Rendu, J., Montjean, R., Coutton, C., Suri, M., Chicanne, G., Petiot, A., Brocard, J., Grunwald, D., Pietri Rouxel, F., Payrastre, B., Lunardi, J., Dorseuil, O., Marty, I., Faure, J. :
Functional Characterization and Rescue of a Deep Intronic Mutation in OCRL Gene Responsible for Lowe Syndrome
Hum Mutat, 2017 ; 38 (2) : 152-159
Publications (1184)
CA Araujo, E, Azzabou, N., Vignaud, A., Guillot, G., Carlier, P. G. :
Quantitative ultrashort TE imaging of the short-T2 components in skeletal muscle using an extended echo-subtraction method Magn Reson Med, 2017 ; 78 (3) : 997-1008
Quantitative ultrashort TE imaging of the short-T2 components in skeletal muscle using an extended echo-subtraction method Magn Reson Med, 2017 ; 78 (3) : 997-1008
Allenbach, Y., Mammen, A. L., Stenzel, W., Benveniste, O. :
224th ENMC International Workshop:: Clinico-sero-pathological classification of immune-mediated necrotizing myopathies Zandvoort, The Netherlands, 14-16 October 2016 Neuromuscul Disord, 2017 ; (SP) :
224th ENMC International Workshop:: Clinico-sero-pathological classification of immune-mediated necrotizing myopathies Zandvoort, The Netherlands, 14-16 October 2016 Neuromuscul Disord, 2017 ; (SP) :
Elkhatib, N., Bresteau, E., Baschieri, F., Rioja, A. L., van Niel, G., Vassilopoulos, S., Montagnac, G. :
Tubular clathrin/AP-2 lattices pinch collagen fibers to support 3D cell migration Science, 2017 ; 356 (6343) : 1-10
Tubular clathrin/AP-2 lattices pinch collagen fibers to support 3D cell migration Science, 2017 ; 356 (6343) : 1-10
Marsolier, J., Laforet, P., Pegoraro, E., Vissing, J., Richard, I., Sarcoglycanopathies Working, Group :
1st International Workshop on Clinical trial readiness for sarcoglycanopathies 15-16 November 2016, Evry, France Neuromuscul Disord, 2017 ; 27 (7) : 683-692
1st International Workshop on Clinical trial readiness for sarcoglycanopathies 15-16 November 2016, Evry, France Neuromuscul Disord, 2017 ; 27 (7) : 683-692
Semplicini, C., Ollagnon-Roman, E., Leonard-Louis, S., Piguet-Lacroix, G., Silvestre, M., Latour, P., Stojkovic, T. :
High intra-familiar clinical variability in MORC2 mutated CMT2 patients Brain, 2017 ; 40 (4) : e21
High intra-familiar clinical variability in MORC2 mutated CMT2 patients Brain, 2017 ; 40 (4) : e21
Allenbach, Y., Benveniste, O., Goebel, H. H., Stenzel, W. :
Review: Integrated classification of inflammatory myopathies Neuropathol Appl Neurobiol, 2017 ; 43 (1) : 62-81
Review: Integrated classification of inflammatory myopathies Neuropathol Appl Neurobiol, 2017 ; 43 (1) : 62-81
Allamand, V. :
Muscle Membrane Serendipity conference : Past, Present, and Future Conference1 – 20-23 juillet 2017, Iowa City Med Sci (Paris), 2017 ; 33 Hors Serie : 67
Muscle Membrane Serendipity conference : Past, Present, and Future Conference1 – 20-23 juillet 2017, Iowa City Med Sci (Paris), 2017 ; 33 Hors Serie : 67
Tosserams, A., Papadopoulos, C., Jardel, C., Lemiere, I., Romero, N. B., De Lonlay, P., Wahbi, K., Voermans, N., Hogrel, J. Y., Laforet, P. :
Two new cases of mitochondrial myopathy with exercise intolerance, hyperlactatemia and cardiomyopathy, caused by recessive SLC25A4 mutations Mitochondrion, 2017 ; (SP) :
Two new cases of mitochondrial myopathy with exercise intolerance, hyperlactatemia and cardiomyopathy, caused by recessive SLC25A4 mutations Mitochondrion, 2017 ; (SP) :
Chong-Nguyen, C., Wahbi, K., Algalarrondo, V., Becane, H. M., Radvanyi-Hoffman, H., Arnaud, P., Furling, D., Lazarus, A., Bassez, G., Behin, A., Fayssoil, A., Laforet, P., Stojkovic, T., Eymard, B., Duboc, D. :
Association Between Mutation Size and Cardiac Involvement in Myotonic Dystrophy Type 1: An Analysis of the DM1-Heart Registry Circ Cardiovasc Genet, 2017 ; 10 (3) : e001526
Association Between Mutation Size and Cardiac Involvement in Myotonic Dystrophy Type 1: An Analysis of the DM1-Heart Registry Circ Cardiovasc Genet, 2017 ; 10 (3) : e001526
