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
Publications (1181)
Hogrel, J. Y., Wary, C., Moraux, A., Azzabou, N., Decostre, V., Ollivier, G., Canal, A., Lilien, C., Ledoux, I., Annoussamy, M., Reguiba, N., Gidaro, T., Le Moing, A. G., Cardas, R., Voit, T., Carlier, P. G., Servais, L. :
Longitudinal functional and NMR assessment of upper limbs in Duchenne muscular dystrophy Neurology, 2016 ; 86 (11) : 1022-30
Longitudinal functional and NMR assessment of upper limbs in Duchenne muscular dystrophy Neurology, 2016 ; 86 (11) : 1022-30
Leger, J. M., Guimaraes-Costa, R., Muntean, C. :
Immunotherapy in Peripheral Neuropathies Neurotherapeutics, 2016 ; 13 (1) : 96-107
Immunotherapy in Peripheral Neuropathies Neurotherapeutics, 2016 ; 13 (1) : 96-107
Price, M. A., Barghout, V., Benveniste, O., Christopher-Stine, L., Corbett, A., de Visser, M., Hilton-Jones, D., Kissel, J. T., Lloyd, T. E., Lundberg, I. E., Mastaglia, F., Mozaffar, T., Needham, M., Schmidt, J., Sivakumar, K., DeMuro, C., Tseng, B. S. :
Mortality and Causes of Death in Patients with Sporadic Inclusion Body Myositis: Survey Study Based on the Clinical Experience of Specialists in Australia, Europe and the USA J Neuromuscul Dis, 2016 ; 3 (1) : 67-75
Mortality and Causes of Death in Patients with Sporadic Inclusion Body Myositis: Survey Study Based on the Clinical Experience of Specialists in Australia, Europe and the USA J Neuromuscul Dis, 2016 ; 3 (1) : 67-75
Finsterer, J., Wahbi, K. :
Cardiac disease in brain-heart disorders Acta Cardiol, 2016 ; 71 (4) : 389-94
Cardiac disease in brain-heart disorders Acta Cardiol, 2016 ; 71 (4) : 389-94
van der Ploeg, A., Carlier, P. G., Carlier, R. Y., Kissel, J. T., Schoser, B., Wenninger, S., Pestronk, A., Barohn, R. J., Dimachkie, M. M., Goker-Alpan, O., Mozaffar, T., Pena, L. D., Simmons, Z., Straub, V., Guglieri, M., Young, P., Boentert, M., Baudin, P. Y., Wens, S., Shafi, R., Bjartmar, C., Thurberg, B. L. :
Prospective exploratory muscle biopsy, imaging, and functional assessment in patients with late-onset Pompe disease treated with alglucosidase alfa: The EMBASSY Study Mol Genet Metab, 2016 ; (SP) :
Prospective exploratory muscle biopsy, imaging, and functional assessment in patients with late-onset Pompe disease treated with alglucosidase alfa: The EMBASSY Study Mol Genet Metab, 2016 ; (SP) :
Polesskaya, A., Pinna, G., Sassi, Y., Vandamme, M., Bigot, A., Mouly, V., Morozova, N., Harel-Bellan, A., Degerny, C. :
Post-transcriptional modulation of interleukin 8 by CNOT6L regulates skeletal muscle differentiation Biochim Biophys Acta, 2016 ; 1863 (2) : 263-70
Post-transcriptional modulation of interleukin 8 by CNOT6L regulates skeletal muscle differentiation Biochim Biophys Acta, 2016 ; 1863 (2) : 263-70
Dragin, N., Bismuth, J., Cizeron-Clairac, G., Biferi, M. G., Berthault, C., Serraf, A., Nottin, R., Klatzmann, D., Cumano, A., Barkats, M., Le Panse, R., Berrih-Aknin, S. :
Estrogen-mediated downregulation of AIRE influences sexual dimorphism in autoimmune diseases J Clin Invest, 2016 ; 126 (4) : 1525-37
Estrogen-mediated downregulation of AIRE influences sexual dimorphism in autoimmune diseases J Clin Invest, 2016 ; 126 (4) : 1525-37
Le Moing, A. G., Seferian, A. M., Moraux, A., Annoussamy, M., Dorveaux, E., Gasnier, E., Hogrel, J. Y., Voit, T., Vissiere, D., Servais, L. :
A Movement Monitor Based on Magneto-Inertial Sensors for Non-Ambulant Patients with Duchenne Muscular Dystrophy: A Pilot Study in Controlled Environment PLoS ONE, 2016 ; 11 (6) : e0156696
A Movement Monitor Based on Magneto-Inertial Sensors for Non-Ambulant Patients with Duchenne Muscular Dystrophy: A Pilot Study in Controlled Environment PLoS ONE, 2016 ; 11 (6) : e0156696
Armbruster, N., Lattanzi, A., Jeavons, M., Van Wittenberghe, L., Gjata, B., Marais, T., Martin, S., Vignaud, A., Voit, T., Mavilio, F., Barkats, M., Buj-Bello, A. :
Efficacy and biodistribution analysis of intracerebroventricular administration of an optimized scAAV9-SMN1 vector in a mouse model of spinal muscular atrophy Mol Ther Methods Clin Dev, 2016 ; 3 (SP) : 16060
Efficacy and biodistribution analysis of intracerebroventricular administration of an optimized scAAV9-SMN1 vector in a mouse model of spinal muscular atrophy Mol Ther Methods Clin Dev, 2016 ; 3 (SP) : 16060
