464 results on '"Verny, Christophe"'
Search Results
52. 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 Maldergen, 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, Nielsen, Jørgen E., Svenstrup, Kirsten, 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 Maldergen, 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, Nielsen, Jørgen E., and Svenstrup, Kirsten
- Abstract
Purpose: Pathogenic variants in STUB1 were initially described in autosomal recessive spinocerebellar ataxia type 16 and dominant cerebellar ataxia with cerebellar cognitive dysfunction (SCA48). Methods: We analyzed a large series of 440 index cerebellar ataxia cases, mostly with dominant inheritance. Results: STUB1 variants were detected in 50 patients. Age at onset and severity were remarkably variable. Cognitive impairment, predominantly frontal syndrome, was observed in 54% of STUB1 variant carriers, including five families with Huntington or frontotemporal dementia disease–like phenotypes associated with ataxia, while no STUB1 variant was found in 115 patients with frontotemporal dementia. We report neuropathological findings of a STUB1 heterozygous patient, showing massive loss of Purkinje cells in the vermis and major loss in the cerebellar hemispheres without atrophy of the pons, hippocampus, or cerebral cortex. This screening of STUB1 variants revealed new features: (1) the majority of patients were women (70%) and (2) “second hits” in AFG3L2, PRKCG, and TBP were detected in three families suggesting synergic effects. Conclusion: Our results reveal an unexpectedly frequent (7%) implication of STUB1 among dominantly inherited cerebellar ataxias, and suggest that the penetrance of STUB1 variants could be modulated by other factors, including sex and variants in other ataxia-related genes.
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- 2020
53. Human Fetal Cell Therapy in Huntington's Disease: A Randomized, Multicenter, Phase II 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, 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, and Hantraye, Philippe
- Abstract
info:eu-repo/semantics/published
- Published
- 2020
54. Assessing the experience of the quality of care of patients living with multiple sclerosis and their caregivers: The MusiCare questionnaire
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Veillard, David, primary, Baumstarck, Karine, additional, Edan, Gilles, additional, Debouverie, Marc, additional, Wiertlewski, Sandrine, additional, De Sèze, Jérôme, additional, Clavelou, Pierre, additional, Pelletier, Jean, additional, Verny, Christophe, additional, Chauvin, Karine, additional, Cosson, Marie Elisabeth, additional, Loundou, Anderson, additional, and Auquier, Pascal, additional
- Published
- 2021
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55. MusiCare
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Veillard, David, primary, Baumstarck, Karine, additional, Edan, Gilles, additional, Debouverie, Marc, additional, Wiertlewski, Sandrine, additional, De Sèze, Jérôme, additional, Clavelou, Pierre, additional, Pelletier, Jean, additional, Verny, Christophe, additional, Chauvin, Karine, additional, Cosson, Marie Elisabeth, additional, Loundou, Anderson, additional, and Auquier, Pascal, additional
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- 2021
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56. Encéphalopathie éthylmalonique à 33 ans
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Bendimerad, Mohamed, Barth, Magalie, Verny, Christophe, and Lavigne, Christian
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- 2023
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57. Sensorineural hearing loss in OPA1-linked disorders
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Leruez, Stéphanie, Milea, Dan, Defoort-Dhellemmes, Sabine, Colin, Estelle, Crochet, Martine, Procaccio, Vincent, Ferré, Marc, Lamblin, Julie, Drouin, Valérie, Vincent-Delorme, Catherine, Lenaers, Guy, Hamel, Christian, Blanchet, Catherine, Juul, Gitte, Larsen, Michael, Verny, Christophe, Reynier, Pascal, Amati-Bonneau, Patrizia, and Bonneau, Dominique
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- 2013
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58. G51D α-synuclein mutation causes a novel Parkinsonian–pyramidal syndrome
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Lesage, Suzanne, Anheim, Mathieu, Letournel, Franck, Bousset, Luc, Honoré, Aurélie, Rozas, Nelly, Pieri, Laura, Madiona, Karine, Dürr, Alexandra, Melki, Ronald, Verny, Christophe, and Brice, Alexis
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- 2013
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59. Estimation of the inbreeding coefficient through use of genomic data
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Leutenegger, Anne-Louise, Prum, Bernard, Genin, Emmanuelle, Verny, Christophe, Lemainque, Arnaud, Clerget-Darpoux, Francoise, and Thompson, Elizabeth A.
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Genomes -- Physiological aspects ,Chromosome mapping -- Genetic aspects ,Allelomorphism -- Genetic aspects ,Inbreeding -- Genetic aspects ,Heredity -- Research ,Heredity -- Genetic aspects ,Human genetics -- Research ,Population genetics -- Demographic aspects ,Biological sciences - Published
- 2003
60. pH as a Biomarker of Neurodegeneration in Huntingtonʼs Disease: A Translational Rodent-Human MRS Study
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Chaumeil, Myriam M, Valette, Julien, Baligand, Céline, Brouillet, Emmanuel, Hantraye, Philippe, Bloch, Gilles, Gaura, Véronique, Rialland, Amandine, Krystkowiak, Pierre, Verny, Christophe, Damier, Philippe, Remy, Philippe, Bachoud-Levi, Anne-Catherine, Carlier, Pierre, and Lebon, Vincent
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- 2012
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61. Evidence for Deficits on Different Components of Theory of Mind in Huntingtonʼs Disease
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Allain, Philippe, Havet-Thomassin, Valérie, Verny, Christophe, Gohier, Bénédicte, Lancelot, Céline, Besnard, Jérémy, Fasotti, Luciano, and Le Gall, Didier
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- 2011
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62. Étude du cerveau humain à l’échelle nanoscopique par microscopie Super-Résolutive STORM
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Codron, Philippe, primary, Letournel, Franck, additional, Marty, Serge, additional, Duchesne, Mathilde, additional, Verny, Christophe, additional, Lenaers, Guy, additional, Duyckaerts, Charles, additional, Julien, Jean-Pierre, additional, Cassereau, Julien, additional, and Chevrollier, Arnaud, additional
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- 2020
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63. Accident vasculaire cérébral ischémique révélant une endocardite infectieuse à Aspergillus fumigatus sur valve native : à propos d’un cas
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Journe, Isabelle, primary, Perrier, Mélanie, additional, Verny, Christophe, additional, Vautier, Anaïs, additional, Dhersin, Robin, additional, and Lemoine, Jean-Philippe, additional
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- 2020
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64. STochastic Optical Reconstruction Microscopy (STORM) reveals the nanoscale organization of pathological aggregates in human brain
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Codron, Philippe, primary, Letournel, Franck, additional, Marty, Serge, additional, Bodin, Alexia, additional, Renaud, Laurence, additional, Duchesne, Mathilde, additional, Verny, Christophe, additional, Lenaers, Guy, additional, Duyckaerts, Charles, additional, Julien, Jean-Pierre, additional, Cassereau, Julien, additional, and Chevrollier, Arnaud, additional
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- 2020
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65. Theory of Mind Impairments Highlighted With an Ecological Performance-Based Test Indicate Behavioral Executive Deficits in Traumatic Brain Injury
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Allain, Philippe, primary, Hamon, Martin, additional, Saoût, Virginie, additional, Verny, Christophe, additional, Dinomais, Mickaël, additional, and Besnard, Jeremy, additional
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- 2020
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66. Novel CCM2 missense variants abrogating the CCM1–CCM2 interaction cause cerebral cavernous malformations
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Bergametti, Françoise, primary, Viot, Geraldine, additional, Verny, Christophe, additional, Brechard, Marie Pierre, additional, Denier, Christian, additional, Labauge, Pierre, additional, Petit, Paul, additional, Nouet, Aurélien, additional, Viallet, François, additional, Chaussenot, Annabelle, additional, Hervé, Dominique, additional, Tournier-Lasserve, Elisabeth, additional, and Riant, Florence, additional
