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
Malfatti, E., Romero, N. B. :
Diseases of the skeletal muscle Handb Clin Neurol, 2017 ; 145 : 429-451
Diseases of the skeletal muscle Handb Clin Neurol, 2017 ; 145 : 429-451
Biancalana, V., Scheidecker, S., Miguet, M., Laquerriere, A., Romero, N. B., Stojkovic, T., Abath Neto, O., Mercier, S., Voermans, N., Tanner, L., Rogers, C., Ollagnon-Roman, E., Roper, H., Boutte, C., Ben-Shachar, S., Lornage, X., Vasli, N., Schaefer, E., Laforet, P., Pouget, J., Moerman, A., Pasquier, L., Marcorelle, P., Magot, A., Kusters, B., Streichenberger, N., Tranchant, C., Dondaine, N., Schneider, R., Gasnier, C., Calmels, N., Kremer, V., Nguyen, K., Perrier, J., Kamsteeg, E. J., Carlier, P., Carlier, R. Y., Thompson, J., Boland, A., Deleuze, J. F., Fardeau, M., Zanoteli, E., Eymard, B., Laporte, J. :
Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues Acta Neuropathol, 2017 ; 134 (6) : 889-904
Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues Acta Neuropathol, 2017 ; 134 (6) : 889-904
Hogrel, J. Y., Janssen, J. B., Ledoux, I., Ollivier, G., Behin, A., Stojkovic, T., Eymard, B., Voermans, N. C., Laforet, P. :
The diagnostic value of hyperammonaemia induced by the non-ischaemic forearm exercise test J Clin Pathol, 2017 ; (SP) :
The diagnostic value of hyperammonaemia induced by the non-ischaemic forearm exercise test J Clin Pathol, 2017 ; (SP) :
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
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
