Juvenile and adult-onset acid maltase deficiency in France: Genotype-phenotype correlation von LAFORET, P, NICOLINO, M, EYMARD, B, PUECH, J. P, CAILLAUD, C, POENARU, L, FARDEAU, M

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Muscle as a putative producer of acid α-glucosidase for glycogenosis type II gene therapy von Martin-Touaux, E., Puech, J.P., Château, D., Emiliani, C., Kremer, E.J., Raben, N., Tancini, B., Orlacchio, A., Kahn, A., Poenaru, L.

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Adenovirus-Mediated Transfer of the Acid α-Glucosidase Gene into Fibroblasts, Myoblasts and Myotubes from Patients with Glycogen Storage Disease Type II Leads to High Level Express... von Nicolino, Marc P., Puech, Jean-Philippe, Kremer, Erik J., Reuser, Arnold J. J., Mbebi, Corinne, Verdière-Sahuqué, Martine, Kahn, Axel, Poenaru, Livia

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Exhaustive Screening of the Acid β-Glucosidase Gene, by Fluorescence-Assisted Mismatch Analysis Using Universal Primers: Mutation Profile and Genotype/Phenotype Correlations in Gau... von Germain, Dominique P., Puech, Jean-Philippe, Caillaud, Catherine, Kahn, Axel, Poenaru, Livia

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Disruption of murine Hexa gene leads to enzymatic deficiency and to neuronal lysosomal storage, similar to that observed in Tay-Sachs disease von Cohen-Tannoudji, M, Marchand, P, Akli, S, Sheardown, S A, Puech, J P, Kress, C, Gressens, P, Nassogne, M C, Beccari, T, Muggleton-Harris, A L

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canine Arylsulfatase G (ARSG) mutation leading to a sulfatase deficiency is associated with neuronal ceroid lipofuscinosis von Abitbol, Marie, Thibaud, Jean-Laurent, Olby, Natasha J, Hitte, Christophe, Puech, Jean-Philippe, Maurer, Marie, Pilot-Storck, Fanny, Hédan, Benoit, Dréano, Stéphane, Brahimi, Sandra, Delattre, Delphine, André, Catherine, Gray, Françoise, Delisle, Françoise, Caillaud, Catherine, Bernex, Florence, Panthier, Jean-Jacques, Aubin-Houzelstein, Geneviève, Blot, Stéphane, Tiret, Laurent

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Progrès récents dans le diagnostic génétique des céroïde-lipofuscinoses von Caillaud, C., Puech, J.-P., Dussau, J., Poenaru, L.

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Prevention of neuropathology in the mouse model of hurler syndrome von Desmaris, Nathalie, Verot, Lucie, Puech, Jean Philippe, Caillaud, Catherine, Vanier, Marie Thérèse, Heard, Jean Michel

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Glycogen-Storage Disease Type II (Acid Maltase Deficiency): Identification of a Novel Small Deletion (delCC482+483) in French Patients von Nicolino, Marc, Puech, Jean Philippe, Letourneur, Franck, Fardeau, Michel, Kahn, Axel, Poenaru, Livia

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Muscle as a putative producer of acid [alpha]-glucosidase for glycogenosis type II gene therapy von Martin-Touaux, E, Puech, J P, Chateau, D, Emiliani, C, Kremer, E J, Raben, N, Tancini, B, Orlacchio, A, Kahn, A, Poenaru, L

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Fabry disease: from clinical manifestations to molecular mechanisms von Azibi, K, Heltianu, C, Caillaud, C, Manicom, J, Puech, JP, Kahn, A, Poenaru, L

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Adenovirus-Mediated Transfer of the Acid  -Glucosidase Gene into Fibroblasts, Myoblasts and Myotubes from Patients with Glycogen Storage Disease Type II Leads to High Level Express... von Nicolino, M. P., Puech, J.-P., Kremer, E. J., Reuser, A. J. J., Mbebi, C., Verdiere-Sahuque, M., Kahn, A., Poenaru, L.

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Apport de la diagraphie micro-sismique a l'evaluation des deblais rocheux von Puech, J. P., Guenoun, A., Havard, H., Bioche, P.

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Tensile forces govern germ-layer organization in zebrafish von Krieg, M., Arboleda-Estudillo, Y., Puech, P.-H., Käfer, J., Graner, F., Müller, D. J., Heisenberg, C.-P.

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Dynamic monitoring of cell mechanical properties using profile microindentation von Guillou, L., Babataheri, A., Puech, P.-H., Barakat, A. I., Husson, J.

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The chemical enrichment of long gamma-ray bursts nurseries up to z = 2 von Vergani, S. D., Palmerio, J., Salvaterra, R., Japelj, J., Mannucci, F., Perley, D. A., D’Avanzo, P., Krühler, T., Puech, M., Boissier, S., Campana, S., Covino, S., Hunt, L. K., Petitjean, P., Tagliaferri, G.

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Advanced spectroscopic analyses on a:C-H materials: Revisiting the EELS characterization and its coupling with multi-wavelength Raman spectroscopy von Lajaunie, L., Pardanaud, C., Martin, C., Puech, P., Hu, C., Biggs, M.J., Arenal, R.

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Geant4 physics processes for microdosimetry and secondary electron emission simulation: Extension of MicroElec to very low energies and 11 materials (C, Al, Si, Ti, Ni, Cu, Ge, Ag,... von Gibaru, Q., Inguimbert, C., Caron, P., Raine, M., Lambert, D., Puech, J.

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Mechanical properties of graphene von Sun, Y. W., Papageorgiou, D. G., Humphreys, C. J., Dunstan, D. J., Puech, P., Proctor, J. E., Bousige, C., Machon, D., San-Miguel, A.

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The MUSE view of the host galaxy of GRB 100316D von Izzo, L., Thöne, C. C., Schulze, S., Mehner, A., Flores, H., Cano, Z., de Ugarte Postigo, A., Kann, D. A., Amorín, R., Anderson, J. P., Bauer, F. E., Bensch, K., Christensen, L., Covino, S., Della Valle, M., Fynbo, J. P. U., Jakobsson, P., Klose, S., Kuncarayakti, H., Leloudas, G., Milvang-Jensen, B., Møller, P., Puech, M., Rossi, A., Sánchez-Ramírez, R., Vergani, S. D.

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