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- 2020
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67. Papilloedema and MRI enhancement of the prechiasmal optic nerve at the acute stage of Leber hereditary optic neuropathy
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Lamirel, Cédric, Cassereau, Julien, Cochereau, Isabelle, Vignal-Clermont, Catherine, Pajot, Olivier, Tanguy, Jean-Yves, Zanlonghi, Xavier, Reynier, Pascal, Amati-Bonneau, Patrizia, Dubas, Frédéric, Bonneau, Dominique, and Verny, Christophe
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- 2010
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68. Reduced Cancer Incidence in Huntington's Disease: Analysis in the Registry Study
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Mcnulty, Paul, Pilcher, Richard, Ramesh, Raviram, Necuiniate, Renata, Hughes, Alis, Farewell, Daniel, Holmans, Peter, Jones, Lesley, Bonelli, Raphael M., Hecht, Karen, Herranhof, Brigitte, Holl, 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, Constant, Eric, Gillardin, Anne-Françoise, Léonard, Marie-Claude, Verellen-Dumoulin, Christine, Van De Wyngaerde, Françoise, Dupuis, Michel, Minet, Cécile, Ribaï, Pascale, Van Paemel, Dominique, Boogaerts, Andrea, Vandenberghe, Wim, Van Reijen, Dimphna, Kaiserova, Michaela, Šenkárová, Zuzana, Klempíř, Jiří, Majerová, Veronika, Roth, Jan, Madsen, Louise Hasselstrøm, Møller, Anette Torvin, Hjermind, Lena, Jacobsen, Oda, Lindquist, Suzanne, Nielsen, Jørgen, Regeur, Lisbeth, Stockholm, Jette, Larsen, Ida Unmack, Vangsted-Hansen, Christina, Vinther-Jensen, Tua, Lolk, Annette, Lundsgaard, Marianne, Wermuth, Lene, Andersson, Christian, Nyberg, Clara, Sundblom, Jimmy, Peippo, Maarit, Sipponen, Marjett, Hartikainen, Paivi, Ollokainen, Mari, Åman, Jaana, Ignatius, Jaakko, Kärppä, Mikko, Mustonen, Aki, Kajula, Outi, Jääskalainen, Outi, Moilanen, Jukka, Santala, Maire, Eklund, Pia, Hiivola, Heli, Hyppönen, Hannele, Martikainen, Kirsti, 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, Debruxelles, Sabrina, Duché, Charlotte, Goizet, Cyril, Jameau, Laetitia, Lafoucrière, Danielle, Spampinato, Umberto, Couttier, Julien, Debilly, Bérengère, Delaigue, Christine, Durif, Franck, Legendre, Perrine, Loiseau, Sylvie, Ulla, Miguel, Vidal, Tiphaine, Bachoud-Lévi, Anne-Catherine, Badei, Farideh, Boissé, Marie-Françoise, Boudali, Lotfi, De Langavant, Laurent Cleret, 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, Benoit, Alexandra, Berrisoul, Hassan, Blin, Stéphanie, Courtin, Françoise, Duru, Cécile, Fasquel, Véronique, Flament, Mélanie, Godefroy, Olivier, Mantaux, Béatrice, Playe, Alicia, Roussel, Martine, Tir, Mélissa, Schüler, Béatrice, Wannepain, Sandrine, Azulay, Jean-Philippe, Chabot, Christelle, Delfini, Marie, Eusebio, Alexandre, Fluchere, Frédérique, Grosjean, Hélène, Mundler, Laura, Nowak, Marielle, Raseta, Rolland, Benaich, Sandra, Brice, Alexis, Charles, Perrine, Durr, Alexandra, Ewenczyk, Claire, Francisque, Hélène, Jauffret, Céline, Justo, Damian, Kassar, Abdulrahman, Klebe, Stephan, Lesne, Fabien, Milani, Paolo, Monin, Marie-Lorraine, 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, Lagha-Boukbiza, Ouhaid, Longato, Nadine, Marcel, Christophe, Phillipps, Clélie, Rudolf, Gabrielle, Steinmetz, Giséle, Tranchant, Christine, Wagner, Caroline, Zimmermann, Marie-Agathe, Blondeau, Leily, Calvas, Fabienne, Cheriet, Samia, Delabaere, Helène, Demonet, Jean-François, Pariente, Jérémie, Pierre, Michèle, Rolland, Sandrine, 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, Saft, Carsten, Stamm, Christiane, Lange, Herwig, Maiwald, Robert, 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, Ganos, Christos, Goerendt, Ines, Heinicke, Walburgis, Hidding, Ute, Lewerenz, Jan, Münchau, Alexander, Orth, Michael, Schmalfeld, Jenny, Stubbe, Lars, 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, 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, Barth, Katrin, Buck, Andrea, Connemann, Julia, Ecker, Daniel, Geitner, Carolin, Held, Christine, 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, Sciruicchio, Vittorio, Serpino, Claudia, De Tommaso, Marina, Calandra-Buonaura, Giovanna, Capellari, Sabina, Cortelli, Pietro, Gallassi, Roberto, Poda, Roberto, Scaglione, Cesa, Bertini, Elisabetta, Ghelli, Elena, Ginestroni, Andrea, 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, DI Maria, Emilio, Albanese, Alberto, Castagliuolo, Simona, Castaldo, Anna, DI Donato, Stefano, DI Bella, Daniela, Gellera, Cinzia, Genitrini, Silvia, Mariotti, Caterina, Monza, Daniela, 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, Martino, Tiziana, Mazzante, Irene, Petrollini, Martina, Simonelli, Maria, Vezza, Maurizio, Squitieri, Ferdinando, 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, Piccininni, Chiara, Quaranta, Davide, Romano, Silvia, Soleti, Francesco, Solito, Marcella, Spadaro, Maria, Torlizzi, Flavia, Zinzi, Paola, Coarelli, Giulia, Ferraldeschi, Michela, Ristori, Giovanni, Van Hout, Monique S. E., Van Vugt, Jeroen P. P., De Weert, A. Marit, Verhoeven, Marloes, Dekker, Meike, Leenders, Nico, Van Oostrom, Joost, Klooster, Jesper, Kremer, Berry, Baake, Verena, Van Den Bogaard, Simon J. A., Bos, Reineke, Dumas, Eve M., Hart'T, Ellen P., Kampstra, Anne, Roos, Raymund A. C., Schoonderbeek, Anne, Duits, Annelien, Oosterloo, Mayke, Waber, Mirella, Verstappen, Carla, Blinkenberg, Ellen Økland, Hauge, Erik, Tyvoll, Hilde, Aaserud, Olaf, Bjørgo, Kathrine, Borgeød, Nancy, Dramstad, Elisabeth, Fannemel, Madeleine, Frich, Jan C., Gørvell, Per F., Heiberg, Arvid, Retterstøl, Lars, Røsby, Oddveig, Sikiric, Alma, Stokke, Bodil, Van Walsem, Marleen, Wehus, Ragnhild, Bjørnevoll, Inga, Sando, Sigrid Botne, Haug, Marte Gjøl, Størseth, Hanna Haugan, Arntsen, Vibeke, Dziadkiewicz, Artur, Nowak, Malgorzata, Robowski, Piotr, Sitek, Emilia, Slawek, Jaroslaw, Soltan, Witold, Szinwelski, Michal, Arkuszewski, Michal, Blaszczyk, Magdalena, Boczarska-Jedynak, Magdalena, Ciach-Wysocka, Ewelina, Gorzkowska, Agnieszka, Jasińska-Myga, Barbara, Kaczmarczyk, Aleksandra, Klodowska-Duda, Gabriela, Opala, Grzegorz, Stompel, Daniel, Banaszkiewicz, Krzysztof, Boćwińska, Dorota, Bojakowska-Jaremek, Kamila, Dec, Malgorzata, Grabska, Natalia, Krawczyk, Malgorzata, Kubowicz, Ewelina, Malec-Litwinowicz, Michalina, Rudzińska, Monika, Stenwak, Agata, Szczudlik, Andrzej, Szczygiel, Elzbieta, Wójcik, Magdalena, Wasielewska, Anna, Aniola, Jacek, Bryl, Anna, Ciesielska, Anna, Klimberg, Aneta, Marcinkowski, Jerzy, Samara, Husam, Sempolowicz, Justyna, Wiśniewski, Bartlomiej, Zielonka, Daniel, Gogol, Anna, Janik, Piotr, Jamrozik, Zygmunt, Kaminska, Anna, Kwiecinski, Hubert, Antczak, Jakub, Jachinska, Katarzyna, Krysa, Wioletta, Rakowicz, Maryla, Richter, Przemyslaw, Rola, Rafal, Ryglewicz, Danuta, Sienkiewicz-Jarosz, Halina, Stȩpniak, Iwona, Sulek, Anna, Witkowski, Grzegorz, Zaremba, Jacek, Zdzienicka, Elzbieta, Ziora-Jakutowicz, Karolina, Januário, Cristina, Júlio, Filipa, Almeida, Manuel, Calado, Ana, Dias, Margarida, Morgado, Joana, Semedo, Cristina, Guedes, Leonor Correia, Coelho, Miguel, Ferreira, Joaquim J, Mestre, Tiago, Mendes, Tiago, Valadas, Anabela, Costa, Cristina, Cardoso, Helena, Andrade, Carlos, Costa, Andreia, Garrett, Carolina, Gago, Miguel, Guimarães, 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Kaczmarczyk, Aleksandra, Klodowska-Duda, Gabriela, Opala, Grzegorz, Stompel, Daniel, Banaszkiewicz, Krzysztof, Boćwińska, Dorota, Bojakowska-Jaremek, Kamila, Dec, Malgorzata, Grabska, Natalia, Krawczyk, Malgorzata, Kubowicz, Ewelina, Malec-Litwinowicz, Michalina, Rudzińska, Monika, Stenwak, Agata, Szczudlik, Andrzej, Szczygiel, Elzbieta, Wójcik, Magdalena, Wasielewska, Anna, Aniola, Jacek, Bryl, Anna, Ciesielska, Anna, Klimberg, Aneta, Marcinkowski, Jerzy, Samara, Husam, Sempolowicz, Justyna, Wiśniewski, Bartlomiej, Zielonka, Daniel, Gogol, Anna, Janik, Piotr, Jamrozik, Zygmunt, Kaminska, Anna, Kwiecinski, Hubert, Antczak, Jakub, Jachinska, Katarzyna, Krysa, Wioletta, Rakowicz, Maryla, Richter, Przemyslaw, Rola, Rafal, Ryglewicz, Danuta, Sienkiewicz-Jarosz, Halina, Stȩpniak, Iwona, Sulek, Anna, Witkowski, Grzegorz, Zaremba, Jacek, Zdzienicka, Elzbieta, Ziora-Jakutowicz, Karolina, Januário, Cristina, Júlio, Filipa, Almeida, Manuel, Calado, Ana, DIas, Margarida, Morgado, Joana, Semedo, Cristina, Guedes, Leonor Correia, Coelho, Miguel, Ferreira, Joaquim J, Mestre, Tiago, Mendes, Tiago, Valadas, Anabela, Costa, Cristina, Cardoso, Helena, Andrade, Carlo, Costa, Andreia, Garrett, Carolina, Gago, Miguel, Guimarães, Joana, Massano, João, Meireles, Joana, Monteiro, Ana, Herrera, Carmen Durán, Moreno, Patrocinio Garcia, Bas, Jordi, Busquets, Núria, Calopa, Matilde, Classen, Serge Jaumá, Dedichá, Nadia Rodríguez, Buongiorno, María Teresa, De La Cerda Santa María, André, Muñoz, Esteban, Santacruz, Pilar, Barbera, Miquel