464 results on '"Verny, Christophe"'
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2. Letter to the editor on: prophylactic nicotinamide treatment protects from rotenone-induced neurodegeneration by increasing mitochondrial content and volume
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Bocca, Cinzia, Kouassi-Nzoughet, Judith, Chao de la Barca, Juan Manuel, Bonneau, Dominique, Verny, Christophe, Gohier, Philippe, Orssaud, Christophe, and Reynier, Pascal
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- 2024
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3. “Ten euros now” temporal discounting in Huntington disease
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El Haj, Mohamad, Caillaud, Marie, Moustafa, Ahmed, Prundean, Adriana, Scherer, Clarisse, Verny, Christophe, and Allain, Philippe
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- 2023
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4. The burden of Huntington's disease: A prospective longitudinal study of patient/caregiver pairs
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Youssov, Katia, Audureau, Etienne, Vandendriessche, Henri, Morgado, Graca, Layese, Richard, Goizet, Cyril, Verny, Christophe, Bourhis, Marie-Laure, and Bachoud-Lévi, Anne-Catherine
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- 2022
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5. Safety and efficacy of riluzole in spinocerebellar ataxia type 2 in France (ATRIL): a multicentre, randomised, double-blind, placebo-controlled trial
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Coarelli, Giulia, Heinzmann, Anna, Ewenczyk, Claire, Fischer, Clara, Chupin, Marie, Monin, Marie-Lorraine, Hurmic, Hortense, Calvas, Fabienne, Calvas, Patrick, Goizet, Cyril, Thobois, Stéphane, Anheim, Mathieu, Nguyen, Karine, Devos, David, Verny, Christophe, Ricigliano, Vito A G, Mangin, Jean-François, Brice, Alexis, Tezenas du Montcel, Sophie, and Durr, Alexandra
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- 2022
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6. L’étude de l’ultrastructure mitochondriale au niveau de la lame criblée du nerf optique met en évidence des altérations pré-symptomatiques distinctes entre les atrophies optiques liées aux mutations des gènes OPA1 et ND6
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Bureau, Jacques, primary, Manero, Florence, additional, Baris, Olivier, additional, Verny, Christophe, additional, Lenaers, Guy, additional, and Codron, Philippe, additional
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- 2024
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7. Opsoclonus-myoclonus chez l’adulte : autour d’un cas
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Chaddad, Mohamad, primary, Guillet-Pichon, Virginie, additional, Valadoux, Anne-Sophie, additional, and Verny, Christophe, additional
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- 2024
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8. Improved detection of mitochondrial DNA instability in mitochondrial genome maintenance disorders
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Bris, Celine, Goudenège, David, Desquiret-Dumas, Valerie, Gueguen, Naig, Bannwarth, Sylvie, Gaignard, Pauline, Rucheton, Benoit, Trimouille, Aurelien, Allouche, Stephane, Rouzier, Cecile, Saadi, Samira, Jardel, Claude, Slama, Abdel, Barth, Magalie, Verny, Christophe, Spinazzi, Marco, Cassereau, Julien, Colin, Estelle, Armelle, Magot, Pereon, Yann, Martin-Negrier, Marie Laure, Paquis-Flucklinger, Veronique, Letournel, Franck, Lenaers, Guy, Bonneau, Dominique, Reynier, Pascal, Amati-Bonneau, Patrizia, and Procaccio, Vincent
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- 2021
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9. Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment
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Roux, Thomas, Barbier, Mathieu, Papin, Mélanie, Davoine, Claire-Sophie, Sayah, Sabrina, Coarelli, Giulia, Charles, Perrine, Marelli, Cecilia, Parodi, Livia, Tranchant, Christine, Goizet, Cyril, Klebe, Stephan, Lohmann, Ebba, Van Maldergem, Lionel, van Broeckhoven, Christine, Coutelier, Marie, Tesson, Christelle, Stevanin, Giovanni, Duyckaerts, Charles, Brice, Alexis, Durr, Alexandra, Darios, Frédéric, Forlani, Sylvie, Site, Pitié-Salpêtrière, Banneau, Guillaume, Cazeneuve, Cécile, Fontaine, Bertrand, Azulay, Jean-Philippe, Boesfplug-Tanguy, Odile, Hannequin, Didier, Hazan, Jamilé, Burgo, Andrea, Verny, Christophe, Koenig, Michel, Labauge, Pierre, N’guyen, Karine, Rodriguez, Diana, Belarbi, Soraya, Hamri, Abdelmadjid, Tazir, Meriem, Boesch, Sylvia, Pandolfo, Massimo, Laura, Jardim, Guergueltcheva, Velina, Tournev, Ivalo, Pedraza Linarès, Olga Lucia, Nielsen, Jørgen E., Svenstrup, Kirsten, Zaki, Maha, Bauer, Peter, Schöls, Lüdger, Schüle, Rebecca, Lossos, Alexander, Bassi, Maria-Teresa, Basso, Manuela, Bertini, Enrico, Brusco, Alfredo, Casali, Carlo, Casari, Giorgio, Criscuolo, Chiara, Filla, Alessandro, Orsi, Laura, Santorelli, Filippo M., Valente, Enza Maria, Vavla, Marinela, Vazza, Giovanni, Megarbane, André, Benomar, Ali, Kremer, Berry, Van Roon-Mom, Willeke, Roxburgh, Richard, Erichsen, Anne Kjersti, Tallaksen, Chantal, Alonso, Isabel, Coutinho, Paula, Loureiro, José Léal, Sequeiros, Jorge, Salih, Mustapha, Kostic, Vladimir S., Rouco Axpe, Idoia, Elsayed, Liena, Paucar, Martin Arce, Roumani, Samir, Bing-Wen, Soong, Reid, Evan, Suran, Nethisinghe, Warner, Thomas, and Wood, Nicholas
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- 2020
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10. Neocortical morphometry in Huntington's disease: Indication of the coexistence of abnormal neurodevelopmental and neurodegenerative processes
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Mangin, Jean-Francois, Rivière, Denis, Duchesnay, Edouard, Cointepas, Yann, Gaura, Véronique, Verny, Christophe, Damier, Philippe, Krystkowiak, Pierre, Bachoud-Lévi, Anne-Catherine, Hantraye, Philippe, Remy, Philippe, and Douaud, Gwenaëlle
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- 2020
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11. Oxidative stress contributes differentially to the pathophysiology of Charcot-Marie-Tooth disease type 2K
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Cassereau, Julien, Chevrollier, Arnaud, Codron, Philippe, Goizet, Cyril, Gueguen, Naïg, Verny, Christophe, Reynier, Pascal, Bonneau, Dominique, Lenaers, Guy, and Procaccio, Vincent
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- 2020
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12. Stochastic Optical Reconstruction Microscopy Imaging of Multiple System Atrophy Inclusions Suggests Stepwise α‐Synuclein Aggregation
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Vovard, Benoît, primary, Bodin, Alexia, additional, Gouju, Julien, additional, de Guilhem de Lataillade, Adrien, additional, Derkinderen, Pascal, additional, Etcharry‐Bouyx, Frédérique, additional, Chauviré, Valérie, additional, Guillet‐Pichon, Virginie, additional, Verny, Christophe, additional, Letournel, Franck, additional, Lenaers, Guy, additional, Chevrollier, Arnaud, additional, and Codron, Philippe, additional
- Published
- 2024
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13. Safety and efficacy of pridopidine in patients with Huntington's disease (PRIDE-HD): a phase 2, randomised, placebo-controlled, multicentre, dose-ranging study
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Agarwal, Pinky, Anderson, Karen E, Aziz, Nasir A, Azulay, Jean-Phillippe, Bachoud-Levi, Anne C, Barker, Roger, Bebak, Agnieszka, Beuth, Markus, Biglan, Kevin, Blin, Stephanie, Bohlen, Stefan, Bonelli, Raphael, Caldwell, Sue, Calvas, Fabienne, Carlos, Jonielyn, Castagliuolo, Simona, Chong, Terrence, Chua, Phyllis, Coleman, Allison, Corey-Bloom, Jody, Cousins, Rebecca, Craufurd, David, Davison, Jill, Decorte, Eric, De Michele, Giuseppe, Dornhege, Laura, Feigin, Andrew, Gallehawk, Stephanie, Gauteul, Pascale, Gonzales, Carey, Griffith, Jane, Gustov, Alexander, Guttman, Mark, Heim, Beatrix, Heller, Hope, Hjermind, Lena, Illarioshkin, Sergey, Ivanko, Larry, Jaynes, Jessica, Jenckes, Mollie, Kaminski, Barbara, Kampstra, Anne, Konkel, Agnieszka, Kopishinskaya, Svetlana, Krystkowiak, Pierre, Komati, Suresh K, Kwako, Alexander, Lakoning, Stefan, Latipova, Guzal, Leavitt, Blair, Loy, Clement, MacFarlane, Cheryl, Madsen, Louise, Marder, Karen, Mason, Sarah, Mendis, Neila, Mendis, Tilak, Nemeth, Andrea, Nevitt, Louise, Norris, Virginia, O'Neill, Christine, Olivier, Audrey, Orth, Michael, Owens, Ashley, Panegyres, Peter, Perlman, Susan, Preston, Joy, Priller, Josef, Puch, Alicja, Quarrell, Oliver, Ragosta, Domenica, Rialland, Amandine, Rickards, Hugh, Romoli, Anna M, Ross, Christopher, Rosser, Anne, Rudzinska, Monika, Russo, Cinzina V, Saft, Carsten, Segro, Victoria, Seppi, Klaus, Shannon, Barbara, Shprecher, David, Simonin, Clemence, Skitt, Zara, Slawek, Jaroslaw, Soliveri, Paola, Sorbi, Sandro, Squitieri, Ferdinando, Suski, Valarie, Stepniak, Iwona, Sungmee, Park, Temirbaeva, Sofia, Testa, Claudia, Torvin-Moller, Anette, Uhl, Stefanie, Vangsted-Hansen, Christina, Verny, Christophe, Wall, Paola, Walker, Francis, Wasserman, Paula, Witkowski, Grzegorz, Wright, Jan, Zalyalova, Zuleykha, Zielonka, Daniel, Reilmann, Ralf, McGarry, Andrew, Grachev, Igor D, Savola, Juha-Matti, Borowsky, Beth, Eyal, Eli, Gross, Nicholas, Langbehn, Douglas, Schubert, Robin, Wickenberg, Anna Teige, Papapetropoulos, Spyros, Hayden, Michael, Kieburtz, Karl, and Landwehrmeyer, G Bernhard
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- 2019
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14. The links between social cognition disorders and behavioral disorders in patients with Huntington’s disease
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Allain, Philippe, additional, Caillaud, Marie, additional, Prundean, Adriana, additional, Scherer-Gagou, Clarys, additional, and Verny, Christophe, additional
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- 2023
