Preisler, N., Orngreen, M. C., Echaniz-Laguna, A., Laforet, P., Lonsdorfer-Wolf, E., Doutreleau, S., Geny, B., Akman, H. O., Dimauro, S., Vissing, J. :
Muscle phosphorylase kinase deficiency: A neutral metabolic variant or a disease?
Neurology, 2012 ; 78 (4) : 265-8
Publications (1181)
Yger, M., Stojkovic, T., Tardieu, S., Maisonobe, T., Brice, A., Echaniz-Laguna, A., Alembik, Y., Girard, S., Cazeneuve, C., Leguern, E., Dubourg, O. :
Characteristics of clinical and electrophysiological pattern of Charcot-Marie-Tooth 4C J Peripher Nerv Syst, 2012 ; 17 (1) : 112-122
Characteristics of clinical and electrophysiological pattern of Charcot-Marie-Tooth 4C J Peripher Nerv Syst, 2012 ; 17 (1) : 112-122
Charrier, S., Ferrand, M., Zerbato, M., Precigout, G., Viornery, A., Bucher-Laurent, S., Benkhelifa-Ziyyat, S., Merten, O. W., Perea, J., Galy, A. :
Quantification of lentiviral vector copy numbers in individual hematopoietic colony-forming cells shows vector dose-dependent effects on the frequency and level of transduction Gene Ther, 2011 ; 18 (5) : 479-87
Quantification of lentiviral vector copy numbers in individual hematopoietic colony-forming cells shows vector dose-dependent effects on the frequency and level of transduction Gene Ther, 2011 ; 18 (5) : 479-87
Koutsoulidou, A., Mastroyiannopoulos, N. P., Furling, D., Uney, J. B., Phylactou, L. A. :
Endogenous TWIST expression and differentiation are opposite during human muscle development Muscle Nerve, 2011 ; 44 (6) : 984-6
Endogenous TWIST expression and differentiation are opposite during human muscle development Muscle Nerve, 2011 ; 44 (6) : 984-6
Romero, N. B., Bitoun, M. :
Centronuclear myopathies Semin Pediatr Neurol, 2011 ; 18 (4) : 250-6
Centronuclear myopathies Semin Pediatr Neurol, 2011 ; 18 (4) : 250-6
Baraibar, M. A., Hyzewicz, J., Rogowska-Wresinska, A., Ladouce, R., Roepstorff, P., Mouly, V., Friguet, B. :
Oxidative stress-induced proteome alterations target different cellular pathways in human myoblasts Free Radic Biol Med, 2011 ; 51 (8) : 1522-1532
Oxidative stress-induced proteome alterations target different cellular pathways in human myoblasts Free Radic Biol Med, 2011 ; 51 (8) : 1522-1532
Forsha, D., Li, J. S., Smith, P. B., van der Ploeg, A. T., Kishnani, P., Pasquali, S. K., Laforet, P :
Cardiovascular abnormalities in late-onset Pompe disease and response to enzyme replacement therapy Genet Med, 2011 ; 13 (7) : 625-631
Cardiovascular abnormalities in late-onset Pompe disease and response to enzyme replacement therapy Genet Med, 2011 ; 13 (7) : 625-631
Mayeuf, A., Relaix, F. :
La voie Notch – Du developpement a la regeneration du muscle squelettique. Med Sci (Paris), 2011 ; 27 (5) : 521-526
La voie Notch – Du developpement a la regeneration du muscle squelettique. Med Sci (Paris), 2011 ; 27 (5) : 521-526
Vieitez, I., Teijeira, S., Fernandez, J. M., San Millan, B., Miranda, S., Ortolano, S., Louis, S., Laforet, P., Navarro, C. :
Molecular and clinical study of McArdle’s disease in a cohort of 123 European patients. Identification of 20 novel mutations Neuromuscul Disord, 2011 ; 21 (12) : 817-823
Molecular and clinical study of McArdle’s disease in a cohort of 123 European patients. Identification of 20 novel mutations Neuromuscul Disord, 2011 ; 21 (12) : 817-823
Besson, V., Smeriglio, P., Wegener, A., Relaix, F., Oumesmar, B. N., Sassoon, D. A., Marazzi, G. :
PW1 gene/paternally expressed gene 3 (PW1/Peg3) identifies multiple adult stem and progenitor cell populations Proc Natl Acad Sci U S A, 2011 ; 108 (28) : 11470-5
PW1 gene/paternally expressed gene 3 (PW1/Peg3) identifies multiple adult stem and progenitor cell populations Proc Natl Acad Sci U S A, 2011 ; 108 (28) : 11470-5