Aguilar, Sebastián, Ana Rojo, Pardo, Sonia Arriba, Guia, Dolors Badene, Calzado, Noemi, Hernanz, Laura Casa, DÍaz-Zorita, Juan Pablo Tartari, Catena, Judit López, Ferrer, Pilar Quiléz, Carruesco, Gemma Tome, Robert, Misericordia Floriach, Viladrich, Cèlia Mareca, Roca, Elvira, Idiago, Jesús Miguel Ruiz, Villa Riballo, Antonio, Campolongo, Antonia, De Bobadilla, Ramon Fernandez, Bojarsky, Jaime Kulisevsky, Martinez-Horta, Saul, Pagonabarraga, Javier, Perez, Jesus Perez, Ribosa, Roser, Villa, Carolina, Angeles, Maria, Gil, Acera, Corrales, Koldo Berganzo, Esteban, Juan Carlos Gomez, González, Amaia, Merino, Beatriz Tijero, Cubo, Esther, Polo, Cecilia Gil, Mariscal, Natividad, Romero, Sandra Gutierrez, Arbelo, José Matía, De Molina, Rocío Malo, Martín, Idaira, Periañez, Juan Manuel, Udaeta, Beatriz, Alonso-Frech, Fernando, Del Valle Loarte, María, Barrero, Francisco, Morales, Bla, Frades, Belén, Villanueva, Marina Ávila, Sevilla, Maria Ascension Zea, Frech, Fernando Alonso, Del Mar Fenollar, María, García, Rocío García-Ramo, Villanueva, Clara, Garde, Mónica Bascuñana, Ventura, Marta Fatá, Caldentey, Juan García, Ribas, Guillermo García, De Yébenes, Justo García, Moreno, José Luis López-Sendón, Barral, Verónica Mañane, Cubillo, Patricia Trigo, Ruíz, Pedro José García, García, Ana, López, Rosa Guerrero, Bárcenas, Antonio Herranz, Martínez-Descals, Asunción, Martin, Veronica Puerta, Martínez, Noelia Rodríguez, Artiga, María José Sainz, Sánchez, Vicenta, Pueyo, Angel Martínez, Alarcón, Moreau María Dolore, Almagro, Carmen Antúnez, DIéguez, Esther, Fortuna, Lorenza, Manzanares, Salvadora, Muñoz, Juan Marín, Torres, María Martirio Antequera, Perea, Fuensanta Noguera, Vivancos, Laura, González, Sonia, Guisasola, Luis Menéndez, Prieto, Marta Para, Ribacoba, René, Salvador, Carlo, Lozano, Pablo Sánchez, Ramirez, Inés Legarda, Arques, Penelope Nava, Lopera, Monica Rodriguez, Pastor, Barbara Vive, Gaston, Itziar, Garcia-Amigot, Fermin, Martinez-Jaurrieta, Maria Dolore, Ramos-Arroyo, Maria Antonia, Carrillo, Fátima, Redondo, María Teresa Cácere, Mir, Pablo, González, Laura Varga, Hermoso, Fátima Dama, Moreno, Jose Manuel García, Lucena, Carolina Mendez, Cortegana, Eva María Pacheco, Peña, José Chacón, Redondo, Lui, Sánchez, Violeta Sánchez, Fernandez, Cristina Melgar, Lemos, María Dolores Romero, Mata, Maite Parede, Casado, Rocío Villagrán, Bosca, Maria, Burguera, Juan Andre, Brugada, Francisco Castera, Vilaplana, Carmen Peiró, Solís, Pilar, Figuerola, Begoña Jeweinat, Palanca, Paloma Millan, Wahlström, Jan, Høsterey-Ugander, Ulrika, Fredlund, Gunnel, Constantinescu, Radu, Neleborn-Lingefjärd, Liselotte, Berglund, Maria, Berglund, Peter, Linnsand, Petra, Björnsson, Elisabeth, Paucar, Martin, Pålhagen, Sven, Svenningsson, Per, Wallden, Tina, Loutfi, Ghada, Olofsson, Carina, Stattin, Eva-Lena, Westman, Laila, Wikström, Birgitta, Ekwall, Camilla, Göller, Marie-Lousie, Burgunder, Jean-Marc, Stebler, Yanik, Kaelin, Alain, Romero, Irene, Schüpbach, Michael, Zaugg, Sabine Weber, Esposito, Federica, Good, Jean-Marc, Paus, Karin, Vingerhoets, Francoi, 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, Rickards, Hugh, Wright, Jan, Coulthard, Elizabeth, Hayward, Beverley, Sieradzan, Kasia, Wright, Abigail, Barker, Roger A., O'Keefe, Deidre, DI Pietro, Anna Gerrtiz, Fisher, Kate, Goodman, Anna, Hill, Susan, Mason, Sarah, Swain, Rachel, Guzman, Natalie Valle, Busse, Monica, Butcher, Cynthia, Dunnett, Stephen, Clenaghan, Catherine, Fullam, Ruth, Hunt, Sarah, Jones, Una, Khalil, Hanan, Minster, Sara, Owen, Michael, Price, Kathleen, Townhill, Jenny, Rosser, Anne, Goudie, David, Buchanan, Lindsay, McFadyen, Paula, Tonner, Alison, Taylor, Anne-Marie, Edwards, Maureen, Ho, Carrie, McGill, Marie, Porteous, Mary, Pearson, Pauline, Irvine, Sarah, Brockie, Peter, Foster, Jillian, Johns, Nicola, McKenzie, Sue, Rothery, Jean, Thomas, Gareth, Yates, Shona, Deith, Catherine, Ireland, Jane, Ritchie, Stuart, Burrows, Liz, Fletcher, Amy, Harding, Alison, Laver, Fiona, Silva, Mark, Thomson, Aileen, Chu, Carol, Evans, Carole, Gallentree, Deena, Hamer, Stephanie, Kraus, Alison, Markova, Ivana, Raman, Ashok, Andrew, Alyson, Frost, Julie, Noad, Rupert, Hobson, Emma, Jamieson, Stuart, Longthorpe, Mandy, Musgrave, Hannah, Peacy, Caroline, Rowett, Liz, Toscano, Jean, Wild, Sue, Yardumian, Pam, Clayton, Carole, DIpple, Heather, Freire-Patino, Dawn, Hallam, Caroline, Middleton, Julia, Alusi, Sundu, Davies, Rhy, 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, 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, Thoma, Wild, Edward, Arran, Natalie, Bek, Judith, Callaghan, Jenny, Craufurd, David, Hare, Marianne, Howard, Liz, Huson, Susan, Johnson, Liz, Jones, Mary, Krishnamoorthy, Ashok, Murphy, Helen, Oughton, Emma, Partington-Jones, Lucy, Rogers, Dawn, Sollom, Andrea, Snowden, Julie, Stopford, Cheryl, Thompson, Jennifer, Trender-Gerhard, Iri, Verstraelen, Nicola, Westmoreland, Leann, Cass, Ginette, Davidson, Lynn, Davison, Jill, Komati, Suresh, McDonnell, Sharon, Mohammed, Zeid, Morgan, Karen, Savage, Loi, Singh, Baldev, Wood, Josh, Knight, Caroline, O'Neill, Mari, Das Purkayastha, Debasish, Nemeth, Andrea H, Siuda, Gill, Valentine, Ruth, Armstrong, Richard, Harrison, David, Hughes, Max, Large, Sandra, Donovan, John O, Palmer, Amy, Parkinson, Andrew, Soltysiak, Beverley, Timings, Leanne, Williams, Josh, Burn, John, Weekes, Rebecca, Craven, Janet, Bailey, Wendy, Coleman, Caroline, Haig-Brown, DIane, Simpson, Steve, Majeed, Tahir, Bandmann, Oliver, Bradbury, Alyson, Fairtlough, Helen, Fillingham, Kay, Foustanos, Isabella, Gill, Paul, Kazoka, Mbombe, O'Donovan, Kirsty, Nevitt, Louise, Peppa, Nadia, Quarrell, Oliver, Taylor, Cat, Tidswell, Katherine, Agarwal, Veena, Anderson, Mary, Gunner, Kerry, Harris, Kayla, Hayward, Elaine, Heywood, Melanie, Keys, Liane, MacKinnon, Lesley, Kipps, Christopher, Smalley, Sarah, Bethwaite, Pamela, Edwards, Rachel, Fuller, Kathleen, Gowers, Lesley, Phillips, Michelle, Powell, Kingsley, Biunno, Ida, Bronzova, Juliana, Giuliano, Joe, Handley, Olivia J., Illarioshkin, Sergey, Illmann, Torsten, Levey, Jamie, McLean, Tim, Koivisto, Susana Pro, Päivärinta, Markku, Uhrova, Tereza, Betz, Sabrina, Come, Adrien, Capodarca, Selene, Charpentier, Sébastien, Da Silva, Wildson Vieira, DI Renzo, Martina, Finisterra, Ana Maria, Genoves, Camille, Gilling, Mette, Hvalstedt, Carina, Koppers, Kerstin, Lamanna, Claudia, Laurá, Matilde, Münkel, Kristina, Mütze, Lisanne, Oehmen, Martin, Padieu, Helene, Paterski, Laurent, Rindal, Beate, Røren, Niini, Šašinková, Pavla, Seliverstov, Yury, Timewell, Erika, Witjes-Ané, Marie-Noelle, Yudina, Elizaveta, Zielonka, Eugeniusz, Mcnulty, Paul, Hannequin, Didier, Diercks, Gabriele, Dressler, Dirk, Difruscolo, Olimpia, Van Hout, Monique S. E., Van Vugt, Jeroen P. P., Van Den Bogaard, Simon J. A., Hart'T, Ellen P., Roos, Raymund A. C., Dias, Margarida, Diéguez, Esther, Mcfadyen, Paula, Mcgill, Marie, Mckenzie, Sue, Dipple, Heather, Mcentagart, Meriel, Mcdonnell, Sharon, Haig-Brown, Diane, Mackinnon, Lesley, and Mclean, Tim
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Adult ,Male ,Adolescent ,Huntington's disease ,cancer ,neurodegeneration ,trinucleotide repeat ,Cellular and Molecular Neuroscience ,Young Adult ,Neoplasms ,Trinucleotide repeat ,Humans ,Genetic Predisposition to Disease ,Prospective Studies ,Registries ,Age of Onset ,Neurodegeneration ,Child ,Aged ,Cancer ,Aged, 80 and over ,Huntingtin Protein ,Incidence ,Infant, Newborn ,Infant ,Middle Aged ,Europe ,Settore MED/26 - NEUROLOGIA ,Huntington Disease ,Huntington’s disease ,Child, Preschool ,Female ,Neurology (clinical) ,Trinucleotide Repeat Expansion - Abstract
Background: People with Huntington's disease (HD) have been observed to have lower rates of cancers. Objective: To investigate the relationship between age of onset of HD, CAG repeat length, and cancer diagnosis. Methods: Data were obtained from the European Huntington's disease network REGISTRY study for 6540 subjects. Population cancer incidence was ascertained from the GLOBOCAN database to obtain standardised incidence ratios of cancers in the REGISTRY subjects. Results: 173/6528 HD REGISTRY subjects had had a cancer diagnosis. The age-standardised incidence rate of all cancers in the REGISTRY HD population was 0.26 (CI 0.22-0.30). Individual cancers showed a lower age-standardised incidence rate compared with the control population with prostate and colorectal cancers showing the lowest rates. There was no effect of CAG length on the likelihood of cancer, but a cancer diagnosis within the last year was associated with a greatly increased rate of HD onset (Hazard Ratio 18.94, p < 0.001). Conclusions: Cancer is less common than expected in the HD population, confirming previous reports. However, this does not appear to be related to CAG length in HTT. A recent diagnosis of cancer increases the risk of HD onset at any age, likely due to increased investigation following a cancer diagnosis.
