preserved in hTERT/cdk4 human myogenic cell lines Skelet Muscle, 2016 ; 6 (1) : 43
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 ; (SP) :
Association between osteocalcin and cognitive performance in healthy older adults Age Ageing, 2016 ; (SP) :
Fraysse, B., Guicheney, P., Bitoun, M. :
Calcium homeostasis alterations in a mouse model of the Dynamin 2-related centronuclear myopathy Biol Open, 2016 ; 5 (11) : 1691-1696
Calcium homeostasis alterations in a mouse model of the Dynamin 2-related centronuclear myopathy Biol Open, 2016 ; 5 (11) : 1691-1696
Carmeille, R., Bouvet, F., Tan, S., Croissant, C., Gounou, C., Mamchaoui, K., Mouly, V., Brisson, A. R., Bouter, A. :
Membrane repair of human skeletal muscle cells requires Annexin-A5 Biochim Biophys Acta, 2016 ; 1863 (9) : 2267-79
Membrane repair of human skeletal muscle cells requires Annexin-A5 Biochim Biophys Acta, 2016 ; 1863 (9) : 2267-79
Del Mar Amador, M., Vandenberghe, N., Berhoune, N., Camdessanche, J. P., Gronier, S., Delmont, E., Desnuelle, C., Cintas, P., Pittion, S., Louis, S., Demeret, S., Lenglet, T., Meininger, V., Salachas, F., Pradat, P. F., Bruneteau, G. :
Unusual association of amyotrophic lateral sclerosis and myasthenia gravis: A dysregulation of the adaptive immune system? Neuromuscul Disord, 2016 ; 26 (6) : 342-6
Unusual association of amyotrophic lateral sclerosis and myasthenia gravis: A dysregulation of the adaptive immune system? Neuromuscul Disord, 2016 ; 26 (6) : 342-6
Sanges, S., Yelnik, C. M., Sitbon, O., Benveniste, O., Mariampillai, K., Phillips-Houlbracq, M., Pison, C., Deligny, C., Inamo, J., Cottin, V., Mouthon, L., Launay, D., Lambert, M., Hatron, P. Y., Rottat, L., Humbert, M., Hachulla, E. :
Pulmonary arterial hypertension in idiopathic inflammatory myopathies: Data from the French pulmonary hypertension registry and review of the literature Medicine (Baltimore), 2016 ; 95 (39) : e4911
Pulmonary arterial hypertension in idiopathic inflammatory myopathies: Data from the French pulmonary hypertension registry and review of the literature Medicine (Baltimore), 2016 ; 95 (39) : e4911
Avila-Smirnow, D., Gueneau, L., Batonnet-Pichon, S., Delort, F., Becane, H. M., Claeys, K., Beuvin, M., Goudeau, B., Jais, J. P., Nelson, I., Richard, P., Ben Yaou, R., Romero, N. B., Wahbi, K., Mathis, S., Voit, T., Furst, D., van der Ven, P., Gil, R., Vicart, P., Fardeau, M., Bonne, G., Behin, A. :
Cardiac arrhythmia and late-onset muscle weakness caused by a myofibrillar myopathy with unusual histopathological features due to a novel missense mutation in FLNC Rev Neurol (Paris), 2016 ; 172 (10) : 594-606
Cardiac arrhythmia and late-onset muscle weakness caused by a myofibrillar myopathy with unusual histopathological features due to a novel missense mutation in FLNC Rev Neurol (Paris), 2016 ; 172 (10) : 594-606
Scalco, R. S., Snoeck, M., Quinlivan, R., Treves, S., Laforet, P., Jungbluth, H., Voermans, N. C. :
Exertional rhabdomyolysis: physiological response or manifestation of an underlying myopathy? BMJ Open Sport Exerc Med, 2016 ; 2 (1) : e000151
Exertional rhabdomyolysis: physiological response or manifestation of an underlying myopathy? BMJ Open Sport Exerc Med, 2016 ; 2 (1) : e000151
Herlin, B., Laforet, P., Labrune, P., Fournier, E., Stojkovic, T. :
Peripheral neuropathy in glycogen storage disease type III: Fact or myth? Muscle Nerve, 2016 ; 53 (2) : 310-2
Peripheral neuropathy in glycogen storage disease type III: Fact or myth? Muscle Nerve, 2016 ; 53 (2) : 310-2
