Ribera, A., Haurigot, V., Garcia, M., Marco, S., Motas, S., Villacampa, P., Maggioni, L., Leon, X., Molas, M., Sanchez, V., Munoz, S., Leborgne, C., Moll, X., Pumarola, M., Mingozzi, F., Ruberte, J., Anor, S., Bosch, F. :
Biochemical, Histological and Functional Correction of Mucopolysaccharidosis Type IIIB by Intra-cerebrospinal Fluid Gene Therapy
Hum Mol Genet, 2015 ; 24 (7) : 2078-2095
Publications (1181)
Aalbers, C. J., Bevaart, L., Loiler, S., de Cortie, K., Wright, J. F., Mingozzi, F., Tak, P. P., Vervoordeldonk, M. J. :
Preclinical Potency and Biodistribution Studies of an AAV 5 Vector Expressing Human Interferon-beta (ART-I02) for Local Treatment of Patients with Rheumatoid Arthritis PLoS ONE, 2015 ; 10 (6) : e0130612
Preclinical Potency and Biodistribution Studies of an AAV 5 Vector Expressing Human Interferon-beta (ART-I02) for Local Treatment of Patients with Rheumatoid Arthritis PLoS ONE, 2015 ; 10 (6) : e0130612
Allenbach, Y., Tourte, M., Stenzel, W., Goebel, H. H., Maisonobe, T., Frances, C., Barete, S., Benveniste, O. :
Expanding the spectrum of livedoid vasculopathy: peculiar neuromuscular manifestations Neuropathol Appl Neurobiol, 2015 ; 41 (6) : 849-52
Expanding the spectrum of livedoid vasculopathy: peculiar neuromuscular manifestations Neuropathol Appl Neurobiol, 2015 ; 41 (6) : 849-52
Wahbi, K. :
Aspects cardiologiques des dystrophinopathies. Arch Pediatr, 2015 ; 22 (12 Suppl 1) : 12S37-41
Aspects cardiologiques des dystrophinopathies. Arch Pediatr, 2015 ; 22 (12 Suppl 1) : 12S37-41
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
Rothwell, S., Cooper, R. G., Lundberg, I. E., Miller, F. W., Gregersen, P. K., Bowes, J., Vencovsky, J., Danko, K., Limaye, V., Selva-O'Callaghan, A., Hanna, M. G., Machado, P. M., Pachman, L. M., Reed, A. M., Rider, L. G., Cobb, J., Platt, H., Molberg, O., Benveniste, O., Mathiesen, P., Radstake, T., Doria, A., De Bleecker, J., De Paepe, B., Maurer, B., Ollier, W. E., Padyukov, L., O'Hanlon, T. P., Lee, A., Amos, C. I., Gieger, C., Meitinger, T., Winkelmann, J., Wedderburn, L. R., Chinoy, H., Lamb, J. A. :
Dense genotyping of immune-related loci in idiopathic inflammatory myopathies confirms HLA alleles as the strongest genetic risk factor and suggests different genetic background for major clinical subgroups Ann Rheum Dis, 2015 ; (SP) :
Dense genotyping of immune-related loci in idiopathic inflammatory myopathies confirms HLA alleles as the strongest genetic risk factor and suggests different genetic background for major clinical subgroups Ann Rheum Dis, 2015 ; (SP) :
Barthelemy, F., Navarro, C., Fayek, R., Da Silva, N., Roll, P., Sigaudy, S., Oshima, J., Bonne, G., Papadopoulou-Legbelou, K., Evangeliou, A. E., Spilioti, M., Lemerrer, M., Wevers, R. A., Morava, E., Robaglia-Schlupp, A., Levy, N., Bartoli, M., De Sandre-Giovannoli, A. :
Truncated prelamin A expression in HGPS-like patients: a transcriptional study Eur J Hum Genet, 2015 ; 23 (8) : 1051-1061
Truncated prelamin A expression in HGPS-like patients: a transcriptional study Eur J Hum Genet, 2015 ; 23 (8) : 1051-1061