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- 2018
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69. Efficacy of exome-targeted capture sequencing to detect mutations in known cerebellar ataxia genes
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Coutelier, Marie, Hammer, Monia B., Stevanin, Giovanni, Monin, Marie-Lorraine, Davoine, Claire-Sophie, Mochel, Fanny, Labauge, Pierre, Ewenczyk, Claire, Ding, Jinhui, Gibbs, J. Raphael, Hannequin, Didier, Melki, Judith, Toutain, Annick, Laugel, Vincent, Forlani, Sylvie, Charles, Perrine, Broussolle, Emmanuel, Thobois, Stéphane, Afenjar, Alexandra, Anheim, Mathieu, Calvas, Patrick, Castelnovo, Giovanni, De Broucker, Thomas, Vidailhet, Marie, Moulignier, Antoine, Ghnassia, Robert T., Tallaksen, Chantal, Mignot, Cyril, Goizet, Cyril, Le Ber, Isabelle, Ollagnon-Roman, Elisabeth, Pouget, Jean, Brice, Alexis, Singleton, Andrew, Durr, Alexandra, Belarabi, Soraya, Hamri, Abdelmadjid, Tazir, Meriem, Boesch, Sylvia, Pandolfo, Massimo, Ullmann, Urielle, Jardim, Laura, Guergueltcheva, Velina, Tournev, Ivalo, Soong, Bing-Wen, Linarès, Olga Lucia Pedraza, Nielsen, Jørgen E., Svenstrup, Kirsten, Zaki, Maha, Azulay, Jean-Philippe, Banneau, Guillaume, Boesfplug-Tanguy, Odile, Burgo, Andrea, Cazeneuve, Cécile, Darios, Frédéric, Depienne, Christel, Duyckaerts, Charles, Fontaine, Bertrand, Hazan, Jamilé, Koenig, Michel, Marelli, Cecilia, N'Guyen, Karine, Rodriguez, Diana, Sittler, Annie, Verny, Christophe, Bauer, Peter, Schöls, Lüdger, Schüle, Rebecca, Koutsis, Georgios, Lossos, Alexander, Antenora, Antonella, Bassi, Maria Teresa, Basso, Manuela, Bertini, Enrico, Brusco, Alfredo, Casali, Carlo, Casari, Giorgio, Criscuolo, Chiara, Filla, Alessandro, Lieto, Maria, Orsi, Laura, Santorelli, Filippo M., Valente, Enza Maria, Vavla, Marinela, Vazza, Giovanni, Megarbane, André, Benomar, Ali, Roxburgh, Richard, Erichsen, Anne Kjersti, Alonso, Isabel, Coutinho, Paula, Loureiro, José Léal, Sequeiros, Jorge, Salih, Mustapha, Kostic, Vladimir S., Axpe, Idoia Rouco, Roumani, Samir, Kremer, Berry, Van Roon-Mom, Willeke, Boukhris, Amir, Mhiri, Chokri, Karabay, Arzu, Nethisinghe, Suran, Okane, Cahir, Oliva, Megan, Reid, Evan, Warner, Thomas, Wood, Nicholas, École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL), Département de neurologie [Montpellier], Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Gui de Chauliac [Montpellier]-Université de Montpellier (UM), Université de Montpellier (UM), Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), University of New Haven [Connecticut], Service de neurologie [Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU), Hôpital Bicêtre, Université Paris-Sud - Paris 11 (UP11)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Bicêtre, Service de génétique [Tours], Centre Hospitalier Régional Universitaire de Tours (CHRU Tours)-Hôpital Bretonneau, CHU Strasbourg, Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg (UNISTRA), Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Hôpital neurologique et neurochirurgical Pierre Wertheimer [CHU - HCL], Hospices Civils de Lyon (HCL), Institut des sciences cognitives Marc Jeannerod - Centre de neuroscience cognitive - UMR5229 (CNC), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS), CHU Toulouse [Toulouse], Hôpital Universitaire Carémeau [Nîmes] (CHU Nîmes), Centre Hospitalier Universitaire de Nîmes (CHU Nîmes), Service de génétique médicale, Université de Bordeaux (UB)-CHU Bordeaux [Bordeaux]-Groupe hospitalier Pellegrin, Hôpital de la Croix-Rousse [CHU - HCL], Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Filière Neuromusculaire (FILNEMUS), UCL - SSS/DDUV/GEHU - Génétique, Hôpital Gui de Chauliac [Montpellier]-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Université Montpellier 1 (UM1)-Université de Montpellier (UM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Hôpital Bretonneau-Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon, Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU), Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Coutelier, Marie, Hammer, Monia B., Stevanin, Giovanni, Monin, Marie-Lorraine, Davoine, Claire-Sophie, Mochel, Fanny, Labauge, Pierre, Ewenczyk, Claire, Ding, Jinhui, Gibbs, J. Raphael, Hannequin, Didier, Melki, Judith, Toutain, Annick, Laugel, Vincent, Forlani, Sylvie, Charles, Perrine, Broussolle, Emmanuel, Thobois, Stéphane, Afenjar, Alexandra, Anheim, Mathieu, Calvas, Patrick, Castelnovo, Giovanni, De Broucker, Thoma, Vidailhet, Marie, Moulignier, Antoine, Ghnassia, Robert T., Tallaksen, Chantal, Mignot, Cyril, Goizet, Cyril, Le Ber, Isabelle, Ollagnon-Roman, Elisabeth, Pouget, Jean, Brice, Alexi, Singleton, Andrew, Durr, Alexandra, Belarabi, Soraya, Hamri, Abdelmadjid, Tazir, Meriem, Boesch, Sylvia, Pandolfo, Massimo, Ullmann, Urielle, Jardim, Laura, Guergueltcheva, Velina, Tournev, Ivalo, Soong, Bing-Wen, Linarès, Olga Lucia Pedraza, Nielsen, Jørgen E., Svenstrup, Kirsten, Zaki, Maha, Azulay, Jean-Philippe, Banneau, Guillaume, Boesfplug-Tanguy, Odile, Burgo, Andrea, Cazeneuve, Cécile, Darios, Frédéric, Depienne, Christel, Duyckaerts, Charle, Fontaine, Bertrand, Hazan, Jamilé, Koenig, Michel, Marelli, Cecilia, N'Guyen, Karine, Rodriguez, Diana, Sittler, Annie, Verny, Christophe, Bauer, Peter, Schöls, Lüdger, Schüle, Rebecca, Koutsis, Georgio, Lossos, Alexander, Antenora, Antonella, Bassi, Maria Teresa, Basso, Manuela, Bertini, Enrico, Brusco, Alfredo, Casali, Carlo, Casari, Giorgio, Criscuolo, Chiara, Filla, Alessandro, Lieto, Maria, Orsi, Laura, Santorelli, Filippo M., Valente, Enza Maria, Vavla, Marinela, Vazza, Giovanni, Megarbane, André, Benomar, Ali, Roxburgh, Richard, Erichsen, Anne Kjersti, Alonso, Isabel, Coutinho, Paula, Loureiro, José Léal, Sequeiros, Jorge, Salih, Mustapha, Kostic, Vladimir S., Axpe, Idoia Rouco, Roumani, Samir, Kremer, Berry, Van Roon-Mom, Willeke, Boukhris, Amir, Mhiri, Chokri, Karabay, Arzu, Nethisinghe, Suran, Okane, Cahir, Oliva, Megan, Reid, Evan, Warner, Thoma, Wood, Nicholas, École Pratique des Hautes Études (EPHE), Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Gui de Chauliac [CHU Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Université de Montpellier (UM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Institut des sciences cognitives Marc Jeannerod - Centre de neuroscience cognitive - UMR5229 (ISC-MJ), and Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)
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0301 basic medicine ,Male ,Candidate gene ,[SDV]Life Sciences [q-bio] ,ataxia, exome sequencing, disease genes, spastic ataxia, oculomotor apraxia ,Gene mutation ,Whole Exome Sequencing ,Cohort Studies ,disease genes ,0302 clinical medicine ,Oculomotor apraxia ,Exome ,Exome sequencing ,Heat-Shock Proteins ,Original Investigation ,oculomotor apraxia ,Nuclear Proteins ,Metalloendopeptidases ,Middle Aged ,3. Good health ,Phenotype ,Female ,medicine.symptom ,RNA Helicases ,Adult ,medicine.medical_specialty ,Ataxia ,Adolescent ,Cerebellar Ataxia ,Nerve Tissue Proteins ,Consanguinity ,03 medical and health sciences ,Young Adult ,Internal medicine ,medicine ,Humans ,Genetic Predisposition to Disease ,Cerebellar ataxia ,business.industry ,ataxia ,DNA Helicases ,Computational Biology ,medicine.disease ,Multifunctional Enzymes ,Cytoskeletal Proteins ,spastic ataxia ,030104 developmental biology ,Mutation ,ATPases Associated with Diverse Cellular Activities ,Calcium Channels ,Neurology (clinical) ,business ,exome sequencing ,030217 neurology & neurosurgery - Abstract
International audience; Importance: Molecular diagnosis is difficult to achieve in disease groups with a highly heterogeneous genetic background, such as cerebellar ataxia (CA). In many patients, candidate gene sequencing or focused resequencing arrays do not allow investigators to reach a genetic conclusion. Objectives: To assess the efficacy of exome-targeted capture sequencing to detect mutations in genes broadly linked to CA in a large cohort of undiagnosed patients and to investigate their prevalence. Design, Setting, and Participants: Three hundred nineteen index patients with CA and without a history of dominant transmission were included in the this cohort study by the Spastic Paraplegia and Ataxia Network. Centralized storage was in the DNA and cell bank of the Brain and Spine Institute, Salpetriere Hospital, Paris, France. Patients were classified into 6 clinical groups, with the largest being those with spastic ataxia (ie, CA with pyramidal signs [n = 100]). Sequencing was performed from January 1, 2014, through December 31, 2016. Detected variants were classified as very probably or definitely causative, possibly causative, or of unknown significance based on genetic evidence and genotype-phenotype considerations. Main Outcomes and Measures: Identification of variants in genes broadly linked to CA, classified in pathogenicity groups. Results: The 319 included patients had equal sex distribution (160 female [50.2%] and 159 male patients [49.8%]; mean [SD] age at onset, 27.9 [18.6] years). The age at onset was younger than 25 years for 131 of 298 patients (44.0%) with complete clinical information. Consanguinity was present in 101 of 298 (33.9%). Very probable or definite diagnoses were achieved for 72 patients (22.6%), with an additional 19 (6.0%) harboring possibly pathogenic variants. The most frequently mutated genes were SPG7 (n = 14), SACS (n = 8), SETX (n = 7), SYNE1 (n = 6), and CACNA1A (n = 6). The highest diagnostic rate was obtained for patients with an autosomal recessive CA with oculomotor apraxia-like phenotype (6 of 17 [35.3%]) or spastic ataxia (35 of 100 [35.0%]) and patients with onset before 25 years of age (41 of 131 [31.3%]). Peculiar phenotypes were reported for patients carrying KCND3 or ERCC5 variants. Conclusions and Relevance: Exome capture followed by targeted analysis allows the molecular diagnosis in patients with highly heterogeneous mendelian disorders, such as CA, without prior assumption of the inheritance mode or causative gene. Being commonly available without specific design need, this procedure allows testing of a broader range of genes, consequently describing less classic phenotype-genotype correlations, and post hoc reanalysis of data as new genes are implicated in the disease.
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- 2018
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70. Molecular Screening of 980 Cases of Suspected Hereditary Optic Neuropathy with a Report on 77 Novel OPA1 Mutations
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Ferré, Marc, Bonneau, Dominique, Milea, Dan, Chevrollier, Arnaud, Verny, Christophe, Dollfus, Hélène, Ayuso, Carmen, Defoort, Sabine, Vignal, Catherine, Zanlonghi, Xavier, Charlin, Jean-Francois, Kaplan, Josseline, Odent, Sylvie, Hamel, Christian P., Procaccio, Vincent, Reynier, Pascal, and Amati-Bonneau, Patrizia
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- 2009
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71. Arithmetic word-problem-solving in Huntington’s disease
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Allain, Philippe, Verny, Christophe, Aubin, Ghislaine, Pinon, Karine, Bonneau, Dominique, Dubas, Frédéric, and Gall, Didier Le
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- 2005
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72. Hereditary amyloid neuropathy by transthyretin Val107 mutation in a patient of African origin
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Cassereau, Julien, Lavigne, Christian, Letournel, Franck, Ghali, Alaa, Verny, Christophe, Dubas, Frédéric, Devière, Franck, and Nicolas, Guillaume
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- 2008
73. Language processing within the striatum: evidence from a PET correlation study in Huntingtonʼs disease
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Teichmann, Marc, Gaura, Véronique, Démonet, Jean-François, Supiot, Frédéric, Delliaux, Marie, Verny, Christophe, Renou, Pierre, Remy, Philippe, and Bachoud-Lévi, Anne-Catherine
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- 2008
74. Heterozygosity for a Single Mutation in the ABCC6 Gene May Closely Mimic PXE: Consequences of This Phenotype Overlap for the Definition of PXE
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Martin, Ludovic, Maître, Frédéric, Bonicel, Pierre, Daudon, Patrick, Verny, Christophe, Bonneau, Dominique, Le Saux, Olivier, and Chassaing, Nicolas
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- 2008
75. OPA1 mutations induce mitochondrial DNA instability and optic atrophy ‘plus’ phenotypes
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Amati-Bonneau, Patrizia, Valentino, Maria Lucia, Reynier, Pascal, Gallardo, Maria Esther, Bornstein, Belén, Boissière, Anne, Campos, Yolanda, Rivera, Henry, de la Aleja, Jesús González, Carroccia, Rosanna, Iommarini, Luisa, Labauge, Pierre, Figarella-Branger, Dominique, Marcorelles, Pascale, Furby, Alain, Beauvais, Katell, Letournel, Franck, Liguori, Rocco, La Morgia, Chiara, Montagna, Pasquale, Liguori, Maria, Zanna, Claudia, Rugolo, Michela, Cossarizza, Andrea, Wissinger, Bernd, Verny, Christophe, Schwarzenbacher, Robert, Martín, Miguel Ángel, Arenas, Joaqun, Ayuso, Carmen, Garesse, Rafael, Lenaers, Guy, Bonneau, Dominique, and Carelli, Valerio