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15. Transactive response DNA-binding protein 43 is enriched at the centrosome in human cells
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Bodin, Alexia, primary, Greibill, Logan, additional, Gouju, Julien, additional, Letournel, Franck, additional, Pozzi, Silvia, additional, Julien, Jean-Pierre, additional, Renaud, Laurence, additional, Bohl, Delphine, additional, Millecamps, Stéphanie, additional, Verny, Christophe, additional, Cassereau, Julien, additional, Lenaers, Guy, additional, Chevrollier, Arnaud, additional, Tassin, Anne-Marie, additional, and Codron, Philippe, additional
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- 2023
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16. Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study
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Coleman, A, Santos, R Dar, Decolongon, J, Sturrock, A, Bardinet, E, Ret, C Jauff, Justo, D, Lehericy, S, Marelli, C, Nigaud, K, Valabrègue, R, van den Bogaard, SJA, Dumas, E M, van der Grond, J, t'Hart, EP, Jurgens, C, Witjes-Ane, M-N, Arran, N, Callaghan, J, Stopford, C, Frost, C, Jones, R, Hobbs, N, Lahiri, N, Ordidge, R, Owen, G, Pepple, T, Read, J, Say, M, Wild, E, Patel, A, Fox, N C, Gibbard, C, Malone, I, Crawford, H, Whitehead, D, Keenan, S, Cash, D M, Berna, C, Bechtel, N, Bohlen, S, Man, A Hoff, Kraus, P, Axelson, E, Wang, C, Acharya, T, Lee, S, Monaco, W, Campbell, C, Queller, S, Whitlock, K, Campbell, M, Frajman, E, Milchman, C, O'Regan, A, Labuschagne, I, Stout, J, Landwehrmeyer, B, Craufurd, D, Scahill, R, Hicks, S, Kennard, C, Johnson, H, Tobin, A, Rosas, HD, Reilmann, R, Borowsky, B, Pourchot, C, Andrews, S C, Bachoud-Lévi, Anne-Catherine, Bentivoglio, Anna Rita, Biunno, Ida, Bonelli, Raphael, Burgunder, Jean-Marc, Dunnett, Stephen, Ferreira, Joaquim, Handley, Olivia, Heiberg, Arvid, Illmann, Torsten, Landwehrmeyer, G. Bernhard, Levey, Jamie, Ramos-Arroyo, Maria A., Nielsen, Jørgen, Koivisto, Susana Pro, Päivärinta, Markku, Roos, Raymund A.C., Sebastián, A Rojo, Tabrizi, Sarah, Vandenberghe, Wim, Verellen-Dumoulin, Christine, Uhrova, Tereza, Wahlström, Jan, Zaremba, Jacek, Baake, Verena, Barth, Katrin, Garde, Monica Bascuñana, Betz, Sabrina, Bos, Reineke, Callaghan, Jenny, Come, Adrien, Guedes, Leonor Correia, Ecker, Daniel, Finisterra, Ana Maria, Fullam, Ruth, Gilling, Mette, Gustafsson, Lena, Handley, Olivia J, Hvalstedt, Carina, Held, Christine, Koppers, Kerstin, Lamanna, Claudia, Laurà, Matilde, Descals, Asunción Martínez, Martinez-Horta, Saül, Mestre, Tiago, Minster, Sara, Monza, Daniela, Mütze, Lisanne, Oehmen, Martin, Orth, Michael, Padieu, Hélène, Paterski, Laurent, Peppa, Nadia, Di Renzo, Martina, Rialland, Amandine, Røren, Niini, Šašinková, Pavla, Timewell, Erika, Townhill, Jenny, Cubillo, Patricia Trigo, da Silva, Wildson Vieira, van Walsem, Marleen R, Whalstedt, Carina, Witjes-Ané, Marie-Noelle, Witkowski, Grzegorz, Wright, Abigail, Zielonka, Daniel, Zielonka, Eugeniusz, Zinzi, Paola, Bonelli, Raphael M., Lilek, Sabine, Hecht, Karen, Herranhof, Brigitte, Holl, Anna, Kapfhammer, Hans-Peter, Koppitz, Michael, Magnet, Markus, Müller, Nicole, Otti, Daniela, Painold, Annamaria, Reisinger, Karin, Scheibl, Monika, Schöggl, Helmut, Ullah, Jasmin, Braunwarth, Eva-Maria, Brugger, Florian, Buratti, Lisa, Hametner, Eva-Maria, Hepperger, Caroline, Holas, Christiane, Hotter, Anna, Hussl, Anna, Müller, Christoph, Poewe, Werner, Seppi, Klaus, Sprenger, Fabienne, Wenning, Gregor, Boogaerts, Andrea, Calmeyn, Godelinde, Delvaux, Isabelle, Liessens, Dirk, Somers, Nele, Dupuit, Michel, Minet, Cécile, van Paemel, Dominique, Ribaï, Pascale, van Reijen, Dimphna, Klempír, Jirí, Majerová, Veronika, Roth, Jan, Stárková, Irena, Hjermind, Lena E., Jacobsen, Oda, Nielsen, Jørgen E., Larsen, Ida Unmack, Vinther-Jensen, Tua, Hiivola, Heli, Hyppönen, Hannele, Martikainen, Kirsti, Tuuha, Katri, Allain, Philippe, Bonneau, Dominique, Bost, Marie, Gohier, Bénédicte, Guérid, Marie-Anne, Olivier, Audrey, Prundean, Adriana, Scherer-Gagou, Clarisse, Verny, Christophe, Babiloni, Blandine, Debruxelles, Sabrina, Duché, Charlotte, Goizet, Cyril, Jameau, Laetitia, Lafoucrière, Danielle, Spampinato, Umberto, Barthélémy, Rekha, De Bruycker, Christelle, Carette, Maryline Cabaret Anne-Sophie, Defebvre, Eric Decorte Luc, Delliaux, Marie, Delval, Arnaud, Destee, Alain, Dujardin, Kathy, Lemaire, Marie-Hélène, Manouvrier, Sylvie, Peter, Mireille, Plomhouse, Lucie, Sablonnière, Bernard, Simonin, Clémence, Thibault-Tanchou, Stéphanie, Vuillaume, Isabelle, Bellonet, Marcellin, Berrissoul, Hassan, Blin, Stéphanie, Courtin, Françoise, Duru, Cécile, Fasquel, Véronique, Godefroy, Olivier, Krystkowiak, Pierre, Mantaux, Béatrice, Roussel, Martine, Wannepain, Sandrine, Azulay, Jean-Philippe, Delfini, Marie, Eusebio, Alexandre, Fluchere, Frédérique, Mundler, Laura, Anheim, Mathieu, Julié, Celine, Boukbiza, Ouhaid Lagha, Longato, Nadine, Rudolf, Gabrielle, Tranchant, Christine, Zimmermann, Marie-Agathe, Kosinski, Christoph Michael, Milkereit, Eva, Probst, Daniela, Reetz, Kathrin, Sass, Christian, Schiefer, Johannes, Schlangen, Christiane, Werner, Cornelius J., Gelderblom, Harald, Priller, Josef, Prüß, Harald, Spruth, Eike Jakob, Ellrichmann, Gisa, Herrmann, Lennard, Hoffmann, Rainer, Kaminski, Barbara, Kotz, Peter, Prehn, Christian, Saft, Carsten, Lange, Herwig, Maiwald, Robert, Löhle, Matthias, Maass, Antonia, Schmidt, Simone, Bosredon, Cecile, Storch, Alexander, Wolz, Annett, Wolz, Martin, Capetian, Philipp, Lambeck, Johann, Zucker, Birgit, Boelmans, Kai, Ganos, Christos, Heinicke, Walburgis, Hidding, Ute, Lewerenz, Jan, Münchau, Alexander, Schmalfeld, Jenny, Stubbe, Lars, Zittel, Simone, Diercks, Gabriele, Dressler, Dirk, Gorzolla, Heike, Schrader, Christoph, Tacik, Pawel, Ribbat, Michael, Longinus, Bernhard, Bürk, Katrin, Möller, Jens Carsten, Rissling, Ida, Mühlau, Mark, Peinemann, Alexander, Städtler, Michael, Weindl, Adolf, Winkelmann, Juliane, Ziegler, Cornelia, Bechtel, Natalie, Beckmann, Heike, Bohlen, Stefan, Hölzner, Eva, Reilmann, Ralf, Rohm, Stefanie, Rumpf, Silke, Schepers, Sigrun, Weber, Natalia, Dose, Matthias, Leythäuser, Gabriele, Marquard, Ralf, Raab, Tina, Wiedemann, Alexandra, Buck, Andrea, Connemann, Julia, Geitner, Carolin, Kesse, Andrea, Landwehrmeyer, Bernhard, Lang, Christina, Lezius, Franziska, Nepper, Solveig, Niess, Anke, Schneider, Ariane, Schwenk, Daniela, Süßmuth, Sigurd, Trautmann, Sonja, Weydt, Patrick, Cormio, Claudia, Sciruicchio, Vittorio, Serpino, Claudia, de Tommaso, Marina, Capellari, Sabina, Cortelli, Pietro, Galassi, Roberto, Rizzo, Giovanni, Poda, Roberto, Scaglione, Cesa, Bertini, Elisabetta, Ghelli, Elena, Ginestroni, Andrea, Massaro, Francesca, Mechi, Claudia, Paganini, Marco, Piacentini, Silvia, Pradella, Silvia, Romoli, Anna Maria, Sorbi, Sandro, Abbruzzese, Giovanni, di Poggio, Monica Bandettini, Ferrandes, Giovanna, Mandich, Paola, Marchese, Roberta, Albanese, Alberto, Di Bella, Daniela, Castaldo, Anna, Di Donato, Stefano, Gellera, Cinzia, Genitrini, Silvia, Mariotti, Caterina, Nanetti, Lorenzo, Paridi, Dominga, Soliveri, Paola, Tomasello, Chiara, De Michele, Giuseppe, Di Maio, Luigi, Massarelli, Marco, Peluso, Silvio, Roca, Alessandro, Russo, Cinzia Valeria, Salvatore, Elena, Sorrentino, Pierpaolo, Amico, Enrico, Favellato, Mariagrazia, Griguoli, Annamaria, Mazzante, Irene, Petrollini, Martina, Squitieri, Ferdinando, D'Alessio, Barbara, Esposito, Chiara, Bentivoglio, Rita, Frontali, Marina, Guidubaldi, Arianna, Ialongo, Tamara, Jacopini, Gioia, Piano, Carla, Romano, Silvia, Soleti, Francesco, Spadaro, Maria, van Hout, Monique S.E., Verhoeven, Marloes E., van Vugt, Jeroen P.P., de Weert, A. Marit, Bolwijn, J.J.W., Dekker, M., Kremer, B., Leenders, K.L., van Oostrom, J.C.H., van den Bogaard, Simon J.A., Dumas, Eve M., 't Hart, Ellen P., Kremer, Berry, Verstappen, C.C.P., Aaserud, Olaf, C, Jan Frich, Wehus, Ragnhild, Bjørgo, Kathrine, Fannemel, Madeleine, Gørvell, Per F., Lorentzen, Eirin, Retterstøl, Lars, Stokke, Bodil, Bjørnevoll, Inga, Sando, Sigrid Botne, Dziadkiewicz, Artur, Nowak, Malgorzata, Robowski, Piotr, Sitek, Emilia, Slawek, Jaroslaw, Soltan, Witold, Szinwelski, Michal, Blaszcyk, Magdalena, Boczarska-Jedynak, Magdalena, Ciach-Wysocka, Ewelina, Gorzkowska, Agnieszka, Jasinska-Myga, Barbara, Klodowska-Duda, Gabriela, Opala, Gregorz, Stompel, Daniel, Banaszkiewicz, Krzysztof, Bocwinska, Dorota, Bojakowska-Jaremek, Kamila, Dec, Malgorzata, Krawczyk, Malgorzata, Rudzinska, Monika, Szczygiel, Elzbieta, Szczudlik, Andrzej, Wasielewska, Anna, Wójcik, Magdalena, Bryl, Anna, Ciesielska, Anna, Klimberg, Aneta, Marcinkowski, Jerzy, Samara, Husam, Sempolowicz, Justyna, Gogol, Anna, Janik, Piotr, Kwiecinski, Hubert, Jamrozik, Zygmunt, Antczak, Jakub, Jachinska, Katarzyna, Krysa, Wioletta, Rakowicz, Maryla, Richter, Przemyslaw, Rola, Rafal, Ryglewicz, Danuta, Sienkiewicz-Jarosz, Halina, Stepniak, Iwona, Sulek, Anna, Zdzienicka, Elzbieta, Zieora-Jakutowicz, Karolina, Ferreira, Joaquim J, Coelho, Miguel, Mendes, Tiago, Valadas, Anabela, Andrade, Carlos, Gago, Miguel, Garrett, Carolina, Guerra, Maria Rosália, Herrera, Carmen Durán, Garcia, Patrocinio Moreno, Barbera, Miquel Aguilar, Guia, Dolors Badenes, Hernanz, Laura Casas, Catena, Judit López, Ferrer, Pilar Quiléz, Sebastián, Ana Rojo, Carruesco, Gemma Tome, Bas, Jordi, Busquets, Núria, Calopa, Matilde, Robert, Misericordia Floriach, Viladrich, Celia Mareca, Idiago, Jesús Miguel Ruiz, Riballo, Antonio Villa, Cubo, Esther, Polo, Cecilia Gil, Mariscal, Natividad, Rivadeneyra, Perez Jessica, Barrero, Francisco, Morales, Blas, Fenollar, María, García, Rocío García-Ramos, Ortega, Paloma, Villanueva, Clara, Alegre, Javier, Bascuñana, Mónica, Caldentey, Juan Garcia, Ventura, Marta Fatás, Ribas, Guillermo García, de Yébenes, Justo García, Moreno, José Luis López-Sendón, Frech, Fernando Alonso, Ruíz, Pedro J García, Martínez-Descals, Asunción, Guerrero, Rosa, Artiga, María José Saiz, Sánchez, Vicenta, Perea, María Fuensanta Noguera, Fortuna, Lorenza, Manzanares, Salvadora, Reinante, Gema, Torres, María Martirio Antequera, Moreau, Laura Vivancos, González González, Sonia, Guisasola, Luis