Scalco, R. S., Snoeck, M., Quinlivan, R., Treves, S., Laforet, P., Jungbluth, H., Voermans, N. C. :
Exertional rhabdomyolysis: physiological response or manifestation of an underlying myopathy?
BMJ Open Sport Exerc Med, 2016 ; 2 (1) : e000151
Publications (1181)
O'Grady, G. L., Best, H. A., Sztal, T. E., Schartner, V., Sanjuan-Vazquez, M., Donkervoort, S., Abath Neto, O., Sutton, R. B., Ilkovski, B., Romero, N. B., Stojkovic, T., Dastgir, J., Waddell, L. B., Boland, A., Hu, Y., Williams, C., Ruparelia, A. A., Maisonobe, T., Peduto, A. J., Reddel, S. W., Lek, M., Tukiainen, T., Cummings, B. B., Joshi, H., Nectoux, J., Brammah, S., Deleuze, J. F., Ing, V. O., Ramm, G., Ardicli, D., Nowak, K. J., Talim, B., Topaloglu, H., Laing, N. G., North, K. N., MacArthur, D. G., Friant, S., Clarke, N. F., Bryson-Richardson, R. J., Bonnemann, C. G., Laporte, J., Cooper, S. T. :
Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization Am J Hum Genet, 2016 ; 99 (106) : 1086-1105
Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization Am J Hum Genet, 2016 ; 99 (106) : 1086-1105
Herlin, B., Laforet, P., Labrune, P., Fournier, E., Stojkovic, T. :
Peripheral neuropathy in glycogen storage disease type III: Fact or myth? Muscle Nerve, 2016 ; 53 (2) : 310-2
Peripheral neuropathy in glycogen storage disease type III: Fact or myth? Muscle Nerve, 2016 ; 53 (2) : 310-2
Hervier, B., Perez, M., Allenbach, Y., Devilliers, H., Cohen, F., Uzunhan, Y., Ouakrim, H., Dorgham, K., Meritet, J. F., Longchampt, E., Stenzel, W., Cremer, I., Benveniste, O., Vieillard, V. :
Involvement of NK Cells and NKp30 Pathway in Antisynthetase Syndrome J Immunol, 2016 ; 197 (5) : 1621-30
Involvement of NK Cells and NKp30 Pathway in Antisynthetase Syndrome J Immunol, 2016 ; 197 (5) : 1621-30
Servian-Morilla, E., Takeuchi, H., Lee, T. V., Clarimon, J., Mavillard, F., Area-Gomez, E., Rivas, E., Nieto-Gonzalez, J. L., Rivero, M. C., Cabrera-Serrano, M., Gomez-Sanchez, L., Martinez-Lopez, J. A., Estrada, B., Marquez, C., Morgado, Y., Suarez-Calvet, X., Pita, G., Bigot, A., Gallardo, E., Fernandez-Chacon, R., Hirano, M., Haltiwanger, R. S., Jafar-Nejad, H., Paradas, C. :
A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss EMBO Mol Med, 2016 ; 8 (11) : 1289-1309
A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss EMBO Mol Med, 2016 ; 8 (11) : 1289-1309
Akman, H. O., Aykit, Y., Amuk, O. C., Malfatti, E., Romero, N. B., Maioli, M. A., Piras, R., DiMauro, S., Marrosu, G. :
Late-onset polyglucosan body myopathy in five patients with a homozygous mutation in GYG1 Neuromuscul Disord, 2016 ; 26 (1) : 16-20
Late-onset polyglucosan body myopathy in five patients with a homozygous mutation in GYG1 Neuromuscul Disord, 2016 ; 26 (1) : 16-20
Hogrel, J. Y., van den Bogaart, F., Ledoux, I., Ollivier, G., Petit, F., Koujah, N., Behin, A., Stojkovic, T., Eymard, B., Voermans, N., Laforet, P. :
Diagnostic power of the non-ischaemic forearm exercise test in detecting glycogenosis type V Eur J Neurol, 2015 ; 22 (6) : 933-940
Diagnostic power of the non-ischaemic forearm exercise test in detecting glycogenosis type V Eur J Neurol, 2015 ; 22 (6) : 933-940
Zhu, L., Malatras, A., Thorley, M., Aghoghogbe, I., Mer, A., Duguez, S., Butler-Browne, G., Voit, T., Duddy, W. :
CellWhere: graphical display of interaction networks organized on subcellular localizations Nucleic Acids Res, 2015 ; 43 (W1) : W571-575
CellWhere: graphical display of interaction networks organized on subcellular localizations Nucleic Acids Res, 2015 ; 43 (W1) : W571-575
Schoser, B., Laforet, P., Kruijshaar, M. E., Toscano, A., van Doorn, P. A., van der Ploeg, A. T. :
208th ENMC International Workshop: Formation of a European Network to develop a European data sharing model and treatment guidelines for Pompe disease Naarden, The Netherlands, 26-28 September 2014 Neuromuscul Disord, 2015 ; 25 (8) : 674-8
208th ENMC International Workshop: Formation of a European Network to develop a European data sharing model and treatment guidelines for Pompe disease Naarden, The Netherlands, 26-28 September 2014 Neuromuscul Disord, 2015 ; 25 (8) : 674-8
Wahbi, K. :
[Cardiac involvement in dystrophinopathies] Arch Pediatr, 2015 ; 22 (12 Suppl 1) : 12S37-41
[Cardiac involvement in dystrophinopathies] Arch Pediatr, 2015 ; 22 (12 Suppl 1) : 12S37-41