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- 2008
76. Is multidetector CT-scan able to detect T3a renal tumor before surgery?
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Caillaud, Marie, Laisney, Mickaël, Bejanin, Alexandre, Scherer-Gagou, Clarisse, Duclos, Harmony, Eustache, Francis, Desgranges, Béatrice, Allain, Philippe, Cassereau, Julien, Chevrollier, Arnaud, Codron, Philippe, Goizet, Cyril, Gueguen, Naïg, Verny, Christophe, Chabrun, Floris, Dieu, Xavier, Rousseau, Guillaume, Chupin, Stéphanie, Letournel, Franck, Procaccio, Vincent, Bonneau, Dominique, Lenaers, Guy, Simard, Gilles, Mirebeau-Prunier, Delphine, Chao de La Barca, Juan Manuel, Reynier, Pascal, Renard, Anne Sophie, Nedelcu, Cosmina, Paisant, Anita, Saulnier, Patrick, Le Bigot, Jérôme, Azzouzi, Abdel Rahmene, Bigot, Pierre, Aubé, Christophe, Physiopathologie Cardiovasculaire et Mitochondriale (MITOVASC), and Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)
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Adult ,Male ,medicine.medical_specialty ,Urology ,[SDV]Life Sciences [q-bio] ,030232 urology & nephrology ,030204 cardiovascular system & hematology ,Multidetector ct ,Sensitivity and Specificity ,Adipose capsule of kidney ,03 medical and health sciences ,0302 clinical medicine ,Renal cell carcinoma ,Predictive Value of Tests ,Multidetector computed tomography ,Multidetector Computed Tomography ,medicine ,Humans ,Venous Invasion ,Carcinoma, Renal Cell ,Sinus (anatomy) ,ComputingMilieux_MISCELLANEOUS ,Aged ,Neoplasm Staging ,Retrospective Studies ,Aged, 80 and over ,business.industry ,Reproducibility of Results ,Renal tumor ,Middle Aged ,medicine.disease ,Kidney Neoplasms ,medicine.anatomical_structure ,Nephrology ,Preoperative Period ,Female ,Radiology ,Renal vein ,business - Abstract
Objective: To evaluate the diagnostic accuracy of multidetector Computed Tomography (MDCT) in predicting T3a renal cell carcinoma (RCC).Materials and methods: Preoperative MDCT of 96 patients with 100 pathologically proven RCC were assessed by two radiologists focusing on the presence of peritumoral fat, sinus fat or venous invasion for cT3a staging. Nature of tumor margins and the presence of peritumoral neovessels were also evaluated, as the influence of perinephric soft-tissue stranding in the interpretation of peritumoral fat.Results: Sensitivity for the identification of peritumoral fat, sinus fat or renal vein invasion was 77%, 86% and 86%, and specificity was 72%, 88% and 97%, respectively. Sensitivity and specificity in the prediction of T3a tumors were 72% and 70% respectively (κ score = 0.38 (0.29-0.47)). Among the 38 pT3 tumors, 6 (16%) were under-staged, and the neovessels and irregular tumor edge as secondary CT signs did not significantly increase the accuracy of the prediction of local invasion. Among the 62 confined tumors, 17 (27%) were over-staged as cT3 and among these 17 false positives cases, perinephric soft-tissue stranding was present in 14 cases.Conclusion: MDCT provides good results in detecting sinus fat, venous invasion and kidney-confined tumors, but evaluation of perinephric fat remains a difficult task, leading to reduced accuracy in T3a staging.
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- 2019
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77. A Case of Type I Sialidosis With Osteonecrosis Revealing a New Mutation in NEU1
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Urbanski,Geoffrey, Bekri,Soumeya, Barth,Magalie, Verny,Christophe, and Lavigne,Christian
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NEUI ,sialidosis ,bone involvement - Abstract
Sialidosis is a rare lysosomal storage disease. The 2 forms described are as follows: the early-onset form, or type II, presents with dysostosis multiplex, while the late-onset form, or type I, does not involve bone in the literature. We report the case of a 42-year-old woman with type I sialidosis who presents with osteonecrosis of both humeral and femoral heads. Molecular study reveals a never listed mutation of NEU1 in exon 5, p.Gly273Asp (c.818G>A), and a second known missense mutation.
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- 2019
78. Biallelic MYORG mutation carriers exhibit primary brain calcification with a distinct phenotype
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Grangeon, Lou, Charbonnier, Camille, Quenez, Olivier, Rousseau, Stéphane, Budowski, Clara, Corbillé, Anne-Gaëlle, Antoine, Jean-Christophe, Clanet, Michel, Rovelet-Lecrux, Anne, Boland, Anne, Deleuze, Jean-François, Favrole, Pascal, Verny, Christophe, Krystkowiak, Pierre, Chamard, Ludivine, Moutton, Sébastien, Goizet, Cyril, Ferec, Claude, Timsit, Serge, Schaeffer, Stéphane, Derache, Nathalie, Defer, Gilles, Durif, Franck, Sellal, François, Rouaud, Olivier, Thauvin-Robinet, Christel, Cubizolle, Stéphanie, Sauvée, Mathilde, Leblanc, Amélie, Demas, Alexis, POISSON, Alice, Tournier-Lasserve, Elisabeth, Hervé, Dominique, Chabriat, Hugues, Grolez, Guillaume, Carrière, Nicolas, Defebvre, Luc, Lebouvier, Thibaud, Witjas, Tatiana, Azulay, Jean-Philippe, Fluchère, Frédérique, Didic, Mira, Nguyen, Karine, Charif, Mahmoud, Ayrignac, Xavier, Labauge, Pierre, Lionnet, Caroline, Marelli-Tosi, Cecilia, GAUD, Simon, Rouaud, Tiphaine, Laurens, Brice, Folgoas, Emmanuelle, Isidor, Bertrand, Chiesa, Jean, Pallix-Guyot, Maud, Gaillard, Nicolas, Olivier, Nadège, Jurici, Snejana, Marey, Isabelle, Charles, Perrine, Ewenczyck, Claire, Dürr, Alexandra, Hubsch, Cécile, Méneret, Aurélie, Vidailhet, Marie, Nadjar, Yann, Le Ber, Isabelle, Grabli, David, Roze, Emmanuel, Navarro, Vincent, Mecharles-Darrigol, Sylvie, Lagarde, Julien, Sarazin, Marie, Vérin, Marc, Lefaucheur, Romain, Maltête, David, Wallon, David, Martinaud, Olivier, Guyant-Maréchal, Lucie, Richard, Anne-claire, Guillin, Olivier, Yger, Marion, Anheim, Mathieu, Renaud, Mathilde, Tranchant, Christine, Rudolf, Gabrielle, Cretin, Benjamin, Mallaret, Martial, Pariente, Jérémie, Ory-Magne, Fabienne, Frebourg, Thierry, Hannequin, Didier, Campion, Dominique, Nicolas, Gaël, UNIROUEN - UFR Santé (UNIROUEN UFR Santé), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU), Génomique et Médecine Personnalisée du Cancer et des Maladies Neuropsychiatriques (GPMCND), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut du Fer à Moulin, Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC), Service de Neurologie, CHU Saint-Etienne-Hôpital Bellevue, Hôpital Purpan [Toulouse], CHU Toulouse [Toulouse], Centre National de Génotypage (CNG), Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Biologie Neurovasculaire Intégrée (BNVI), Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université d'Angers (UA), Service de neurochirurgie générale et stéréotaxique fonctionnelle, Hôpital Roger Salengro-Université de Lille, Droit et Santé-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Centre Mémoire de Ressources et de Recherche - CMRR [Besançon] (CMRR), Centre Hospitalier Régional Universitaire [Besançon] (CHRU Besançon), Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Service de génétique médicale, Université de Bordeaux (UB)-CHU Bordeaux [Bordeaux]-Groupe hospitalier Pellegrin, Génétique moléculaire et génétique épidémiologique, Université de Brest (UBO)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Neurologie [Brest], Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN), Service de Neurologie [CHU Caen], Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), Service de neurologie, Hôpital Gabriel Montpied, Hôpital pasteur [Colmar], Université Montpellier 1 (UM1)-Hôpital Guy de Chauliac-Centre Mémoire Ressources Recherche Languedoc - Roussillon, Centre Hospitalier Universitaire [Grenoble] (CHU), Hôpital d'Instruction des Armées 'Clermont-Tonnerre' (HIA), Institut des sciences cognitives Marc Jeannerod - Centre de neuroscience cognitive - UMR5229 (CNC), Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon, Genetique des Maladies Vasculaires, Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Gouvernance, Risque, Environnement, Développement (GRED), Université Paul-Valéry - Montpellier 3 (UM3)-Institut de Recherche pour le Développement (IRD [France-Sud])-Institut national d’études supérieures agronomiques de Montpellier (Montpellier SupAgro), Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Service de neurologie et pathologie du mouvement, Hôpital Roger Salengro-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Troubles cognitifs dégénératifs et vasculaires (U1171), INSERM-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille)-Université de Lille, Neuropathies du système nerveux entérique et pathologies digestives, implication des cellules gliales entériques, Université de Nantes (UN)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital de la Timone [CHU - APHM] (TIMONE), Laboratoire de Neurosciences Cognitives [Marseille] (LNC), Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS), Service de neurologie et de neuropsychologie, Université de la Méditerranée - Aix-Marseille 2-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Institut des Neurosciences de Montpellier - Déficits sensoriels et moteurs (INM), Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital Gui de Chauliac, Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Département de neurologie [Montpellier], Hôpital Gui de Chauliac [Montpellier]-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Université Montpellier 1 (UM1)-Université de Montpellier (UM), Université de Lorraine (UL), Service de neurologie [Rennes], Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES), Université de Bordeaux (UB), Service de génétique médicale - Unité de génétique clinique [Nantes], Université de Nantes (UN)-Centre hospitalier universitaire de Nantes (CHU Nantes), Centre Hospitalier Régional Universitaire de Nîmes (CHRU Nîmes), Centre Hospitalier Régional d'Orléans (CHR), Service de génétique, cytogénétique, embryologie [Pitié-Salpétrière], Université Pierre