Menéndez, Salvador, Carlos, Martín, Esther Suaréz San, Ramirez, Inés Legarda, Gorospe, Aranzazú, Lopera, Mónica Rodriguez, Arques, Penelope Navas, Rodríguez, María José Torres, Pastor, Barbara Vives, Gaston, Itziar, Martinez-Jaurrieta, Maria Dolores, Moreno, Jose Manuel Garcia, Lucena, Carolina Mendez, Damas, Fatima, Cortegana, Hermoso Eva Pacheco, Peña, José Chacón, Redondo, Luis, Carrillo, Fátima, Teresa Cáceres, María, Mir, Pablo, Suarez, María José Lama, Vargas-González, Laura, Bosca, Maria E., Brugada, Francisco Castera, Burguera, Juan Andres, Campos, Anabel, Vilaplana, Garcia Carmen Peiró, Berglund, Peter, Constantinescu, Radu, Fredlund, Gunnel, Høsterey-Ugander, Ulrika, Linnsand, Petra, Neleborn-Lingefjärd, Liselotte, Wentzel, Magnus, Loutfi, Ghada, Olofsson, Carina, Stattin, Eva-Lena, Westman, Laila, Wikström, Birgitta, Stebler, Yanik, Kaelin, Alain, Romero, Irene, Schüpbach, Michael, Weber Zaugg, Sabine, Hauer, Maria, Gonzenbach, Roman, Jung, Hans H., Mihaylova, Violeta, Petersen, Jens, Jack, Roisin, Matheson, Kirsty, Miedzybrodzka, Zosia, Rae, Daniela, Simpson, Sheila A, Summers, Fiona, Ure, Alexandra, Vaughan, Vivien, Akhtar, Shahbana, Crooks, Jenny, Curtis, Adrienne, de Souza, Jenny, Piedad, John, Rickards, Hugh, Wright, Jan, Coulthard, Elizabeth, Gethin, Louise, Hayward, Beverley, Sieradzan, Kasia, Armstrong, Matthew, Barker, Roger A., O'Keefe, Deidre, Di Pietro, Anna, Fisher, Kate, Goodman, Anna, Hill, Susan, Kershaw, Ann, Mason, Sarah, Paterson, Nicole, Raymond, Lucy, Swain, Rachel, Guzman, Natalie Valle, Busse, Monica, Butcher, Cynthia, Clenaghan, Catherine, Hunt, Sarah, Jones, Lesley, Jones, Una, Khalil, Hanan, Owen, Michael, Price, Kathleen, Rosser, Anne, Edwards, Maureen, Ho, Carrie, Hughes, Teresa, McGill, Marie, Pearson, Pauline, Porteous, Mary, Smith, Paul, Brockie, Peter, Foster, Jillian, Johns, Nicola, McKenzie, Sue, Rothery, Jean, Thomas, Gareth, Yates, Shona, Burrows, Liz, Chu, Carol, Fletcher, Amy, Gallantrae, Deena, Hamer, Stephanie, Harding, Alison, Klöppel, Stefan, Kraus, Alison, Laver, Fiona, Lewis, Monica, Longthorpe, Mandy, Markova, Ivana, Raman, Ashok, Robertson, Nicola, Silva, Mark, Thomson, Aileen, Wild, Sue, Yardumian, Pam, Evans, Carole, Gallentrae, Deena, Hobson, Emma, Jamieson, Stuart, Musgrave, Hannah, Rowett, Liz, Toscano, Jean, Bourne, Colin, Clapton, Jackie, Clayton, Carole, Dipple, Heather, Freire-Patino, Dawn, Grant, Janet, Gross, Diana, Hallam, Caroline, Middleton, Julia, Murch, Ann, Thompson, Catherine, Alusi, Sundus, Davies, Rhys, Foy, Kevin, Gerrans, Emily, Pate, Louise, Andrews, Thomasin, Dougherty, Andrew, Golding, Charlotte, Kavalier, Fred, Laing, Hana, Lashwood, Alison, Robertson, Dene, Ruddy, Deborah, Santhouse, Alastair, Whaite, Anna, Bruno, Stefania, Doherty, Karen, Haider, Salman, Hensman, Davina, Lahiri, Nayana, Novak, Marianne, Patel, Aakta, Rosser, Elisabeth, Taylor, Rachel, Warner, Thomas, Wild, Edward, Arran, Natalie, Bek, Judith, Craufurd, David, Hare, Marianne, Howard, Liz, Huson, Susan, Johnson, Liz, Jones, Mary, Murphy, Helen, Oughton, Emma, Partington-Jones, Lucy, Rogers, Dawn, Sollom, Andrea, Snowden, Julie, Stopford, Cheryl, Thompson, Jennifer, Trender-Gerhard, Iris, Verstraelen, Nichola, Westmoreland, Leann, Armstrong, Richard, Dixon, Kathryn, Nemeth, Andrea H, Siuda, Gill, Valentine, Ruth, Harrison, David, Hughes, Max, Parkinson, Andrew, Soltysiak, Beverley, Bandmann, Oliver, Bradbury, Alyson, Gill, Paul, Fairtlough, Helen, Fillingham, Kay, Foustanos, Isabella, Kazoka, Mbombe, O'Donovan, Kirsty, Taylor, Cat, Tidswell, Katherine, Quarrell, Oliver, Lau, Puay Ngoh, Pica, Emmanul, Tan, Louis, Moss, Davina J Hensman, Pardiñas, Antonio F, Langbehn, Douglas, Lo, Kitty, Leavitt, Blair R, Roos, Raymund, Durr, Alexandra, Mead, Simon, Holmans, Peter, and Tabrizi, Sarah J
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- 2017
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17. Dissociation between decision-making under risk and decision-making under ambiguity in premanifest and manifest Huntington's disease
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Adjeroud, Najia, Besnard, Jeremy, Verny, Christophe, Prundean, Adriana, Scherer, Clarisse, Gohier, Bénédicte, Bonneau, Dominique, Massioui, Nicole El, and Allain, Philippe
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- 2017
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18. OPA1-related disorders: Diversity of clinical expression, modes of inheritance and pathophysiology
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Chao de la Barca, Juan Manuel, Prunier-Mirebeau, Delphine, Amati-Bonneau, Patrizia, Ferré, Marc, Sarzi, Emmanuelle, Bris, Céline, Leruez, Stéphanie, Chevrollier, Arnaud, Desquiret-Dumas, Valérie, Gueguen, Naïg, Verny, Christophe, Hamel, Christian, Miléa, Dan, Procaccio, Vincent, Bonneau, Dominique, Lenaers, Guy, and Reynier, Pascal
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- 2016
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19. Assembly defects induce oxidative stress in inherited mitochondrial complex I deficiency
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Leman, Géraldine, Gueguen, Naïg, Desquiret-Dumas, Valérie, Kane, Mariame Selma, Wettervald, Céline, Chupin, Stéphanie, Chevrollier, Arnaud, Lebre, Anne-Sophie, Bonnefont, Jean-Paul, Barth, Magalie, Amati-Bonneau, Patrizia, Verny, Christophe, Henrion, Daniel, Bonneau, Dominique, Reynier, Pascal, and Procaccio, Vincent
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- 2015
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20. Création et application d’une base de données relationnelle pour analyser les corrélations clinico-pathologiques dans les maladies neurodégénératives
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Journe-Mallet, Isabelle, Etcharry-Bouyx, Frédérique, Chauviré, Valérie, Guillet-Pichon, Virginie, Verny, Christophe, Letournel, Franck, and Codron, Philippe
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- 2023
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21. Neurological Diseases Associated with Mutations in the Mitochondrial Fusion Machinery
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Lenaers, Guy, Bonneau, Dominique, Delettre, Cécile, Amati-Bonneau, Patrizia, Sarzi, Emmanuelle, Miléa, Dan, Verny, Christophe, Procaccio, Vincent, Hamel, Christian, Reynier, Pascal, and Lu, Bingwei, editor
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- 2011
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22. Design and application of a customizable relational DataBase to assess clinicopathological correlations and concomitant pathology in neurodegenerative diseases
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Journe‐Mallet, Isabelle, primary, Gouju, Julien, additional, Etcharry‐Bouyx, Frédérique, additional, Chauvire, Valérie, additional, Guillet‐Pichon, Virginie, additional, Scherer‐Gagou, Clarisse, additional, Prundean, Adriana, additional, Godard, Sophie, additional, Lecluse, Aldéric, additional, Cassereau, Julien, additional, Verny, Christophe, additional, Letournel, Franck, additional, and Codron, Philippe, additional
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- 2022
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23. Cyclosporine A does not prevent second-eye involvement in Leber’s hereditary optic neuropathy
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Leruez, Stéphanie, Verny, Christophe, Bonneau, Dominique, Procaccio, Vincent, Lenaers, Guy, Amati-Bonneau, Patrizia, Reynier, Pascal, Scherer, Clarisse, Prundean, Adriana, Orssaud, Christophe, Zanlonghi, Xavier, Rougier, Marie-Bénédicte, Tilikete, Caroline, and Miléa, Dan
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- 2018
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24. H47 Toward understanding caregivers burden determinants and reliefs in Huntington’s disease: a longitudinal clustering analysis of patient/caregiver pairs
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Youssov, Katia, primary, Audureau, Etienne, additional, Vandendriessche, Henri, additional, Morgado, Graça, additional, Layese, Richard, additional, Goizet, Cyril, additional, Verny, Christophe, additional, Bourhis, Marie-Laure, additional, and Bachoud-Lévi, Anne-Catherine, additional
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- 2022
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25. Association between caffeine intake and age at onset in Huntington's disease
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Simonin, Clémence, Duru, Cécile, Salleron, Julia, Hincker, Pascale, Charles, Perrine, Delval, Arnaud, Youssov, Katia, Burnouf, Sylvie, Azulay, Jean-Philippe, Verny, Christophe, Scherer, Clarisse, Tranchant, Christine, Goizet, Cyril, Debruxelles, Sabrina, Defebvre, Luc, Sablonnière, Bernard, Romon-Rousseaux, Monique, Buée, Luc, Destée, Alain, Godefroy, Olivier, Dürr, Alexandra, Landwehrmeyer, Bernhard, Bachoud-Levi, Anne-Catherine, Richard, Florence, Blum, David, and Krystkowiak, Pierre
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- 2013
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26. Therapeutic plasma exchange in chronic dysimmune peripheral neuropathies: A 10‐year retrospective study
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Codron, Philippe, Cousin, Maud, Subra, Jean‐François, Pautot, Vivien, Letournel, Franck, Verny, Christophe, and Cassereau, Julien
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- 2017
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27. Association Between Motor Symptoms and Brain Metabolism in Early Huntington Disease
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Gaura, Véronique, Lavisse, Sonia, Payoux, Pierre, Goldman, Serge, Verny, Christophe, Krystkowiak, Pierre, Damier, Philippe, Supiot, Frédéric, Bachoud-Levi, Anne-Catherine, and Remy, Philippe
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- 2017
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28. Design and application of a customizable relational DataBase to assess clinicopathological correlations and concomitant pathology in neurodegenerative diseases.
