Paediatric‐onset neuronal ceroid lipofuscinosis: first symptoms and presentation at diagnosis von Dozières‐Puyravel, Blandine, Nasser, Hala, Elmaleh‐Bergès, Monique, Lopez Hernandez, Elisa, Gelot, Antoinette, Ilea, Adina, Delanoë, Catherine, Puech, Jean‐Philippe, Caillaud, Catherine, Pichard, Samia, Auvin, Stéphane

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Barth syndrome: Cellular compensation of mitochondrial dysfunction and apoptosis inhibition due to changes in cardiolipin remodeling linked to tafazzin (TAZ) gene mutation von Gonzalvez, François, D'Aurelio, Marilena, Boutant, Marie, Moustapha, Aoula, Puech, Jean-Philippe, Landes, Thomas, Arnauné-Pelloquin, Laeticia, Vial, Guillaume, Taleux, Nellie, Slomianny, Christian, Wanders, Ronald J., Houtkooper, Riekelt H., Bellenguer, Pascale, Møller, Ian Max, Gottlieb, Eyal, Vaz, Frederic M., Manfredi, Giovanni, Petit, Patrice X.

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Inhibition of Lysosome Membrane Recycling Causes Accumulation of Gangliosides that Contribute to Neurodegeneration von Boutry, Maxime, Branchu, Julien, Lustremant, Céline, Pujol, Claire, Pernelle, Julie, Matusiak, Raphaël, Seyer, Alexandre, Poirel, Marion, Chu-Van, Emeline, Pierga, Alexandre, Dobrenis, Kostantin, Puech, Jean-Philippe, Caillaud, Catherine, Durr, Alexandra, Brice, Alexis, Colsch, Benoit, Mochel, Fanny, El Hachimi, Khalid Hamid, Stevanin, Giovanni, Darios, Frédéric

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Intravenous administration of scAAV9-Hexb normalizes lifespan and prevents pathology in Sandhoff disease mice von Niemir, Natalia, Rouvière, Laura, Besse, Aurore, Vanier, Marie T, Dmytrus, Jasmin, Marais, Thibaut, Astord, Stéphanie, Puech, Jean-Philippe, Panasyuk, Ganna, Cooper, Jonathan D, Barkats, Martine, Caillaud, Catherine

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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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Characterization of seven novel mutations on the HEXB gene in French Sandhoff patients von Gaignard, Pauline, Fagart, Jérôme, Niemir, Natalia, Puech, Jean-Philippe, Azouguene, Emilie, Dussau, Jeanne, Caillaud, Catherine

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Rapid identification of HEXA mutations in Tay-Sachs patients von Giraud, Carole, Dussau, Jeanne, Azouguene, Emilie, Feillet, François, Puech, Jean-Philippe, Caillaud, Catherine

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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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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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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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A 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, Benoît, 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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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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PROCEDE DE GENERATION D'UN SIGNAL VIDEO AU STANDARD AMERICAIN A PARTIR D'UN DISPOSITIF A TRANSFERT DE CHARGE AU STANDARD EUROPEEN, ET UNITE DE CONTROLE D'UN TEL DISPOSITIF EN VUE D... von PHILIPPE PUECH, JEAN CONTER ET ANDRE BRUEL

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PROCEDE DE GENERATION D'UN SIGNAL VIDEO AU STANDARD AMERICAIN A PARTIR D'UN DISPOSITIF A TRANSFERT DE CHARGE AU STANDARD EUROPEEN, ET UNITE DE CONTROLE D'UN TEL DISPOSITIF EN VUE D... von PHILIPPE PUECH, JEAN CONTER ET ANDRE BRUEL

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Derivatives of piperidinyl- and piperazinyl-alkyl carbamates, preparation methods thereof and application of same in therapeutics von ABOUABDELLAH AHMED,BURNIER PHILIPPE,HOORNAERT CHRISTIAN,JEUNESSE JEAN,PUECH FREDERIC