et Marie Curie - Paris 6 (UPMC)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Pitié-Salpêtrière [APHP], Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière (CRICM), Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC), CHU Pitié-Salpêtrière [APHP], Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [APHP]-Centre National de la Recherche Scientifique (CNRS), Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-CHU Pitié-Salpêtrière [APHP]-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de neurologie 1 [CHU Pitié-Salpétrière], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Pitié-Salpêtrière [APHP], Fédération des Maladies du Système Nerveux, Laboratoire de neurosciences cognitives et d'imagerie cérébrale (LENA), Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC), Efficience Déficience Motrice [Montpellier] (EDM), Université Montpellier 1 (UM1), Service de neurologie [Rouen], CHU Rouen, Normandie Université (NU), Service des Urgences Cérébro-Vasculaires [CHU Pitié-Salpêtrière]], CHU Pitié-Salpêtrière [APHP]-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), CHU Strasbourg, Département de Neurologie, CHU Strasbourg-Hopital Civil, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA), Laboratoire des sciences de l'ingénieur, de l'informatique et de l'imagerie (ICube), École Nationale du Génie de l'Eau et de l'Environnement de Strasbourg (ENGEES)-Université de Strasbourg (UNISTRA)-Institut National des Sciences Appliquées - Strasbourg (INSA Strasbourg), Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Centre National de la Recherche Scientifique (CNRS)-Matériaux et nanosciences d'Alsace, Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Université de Strasbourg (UNISTRA)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Université de Strasbourg (UNISTRA)-Réseau nanophotonique et optique, Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Université de Strasbourg (UNISTRA), Imagerie cérébrale et handicaps neurologiques, Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut des sciences du cerveau de Toulouse. (ISCT), Université Toulouse - Jean Jaurès (UT2J)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-CHU Toulouse [Toulouse]-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Toulouse - Jean Jaurès (UT2J)-CHU Toulouse [Toulouse]-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), CIC Toulouse, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Département de neurologie [Lille], Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Service de neurologie [Nantes], Université de Nantes (UN)-Centre hospitalier universitaire de Nantes (CHU Nantes)-Hôpital Guillaume-et-René-Laennec [Saint-Herblain], Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg (UNISTRA), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Service de Neurologie [Aix-en-Provence], Centre Hospitalier du Pays d'Aix, Service de Neurologie [CHU de Saint-Étienne], Centre Hospitalier Universitaire de Saint-Etienne [CHU Saint-Etienne] (CHU ST-E)-Université Jean Monnet - Saint-Étienne (UJM), Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Gui de Chauliac [CHU Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Université de Montpellier (UM), Neurologie Vasculaire [Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Différenciation et communication neuronale et neuroendocrine (DC2N), Institut de Biologie François JACOB (JACOB), Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), ANR-17-CE14-0008,CALCIPHOS,ROLE DE L'EXPORTATEUR DE PHOSPHATE DANS LA CALCIFICATION VASCULAIRE(2017), Département de neurologie[Lille], Université de Lille, Droit et Santé-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [APHP]-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Service de neurologie [CHU de Saint-Étienne], Centre Hospitalier Universitaire de Saint-Etienne (CHU de Saint-Etienne), Laboratoire de Neurosciences Fonctionnelles et Pathologies, Hôpital Roger Salengro-PRES Université Lille Nord de France-EA 4559/1046-Université de Lille, Droit et Santé, Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-CHU Toulouse [Toulouse]-Hôpital de Rangueil, Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Laboratoire de Neurosciences Fonctionnelles et Pathologies - UR UPJV 4559 (LNFP), Université de Picardie Jules Verne (UPJV), Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Gui de Chauliac [Montpellier]-Université de Montpellier (UM), and Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille)
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0301 basic medicine ,Proband ,Adult ,Male ,Pathology ,medicine.medical_specialty ,Heterozygote ,Glycoside Hydrolases ,[SDV]Life Sciences [q-bio] ,PDGFRB ,medicine.disease_cause ,Nervous System Malformations ,MESH: phenotype, computed tomography, mutation, genes, pons, brain, autosomal recessive inheritance, cerebellar atrophy, calcification ,03 medical and health sciences ,Young Adult ,0302 clinical medicine ,medicine ,Humans ,ComputingMilieux_MISCELLANEOUS ,Mutation ,Brain Diseases ,PDGFB ,business.industry ,Brain ,Calcinosis ,Middle Aged ,medicine.disease ,Penetrance ,3. Good health ,Pedigree ,030104 developmental biology ,Phenotype ,Cerebellar atrophy ,Female ,Neurology (clinical) ,Age of onset ,business ,Xenotropic and Polytropic Retrovirus Receptor ,030217 neurology & neurosurgery ,Calcification - Abstract
International audience; Primary familial brain calcification (PFBC) is a rare neurogenetic disorder with diverse neuropsychiatric expression. Mutations in four genes cause autosomal dominant PFBC: SLC20A2, XPR1, PDGFB and PDGFRB. Recently, biallelic mutations in the MYORG gene have been reported to cause PFBC with an autosomal recessive pattern of inheritance. We screened MYORG in 29 unrelated probands negatively screened for the autosomal dominant PFBC genes and identified 11 families with a biallelic rare or novel predicted damaging variant. We studied the clinical and radiological features of 16 patients of these 11 families and compared them to that of 102 autosomal dominant PFBC patients carrying a mutation in one of the four known autosomal dominant PFBC genes. We found that MYORG patients exhibited a high clinical penetrance with a median age of onset of 52 years (range: 21–62) with motor impairment at the forefront. In particular, dysarthria was the presenting sign in 11/16 patients. In contrast to patients with autosomal dominant PFBC, 12/15 (80%) symptomatic patients eventually presented at least four of the following five symptoms: dysarthria, cerebellar syndrome, gait disorder of any origin, akinetic-hypertonic syndrome and pyramidal signs. In addition to the most severe clinical pattern, MYORG patients exhibited the most severe pattern of calcifications as compared to the patients from the four autosomal dominant PFBC gene categories. Strikingly, 12/15 presented with brainstem calcifications in addition to extensive calcifications in other brain areas (lenticular nuclei, thalamus, cerebellar hemispheres, vermis, ±cortex). Among them, eight patients exhibited pontine calcifications, which were observed in none of the autosomal dominant PFBC patients and hence appeared to be highly specific. Finally, all patients exhibited cerebellar atrophy with diverse degrees of severity on CT scans. We confirmed the existence of cerebellar atrophy by performing MRI voxel-based morphometry analyses of MYORG patients with autosomal dominant PFBC mutation carriers as a comparison group. Of note, in three families, the father carried small pallido-dentate calcifications while carrying the mutation at the heterozygous state, suggesting a putative phenotypic expression in some heterozygous carriers. In conclusion, we confirm that MYORG is a novel major PFBC causative gene and that the phenotype associated with such mutations may be recognized based on pedigree, clinical and radiological features.
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- 2019
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79. Phenotype associated with APP duplication in five families
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Cabrejo, Lucie, Guyant-Maréchal, Lucie, Laquerrière, Annie, Vercelletto, Martine, De La Fournière, François, Thomas-Antérion, Catherine, Verny, Christophe, Letournel, Franck, Pasquier, Florence, Vital, Anne, Checler, Frédéric, Frebourg, Thierry, Campion, Dominique, and Hannequin, Didier
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- 2006
80. Isolated Hornerʼs Syndrome May Herald Stroke
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de Bray, Jean-Michel, Baumgartner, Ralf, Guillon, Benoit, Pautot, Vivien, Dziewas, Rainer, Ringelstein, Erich Bernd, Sturzenegger, Matthias, Garnier, Pierre, Ducrocq, Xavier, Saudeau, Denis, Neau, Jean-Philippe, Larrue, Vincent, Vuillier, Fabrice, Boulliat, Jacques, Verret, Jean-Michel, Verny, Christophe, and Dubas, Frédéric
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- 2005
81. Use of Voxel-Based Morphometry to Measure Striatal Atrophy in Huntington's Disease: WE 352
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Douaud, Gwenaelle, Ribeiro, Maria-Joao, Lethimonnier, Franck, Maroy, Renaud, Verny, Christophe, Krystkowiak, Pierre, Bachoud-Levi, Anne-Catherine, Damier, Philippe, Hantraye, Philippe, and Remy, Philippe
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- 2004
82. Overall mutational spectrum of SLC20A2, PDGFB and PDGFRB in idiopathic basal ganglia calcification
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Nicolas, Gaël, Richard, Anne-Claire, Pottier, Cyril, Verny, Christophe, Durif, Franck, Roze, Emmanuel, Favrole, Pascal, Rudolf, Gabrielle, Anheim, Mathieu, Tranchant, Christine, Frebourg, Thierry, Campion, Dominique, and Hannequin, Didier
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- 2014
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83. Cognitive decline in Huntington's disease expansion gene carriers