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Journe‐Mallet, Isabelle, Gouju, Julien, Etcharry‐Bouyx, Frédérique, Chauvire, Valérie, Guillet‐Pichon, Virginie, Scherer‐Gagou, Clarisse, Prundean, Adriana, Godard, Sophie, Lecluse, Aldéric, Cassereau, Julien, Verny, Christophe, Letournel, Franck, and Codron, Philippe
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PATHOLOGY ,NEURODEGENERATION ,LEWY body dementia ,RELATIONAL databases ,CLINICAL pathology ,PRION diseases - Abstract
The diagnosis of neurodegenerative diseases is made complex by the heterogenous phenotype of the patients and the regular occurrence of concomitant pathology. Studying clinicopathological correlations in autopsy series is a central approach to improve pathological prediction in clinical practice. However, such method requires a wealth of information, and the use of standard spreadsheet software is hardly suitable. To overcome this constraint, we designed a customizable and freely available neuropathology form with 456 data entry fields driven by an open‐source DataBase Management Systems (DBMS) using Structured Query Language (SQL). This approach allowed us to optimize the compilation of clinical and pathological data from our brain collection (264 autopsied patients, 22,885 data points). Information was then easily retrieved using general and specific queries, facilitating the analysis of demographics, clinicopathological correlations, and incidental and concomitant proteinopathies. Tau, amyloid‐β and α‐synuclein incidental pathology was observed in respectively 78.1%, 42.8%, and 10.7% of all the patients. These proportions increased with age, reaching 100% for Tau pathology after 80. Concomitant proteinopathy was observed in 46.4% of the patients diagnosed with neurodegenerative diseases and prion disease. We observed a particularly high rate of co‐pathology in patients with Dementia with Lewy bodies (81.3% of associated Tau and amyloid‐β pathology) and Creutzfeldt–Jakob disease (68.4% of associated Tau pathology). Finally, we used specific queries to identify old cases that could meet newly defined neuropathological criteria and revised the diagnosis of a 90‐year‐old patient to LATE Stage 2. Increasing our understanding of clinicopathological correlations in neurodegenerative diseases is crucial given the implications in clinical diagnosis, biomarker identification and targeted therapies assessment. The precise characterization of clinical and pathological data of autopsy series remains a central approach but the large amount of generated data should encourage a more systematic use of DBMS. [ABSTRACT FROM AUTHOR]
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- 2023
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29. Diagnostic d’un syndrome de Joubert de type 9 chez 2 patients de 58 et 56 ans grâce à l’exome
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Weber, Sacha, primary, Guillet-Pichon, Virginie, additional, Ziegler, Alban, additional, Bonneau, Dominique, additional, and Verny, Christophe, additional
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- 2022
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30. Intrication entre atrophie optique de Leber et sclérose en plaques : case report et revue de la littérature
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Bureau, Jacques, primary, Scherer-Gagou, Clarisse, additional, Leruez, Stéphanie, additional, Codron, Philippe, additional, and Verny, Christophe, additional
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- 2022
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31. Apathy and Huntington’s Disease: A Literature Review Based on PRISMA
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Matmati, Jihene, primary, Verny, Christophe, additional, and Allain, Philippe, additional
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- 2022
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32. Intérêt et apport de l’exome dans le diagnostic et la prise en charge des maladies neurogénétiques de l’adulte
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Weber, Sacha, primary, Guillet-Pichon, Virginie, additional, Ziegler, Alban, additional, Bonneau, Dominique, additional, and Verny, Christophe, additional
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- 2022
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33. Human Fetal Cell Therapy in Huntington's Disease: A Randomized, Multicenter, Phase <scp>II</scp> Trial
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Bachoud-Lévi, Anne-Catherine, Schramm, Catherine, Remy, Philippe, Aubin, Ghislaine, Blond, Serge, Bocket, Laurence, Brugières, Pierre, Calvas, Fabienne, Calvier, Elisabeth, Cassim, François, Challine, Dominique, Gagou, Clarisse Scherer, De Langavant, Laurent Cleret, Collier, Francis, Cottencin, Olivier, David, Philippe, Damier, Philippe, Delliaux, Marie, Delmaire, Christine, Delval, Arnaud, Démonet, Jean‐François, Descamps, Philippe, Gaura, Véronique, Gohier, Bénédicte, Goldman, Serge, Haddad, Bassam, Izopet, Jacques, Jeny, Roland, Kerr-Conte, Julie, Krystowiak, Pierre, Lalanne, Christophe, Lavisse, Sonia, Lefaucheur, Jean‐Pascal, Lemoine, Laurie, Levivier, Marc, Lotterie, Jean‐Albert, Lunel‐Fabiani, Françoise, Maison, Patrick, Massager, Nicolas, Massart, Renaud, Menei, Philippe, Montero‐Menei, Claudia, Neveu, Isabelle, Parant, Olivier, Pautot, Vivien, Payoux, Pierre, Péréon, Yann, Rialland, Amandine, Rosser, Anne, Rouard, Hélène HR, Schmitz, David, Simonetta‐Moreau, Marion, Simonin, Clémence, Slama, Hichem, Sol, Jean‐Christophe, Supiot, Frédéric, Tanguy, Jean‐Yves, Tenenbaum, Liliane, Verny, Christophe, Youssov, Katia, Peschanski, Marc, Audureau, Etienne, Palfi, Stéphane, Hantraye, Philippe, Centre de référence maladie de Huntington, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), IMRB - 'NeuroPsychologie Interventionnelle' [Créteil] (U955 Inserm - UPEC), Institut Mondor de Recherche Biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)-Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Université Paris sciences et lettres (PSL), Université Paris-Est Créteil Val-de-Marne - Faculté de médecine (UPEC Médecine), Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), AOM00139 and AOM04021 Direction de la Recherche Clinique, Association Française contre les Myopathies., Collaborators : on behalf the Multicentric Intracerebral Grafting in Huntington's Disease Group : Catherine Schramm, Philippe Remy, Ghislaine Aubin, Serge Blond, Laurence Bocket, Pierre Brugières, Fabienne Calvas, Elisabeth Calvier, François Cassim, Dominique Challine, Clarisse Scherer Gagou, Laurent Cleret de Langavant, Francis Collier, Olivier Cottencin, Philippe David, Philippe Damier, Marie Delliaux, Christine Delmaire, Arnaud Delval, Jean-François Démonet, Philippe Descamps, Véronique Gaura, Bénédicte Gohier, Serge Goldman, Bassam Haddad, Jacques Izopet, Roland Jeny, Julie Kerr-Conte, Pierre Krystowiak, Christophe Lalanne, Sonia Lavisse, Jean-Pascal Lefaucheur, Laurie Lemoine, Marc Levivier, Jean-Albert Lotterie, Françoise Lunel-Fabiani, Patrick Maison, Nicolas Massager, Renaud Massart, Philippe Menei, Claudia Montero-Menei, Isabelle Neveu, Olivier Parant, Vivien Pautot, Pierre Payoux, Yann Pereon, Amandine Rialland, Anne Rosser, Hélène Rouard, David Schmitz, Marion Simonetta-Moreau, Clémence Simonin, Hichem Slama, Jean-Christophe Sol, Frédéric Supiot, Jean-Yves Tanguy, Liliane Tenenbaum, Christophe Verny, Katia Youssov, Marc Peschanski, Etienne Audureau, Stéphane Palfi, Philippe Hantraye., and Montero-Menei, claudia
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0301 basic medicine ,medicine.medical_specialty ,Neurology ,Huntington s disease ,MIG-' HD ,Cell- and Tissue-Based Therapy ,[SDV.BC]Life Sciences [q-bio]/Cellular Biology ,Disease ,law.invention ,03 medical and health sciences ,0302 clinical medicine ,Huntington's disease ,Randomized controlled trial ,law ,Internal medicine ,medicine ,Humans ,Stage (cooking) ,Adverse effect ,[SDV.BC] Life Sciences [q-bio]/Cellular Biology ,business.industry ,phase 2 trial ,Neurodegenerative Diseases ,Sciences bio-médicales et agricoles ,medicine.disease ,Confidence interval ,Transplantation ,Huntington Disease ,030104 developmental biology ,Neurology (clinical) ,cell therapy ,business ,030217 neurology & neurosurgery - Abstract
Background\ud Huntington's disease is a rare, severe, inherited neurodegenerative disease in which we assessed the safety and efficacy of grafting human fetal ganglionic eminence intrastriatally.\ud \ud Methods\ud Patients at the early stage of the disease were enrolled in the Multicentric Intracerebral Grafting in Huntington's Disease trial, a delayed‐start phase II randomized study. After a run‐in period of 12 months, patients were randomized at month 12 to either the treatment group (transplanted at month 13–month 14) or the control group and secondarily treated 20 months later (month 33–month 34). The primary outcome was total motor score compared between both groups 20 months postrandomization (month 32). Secondary outcomes included clinical, imaging, and electrophysiological findings and a comparison of pregraft and postgraft total motor score slopes during the entire study period (month 0–month 52) regardless of the time of transplant.\ud \ud Results\ud Of 54 randomized patients, 45 were transplanted; 26 immediately (treatment) and 19 delayed (control). Mean total motor score at month 32 did not differ between groups (treated controls difference in means adjusted for M12: +2.9 [95% confidence interval, −2.8 to 8.6]; P = 0.31). Its rate of decline after transplantation was similar to that before transplantation. A total of 27 severe adverse events were recorded in the randomized patients, 10 of which were related to the transplant procedure. Improvement of procedures during the trial significantly decreased the frequency of surgical events.We found antihuman leucocytes antigen antibodies in 40% of the patients.\ud \ud Conclusion\ud No clinical benefit was found in this trial. This may have been related to graft rejection. Ectopia and high track number negatively influence the graft outcome. Procedural adjustments substantially improved surgical safety. (ClinicalTrials.gov NCT00190450.) © 2020 International Parkinson and Movement Disorder Society
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- 2020
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34. The neural substrates of script knowledge deficits as revealed by a PET study in Huntington's disease
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Allain, Philippe, Gaura, Véronique, Fasotti, Luciano, Chauviré, Valérie, Prundean, Adriana, Sherer-Gagou, Clarisse, Bonneau, Dominique, Bachoud-Levi, Anne-Catherine, Dubas, Frédéric, Remy, Philippe, Le Gall, Didier, and Verny, Christophe
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- 2011
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35. Hereditary spastic paraplegia-like disorder due to a mitochondrial ATP6 gene point mutation
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Verny, Christophe, Guegen, Naig, Desquiret, Valerie, Chevrollier, Arnaud, Prundean, Adriana, Dubas, Frederic, Cassereau, Julien, Ferre, Marc, Amati-Bonneau, Patrizia, Bonneau, Dominique, Reynier, Pascal, and Procaccio, Vincent
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- 2011
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36. Mitochondrial dysfunction and pathophysiology of Charcot–Marie–Tooth disease involving GDAP1 mutations
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Cassereau, Julien, Chevrollier, Arnaud, Gueguen, Naïg, Desquiret, Valérie, Verny, Christophe, Nicolas, Guillaume, Dubas, Frédéric, Amati-Bonneau, Patrizia, Reynier, Pascal, Bonneau, Dominique, and Procaccio, Vincent
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- 2011
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37. Theory of mind and empathy in preclinical and clinical Huntington’s disease
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Adjeroud, Najia, Besnard, Jérémy, Massioui, Nicole El, Verny, Christophe, Prudean, Adriana, Scherer, Clarisse, Gohier, Bénédicte, Bonneau, Dominique, and Allain, Philippe
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- 2016
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38. The top 10 most frequently involved genes in hereditary optic neuropathies in 2186 probands.
