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) :
Publications (1181)
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
Functional Characterization and Rescue of a Deep Intronic Mutation in OCRL Gene Responsible for Lowe Syndrome Hum Mutat, 2017 ; 38 (2) : 152-159
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
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
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) :