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Baake, Verena, Reijntjes, Robert H. A. M., Dumas, Eve M., Thompson, Jennifer C., Roos, Raymund A. C., Bentivoglio, Anna-Rita, Biunno, Ida, Bronzova, Juliana, Dunnett, Stephen B., Frich, Jan, Giuliano, Joe, Illarioshkin, Sergey, Illmann, Torsten, Klempír, Jirí, Landwehrmeyer, G. Bernhard, Levey, Jamie, McLean, Tim, Nielsen, Jørgen E., Päivärinta, Markku, Pålhagen, Sven, Ramos-Arroyo, Maria, Tabrizi, Sarah J., Vandenberghe, Wim, Uhrova, Tereza, Bernard, Tomáš, Betz, Sabrina, Come, Adrien, Capodarca, Selene, Wildson, Sébastien Charpentier, Da Silva, Vieira, Di Renzo, Martina, Finisterra, Ana Maria, Fullam, Ruth, Genoves, Camille, Gilling, Mette, Handley, Olivia J., Hvalstedt, Carina, Koppers, Kerstin, Lamanna, Claudia, Laurà, Matilde, Descals, Asunción Martínez, Münkel, Kristina, Mütze, Lisanne, Oehmen, Martin, Padieu, Helene, Paterski, Laurent, Koivisto, Susana Pro, Rindal, Beate, Røren, Niini, Salgueiro, Ana, Šašinková, Pavla, Timewell, Erika, Van Walsem, Marleen R, Witjes-Ané, Marie-Noelle, Zielonka, Eugeniusz, Bonelli, Raphael M., Hecht, Karen, Herranhof, Brigitte, Holl, 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, Dupuis, Michel, Minet, Cécile, Ribaï, Pascale, Van Paemel, Dominique, Verellen-Dumoulin, Christine, Majerová, Veronika, Roth, Jan, Hartikainen, Paivi, Ollokainen, Mari, Santala, Maire, Eklund, Pia, Hiivola, Heli, Hyppönen, Hannele, Martikainen, Kirsti, 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, Debruxelles, Sabrina, Duché, Charlotte, Goizet, Cyril, Jameau, Laetitia, Lafoucrière, Danielle, Spampinato, Umberto, Couttier, Julien, Debilly, Bérengère, Delaigue, Christine, Durif, Franck, Legendre, Perrine, Loiseau, Sylvie, Ulla, Miguel, Vidal, Tiphaine, Bachoud-Lévi, Anne-Catherine, Badei, Farideh, Boissé, Marie-Françoise, Boudali, Lotfi, De Langavant, Laurent Cleret, Lemoine, Laurie, Morgado, Graca, Youssov, Katia, Annic, Agnès, Barthélémy, Recka, Bruycker, Christelle De, 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-Helene, Manouvrier, Sylvie, Mutez, Eugénie, Peter, Mireille, Plomhause, Lucie, Sablonnière, Bernard, Simonin, Clémence, Tard, Céline, Thibault-Tanchou, Stéphanie, Vuillaume, Isabelle, Bellonet, Marcellin, Benoit, Alexandra, Berrisoul, Hassan, Blin, Stéphanie, Courtin, Françoise, Duru, Cécile, Fasquel, Véronique, Flament, Mélanie, Godefroy, Olivier, Mantaux, Béatrice, Playe, Alicia, Roussel, Martine, Tir, Mélissa, Schüler, Béatrice, Wannepain, Sandrine, Azulay, Jean-Philippe, Chabot, Christelle, Delfini, Marie, Eusebio, Alexandre, Fluchere, Frédérique, Garreau, Christine, Grosjean, Hélène, Guenam, Aicha, Mundler, Laura, Nowak, Marielle, Raseta, Rolland, 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, 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, Pariente, Jérémie, Pierre, Michèle, Rolland, Sandrine, 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, Saft, Carsten, Stamm, Christiane, Lange, Herwig, Maiwald, Robert, 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, Ganos, Christos, Goerendt, Ines, Heinicke, Walburgis, Hidding, Ute, Lewerenz, Jan, Münchau, Alexander, Orth, Michael, Schmalfeld, Jenny, Stubbe, Lars, 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, Barth, Katrin, Buck, Andrea, Connemann, Julia, Ecker, Daniel, Geitner, Carolin, Held, Christine, Kesse, Andrea, Landwehrmeyer, Bernhard, Lezius, Franziska, Nepper, Solveig, Niess, Anke, Schneider, Ariane, Schwenk, Daniela, Süssmuth, Sigurd, Trautmann, Sonja, Vogel, Melanie, Weydt, Patrick, Cormio, Claudia, Difruscolo, Olimpia, Franco, Giovanni, Sciruicchio, Vittorio, Serpino, Claudia, De Tommaso, Marina, Calandra-Buonaura, Giovanna, Capellari, Sabina, Cortelli, Pietro, Gallassi, Roberto, Poda, Roberto, Scaglione, Cesa, 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, Di Poggio, Monica Bandettini, Ferrandes, Giovanna, Mandich, Paola, Marchese, Roberta, Di Maria, Emilio, Albanese, Alberto, Castagliuolo, Simona, Castaldo, Anna, Di Donato, Stefano, Di Bella, Daniela, Gellera, Cinzia, Genitrini, Silvia, Mariotti, Caterina, Monza, Daniela, 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, Guidubaldi, Arianna, Ialongo, Tamara, Loria, Giovanna, Modoni, Anna, Petracca, Martina, Piano, Carla, Chiara, Piccininni, Quaranta, Davide, Soleti, Francesco, Solito, Marcella, Spadaro, Maria, Torlizzi, Flavia, Coarelli, Giulia, Ferraldeschi, Michela, Frontali, Marina, Jacopini, Gioia, Ristori, Giovanni, Romano, Silvia, Zinzi, Paola, Van Hout, Monique S. E., Van Vugt, Jeroen P. P., De Weert, A. Marit, Verhoeven, Marloes, Dekker, Meike, Leenders, Nico, Van Oostrom, Joost, Klooster, Jesper, Kremer, Berry, Van Den Bogaard, Simon J. A., Bos, Reineke, T Hart, Ellen P., Kampstra, Anne, Schoonderbeek, Anne, Duits, Annelien, Oosterloo, Mayke, Waber, Mirella, Blinkenberg, Ellen Økland, Hauge, Erik, Tyvoll, Hilde, Aaserud, Olaf, Aanonsen, Nils Olaf, Bjørgo, Kathrine, Borgeød, Nancy, Dramstad, Elisabeth, Fannemel, Madeleine, Frich, Jan C., Gørvell, Per F., Haggag, Kathrine, Johannessen, Cecilie Haggag, Heiberg, Arvid, Retterstøl, Lars, Røsby, Oddveig, Rummel, Jutta, Sikiric, Alma, Stokke, Bodil, Van Walsem, Marleen, Wehus, Ragnhild, Bjørnevoll, Inga, Sando, Sigrid Botne, Haug, Marte Gjøl, Størseth, Hanna Haugan, Arntsen, Vibeke, Dziadkiewicz, Artur, Konkel, Agnieszka, Narozańska, 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, Duda, Gabriela Kłodowska E., 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, Elzbieta, Wójcik, Magdalena, Wasielewska, Anna, Bryl, Jacek Anioła Anna, Ciesielska, Anna, Klimberg, Aneta, Marcinkowski, Jerzy, Samara, Husam, Sempołowicz, Justyna, Wiśniewski, Bartłomiej, Zielonka, Daniel, Gogol, Anna, Janik, Piotr, Jamrozik, Zygmunt, Kaminska, Anna, Kwiecinski, Hubert, Szejko, Natalia, Antczak, Jakub, Jachinska, Katarzyna, Krysa, Wioletta, Rakowicz, Maryla, Richter, Przemyslaw, Rola, Rafal, Ryglewicz, Danuta, Sienkiewicz-Jarosz, Halina, Stȩpniak, Iwona, Sułek, Anna, Witkowski, Grzegorz, Zaremba, Jacek, Zdzienicka, Elzbieta, Ziora-Jakutowicz, Karolina, Januário, Cristina, Júlio, Filipa, Guedes, Leonor Correia, Coelho, Miguel, Ferreira, Joaquim J., Mestre, Tiago, Mendes, Tiago, Valadas, Anabela, Cação, Gonçalo, Cavaco, Sara, Damásio, Joana, Fernandes, Joana, Loureiro, Rui, Moreira, Inês, Magalhães, Marina, Andrade, Carlos, Costa, Andreia, Garrett, Carolina, Gago, Miguel, Guimarães, Joana, Massano, João, Meireles, Joana, Monteiro, Ana, Herrera, Carmen Duran, Moreno, Patrocinio Garcia, Bas, Jordi, Busquets, Núria, Calopa, Matilde, Classen, Serge Jaumà, Dedichá, Nadia Rodríguez, Buongiorno, María Teresa, De La Cerda Santa María, Andrés, Muñoz, Esteban, Santacruz, Pilar, Barbera, Miquel Aguilar, Sebastián, Ana Rojo, Pardo, Sonia Arribas, Guia, Dolors Badenes, Calzado, Noemi, Hernanz, Laura Casas, Díaz-Zorita, Juan Pablo Tartari, Catena, Judit López, Ferrer, Pilar Quiléz, Carruesco, Gemma Tome, Robert, Misericordia Floriach, Viladrich, Cèlia Mareca, Roca, Elvira, Idiago, Jesús Miguel Ruiz, Riballo, Antonio Villa, Campolongo, Antonia, De Bobadilla, Ramon Fernandez, Bojarsky, Jaime Kulisevsky, Martinez-Horta, Saul, Pagonabarraga, Javier, Perez, Jesus Perez, Ribosa, Roser, Villa, Carolina, Cubo, Esther, Polo, Cecilia Gil, Mariscal, Natividad, Romero, Sandra Gutierrez, Arbelo, José Matías, De Molina, Rocío Malo, Martín, Idaira, Periañez, Juan Manuel, Udaeta, Beatriz, Alonso-Frech, Fernando, Del ValleLoarte, María, Barrero, Francisco, Morales, Blas, Frades, Belén, Villanueva, Marina Ávila, Sevilla, Maria Ascension Zea, Frech, Fernando Alonso, Del Mar Fenollar, María, García, Rocío García-Ramos, Villanueva, Clara, Bascuñana, Mónica, Ventura, Marta Fatás, Caldentey, Juan García, Ribas, Guillermo García, DeYebenes, Justo García, Moreno, José Luis Lópeze-Sendón, Barral, Verónica Mañanes, Cubillo, Patricia Trigo, Feliz, Cici Feliz, Ruíz, Pedro José García, García, Ana, López, Rosa Guerrero, Bárcenas, Antonio Herranz, Martínez-Descals, Asunción, Martin, Veronica Puertas, Martínez, Noelia Rodríguez, Artiga, María José Sainz, Sánchez, Vicenta, Pueyo, Angel Martínez, Del Val Fernandez, Javier, Alarcón, Moreau María Dolores, Almagro, Carmen Antúnez, Dieguez, Esther, Fortuna, Lorenza, Manzanares, Salvadora, Muñoz, Juan Marín, Torres, María Martirio Antequera, Perea, Fuensanta Noguera, Vivancos, Laura, González, Sonia, Guisasola, Luis Menéndez, Prieto, Marta Para, Ribacoba, René, Salvador, Carlos, Lozano, Pablo Sánchez, Gorospe, Aránzazu, Ramirez, Inés Legarda, Arques, Penelope Navas, Lopera, Monica Rodriguez, Pastor, Barbara Vives, Gaston, Itziar, Garcia-Amigot, Fermin, Martinez-Jaurrieta, Maria Dolores, Ramos-Arroyo, Maria Antonia, Hermoso, Fátima Damas, Moreno, José Manuel García, Lucena, Carolina Mendez, Cortegana, Eva María Pacheco, Peña, José Chacón, Redondo, Luis, Sánchez, Violeta Sánchez, Bosca, Maria, Burguera, Juan Andres, Vilaplana, Francisco Castera Brugada Carmen Peiró, Solís, Pilar, Figuerola, Begoña Jeweinat, Palanca, Paloma Millan, Berglund, Maria, Berglund, Peter, Constantinescu, Radu, Fredlund, Gunnel, Høsterey-Ugander, Ulrika, Lewin, Kajsa, Linnsand, Petra, Neleborn-Lingefjärd, Liselotte, Wahlström, Jan, Petersén, Åsa, Reimer, Jan, Widner, Håkan, Berglund, Måns, Loutfi, Ghada, Olofsson, Carina, Stattin, Eva-Lena, Westman, Laila, Wikström, Birgitta, Ekwall, Camilla, Göller, Marie-Lousie, Niemelä, Valter, Sundblom, Jimmy, Burgunder, Jean-Marc, Stebler, Yanik, Kaelin, Alain, Romero, Irene, Schüpbach, Michael, Zaugg, Sabine Weber, 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, Akhtar, Shahbana, Crooks, Jenny, Curtis, Adrienne, De Souza, Jenny, Piedad, John, Rickards, Hugh, Wright, Jan, Coulthard, Elizabeth, Gethin, Louise, Hayward, Beverley, Sieradzan, Kasia, Wright, Abigail, Barker, Roger A., O'Keefe, Deidre, Gerrtiz, 