Publications (1184)

Cea, L. A., Bevilacqua, J. A., Arriagada, C., Cardenas, A. M., Bigot, A., Mouly, V., Saez, J. C., Caviedes, P. :
The absence of dysferlin induces the expression of functional connexin-based hemichannels in human myotubes BMC Cell Biol, 2016 ; 17 Suppl 1 : 15
Ricotti, V., Evans, M. R., Sinclair, C. D., Butler, J. W., Ridout, D. A., Hogrel, J. Y., Emira, A., Morrow, J. M., Reilly, M. M., Hanna, M. G., Janiczek, R. L., Matthews, P. M., Yousry, T. A., Muntoni, F., Thornton, J. S. :
Upper Limb Evaluation in Duchenne Muscular Dystrophy: Fat-Water Quantification by MRI, Muscle Force and Function Define Endpoints for Clinical Trials PLoS ONE, 2016 ; 11 (9) : e0162542
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
Allenbach, Y., Leroux, G., Suarez-Calvet, X., Preusse, C., Gallardo, E., Hervier, B., Rigolet, A., Hie, M., Pehl, D., Limal, N., Hufnagl, P., Zerbe, N., Meyer, A., Aouizerate, J., Uzunhan, Y., Maisonobe, T., Goebel, H. H., Benveniste, O., Stenzel, W., French Myositis, Network :
Dermatomyositis With or Without Anti-Melanoma Differentiation-Associated Gene 5 Antibodies: Common Interferon Signature but Distinct NOS2 Expression Am J Pathol, 2016 ; 186 (3) : 691-700
Leger, J. M., Guimaraes-Costa, R., Muntean, C. :
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
Ducat, A., Doridot, L., Calicchio, R., Mehats, C., Vilotte, J. L., Castille, J., Barbaux, S., Couderc, B., Jacques, S., Letourneur, F., Buffat, C., Le Grand, F., Laissue, P., Miralles, F., Vaiman, D. :
Endothelial cell dysfunction and cardiac hypertrophy in the STOX1 model of preeclampsia Sci Rep, 2016 ; 6 : 19196
Gomez-Andres, D., Dabaj, I., Mompoint, D., Hankiewicz, K., Azzi, V., Ioos, C., Romero, N. B., Ben Yaou, R., Bergounioux, J., Bonne, G., Richard, P., Estournet, B., Yves-Carlier, R., Quijano-Roy, S. :
Pediatric laminopathies: Whole-body magnetic resonance imaging fingerprint and comparison with Sepn1 myopathy Muscle Nerve, 2016 ; 54 (2) : 192-202
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) :
Wojtal, D., Kemaladewi, D. U., Malam, Z., Abdullah, S., Wong, T. W., Hyatt, E., Baghestani, Z., Pereira, S., Stavropoulos, J., Mouly, V., Mamchaoui, K., Muntoni, F., Voit, T., Gonorazky, H. D., Dowling, J. J., Wilson, M. D., Mendoza-Londono, R., Ivakine, E. A., Cohn, R. D. :
Spell Checking Nature: Versatility of CRISPR/Cas9 for Developing Treatments for Inherited Disorders Am J Hum Genet, 2016 ; 98 (1) : 90-101