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Use of prostate systematic and targeted biopsy on the basis of multiparametric MRI in biopsy-naive patients (MRI-FIRST): a prospective, multicentre, paired diagnostic study von Rouvière, Olivier, Puech, Philippe, Renard-Penna, Raphaële, Claudon, Michel, Roy, Catherine, Mège-Lechevallier, Florence, Decaussin-Petrucci, Myriam, Dubreuil-Chambardel, Marine, Magaud, Laurent, Remontet, Laurent, Ruffion, Alain, Colombel, Marc, Crouzet, Sébastien, Schott, Anne-Marie, Lemaitre, Laurent, Rabilloud, Muriel, Grenier, Nicolas, Barry Delongchamps, Nicolas, Boutier, Romain, Bratan, Flavie, Brunelle, Serge, Camparo, Philippe, Colin, Pierre, Corréas, Jean-Michel, Cornélis, François, Cornud, François, Cros, Fanny, Descotes, Jean-Luc, Eschwege, Pascal, Fiard, Gaelle, Fendler, Jean-Philippe, Habchi, Hocine, Hallouin, Philippe, Khairoune, Ahmed, Lang, Hervé, Lebras, Yann, Lefèvre, Frédéric, Malavaud, Bernard, Moldovan, Paul Cezar, Mottet, Nicolas, Mozer, Pierre, Nevoux, Pierre, Pagnoux, Gaele, Pasticier, Gilles, Portalez, Daniel, Potiron, Eric, Thammavong, Athivada Soto, Timsit, Marc-Olivier, Viller, Arnault, Walz, Jochen

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Prazosin and cyproheptadine in combination in the treatment of alcohol use disorder: A randomized, double‐blind, placebo‐controlled trial von Aubin, Henri‐Jean, Berlin, Ivan, Guiraud, Julien, Bruhwyler, Jacques, Batel, Philippe, Perney, Pascal, Trojak, Benoît, Bendimerad, Patrick, Guillou, Morgane, Bisch, Michaël, Grall‐Bronnec, Marie, Labarrière, Damien, Delsart, Dominique, Questel, Frank, Moirand, Romain, Bernard, Philippe, Trovero, Fabrice, Pham, Hang Phuong, Tassin, Jean‐Pol, Puech, Alain

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Imaging protocols for renal multiparametric MRI and MR urography: results of a consensus conference from the French Society of Genitourinary Imaging von Rouvière, Olivier, Cornelis, François, Brunelle, Serge, Roy, Catherine, André, Marc, Bellin, Marie-France, Boulay, Isabelle, Eiss, David, Girouin, Nicolas, Grenier, Nicolas, Hélénon, Olivier, Lapray, Jean-François, Lefèvre, Arnaud, Matillon, Xavier, Ménager, Jean-Michel, Millet, Ingrid, Ronze, Sébastien, Sanzalone, Thomas, Tourniaire, Jean, Rocher, Laurence, Renard-Penna, Raphaële

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Imaging protocols for CT urography: results of a consensus conference from the French Society of Genitourinary Imaging von Renard-Penna, Raphaële, Rocher, Laurence, Roy, Catherine, André, Marc, Bellin, Marie-France, Boulay, Isabelle, Eiss, David, Girouin, Nicolas, Grenier, Nicolas, Hélénon, Olivier, Lapray, Jean-François, Lefèvre, Arnaud, Matillon, Xavier, Ménager, Jean-Michel, Millet, Ingrid, Ronze, Sébastien, Sanzalone, Thomas, Tourniaire, Jean, Brunelle, Serge, Rouvière, Olivier

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A multicenter comparative matched-pair analysis of percutaneous tumor ablation and robotic-assisted partial nephrectomy of T1b renal cell carcinoma (AblatT1b study—UroCCR 80) von Cazalas, Grégoire, Klein, Clément, Piana, Gilles, De Kerviler, Eric, Gangi, Afshin, Puech, Philippe, Nedelcu, Cosmina, Grange, Remi, Buy, Xavier, Jegonday, Marc-Antoine, Bigot, Pierre, Bensalah, Charles Karim, Gaillard, Victor, Pignot, Géraldine, Paparel, Philippe, Badet, Lionel, Michiels, Clément, Bernhard, Jean Christophe, Rouviere, Olivier, Grenier, Nicolas, Marcelin, Clément

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