Michon, C. C., Gargiulo, M., Hahn-Barma, V., Petit, F., Nadaj-Pakleza, A., Herson, A., Eymard, B., Labrune, P., Laforet, P. :
Cognitive profile of patients with glycogen storage disease type III: a clinical description of seven cases
J Inherit Metab Dis, 2015 ; 38 (3) : 573-580
Publications (1184)
Rau, F, Lainé, J, Ramanoudjame, L, Ferry, A, Arandel, L, Delalande, O, Jollet, A, Dingli, F, Lee, K Y, Peccate, C, Lorain, S, Kabashi, E, Athansopoulos, T, Koo, T, Loew, D, Swanson, M, Le Rumeur, E, Dickson, G, Allamand, V, Marie, J, Furling, D :
Abnormal splicing switch of DMD’s penultimate exon compromises muscle fiber maintenance in Myotonic Dystrophy Nat Commun, 2015 ; 6 : 7205
Abnormal splicing switch of DMD’s penultimate exon compromises muscle fiber maintenance in Myotonic Dystrophy Nat Commun, 2015 ; 6 : 7205
Boisgerault, F., Mingozzi, F. :
The Skeletal Muscle Environment and Its Role in Immunity and Tolerance to AAV Vector-Mediated Gene Transfer Curr Gene Ther, 2015 ; 15 (4) : 381-94
The Skeletal Muscle Environment and Its Role in Immunity and Tolerance to AAV Vector-Mediated Gene Transfer Curr Gene Ther, 2015 ; 15 (4) : 381-94
Latroche, C., Matot, B., Martins-Bach, A., Briand, D., Chazaud, B., Wary, C., Carlier, P. G., Chretien, F., Jouvion, G. :
Structural and Functional Alterations of Skeletal Muscle Microvasculature in Dystrophin-Deficient mdx Mice Am J Pathol, 2015 ; 185 (9) : 2482-94
Structural and Functional Alterations of Skeletal Muscle Microvasculature in Dystrophin-Deficient mdx Mice Am J Pathol, 2015 ; 185 (9) : 2482-94
D'Alessandro, M., Hnia, K., Gache, V., Koch, C., Gavriilidis, C., Rodriguez, D., Nicot, A. S., Romero, N. B., Schwab, Y., Gomes, E., Labouesse, M., Laporte, J. :
Amphiphysin 2 Orchestrates Nucleus Positioning and Shape by Linking the Nuclear Envelope to the Actin and Microtubule Cytoskeleton Dev Cell, 2015 ; 35 (2) : 186-98
Amphiphysin 2 Orchestrates Nucleus Positioning and Shape by Linking the Nuclear Envelope to the Actin and Microtubule Cytoskeleton Dev Cell, 2015 ; 35 (2) : 186-98
Crudele, J. M., Finn, J. D., Siner, J. I., Martin, N. B., Niemeyer, G. P., Zhou, S., Mingozzi, F., Lothrop, C. D., Jr., Arruda, V. R. :
AAV liver expression of FIX-Padua prevents and eradicates FIX inhibitor without increasing thrombogenicity in hemophilia B dogs and mice Blood, 2015 ; 125 (10) : 1553-1561
AAV liver expression of FIX-Padua prevents and eradicates FIX inhibitor without increasing thrombogenicity in hemophilia B dogs and mice Blood, 2015 ; 125 (10) : 1553-1561
Allenbach, Y., Benveniste, O. :
Apport des auto-anticorps au cours des myopathies auto-immunes. Rev Neurol (Paris), 2014 ; 169 (8-9) : 656-62
Apport des auto-anticorps au cours des myopathies auto-immunes. Rev Neurol (Paris), 2014 ; 169 (8-9) : 656-62
Bouyon, S., Roussel, V., Fromes, Y. :
SERCA2a gene therapy can improve symptomatic heart failure in delta-sarcoglycan deficient animals Hum Gene Ther, 2014 ; 25 (8) : 694-704
SERCA2a gene therapy can improve symptomatic heart failure in delta-sarcoglycan deficient animals Hum Gene Ther, 2014 ; 25 (8) : 694-704
Gargiulo, M., Durr, A. :
Anticipating disability. The psychological risk of genetic testing Esprit, 2014 ; 7 : 52-65
Anticipating disability. The psychological risk of genetic testing Esprit, 2014 ; 7 : 52-65
Nicole, S., Chaouch, A., Torbergsen, T., Bauche, S., de Bruyckere, E., Fontenille, M. J., Horn, M. A., van Ghelue, M., Loseth, S., Issop, Y., Cox, D., Muller, J. S., Evangelista, T., Stalberg, E., Ioos, C., Barois, A., Brochier, G., Sternberg, D., Fournier, E., Hantai, D., Abicht, A., Dusl, M., Laval, S. H., Griffin, H., Eymard, B., Lochmuller, H. :
Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy Brain, 2014 ; 137 (9) : 2429-43
Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy Brain, 2014 ; 137 (9) : 2429-43
