Lornage, X., Malfatti, E., Cheraud, C., Schneider, R., Biancalana, V., Cuisset, J. M., Garibaldi, M., Eymard, B., Fardeau, M., Boland, A., Deleuze, J. F., Thompson, J., Carlier, R. Y., Bohm, J., Romero, N. B., Laporte, J. :
Recessive MYPN mutations cause cap myopathy with occasional nemaline rods
Ann Neurol, 2017 ; 81 (3) : 467-473
Publications (1181)
Mercier, S., Lornage, X., Malfatti, E., Marcorelles, P., Letournel, F., Boscher, C., Caillaux, G., Magot, A., Bohm, J., Boland, A., Deleuze, J. F., Romero, N., Pereon, Y., Laporte, J. :
Expanding the spectrum of congenital myopathy linked to recessive mutations in SCN4A Neurology, 2017 ; 88 (4) : 414-416
Expanding the spectrum of congenital myopathy linked to recessive mutations in SCN4A Neurology, 2017 ; 88 (4) : 414-416
Beyer, S., Pontis, J., Schirwis, E., Battisti, V., Rudolf, A., Le Grand, F., Ait-Si-Ali, S. :
Canonical Wnt signalling regulates nuclear export of Setdb1 during skeletal muscle terminal differentiation. Erratum: Canonical Wnt signalling regulates nuclear export of Setdb1 during skeletal muscle terminal differentiation. [Cell Discov. 2016] Cell Discov, 2016 ; 2 : 16037
Canonical Wnt signalling regulates nuclear export of Setdb1 during skeletal muscle terminal differentiation. Erratum: Canonical Wnt signalling regulates nuclear export of Setdb1 during skeletal muscle terminal differentiation. [Cell Discov. 2016] Cell Discov, 2016 ; 2 : 16037
Musset, L., Allenbach, Y., Benveniste, O., Boyer, O., Bossuyt, X., Bentow, C., Phillips, J., Mammen, A., Van Damme, P., Westhovens, R., Ghirardello, A., Doria, A., Choi, M. E., Fritzler, M. J., Schmeling, H., Muro, Y., La Torre, I. G., Ortiz-Villalvazo, M. A., Bizzaro, N., Infantino, M., Imbastaro, T., Peng,, Wang, G., Vencovsky, J., Klein, M., Krystufkova, O., Franceschini, F., Fredi, M., Hue, S., Belmondo, T., Danko, K., Mahler, M. :
Anti-HMGCR antibodies as a biomarker for immune-mediated necrotizing myopathies: A history of statins and experience from a large international multi-center study Autoimmun Rev, 2016 ; (SP) :
Anti-HMGCR antibodies as a biomarker for immune-mediated necrotizing myopathies: A history of statins and experience from a large international multi-center study Autoimmun Rev, 2016 ; (SP) :
Behin, A., Acquaviva-Bourdain, C., Souvannanorath, S., Streichenberger, N., Attarian, S., Bassez, G., Brivet, M., Fouilhoux, A., Labarre-Villa, A., Laquerriere, A., Perard, L., Kaminsky, P., Pouget, J., Rigal, O., Vanhulle, C., Eymard, B., Vianey-Saban, C., Laforet, P. :
Multiple acyl-CoA dehydrogenase deficiency (MADD) as a cause of late-onset treatable metabolic disease Rev Neurol (Paris), 2016 ; :
Multiple acyl-CoA dehydrogenase deficiency (MADD) as a cause of late-onset treatable metabolic disease Rev Neurol (Paris), 2016 ; :
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
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
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
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
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