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Rocatcher, Aude, Desquiret-Dumas, Valérie, Charif, Majida, Ferré, Marc, Gohier, Philippe, Mirebeau-Prunier, Delphine, Verny, Christophe, Milea, Dan, Lenaers, Guy, Group, HON Collaborators, Bonneau, Dominique, Reynier, Pascal, Amati-Bonneau, Patrizia, and HON Collaborators Group
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OPTIC nerve injuries ,LEBER'S hereditary optic atrophy ,RECESSIVE genes ,RETINAL ganglion cells ,MITOCHONDRIAL DNA ,GENES ,OPTIC nerve - Abstract
Hereditary optic neuropathies are caused by the degeneration of retinal ganglion cells whose axons form the optic nerves, with a consistent genetic heterogeneity. As part of our diagnostic activity, we retrospectively evaluated the combination of Leber hereditary optic neuropathy mutations testing with the exon sequencing of 87 nuclear genes on 2,186 patients referred for suspected hereditary optic neuropathies. The positive diagnosis rate in individuals referred for Leber hereditary optic neuropathy testing was 18% (199/1,126 index cases), with 92% (184/199) carrying one of the three main pathogenic variants of mitochondrial DNA (m.11778G > A, 66.5%; m.3460G > A, 15% and m.14484T > C, 11%). The positive diagnosis rate in individuals referred for autosomal dominant or recessive optic neuropathies was 27% (451/1,680 index cases), with 10 genes accounting together for 96% of this cohort. This represents an overall positive diagnostic rate of 30%. The identified top 10 nuclear genes included OPA1, WFS1, ACO2, SPG7, MFN2, AFG3L2, RTN4IP1, TMEM126A, NR2F1 and FDXR. Eleven additional genes, each accounting for less than 1% of cases, were identified in 17 individuals. Our results show that 10 major genes account for more than 96% of the cases diagnosed with our nuclear gene panel. [ABSTRACT FROM AUTHOR]
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- 2023
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39. Ethambutol-induced optic neuropathy linked to OPA1 mutation and mitochondrial toxicity
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Guillet, Virginie, Chevrollier, Arnaud, Cassereau, Julien, Letournel, Franck, Gueguen, Naïg, Richard, Laurence, Desquiret, Valérie, Verny, Christophe, Procaccio, Vincent, Amati-Bonneau, Patrizia, Reynier, Pascal, and Bonneau, Dominique
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- 2010
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40. Correction: Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment
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Roux, Thomas, primary, Barbier, Mathieu, additional, Papin, Mélanie, additional, Davoine, Claire-Sophie, additional, Sayah, Sabrina, additional, Coarelli, Giulia, additional, Charles, Perrine, additional, Marelli, Cecilia, additional, Parodi, Livia, additional, Tranchant, Christine, additional, Goizet, Cyril, additional, Klebe, Stephan, additional, Lohmann, Ebba, additional, Van Maldergem, Lionel, additional, van Broeckhoven, Christine, additional, Coutelier, Marie, additional, Tesson, Christelle, additional, Stevanin, Giovanni, additional, Duyckaerts, Charles, additional, Brice, Alexis, additional, Durr, Alexandra, additional, Darios, Frédéric, additional, Forlani, Sylvie, additional, Site, Pitié-Salpêtrière, additional, Banneau, Guillaume, additional, Cazeneuve, Cécile, additional, Fontaine, Bertrand, additional, Azulay, Jean-Philippe, additional, Boesfplug-Tanguy, Odile, additional, Hannequin, Didier, additional, Hazan, Jamilé, additional, Burgo, Andrea, additional, Verny, Christophe, additional, Koenig, Michel, additional, Labauge, Pierre, additional, N’guyen, Karine, additional, Rodriguez, Diana, additional, Belarbi, Soraya, additional, Hamri, Abdelmadjid, additional, Tazir, Meriem, additional, Boesch, Sylvia, additional, Pandolfo, Massimo, additional, Laura, Jardim, additional, Guergueltcheva, Velina, additional, Tournev, Ivalo, additional, Pedraza Linarès, Olga Lucia, additional, Nielsen, Jørgen E., additional, Svenstrup, Kirsten, additional, Zaki, Maha, additional, Bauer, Peter, additional, Schöls, Lüdger, additional, Schüle, Rebecca, additional, Lossos, Alexander, additional, Bassi, Maria-Teresa, additional, Basso, Manuela, additional, Bertini, Enrico, additional, Brusco, Alfredo, additional, Casali, Carlo, additional, Casari, Giorgio, additional, Criscuolo, Chiara, additional, Filla, Alessandro, additional, Orsi, Laura, additional, Santorelli, Filippo M., additional, Valente, Enza Maria, additional, Vavla, Marinela, additional, Vazza, Giovanni, additional, Megarbane, André, additional, Benomar, Ali, additional, Kremer, Berry, additional, Van Roon-Mom, Willeke, additional, Roxburgh, Richard, additional, Erichsen, Anne Kjersti, additional, Tallaksen, Chantal, additional, Alonso, Isabel, additional, Coutinho, Paula, additional, Loureiro, José Léal, additional, Sequeiros, Jorge, additional, Salih, Mustapha, additional, Kostic, Vladimir S, additional, Rouco Axpe, Idoia, additional, Elsayed, Liena, additional, Paucar, Martin Arce, additional, Roumani, Samir, additional, Bing-Wen, Soong, additional, Reid, Evan, additional, Suran, Nethisinghe, additional, Warner, Thomas, additional, and Wood, Nicholas, additional
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- 2021
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41. Clinical and genetic characteristics of late-onset Huntington's disease
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Oosterloo, Mayke, Bijlsma, Emilia K., van Kuijk, Sander MJ., Minkels, Floor, de Die-Smulders, Christine EM., Bachoud-Lévi, Anne-Catherine, Bentivoglio, Anna-Rita, Biunno, Ida, Bonelli, Raphael M., Bronzova, Juliana, Burgunder, Jean-Marc, Dunnett, Stephen B., Ferreira, Joaquim J., Frich, Jan, Giuliano, Joe, Handley, Olivia J., Heiberg, Arvid, Illarioshkin, Sergey, Illmann, Torsten, Klempir, Jiri, Landwehrmeyer, G. Bernhard, Levey, Jamie, Mclean, Tim, Nielsen, Jørgen E., Koivisto, Susana Pro, Päivärinta, Markku, Pålhagen, Sven, Quarrell, Oliver, Ramos-Arroyo, Maria, Roos, Raymund A. C., Saft, Carsten, Sebastián, Ana Rojo, Tabrizi, Sarah J., Vandenberghe, Wim, Verellen-Dumoulin, Christine, Uhrova, Tereza, Wahlström+, Jan, Zaremba, Jacek (formerly Rödig, Verena, Baake, Barth, Katrin, Garde, Monica Bascuñana, Becanovic, Kristina, Bernard, Tomáš, Betz, Sabrina, Bos, Reineke, Come, Adrien, Guedes, Leonor Correia, Callaghan, Jenny, Capodarca, Selene, Charpentier, Sébastien, Vieira da Silva, Wildson, Di Renzo, Martina, Ecker, Daniel, Finisterra, Ana Maria, Fullam, Ruth, Genoves, Camille, Gilling, Mette, Horta, Andrea, Hvalstedt, Carina, Held, Christine, Hussain, Hasina, Koppers, Kerstin, Lamanna, Claudia, Laurà, Matilde, Descals, Asunción Martínez, Martinez-Horta, Saul, Mestre, Tiago, Minster, Sara, Monza, Daniela, Münkel, Kristina, Mütze, Lisanne, Oehmen, Martin, Padieu, Helene, Paterski, Laurent, Peppa, Nadia, Rindal, Beate, Rogers, Dawn, Røren (formerly Heinonen), Niini, Salgueiro, Ana, Šašinková, Pavla, Seliverstov, Yury, Taylor, Catherine, Timewell, Erika, Townhill, Jenny, Cubillo, Patricia Trigo, van Walsem, Marleen R., Witjes-Ané, Marie-Noelle, Witkowski, Grzegorz, Wright, Abigail, Yudina, Elizaveta, Zielonka, Daniel, Zielonka, Eugeniusz, Zinzi, Paola, Hecht, Karen, Herranhof, Brigitte, Holl (formerly Hödl), Anna, Kapfhammer, Hans-Peter, Koppitz, Michael, Lilek, Sabine, Magnet, Markus, Müller, Nicole, Otti, Daniela, Painold, Annamaria, Reisinger, Karin, Scheibl, Monika, Schöggl, Helmut, Ullah, Jasmin, Braunwarth, Eva-Maria, Brugger, Florian, Buratti, Lisa, Hametner, Eva-Maria, Hepperger, Caroline, Holas, Christiane, Hotter, Anna, Hussl, Anna, Larcher, Barbara, Mahlknecht, Philipp, Müller, Christoph, Pinter, Bernadette, Poewe, Werner, Reiter, Eva-Magdalena, Seppi, Klaus, Sprenger, Fabienne, Wenning, Gregor, Ladurner, Gunther, Lilek, Stefan, Sinadinosa, Daniela, Staffen, Wolfgang, Walleczek, Anna Maria, Linder, Christoph, Pirker, Walter, Liessens, Dirk, Calmeyn, Godelinde, Somers, Nele, Delvaux, Isabelle, Boogaerts, Andrea, Flamez, Anja, de Raedt, Sylvie, Alaerts, Nick, Slama, Hichem, Supiot, Frédéric, Constant, Eric, Gillardin, Anne-Françoise, Léonard, Marie-Claude, van de Wyngaerde, Françoise, Dupuis, Michel, Minet, Cécile, Ribaï, Pascale, Van Paemel, Dominique, van Reijen, Dimphna, Weckx, Petra, Kaiserova, Michaela, Šenkárová, Zuzana, Bezdíček, Ondřej, Klempíř, Jiří, Klempířová, Olga, Majerová-Ibarburu, Veronika, Nikolai, Tomáš, Roth, Jan, Stárková, Irena, Madsen, Louise Hasselstrøm, Møller, Anette Torvin, Hjermind, Lena, Jacobsen, Oda, Larsen, Ida