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
Allamand, V. :
GĂ©nĂ©tique : IntĂ©rĂŞt du NGS dans un cas atypique de LGMD liĂ©e Ă l’alphadystroglycane Med Sci (Paris), 2017 ; 33 Hors Serie : 57
GĂ©nĂ©tique : IntĂ©rĂŞt du NGS dans un cas atypique de LGMD liĂ©e Ă l’alphadystroglycane Med Sci (Paris), 2017 ; 33 Hors Serie : 57
Lopomo, A., Berrih-Aknin, S. :
Autoimmune Thyroiditis and Myasthenia Gravis Front Endocrinol (Lausanne), 2017 ; 8 : 169
Autoimmune Thyroiditis and Myasthenia Gravis Front Endocrinol (Lausanne), 2017 ; 8 : 169
Schoser, B., Eymard, B., Datt, J., Mantegazza, R. :
Lambert-Eaton myasthenic syndrome (LEMS): a rare autoimmune presynaptic disorder often associated with cancer + ERRATUM J Neurol, 2017 ; (SP) :
Lambert-Eaton myasthenic syndrome (LEMS): a rare autoimmune presynaptic disorder often associated with cancer + ERRATUM J Neurol, 2017 ; (SP) :
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
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) :
