Palmio, J., Evila, A., Chapon, F., Tasca, G., Xiang, F., Bradvik, B., Eymard, B., Echaniz-Laguna, A., Laporte, J., Karppa, M., Mahjneh, I., Quinlivan, R., Laforet, P., Damian, M., Berardo, A., Taratuto, A. L., Bueri, J. A., Tommiska, J., Raivio, T., Tuerk, M., Golitz, P., Chevessier, F., Sewry, C., Norwood, F., Hedberg, C., Schroder, R., Edstrom, L., Oldfors, A., Hackman, P., Udd, B. :
Hereditary myopathy with early respiratory failure: occurrence in various populations
J Neurol Neurosurg Psychiatry, 2014 ; 85 (3) : 345-53
Publications (1181)
Wilding, B. R., McGrath, M. J., Bonne, G., Mitchell, C. A. :
FHL1 mutations that cause clinically distinct human myopathies form protein aggregates and impair myoblast differentiation J Cell Sci, 2014 ; 127 (Pt 10) : 2269-81
FHL1 mutations that cause clinically distinct human myopathies form protein aggregates and impair myoblast differentiation J Cell Sci, 2014 ; 127 (Pt 10) : 2269-81
Romero, N. B., Mezmezian, M., Fidzianska, A. :
Main steps of skeletal muscle development in the human: morphological analysis and ultrastructural characteristics of developing human muscle Handb Clin Neurol, 2013 ; 113 : 1299-310
Main steps of skeletal muscle development in the human: morphological analysis and ultrastructural characteristics of developing human muscle Handb Clin Neurol, 2013 ; 113 : 1299-310
Malfatti, E., Olive, M., Taratuto, A. L., Richard, P., Brochier, G., Bitoun, M., Gueneau, L., Laforet, P., Stojkovic, T., Maisonobe, T., Monges, S., Lubieniecki, F., Vasquez, G., Streichenberger, N., Lacene, E., Saccoliti, M., Prudhon, B., Alexianu, M., Figarella-Branger, D., Schessl, J., Bonnemann, C., Eymard, B., Fardeau, M., Bonne, G., Romero, N. B. :
Skeletal Muscle Biopsy Analysis in Reducing Body Myopathy and Other FHL1-Related Disorders J Neuropathol Exp Neurol, 2013 ; 72 (9) : 833-845
Skeletal Muscle Biopsy Analysis in Reducing Body Myopathy and Other FHL1-Related Disorders J Neuropathol Exp Neurol, 2013 ; 72 (9) : 833-845
Nilsson, J., Schoser, B., Laforet, P., Kalev, O., Lindberg, C., Romero, N. B., Lopez, M. D., Akman, H. O., Wahbi, K., Iglseder, S., Eggers, C., Engel, A. G., Dimauro, S., Oldfors, A. :
Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1 Ann Neurol, 2013 ; 74 (6) : 914-9
Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1 Ann Neurol, 2013 ; 74 (6) : 914-9
Friedrich, F. W., Dilanian, G., Khattar, P., Juhr, D., Gueneau, L., Charron, P., Fressart, V., Vilquin, J. T., Isnard, R., Gouya, L., Richard, P., Hammoudi, N., Komajda, M., Bonne, G., Eschenhagen, T., Dubourg, O., Villard, E., Carrier, L. :
A novel genetic variant in the transcription factor Islet-1 exerts gain of function on myocyte enhancer factor 2C promoter activity Eur J Heart Fail, 2013 ; 15 (3) : 267-76
A novel genetic variant in the transcription factor Islet-1 exerts gain of function on myocyte enhancer factor 2C promoter activity Eur J Heart Fail, 2013 ; 15 (3) : 267-76
Vignier, N., Amor, F., Fogel, P., Duvallet, A., Poupiot, J., Charrier, S., Arock, M., Montus, M., Nelson, I., Richard, I., Carrier, L., Servais, L., Voit, T., Bonne, G., Israeli, D. :
Distinctive Serum miRNA Profile in Mouse Models of Striated Muscular Pathologies PLoS ONE, 2013 ; 8 (2) : e55281
Distinctive Serum miRNA Profile in Mouse Models of Striated Muscular Pathologies PLoS ONE, 2013 ; 8 (2) : e55281
Denard, J., Marolleau, B., Jenny, C., Rao, T. N., Fehling, H. J., Voit, T., Svinartchouk, F. :
C-reactive protein (CRP) is essential for efficient systemic transduction of recombinant adeno-associated virus vector 1 (rAAV-1) and rAAV-6 in mice J Virol, 2013 ; 87 (19) : 10784-91
C-reactive protein (CRP) is essential for efficient systemic transduction of recombinant adeno-associated virus vector 1 (rAAV-1) and rAAV-6 in mice J Virol, 2013 ; 87 (19) : 10784-91
Le Panse, R., Berrih-Aknin, S. :
Autoimmune myasthenia gravis: autoantibody mechanisms and new developments on immune regulation Curr Opin Neurol, 2013 ; 26 (5) : 569-76
Autoimmune myasthenia gravis: autoantibody mechanisms and new developments on immune regulation Curr Opin Neurol, 2013 ; 26 (5) : 569-76
Caruso, N., Herberth, B., Bartoli, M., Puppo, F., Dumonceaux, J., Zimmermann, A., Denadai, S., Lebosse, M., Roche, S., Geng, L., Magdinier, F., Attarian, S., Bernard, R., Maina, F., Levy, N., Helmbacher, F. :
Deregulation of the Protocadherin Gene FAT1 Alters Muscle Shapes: Implications for the Pathogenesis of Facioscapulohumeral Dystrophy PLoS Genet, 2013 ; 9 (6) : e1003550
Deregulation of the Protocadherin Gene FAT1 Alters Muscle Shapes: Implications for the Pathogenesis of Facioscapulohumeral Dystrophy PLoS Genet, 2013 ; 9 (6) : e1003550
