Malfatti, E., Lehtokari, V. L., Bohm, J., De Winter, J. M., Schaffer, U., Estournet, B., Quijano-Roy, S., Monges, S., Lubieniecki, F., Bellance, R., Viou, M. T., Madelaine, A., Wu, B., Taratuto, A. L., Eymard, B., Pelin, K., Fardeau, M., Ottenheijm, C. A., Wallgren-Pettersson, C., Laporte, J., Romero, N. B. :
Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype
Acta Neuropathol Commun, 2014 ; 2 (1) : 44
Publications (1181)
Sillanpaa, E., Stenroth, L., Bijlsma, A. Y., Rantanen, T., McPhee, J. S., Maden-Wilkinson, T. M., Jones, D. A., Narici, M. V., Gapeyeva, H., Paasuke, M., Barnouin, Y., Hogrel, J. Y., Butler-Browne, G. S., Meskers, C. G., Maier, A. B., Tormakangas, T., Sipila, S. :
Associations between muscle strength, spirometric pulmonary function and mobility in healthy older adults Age (Dordr), 2014 ; 36 (4) : 9667
Associations between muscle strength, spirometric pulmonary function and mobility in healthy older adults Age (Dordr), 2014 ; 36 (4) : 9667
Duguez, S., Duddy, W., Johnston, H., Laine, J., Le Bihan, M. C., Brown, K. J., Bigot, A., Hathout, Y., Butler-Browne, G., Partridge, T. :
Dystrophin deficiency leads to disturbance of LAMP1-vesicle-associated protein secretion Cell Mol Life Sci, 2013 ; 70 (12) : 2159-2174
Dystrophin deficiency leads to disturbance of LAMP1-vesicle-associated protein secretion Cell Mol Life Sci, 2013 ; 70 (12) : 2159-2174
Laforet, P., Laloui, K., Granger, B., Hamroun, D., Taouagh, N., Hogrel, J. Y., Orlikowski, D., Bouhour, F., Lacour, A., Salort-Campana, E., Penisson-Besnier, I., Sacconi, S., Zagnoli, F., Chapon, F., Eymard, B., Desnuelle, C., Pouget, J. :
The French Pompe registry. Baseline characteristics of a cohort of 126 patients with adult Pompe disease Rev Neurol (Paris), 2013 ; 169 (8-9) : 595-602
The French Pompe registry. Baseline characteristics of a cohort of 126 patients with adult Pompe disease Rev Neurol (Paris), 2013 ; 169 (8-9) : 595-602
Ravenscroft, G., Miyatake, S., Lehtokari, V. L., Todd, E. J., Vornanen, P., Yau, K. S., Hayashi, Y. K., Miyake, N., Tsurusaki, Y., Doi, H., Saitsu, H., Osaka, H., Yamashita, S., Ohya, T., Sakamoto, Y., Koshimizu, E., Imamura, S., Yamashita, M., Ogata, K., Shiina, M., Bryson-Richardson, R. J., Vaz, R., Ceyhan, O., Brownstein, C. A., Swanson, L. C., Monnot, S., Romero, N. B., Amthor, H., Kresoje, N., Sivadorai, P., Kiraly-Borri, C., Haliloglu, G., Talim, B., Orhan, D., Kale, G., Charles, A. K., Fabian, V. A., Davis, M. R., Lammens, M., Sewry, C. A., Manzur, A., Muntoni, F., Clarke, N. F., North, K. N., Bertini, E., Nevo, Y., Willichowski, E., Silberg, I. E., Topaloglu, H., Beggs, A. H., Allcock, R. J., Nishino, I., Wallgren-Pettersson, C., Matsumoto, N., Laing, N. G. :
Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy Am J Hum Genet, 2013 ; 93 (1) : 6-18
Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy Am J Hum Genet, 2013 ; 93 (1) : 6-18
Simon, D., Alberti, C., Alison, M., Lehenaff, L., Chevenne, D., Boizeau, P., Canal, A., Ollivier, G., Decostre, V., Jacqz-Aigrain, E., Carel, J. C., Czernichow, P., Hogrel, J. Y. :
Effects of Recombinant Human Growth Hormone for 1 Year on Body Composition and Muscle Strength in Children on Long-Term Steroid Therapy: Randomized Controlled, Delayed-Start Study J Clin Endocrinol Metab, 2013 ; 98 (7) : 2746-54
Effects of Recombinant Human Growth Hormone for 1 Year on Body Composition and Muscle Strength in Children on Long-Term Steroid Therapy: Randomized Controlled, Delayed-Start Study J Clin Endocrinol Metab, 2013 ; 98 (7) : 2746-54
Preisler, N., Pradel, A., Husu, E., Madsen, K. L., Becquemin, M. H., Mollet, A., Labrune, P., Petit, F., Hogrel, J. Y., Jardel, C., Maillot, F., Vissing, J., Laforet, P. :
Exercise intolerance in Glycogen Storage Disease Type III: Weakness or energy deficiency? Mol Genet Metab, 2013 ; 109 (1) : 14-20
Exercise intolerance in Glycogen Storage Disease Type III: Weakness or energy deficiency? Mol Genet Metab, 2013 ; 109 (1) : 14-20
Pilat, U., Dechat, T., Bertrand, A. T., Woisetschlager, N., Gotic, I., Spilka, R., Biadasiewicz, K., Bonne, G., Foisner, R. :
Muscle dystrophy-causing DeltaK32 lamin A/C mutant does not impair functions of nucleoplasmic LAP2alpha – lamin A/C complexes in mice J Cell Sci, 2013 ; 126 (Pt 8) : 1753-62
Muscle dystrophy-causing DeltaK32 lamin A/C mutant does not impair functions of nucleoplasmic LAP2alpha – lamin A/C complexes in mice J Cell Sci, 2013 ; 126 (Pt 8) : 1753-62
Calderon, J., Bonnet, D., Pinabiaux, C., Jambaque, I., Angeard, N. :
Use of early remedial services in children with transposition of the great arteries J Pediatr, 2013 ; 163 (4) : 1105-10
Use of early remedial services in children with transposition of the great arteries J Pediatr, 2013 ; 163 (4) : 1105-10
Lim, J. J., Ngah, W. Z., Mouly, V., Abdul Karim, N. :
Reversal of myoblast aging by tocotrienol rich fraction posttreatment Oxid Med Cell Longev, 2013 ; 2013 : 978101
Reversal of myoblast aging by tocotrienol rich fraction posttreatment Oxid Med Cell Longev, 2013 ; 2013 : 978101
