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)
Clément, S., Gargiulo, M., Feingold, J., Durr, A. :
Lignes directrices et bonnes pratiques du test présymptomatique de la maladie de Huntington : passé, présent et futur en France Revue neurologique, 2015 ; 171 (6-7) : 572-580
Lignes directrices et bonnes pratiques du test présymptomatique de la maladie de Huntington : passé, présent et futur en France Revue neurologique, 2015 ; 171 (6-7) : 572-580
De Cid, R., Ben Yaou, R., Roudaut, C., Charton, K., Baulande, S., Leturcq, F., Romero, N. B., Malfatti, E., Beuvin, M., Vihola, A., Criqui, A., Nelson, I., Nectoux, J., Ben Aim, L., Caloustian, C., Olaso, R., Udd, B., Bonne, G., Eymard, B., Richard, I. :
A new titinopathy: Childhood-juvenile onset Emery-Dreifuss-like phenotype without cardiomyopathy Neurology, 2015 ; 85 (24) : 2126-35
A new titinopathy: Childhood-juvenile onset Emery-Dreifuss-like phenotype without cardiomyopathy Neurology, 2015 ; 85 (24) : 2126-35
Gargiulo, M., Rosemblum, O. :
Stigmates Champs Psy, L’esprit du temps, 2015 ; 68 : 5-10
Stigmates Champs Psy, L’esprit du temps, 2015 ; 68 : 5-10
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
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
Hewson, D. J., Duchene, J., Hogrel, J. Y. :
Validation of balance-quality assessment using a modified bathroom scale Physiol Meas, 2015 ; 36 (2) : 207-18
Validation of balance-quality assessment using a modified bathroom scale Physiol Meas, 2015 ; 36 (2) : 207-18