Unmack, Lindquist, Suzanne, Nielsen, Jørgen, Regeur, Lisbeth, Roos, Peter, Stockholm, Jette, Vangsted-Hansen, Christina, Vinther-Jensen, Tua, Lolk, Annette, Lundsgaard, Marianne, Wermuth, Lene, Andersson, Christian, Nyberg, Clara, Sundblom, Jimmy, Peippo, Maarit, Sipponen, Marjatta, Bruun, Anu, Hartikainen, Paivi, Mäkipää, Seija, Ollokainen, Mari, Åman, Jaana, Kärppä, Mikko, Ignatius, Jaakko, Jääskeläinen, Outi, Kajula, Outi, Moilanen, Jukka, Mustonen, Aki, Santala, Maire, Eklund, Pia, Hiivola, Heli, Hyppönen, Hannele, Martikainen, Kirsti, Ojala, Marjut, Tähkäpää, Sirkku, Tuuha, Katri, Allain, Philippe, Bonneau, Dominique, Bost, Marie, Gohier, Bénédicte, Guérid, Marie-Anne, Olivier, Audrey, Prouzet, Julie, Prundean, Adriana, Scherer-Gagou, Clarisse, Verny, Christophe, Babiloni, Blandine, Bled, Déborah, Debruxelles, Sabrina, Duché, Charlotte, Fraisse, Sonia, Goizet, Cyril, Jameau, Laetitia, Lafoucrière, Danielle, Spampinato, Umberto, Couttier, Julien, Debilly, Bérengère, Delaigue, Christine, Derost, Philippe, Durif, Franck, Germain, Véronique, Legendre, Perrine, Loiseau, Sylvie, Marques, Ana, Ulla, Miguel, Vidal, Tiphaine, Badei, Farideh, Boissé, Marie-Françoise, Boudali, Lotfi, Cleret de Langavant, Laurent, Lemoine, Laurie, Morgado, Graca, Youssov, Katia, Annic, Agnès, Barthélémy, Recka, De Bruycker, Christelle, Cabaret, Maryline, Carette, Anne-Sophie, Carrière, Nicolas, Decorte, Eric, Defebvre, Luc, Delliaux, Marie, Delval, Arnaud, Depelchin, Alizé, Destee, Alain, Dewulf-Pasz, Nelly, Dondaine, Thibaut, Dugauquier, Florence, Dujardin, Kathy, Hopes, Lucie, Krystkowiak, Pierre, Lemaire, Marie-Hélène, Manouvrier, Sylvie, Mutez, Eugénie, Peter, Mireille, Plomhause, Lucie, Sablonnière, Bernard, Simonin, Clémence, Tard, Céline, Thibault-Tanchou, Stéphanie, Vuillaume, Isabelle, Bellonet, Marcellin, Blin, Stéphanie, Chen, Simone, Masmoudi, Kamel, Morin, Gilles, Roussel, Martine, Tir, Mélissa, Schüler, Béatrice, Wannepain, Sandrine, Zouitina, Yassine, Azulay, Jean-Philippe, Delfini, Marie, Eusebio, Alexandre, Fluchere, Frédérique, Guenam, Aicha, Mundler, Laura, Nguyen, Karine, Benaich, Sandra, Brice, Alexis, Boster, Sarah, Charles, Perrine, Durr, Alexandra, Ewenczyk, Claire, Francisque, Hélène, Jauffret, Céline, Justo, Damian, Kassar, Abdulrahman, Klebe, Stephan, Lesne, Fabien, Milani, Paolo, Monin, Marie-Lorraine, Monnier, Tiffany, Roze, Emmanuel, Tataru, Alina, Tchikviladzé, Maya, Bioux, Sandrine, Bliaux, Evangeline, Girard, Carole, Guyant-Maréchal, Lucie, Hannequin, Didier, Hannier, Véronique, Jourdain, Séverine, Maltête, David, Pouliquen, Dorothée, Anheim, Mathieu, Barun, Nadia, Lagha-Boukbiza, Ouhaid, Longato, Nadine, Marcel, Christophe, Phillipps, Clélie, Rudolf, Gabrielle, Steinmetz, Gisèle, Tranchant, Christine, Wagner, Caroline, Zimmermann, Marie-Agathe, Blondeau, Leily, Calvas, Fabienne, Cheriet, Samia, Delabaere, Helène, Demonet, Jean-François, Marquine, Laurent, Pariente, Jérémie, Pierre, Michèle, Pomies, Elsa, Rolland, Sandrine, Souyris, Corinne, Kosinski, Christoph Michael, Milkereit, Eva, Probst, Daniela, Reetz, Kathrin, Sass, Christian, Schiefer, Johannes, Schlangen, Christiane, Werner, Cornelius J., Beuth, Markus, Gelderblom, Harald, Priller, Josef, Prüß, Harald, Spruth, Eike, Thiel, Silvia, Andrich, Jürgen, Ellrichmann, Gisa, Herrmann, Lennard, Hoffmann, Rainer, Kaminski, Barbara, Kraus, Peter, Stamm, Christiane, Ganos, Christos, Stubbe, Lars, Tadic, Vera, Tübing, Jennifer, Lange, Herwig, Bosredon, Cecile, Hunger, Ulrike, Löhle, Matthias, Maass, Antonia, Ossig, Christiana, Schmidt, Simone, Storch, Alexander, Wolz, Annett, Wolz, Martin, Kohl, Zacharias, Kozay, Christina, Winkler, Jürgen, Bergmann, Ulrike, Böringer, Regina, Capetian, Philipp, Kammel, Gerit, Lambeck, Johann, Mächtel, Miriam, Meier, Simone, Rijntjes, Michel, Zucker, Birgit, Boelmans, Kai, Goerendt, Ines, Heinicke, Walburgis, Hidding, Ute, Lewerenz, Jan, Münchau, Alexander, Orth, Michael, Schmalfeld, Jenny, Zittel, Simone, Diercks, Gabriele, Dressler, Dirk, Francis, Flverly, Gayde-Stephan, Sabine, Gorzolla, Heike, Kramer, Bianca, Minschke, Rebecca, Schrader, Christoph, Tacik, Pawel, Ribbat+, Michael, Longinus, Bernhard, Möller, Carsten, Bürk, Katrin, Lüsebrink, Antje, Mühlau, Mark, Peinemann, Alexander, Städtler, Michael, Weindl, Adolf, Winkelmann, Juliane, Ziegler, Cornelia, Bechtel, Natalie, Beckmann, Heike, Bohlen, Stefan, Göpfert, Nicole, Hölzner, Eva, Reilmann, Ralf, Rohm, Stefanie, Rumpf, Silke, Schepers, Sigrun, Weber, Nathalia, Bachmeier, Michael, Dose, Matthias, Hofstetter, Nina, Marquard, Ralf, Mühlbäck, Alzbeta, Buck, Andrea, Connemann, Julia, Geitner, Carolin, Kesse, Andrea, Landwehrmeyer, Bernhard, Lezius, Franziska, Nepper, Solveig, Niess, Anke, Schneider, Ariane, Schwenk, Daniela, Süssmuth, Sigurd, Trautmann, Sonja, Vogel, Melanie, Weydt, Patrick, Musacchio, Thomas, Leypold, Christine, Nöth, Kerstin, Cormio, Claudia, Difruscolo, Olimpia, Franco, Giovanni, Nuzzi, Angela, Sciruicchio, Vittorio, Serpino, Claudia, de Tommaso, Marina, Calandra-Buonaura, Giovanna, Capellari, Sabina, Cortelli, Pietro, Gallassi, Roberto, Poda, Roberto, Scaglione, Cesa, Agosti, Chiara, Barlati, Sergio, Compostella, Silvia, Marchina, Eleonora, Padovani, Alessando, Figorilli, Michela, Marrosu, Francesco, Muroni, Antonella, Piras, Valeria, Vacca, Melisa, Bertini, Elisabetta, Bartoli, Caterina, Fortunato, Fernanda, Ghelli, Elena, Ginestroni, Andrea, Mechi, Claudia, Paganini, Marco, Piacentini, Silvia, Pradella, Silvia, Romoli, Anna Maria, Sorbi, Sandro, Abbruzzese, Giovanni, Bandettini di Poggio, Monica, Ferrandes, Giovanna, Mandich, Paola, Marchese, Roberta, Di Maria, Emilio, Tamburini, Tiziano, Albanese, Alberto, Castagliuolo, Simona, Castaldo, Anna, Di Donato, Stefano, Di Bella, Daniela, Gellera, Cinzia, Genitrini, Silvia, Mariotti, Caterina, Nanetti, Lorenzo, Panzeri, Marta, Paridi, Dominga, Soliveri, Paola, Spagnolo, Francesca, Taroni, Franco, Tomasello, Chiara, De Michele, Giuseppe, Di Maio, Luigi, Rinaldi, Carlo, Massarelli, Marco, Peluso, Silvio, Roca, Alessandro, Russo, Cinzia Valeria, Salvatore, Elena, Sorrentino, Pierpaolo, Tucci, Tecla, Cannella, Milena, Codella, Valentina, De Gregorio, Francesca, De Nicola, Annunziata, Elifani, Francesca, Esposito, Chiara, Martino, Tiziana, Mazzante, Irene, Petrollini, Martina, Simonelli, Maria, Vezza, Maurizio, Squitieri, Ferdinando, D'Alessio, Barbara, Lovo, Francesca, Bentivoglio, Anna Rita, Bove, Francesco, Catalli, Claudio, Di Giacopo, Raffaella, Fasano, Alfonso, Frontali, Marina, Guidubaldi, Arianna, Ialongo, Tamara, Jacopini, Gioia, Loria, Giovanna, Modoni, Anna, Petracca, Martina, Piano, Carla, Chiara, Piccininni, Quaranta, Davide, Romano, Silvia, Soleti, Francesco, Solito, Marcella, Spadaro, Maria, Torlizzi, Flavia, Coarelli, Giulia, Ferraldeschi, Michela, Ristori, Giovanni, van Hout, Monique S. E., van Vugt, Jeroen P. P., Marit de Weert, A., Verhoeven, Marloes, Dekker, Meike, Klooster, Jesper, Leenders, Nico, van Oostrom, Joost, Kremer, Berry, Baake, Verena, van den Bogaard, Simon J. A., Dumas, Eve M., t Hart, Ellen P., Hogenboom, Marye, Jacobs, Milou, Jurgens, Caroline, Kampstra, Anne, Schoonderbeek, Anne, Witjes-Ané, Marie-Noëlle, Duits, Annelien, Waber, Mirella, Verstappen, Carla, Blinkenberg, Ellen Økland, Hauge, Erik, Tyvoll, Hilde, Aaserud, Olaf, Aanonsen, Nils Olaf, Bjørgo, Kathrine, Borgerød, Nancy, Dramstad, Elisabeth, Fannemel, Madeleine, Frich, Jan C., Gørvell, Per F., Haggag, Kathrine, Johannessen, Cecilie Haggag, Retterstøl, Lars, Røsby, Oddveig, Rummel, Jutta, Sikiric, Alma, Stokke, Bodil, van Walsem, Marleen, Wehus, Ragnhild, Arntsen, Vibeke, Bjørnevoll, Inga, Sando, Sigrid Botne, Haug, Marte Gjøl, Størseth, Hanna Haugan, Østern, Rune, Paulsen, Julie, Dziadkiewicz, Artur, Konkel, Agnieszka, Narożańska, Ewa, Nowak, Malgorzata, Robowski, Piotr, Sitek, Emilia, Slawek, Jaroslaw, Soltan, Witold, Szinwelski, Michal, Arkuszewski, Michał, Błaszczyk, Magdalena, Boczarska-Jedynak, Magdalena, Ciach-Wysocka, Ewelina, Gorzkowska, Agnieszka, Jasińska-Myga, Barbara, Kaczmarczyk, Aleksandra, Kłodowska – Duda, Gabriela, Opala, Grzegorz, Rudzińska, Monika, Stompel, Daniel, Banaszkiewicz, Krzysztof, Boćwińska, Dorota, Bojakowska-Jaremek, Kamila, Dec, Małgorzata, Grabska, Natalia, Krawczyk, Malgorzata, Kubowicz, Ewelina, Malec-Litwinowicz, Michalina, Stenwak, Agata, Szczudlik, Andrzej, Szczygieł, Elżbieta, Wójcik, Magdalena, Wasielewska, Anna, Anna Bryl, Jacek Anioła, Ciesielska, Anna, Klimberg, Aneta, Marcinkowski, Jerzy, Samara, Husam, Sempołowicz, Justyna, Wiśniewski, Bartłomiej, Gogol (formerly