Allamand, V. :
Génétique : Intérêt du NGS dans un cas atypique de LGMD liée à l’alphadystroglycane
Med Sci (Paris), 2017 ; 33 Hors Serie : 57
Publications (1184)
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) :
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
Recessive MYPN mutations cause cap myopathy with occasional nemaline rods Ann Neurol, 2017 ; 81 (3) : 467-473
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
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) :
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