Kalbarczyk), Anna, Janik, Piotr, Jamrozik, Zygmunt, Kaminska, Anna, Kwiecinski+, Hubert, Antczak, Jakub, Jachinska, Katarzyna, Krysa, Wioletta, Rakowicz, Maryla, Rola, Rafal, Ryglewicz, Danuta, Sienkiewicz-Jarosz, Halina, Stępniak, Iwona, Sułek, Anna, Zaremba, Jacek, Zdzienicka, Elzbieta, Ziora-Jakutowicz, Karolina, Januário, Cristina, Júlio, Filipa, Almeida, Manuel, Calado, Ana, Dias, Margarida, Morgado, Joana, Semedo, Cristina, Coelho, Miguel, Magalhães, Andreia, Mendes, Tiago, Neutel, Dulce, Rodrigues, Filipe, Valadas, Anabela, Costa, Cristina, Cardoso, Helena, Santos, Mariana, Cação, Gonçalo, Cavaco, Sara, Damásio, Joana, Fernandes, Joana, Gonçalves, Alexandra, Loureiro, Rui, Moreira, Inês, Magalhães, Marina, Salgado, Paula, Andrade, Carlos, Costa, Andreia, Garrett, Carolina, Gago, Miguel, Guimarães, Joana, Massano, João, Meireles, Joana, Monteiro, Ana, Khasanova, Diana, Zalyalova, Zuleykha, Klyushnikov, Sergey, Sidorova, Olga, Smirnov, Oleg, Antonova, Victoria, Kopishinskaya, Svetlana, Korotysh, Maria, Magzhanov, Rim, Saifullina, Elena, Kurbatov, Sergey, Solis, Pilar, Herrera, Carmen Durán, Moreno, Patrocinio Garcia, Bas, Jordi, Busquets, Núria, Calopa, Matilde, Classen, Serge Jaumà, Dedichá, Nadia Rodríguez, Buongiorno, María Teresa, María, Andrés de la Cerda Santa, Muñoz, Esteban, Santacruz, Pilar, Barbera, Miquel Aguilar, Pardo, Sonia Arribas, Guia, Dolors Badenes, Calzado, Noemi, Hernanz, Laura Casas, Tartari Díaz-Zorita, Juan Pablo, Catena, Judit López, Ferrer, Pilar Quiléz, Carruesco, Gemma Tome, Robert, Misericordia Floriach, Viladrich, Cèlia Mareca, Roca, Elvira, Ruiz Idiago, Jesús Miguel, Riballo, Antonio Villa, Campolongo, Antonia, Fernandez de Bobadilla, Ramon, Bojarsky, Jaime Kulisevsky, Pagonabarraga, Javier, Perez, Jesus Perez, Ribosa, Roser, Villa, Carolina, Acera Gil, Maria Angeles, Corrales, Koldo Berganzo, Gomez Esteban, Juan Carlos, González, Amaia, Merino, Beatriz Tijero, Cubo, Esther, Polo, Cecilia Gil, Mariscal, Natividad, Sánchez, Jesús, Romero, Sandra Gutierrez, Arbelo, José Matías, Malo de Molina, Rocío, Martín, Idaira, Periañez, Juan Manuel, Udaeta, Beatriz, Alonso-Frech, Fernando, Loarte, María del Valle, Barrero, Francisco, Morales, Blas, Frades, Belén, Villanueva, Marina Ávila, Zea Sevilla, Maria Ascension, Fenollar, María del Mar, García-Ramos García, Rocío, Villanueva, Clara, Bascuñana, Mónica, Ventura, Marta Fatás, Caldentey, Juan García, Ribas, Guillermo García, García de Yébenes, Justo, López-Sendón Moreno, José Luis, Barral, Verónica Mañanes, Feliz, Cici, García Ruíz, Pedro José, García, Ana, López, Rosa Guerrero, Bárcenas, Antonio Herranz, Martínez-Descals, Asunción, Pueyo, Angel Martínez, Martin, Veronica Puertas, Martínez, Noelia Rodríguez, Montojo, Teresa, Sainz Artiga, María José, Sánchez, Vicenta, Alarcón, María Dolores, Almagro, Carmen Antúnez, Diéguez, Esther, Fortuna, Lorenza, Legaz, Agustina, Manzanares, Salvadora, Muñoz, Juan Marín, Antequera Torres, María Martirio, Perea, Fuensanta Noguera, Vivancos, Laura, González, Sonia, Guisasola, Luis Menéndez, Prieto, Marta Para, Ribacoba, René, Salvador, Carlos, Lozano, Pablo Sánchez, Ramirez, Inés Legarda, Benito, Dolors Moragues, Arques, Penelope Navas, Lopera, Monica Rodriguez, Pastor, Barbara Vives, Gaston, Itziar, Garcia-Amigot, Fermin, Martinez-Jaurrieta, Maria Dolores, Ramos-Arroyo, Maria Antonia, Adarmes, Astrid, Bernal-Escudero, Maravilla, Carrillo, Fátima, Jesús, Silvia, Mir, Pablo, Vargas-González, Laura, Hermoso, Fátima Damas, García Moreno, José Manuel, Jaramillo, Javier Abril, Lucena, Carolina Mendez, Pacheco Cortegana, Eva María, Peña, José Chacón, Redondo, Luis, Sánchez, Violeta Sánchez, Fernandez, Cristina Melgar, Romero Lemos, María Dolores, Mata, Maite Paredes, Casado, Rocío Villagrán, Bosca, Maria, Burguera, Juan Andres, Brugada, Francisco Castera, Millán Salvador, Jose Maria, Vilaplana, Carmen Peiró, Solís, Pilar, Figuerola, Begoña Jeweinat, Palanca, Paloma Millan, Diago, Elena Bellosta, López del Val, Javier, Martinez, Laura Martinez, López, Elena, Høsterey-Ugander, Ulrika, Fredlund, Gunnel, Constantinescu, Radu, Lewin, Kajsa, Neleborn-Lingefjärd, Liselotte, Berglund, Maria, Berglund, Peter, Linnsand, Petra, Petersén, Åsa, Reimer, Jan, Widner, Håkan, Esmaeilzadeh, Mouna, Tedroff, Joakim, Winnberg, Elisabeth, Benaminov, Stanislav, Björnsson, Elisabeth, Merrick, Daniel, Paucar, Martin, Svenningsson, Per, Wallden, Tina, Berglund, Måns, Loutfi, Ghada, Olofsson, Carina, Stattin, Eva-Lena, Westman, Laila, Wikström, Birgitta, Ekwall, Camilla, Göller, Marie-Lousie, Johansson, Anders, Niemelä, Valter, Nyholm, Dag, Wiklund, Leif, Koehli, Jessica, Stebler, Yanik, Kaelin, Alain, Romero, Irene, Schüpbach, Michael, Zaugg, Sabine Weber, Esposito, Federica, Good, Jean-Marc, Paus, Karin, Vingerhoets, Francois, Wider+, Christian, Jung, Hans H., Petersen, Jens A., Ligon-Auer, Maria, Mihaylova, Violeta, Downie, Lorna, Jack, Roisin, Matheson, Kirsty, Miedzybrodzka, Zosia, Rae, Daniela, Simpson, Sheila A., Summers, Fiona, Ure, Alexandra, Vaughan, Vivien, Harrower, Timothy, Vernon, Nathan, Akhtar, Shahbana, Crooks, Jenny, Curtis, Adrienne, de Souza (Keylock), Jenny, Piedad, John, Rickards, Hugh, Wright, Jan, Haig-Brown, Diane, Craven, Janet, Pallett, Andrew, Simpson, Steve, Weekes, Rebecca, Coulthard, Elizabeth, Gethin, Louise, Hayward, Beverley, Sieradzan, Kasia, Barker, Roger A., O'Keefe, Deidre, Gerrtiz (nee Di Pietro), Anna, Fisher, Kate, Goodman, Anna, Hill, Susan, Mason, Sarah, Swain, Rachel, Guzman, Natalie Valle, Busse, Monica, Butcher, Cynthia, Dunnett, Stephen, Clenaghan, Catherine, Hunt, Sarah, Jones, Lesley, Jones, Una, Khalil, Hanan, Owen, Michael, Price, Kathleen, Rosser, Anne, Goudie, David, Buchanan, Lindsay, Mcfadyen, Paula, Tonner, Alison, Taylor, Anne-Marie, Edwards, Maureen, Carrie, Ho, Mcgill, Marie, Porteous, Mary, Pearson, Pauline, Irvine, Sarah, Brockie, Peter, Foster, Jillian, Johns, Nicola, Mckenzie, Sue, Rothery, Jean, Thomas, Gareth, Yates, Shona, Neumann, Christian, Patterson, Kirsten, Thomson, David, Deith, Catherine, Ireland, Jane, Ritchie, Stuart, Brown, Pauline, Burrows, Liz, Fletcher, Amy, Harding, Alison, Harrison, Kaye, Laver, Fiona, Silva, Mark, Thomson, Aileen, Chu, Carol, Evans, Carole, Gallentree, Deena, Hamer, Stephanie, Kraus, Alison, Markova, Ivana, Raman, Ashok, Rowett, Liz, Andrew, Alyson, Frost, Julie, Noad, Rupert, Cosgrove, Jeremy, Gallantree, Deena, Hobson, Emma, Jamieson, Stuart, Longthorpe, Mandy, Musgrave, Hannah, Peacy, Caroline, Toscano, Jean, Wild, Sue, Yardumian, Pam, Clayton, Carole, Dipple, Heather, Freire-Patino, Dawn, Hallam, Caroline, Middleton, Julia, Alusi, Sundus, Davies, Rhys, Foy, Kevin, Gerrans, Emily, Pate, Louise, Anjum, Uruj, Coebergh, Jan, Eddy, Charlotte, Lahiri, Nayana, Mcentagart, Meriel, Patton, Michael, Peterson, Maria, Rose, Sarah, Andrews, Thomasin, Dougherty, Andrew, Golding, Charlotte, Kavalier, Fred, Laing, Hana, Lashwood, Alison, Robertson, Dene, Ruddy, Deborah, Santhouse, Alastair, Whaite, Anna, Gosling (nee Brown), Stefanie, Bruno, Stefania, Chu, Elvina, Doherty, Karen, Haider, Salman, Hensman, Davina, Lewis, Monica, Novak, Marianne, Patel, Aakta, Robertson, Nicola, Rosser, Elisabeth, Tabrizi, Sarah, Taylor, Rachel, Warner, Thomas, Wild, Edward, Ackermann, Oda, Duport, Sophie, Scott, Adrienne, Stoy, Nicholas, Vaughn, Jenny, Arran, Natalie, Bek, Judith, Craufurd, David, Hare, Marianne, Howard, Liz, Huson, Susan, Johnson, Liz, Jones, Mary, Krishnamoorthy, Ashok, Murphy, Helen, Oughton, Emma, Partington-Jones, Lucy, Sollom, Andrea, Snowden, Julie, Stopford, Cheryl, Thompson, Jennifer, Trender-Gerhard, Iris, Verstraelen (formerly Ritchie), Nichola, Westmoreland, Leann, Cass, Ginette, Davidson, Lynn, Davison, Jill, Fullerton, Neil, Holmes, Katrina, Komati, Suresh, Mcdonnell, Sharon, Mohammed, Zeid, Morgan, Karen, Savage, Lois, Singh, Baldev, Wood, Josh, Knight, Caroline, O'Neill, Mari, Purkayastha, Debasish Das, Nemeth, Andrea H., Siuda, Gill, Valentine, Ruth, Dixon, Kathryn, Armstrong, Richard, Harrison, David, Hughes, Max, Large, Sandra, Donovan, John O., Palmer, Amy, Parkinson, Andrew, Soltysiak, Beverley, Timings, Leanne, Williams, Josh, Burn, John, Bailey, Wendy, Coleman, Caroline, Majeed, Tahir, Verstraelen (Ritchie), Nicola, Barrett, Wendy, Aileen, Ho, Bandmann, Oliver, Bradbury, Alyson, Fairtlough, Helen, Fillingham, Kay, Foustanos, Isabella, Gill, Paul, Kazoka, Mbombe, O'Donovan, Kirsty, Nevitt, Louise, Taylor, Cat, Tidswell, Katherine, Kipps, Christopher, Mackinnon, Lesley, Agarwal, Veena, Hayward, Elaine, Gunner, Kerry, Harris, Kayla, Anderson, Mary, Heywood, Melanie, Keys, Liane, Smalley, Sarah, El-Nimr, George, Duffell, Allison, Wood, Sue, Kennedy (nee Smith), Karen, Gowers, Lesley, Powell, Kingsley, Bethwaite, Pamela, Edwards, Rachel, Fuller, Kathleen, Phillips, Michelle, Tan, Louis, Lau, Puay Ngoh, Pica, Emmanuel, Roos, Raymund AC., Klinische Neurowetenschappen, MUMC+: MA Med Staf Spec Neurologie (9), MUMC+: KIO Kemta (9), Epidemiologie, RS: CAPHRI - R2 - Creating Value-Based Health Care, Klinische Genetica, MUMC+: DA KG Polikliniek (9), and RS: GROW - R4 - Reproductive and Perinatal Medicine
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Male ,HD ,0301 basic medicine ,Pediatrics ,Neurology ,Huntingtin Protein/genetics ,FEATURES ,Disease ,Neuropsychological Tests ,0302 clinical medicine ,Cognitive Dysfunction/psychology ,Medicine ,Family history ,Postural Balance ,Huntington Disease/genetics ,Huntingtin Protein ,education.field_of_study ,Chorea/physiopathology ,Huntington's disease ,Sensation Disorders/physiopathology ,Middle Aged ,Dystonia ,Settore MED/26 - NEUROLOGIA ,Huntington Disease ,neurodegenerative disorders ,Sensation Disorders ,Disease Progression ,Female ,medicine.symptom ,Adult ,medicine.medical_specialty ,Population ,Age of onset ,Late-onset Huntington's disease ,Geriatrics and Gerontology ,Neurology (clinical) ,03 medical and health sciences ,AGE ,Chorea ,Humans ,Cognitive Dysfunction ,education ,Dystonia/physiopathology ,Gait Disorders, Neurologic/physiopathology ,Gait Disorders, Neurologic ,business.industry ,medicine.disease ,Gait ,030104 developmental biology ,Trinucleotide Repeat Expansion ,business ,030217 neurology & neurosurgery ,Balance problems - Abstract
Background: The frequency of late-onset Huntington's disease (>59 years) is assumed to be low and the clinical course milder. However, previous literature on late-onset disease is scarce and inconclusive. Objective: Our aim is to study clinical characteristics of late-onset compared to common-onset HD patients in a large cohort of HD patients from the Registry database. Methods: Participants with late- and common-onset (30–50 years)were compared for first clinical symptoms, disease progression, CAG repeat size and family history. Participants with a missing CAG repeat size, a repeat size of ≤35 or a UHDRS motor score of ≤5 were excluded. Results: Of 6007 eligible participants, 687 had late-onset (11.4%) and 3216 (53.5%) common-onset HD. Late-onset (n = 577) had significantly more gait and balance problems as first symptom compared to common-onset (n = 2408) (P
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- 2019
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42. Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification
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Nicolas, Gaël, Pottier, Cyril, Charbonnier, Camille, Guyant-Maréchal, Lucie, Le Ber, Isabelle, Pariente, Jérémie, Labauge, Pierre, Ayrignac, Xavier, Defebvre, Luc, Maltête, David, Martinaud, Olivier, Lefaucheur, Romain, Guillin, Olivier, Wallon, David, Chaumette, Boris, Rondepierre, Philippe, Derache, Nathalie, Fromager, Guillaume, Schaeffer, Stéphane, Krystkowiak, Pierre, Verny, Christophe, Jurici, Snejana, Sauvée, Mathilde, Vérin, Marc, Lebouvier, Thibaud, Rouaud, Olivier, Thauvin-Robinet, Christel, Rousseau, Stéphane, Rovelet-Lecrux, Anne, Frebourg, Thierry, Campion, Dominique, Hannequin, Didier, Ahtoy, Patrick, Anheim, Mathieu, Augustin, Jérôme, Ayrignac, Xavier, Bille-Turc, Françoise, Campion, Dominique, Chaumette, Boris, Clanet, Michel, Defebvre, Luc, Defer, Gilles, Derache, Nathalie, Didic, Mira, Durif, Franck, Flamand-Roze, Emmanuel, Fromager, Guillaume, Giroud, Maurice, Goldenberg, Alice, Guillin, Olivier, Guyant-Maréchal, Lucie, Hannequin, Didier, Hubsch, Cécile, Jurici, Snejana, Krystkowiak, Pierre, Labauge, Pierre, Layet, Antoine, Le Ber, Isabelle, Lebouvier, Thibaud, Lefaucheur, Romain, Maltête, David, Morcamp, Olivier Martinaud Donald, Nicolas, Gaël, Ozkul, Ozlem, Pariente, Jérémie, Pottier, Cyril, Rondepierre, Philippe, Rouaud, Olivier, Sallé, Brigitte, Sauvée, Mathilde, Schaeffer, Stéphane, Thauvin-Robinet, Christel, Thomas-Antérion, Catherine, Tranchant, Christine, Triquenot, Aude, Vaschalde, Yvan, Vérin, Marc, Verny, Christophe, Vidailhet, Marie, and Wallon, David
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- 2013
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43. In vivo evidence for the selective subcortical degeneration in Huntington's disease
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Douaud, Gwenaëlle, Behrens, Timothy E., Poupon, Cyril, Cointepas, Yann, Jbabdi, Saâd, Gaura, Véronique, Golestani, Narly, Krystkowiak, Pierre, Verny, Christophe, Damier, Philippe, Bachoud-Lévi, Anne-Catherine, Hantraye, Philippe, and Remy, Philippe
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- 2009
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44. A Phase II, Open-Label Evaluation of Cysteamine Tolerability in Patients With Huntingtonʼs Disease
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Prundean, Adriana, Youssov, Katia, Humbert, Sandrine, Bonneau, Dominique, and Verny, Christophe
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- 2015
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45. Adult-onset genetic leukoencephalopathies: A MRI pattern-based approach in a comprehensive study of 154 patients
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Ayrignac, Xavier, Carra-Dalliere, Clarisse, Menjot de Champfleur, Nicolas, Denier, Christian, Aubourg, Patrick, Bellesme, Celine, Castelnovo, Giovanni, Pelletier, Jean, Audoin, Bertrand, Kaphan, Elsa, de Seze, Jerome, Collongues, Nicolas, Blanc, Frederic, Chanson, Jean-Baptiste, Magnin, Eloi, Berger, Eric, Vukusic, Sandra, Durand-Dubief, Francoise, Camdessanche, Jean-Philippe, Cohen, Mickael, Lebrun-Frenay, Christine, Brassat, David, Clanet, Michel, Vermersch, Patrick, Zephir, Helene, Outteryck, Olivier, Wiertlewski, Sandrine, Laplaud, David-Axel, Ouallet, Jean-Christophe, Brochet, Bruno, Goizet, Cyril, Debouverie, Marc, Pittion, Sophie, Edan, Gilles, Deburghgraeve, Véronique, Le Page, Emmanuelle, Verny, Christophe, Amati-Bonneau, Patrizia, Bonneau, Dominique, Hannequin, Didier, Guyant-Maréchal, Lucie, Derache, Nathalie, Louis Defer, Gilles, Moreau, Thibault, Giroud, Maurice, Guennoc, Anne Marie, Clavelou, Pierre, Taithe, Frédérique, Mathis, Stephane, Neau, Jean-Philippe, Magy, Laurent, Devoize, Jean Louis, Bataillard, Marc, Masliah-Planchon, Julien, Dorboz, Imen, Tournier-Lasserve, Elisabeth, Levade, Thierry, Boespflug Tanguy, Odile, and Labauge, Pierre
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- 2015
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46. Improved Locus-Specific Database for OPA1 Mutations Allows Inclusion of Advanced Clinical Data
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Ferré, Marc, Caignard, Angélique, Milea, Dan, Leruez, Stéphanie, Cassereau, Julien, Chevrollier, Arnaud, Amati-Bonneau, Patrizia, Verny, Christophe, Bonneau, Dominique, Procaccio, Vincent, and Reynier, Pascal
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- 2015
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47. OPA1-associated disorders: Phenotypes and pathophysiology
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Amati-Bonneau, Patrizia, Milea, Dan, Bonneau, Dominique, Chevrollier, Arnaud, Ferré, Marc, Guillet, Virginie, Gueguen, Naïg, Loiseau, Dominique, Crescenzo, Marie-Anne Pou de, Verny, Christophe, Procaccio, Vincent, Lenaers, Guy, and Reynier, Pascal
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- 2009
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48. A genetic variation in the ADORA2A gene modifies age at onset in Huntington's disease
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Dhaenens, Claire-Marie, Burnouf, Sylvie, Simonin, Clémence, Van Brussel, Edwige, Duhamel, Alain, Defebvre, Luc, Duru, Cécile, Vuillaume, Isabelle, Cazeneuve, Cécile, Charles, Perrine, Maison, Patrick, Debruxelles, Sabrina, Verny, Christophe, Gervais, Hélène, Azulay, Jean-Philippe, Tranchant, Christine, Bachoud-Levi, Anne-Catherine, Dürr, Alexandra, Buée, Luc, Krystkowiak, Pierre, Sablonnière, Bernard, and Blum, David
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- 2009
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49. Adenine nucleotide translocase is involved in a mitochondrial coupling defect in MFN2-related Charcot–Marie–Tooth type 2A disease
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Guillet, Virginie, Gueguen, Naïg, Verny, Christophe, Ferre, Marc, Homedan, Chadi, Loiseau, Dominique, Procaccio, Vincent, Amati-Bonneau, Patrizia, Bonneau, Dominique, Reynier, Pascal, and Chevrollier, Arnaud
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- 2010
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50. The most appropriate primary outcomes to design clinical trials on Huntingtonʼs disease: meta-analyses of cohort studies and randomized placebo-controlled trials
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Salem, Linda, Saleh, Nadine, Youssov, Katia, Olivier, Audrey, Charles, Perrine, Scherer, Clarisse, Verny, Christophe, Bachoud-Lévi, Anne-Catherine, and Maison, Patrick
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- 2014
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