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, Minster, Sara, Owen, Michael, Price, Kathleen, Townhill, Jenny, Rosser, Anne, Goudie, David, Buchanan, Lindsay, McFadyen, Paula, Tonner, Alison, Taylor, Anne-Marie, Edwards, Maureen, Ho, Carrie, McGill, Marie, Porteous, Mary, Pearson, Pauline, Harrower, Timothy, Irvine, Sarah, Brockie, Peter, Foster, Jillian, Johns, Nicola, McKenzie, Sue, Rothery, Jean, Thomas, Gareth, Yates, Shona, Deith, Catherine, Ireland, Jane, Ritchie, Stuart, Brown, Pauline, Burrows, Liz, Fletcher, Amy, Harding, Alison, Laver, Fiona, Silva, Mark, Thomson, Aileen, Chu, Carol, Evans, Carole, Gallentree, Deena, Hamer, Stephanie, Kraus, Alison, Markova, Ivana, Raman, Ashok, Cosgrove, Jeremy, Gallantree, Deena, Hobson, Emma, Jamieson, Stuart, Longthorpe, Mandy, Musgrave, Hannah, Peacy, Caroline, Rowett, Liz, Toscano, Jean, Wild, Sue, Yardumian, Pam, Clayton, Carole, Dipple, Heather, Freire-Patino, Dawn, Hallam, Caroline, Middleton, Julia, 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, 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, Arran, Natalie, Bek, Judith, Callaghan, Jenny, Craufurd, David, Hare, Marianne, Howard, Liz, Huson, Susan, Johnson, Liz, Jones, Mary, Krishnamoorthy, Ashok, Murphy, Helen, Oughton, Emma, Partington-Jones, Lucy, Rogers, Dawn, Sollom, Andrea, Snowden, Julie, Stopford, Cheryl, Thompson, Jennifer, Trender-Gerhard, Iris, Verstraelen, 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, Das Purkayastha, Debasish, 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, Majeed, Tahir, Verstraelen, Nicola, Bandmann, Oliver, Bradbury, Alyson, Fairtlough, Helen, Fillingham, Kay, Foustanos, Isabella, Gill, Paul, Kazoka, Mbombe, O'Donovan, Kirsty, Nevitt, Louise, Peppa, Nadia, Quarrell, Oliver, Taylor, Cat, Tidswell, Katherine, Gowers, Lesley, Powell, Kingsley, Bethwaite, Pamela, Edwards, Rachel, Fuller, Kathleen, Phillips, Michelle, Tan, Louis, Lau, Puay Ngoh, Pica, Emmanuel, Baake, Verena, Reijntjes, Robert H. A. M., Dumas, Eve M., Thompson, Jennifer C., Roos, Raymund A. C., Bentivoglio, Anna-Rita, Biunno, Ida, Bronzova, Juliana, Dunnett, Stephen B., Frich, Jan, Giuliano, Joe, Illarioshkin, Sergey, Illmann, Torsten, Klempír, Jirí, Landwehrmeyer, G. Bernhard, Levey, Jamie, Mclean, Tim, Nielsen, Jørgen E., Päivärinta, Markku, Pålhagen, Sven, Ramos-Arroyo, Maria, Tabrizi, Sarah J., Vandenberghe, Wim, Uhrova, Tereza, Bernard, Tomáš, Betz, Sabrina, Come, Adrien, Capodarca, Selene, Wildson, Sébastien Charpentier, Da Silva, Vieira, Di Renzo, Martina, Finisterra, Ana Maria, Fullam, Ruth, Genoves, Camille, Gilling, Mette, Handley, Olivia J., Hvalstedt, Carina, Koppers, Kerstin, Lamanna, Claudia, Laurà, Matilde, Descals, Asunción Martínez, Münkel, Kristina, Mütze, Lisanne, Oehmen, Martin, Padieu, Helene, Paterski, Laurent, Koivisto, Susana Pro, Rindal, Beate, Røren, Niini, Salgueiro, Ana, Šašinková, Pavla, Timewell, Erika, Van Walsem, Marleen R, Witjes-Ané, Marie-Noelle, Zielonka, Eugeniusz, Bonelli, Raphael M., Hecht, Karen, Herranhof, Brigitte, Holl, Anna, Kapfhammer, Hans-Peter, Koppitz, Michael, Lilek, Sabine, Magnet, Marku, 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, Klau, Sprenger, Fabienne, Wenning, Gregor, Ladurner, Gunther, Lilek, Stefan, Sinadinosa, Daniela, Staffen, Wolfgang, Walleczek, Anna Maria, Dupuis, Michel, Minet, Cécile, Ribaï, Pascale, Van Paemel, Dominique, Verellen-Dumoulin, Christine, Majerová, Veronika, Roth, Jan, Hartikainen, Paivi, Ollokainen, Mari, Santala, Maire, Eklund, Pia, Hiivola, Heli, Hyppönen, Hannele, Martikainen, Kirsti, 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, Debruxelles, Sabrina, Duché, Charlotte, Goizet, Cyril, Jameau, Laetitia, Lafoucrière, Danielle, Spampinato, Umberto, Couttier, Julien, Debilly, Bérengère, Delaigue, Christine, Durif, Franck, Legendre, Perrine, Loiseau, Sylvie, Ulla, Miguel, Vidal, Tiphaine, Bachoud-Lévi, Anne-Catherine, Badei, Farideh, Boissé, Marie-Françoise, Boudali, Lotfi, De Langavant, Laurent Cleret, Lemoine, Laurie, Morgado, Graca, Youssov, Katia, Annic, Agnè, Barthélémy, Recka, Bruycker, Christelle De, Cabaret, Maryline, Carette, Anne-Sophie, Carrière, Nicola, 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-Helene, Manouvrier, Sylvie, Mutez, Eugénie, Peter, Mireille, Plomhause, Lucie, Sablonnière, Bernard, Simonin, Clémence, Tard, Céline, Thibault-Tanchou, Stéphanie, Vuillaume, Isabelle, Bellonet, Marcellin, Benoit, Alexandra, Berrisoul, Hassan, Blin, Stéphanie, Courtin, Françoise, Duru, Cécile, Fasquel, Véronique, Flament, Mélanie, Godefroy, Olivier, Mantaux, Béatrice, Playe, Alicia, Roussel, Martine, Tir, Mélissa, Schüler, Béatrice, Wannepain, Sandrine, Azulay, Jean-Philippe, Chabot, Christelle, Delfini, Marie, Eusebio, Alexandre, Fluchere, Frédérique, Garreau, Christine, Grosjean, Hélène, Guenam, Aicha, Mundler, Laura, Nowak, Marielle, Raseta, Rolland, Benaich, Sandra, Brice, Alexi, 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, 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-Françoi, Pariente, Jérémie, Pierre, Michèle, Rolland, Sandrine, Kosinski, Christoph Michael, Milkereit, Eva, Probst, Daniela, Reetz, Kathrin, Sass, Christian, Schiefer, Johanne, Schlangen, Christiane, Werner, Cornelius J., Beuth, Marku, Gelderblom, Harald, Priller, Josef, Prüß, Harald, Spruth, Eike, Thiel, Silvia, Andrich, Jürgen, Ellrichmann, Gisa, Herrmann, Lennard, Hoffmann, Rainer, Kaminski, Barbara, Kraus, Peter, Saft, Carsten, Stamm, Christiane, Lange, Herwig, Maiwald, Robert, Bosredon, Cecile, Hunger, Ulrike, Löhle, Matthia, Maass, Antonia, Ossig, Christiana, Schmidt, Simone, Storch, Alexander, Wolz, Annett, Wolz, Martin, Kohl, Zacharia, Kozay, Christina, Winkler, Jürgen, Bergmann, Ulrike, Böringer, Regina, Capetian, Philipp, Kammel, Gerit, Lambeck, Johann, Mächtel, Miriam, Meier, Simone, Rijntjes, Michel, Zucker, Birgit, Boelmans, Kai, Ganos, Christo, Goerendt, Ine, Heinicke, Walburgi, Hidding, Ute, Lewerenz, Jan, Münchau, Alexander, Orth, Michael, Schmalfeld, Jenny, Stubbe, Lar, 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, Matthia, Hofstetter, Nina, Marquard, Ralf, Mühlbäck, Alzbeta, Barth, Katrin, Buck, Andrea, Connemann, Julia, Ecker, Daniel, Geitner, Carolin, Held, Christine, Kesse, Andrea, Landwehrmeyer, Bernhard, Lezius, Franziska, Nepper, Solveig, Niess, Anke, Schneider, Ariane, Schwenk, Daniela, Süssmuth, Sigurd, Trautmann, Sonja, Vogel, Melanie, Weydt, Patrick, Cormio, Claudia, Difruscolo, Olimpia, Franco, Giovanni, Sciruicchio, Vittorio, Serpino, Claudia, De Tommaso, Marina, Calandra-Buonaura, Giovanna, Capellari, Sabina, Cortelli, Pietro, Gallassi, Roberto, Poda, Roberto, Scaglione, Cesa, 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, Di Poggio, Monica Bandettini, Ferrandes, Giovanna, Mandich, Paola, Marchese, Roberta, Di Maria, Emilio, Albanese, Alberto, Castagliuolo, Simona, Castaldo, Anna, Di Donato, Stefano, Di Bella, Daniela, Gellera, Cinzia, Genitrini, Silvia, Mariotti, Caterina, Monza, Daniela, 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, Guidubaldi, Arianna, Ialongo, Tamara, Loria, Giovanna, Modoni, Anna, Petracca, Martina, Piano, Carla, Chiara, Piccininni, Quaranta, Davide, Soleti, Francesco, Solito, Marcella, Spadaro, Maria, Torlizzi, Flavia, Coarelli, Giulia, Ferraldeschi, Michela, Frontali, Marina, Jacopini, Gioia, Ristori, Giovanni, Romano, Silvia, Zinzi, Paola, Van Hout, Monique S. E., Van Vugt, Jeroen P. P., De Weert, A. Marit, Verhoeven, Marloe, Dekker, Meike, Leenders, Nico, Van Oostrom, Joost, Klooster, Jesper, Kremer, Berry, Van Den Bogaard, Simon J. A., Bos, Reineke, T Hart, Ellen P., Kampstra, Anne, Schoonderbeek, Anne, Duits, Annelien, Oosterloo, Mayke, Waber, Mirella, Blinkenberg, Ellen Økland, Hauge, Erik, Tyvoll, Hilde, Aaserud, Olaf, Aanonsen, Nils Olaf, Bjørgo, Kathrine, Borgeød, Nancy, Dramstad, Elisabeth, Fannemel, Madeleine, Frich, Jan C., Gørvell, Per F., Haggag, Kathrine, Johannessen, Cecilie Haggag, Heiberg, Arvid, Retterstøl, Lar, Røsby, Oddveig, Rummel, Jutta, Sikiric, Alma, Stokke, Bodil, Van Walsem, Marleen, Wehus, Ragnhild, Bjørnevoll, Inga, Sando, Sigrid Botne, Haug, Marte Gjøl, Størseth, Hanna Haugan, Arntsen, Vibeke, Dziadkiewicz, Artur, Konkel, Agnieszka, Narozańska, 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, Duda, Gabriela Kłodowska E., 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, Elzbieta, Wójcik, Magdalena, Wasielewska, Anna, Bryl, Jacek Anioła Anna, Ciesielska, Anna, Klimberg, Aneta, Marcinkowski, Jerzy, Samara, Husam, Sempołowicz, Justyna, Wiśniewski, Bartłomiej, Zielonka, Daniel, Gogol, Anna, Janik, Piotr, Jamrozik, Zygmunt, Kaminska, Anna, Kwiecinski, Hubert, Szejko, Natalia, Antczak, Jakub, Jachinska, Katarzyna, Krysa, Wioletta, Rakowicz, Maryla, Richter, Przemyslaw, Rola, Rafal, Ryglewicz, Danuta, Sienkiewicz-Jarosz, Halina, Stȩpniak, Iwona, Sułek, Anna, Witkowski, Grzegorz, Zaremba, Jacek, Zdzienicka, Elzbieta, Ziora-Jakutowicz, Karolina, Januário, Cristina, Júlio, Filipa, Guedes, Leonor Correia, Coelho, Miguel, Ferreira, Joaquim J., Mestre, Tiago, Mendes, Tiago, Valadas, Anabela, Cação, Gonçalo, Cavaco, Sara, Damásio, Joana, Fernandes, Joana, Loureiro, Rui, Moreira, Inê, Magalhães, Marina, Andrade, Carlo, Costa, Andreia, Garrett, Carolina, Gago, Miguel, Guimarães, Joana, Massano, João, Meireles, Joana, Monteiro, Ana, Herrera, Carmen Duran, Moreno, Patrocinio Garcia, Bas, Jordi, Busquets, Núria, Calopa, Matilde, Classen, Serge Jaumà, Dedichá, Nadia Rodríguez, Buongiorno, María Teresa, De La Cerda Santa María, André, Muñoz, Esteban, Santacruz, Pilar, Barbera, Miquel Aguilar, Sebastián, Ana Rojo, Pardo, Sonia Arriba, Guia, Dolors Badene, Calzado, Noemi, Hernanz, Laura Casa, Díaz-Zorita, Juan Pablo Tartari, Catena, Judit López, Ferrer, Pilar Quiléz, Carruesco, Gemma Tome, Robert, Misericordia Floriach, Viladrich, Cèlia Mareca, Roca, Elvira, Idiago, Jesús Miguel Ruiz, Riballo, Antonio Villa, Campolongo, Antonia, De Bobadilla, Ramon Fernandez, Bojarsky, Jaime Kulisevsky, Martinez-Horta, Saul, Pagonabarraga, Javier, Perez, Jesus Perez, Ribosa, Roser, Villa, Carolina, Cubo, Esther, Polo, Cecilia Gil, Mariscal, Natividad, Romero, Sandra Gutierrez, Arbelo, José Matía, De Molina, Rocío Malo, Martín, Idaira, Periañez, Juan Manuel, Udaeta, Beatriz, Alonso-Frech, Fernando, Del ValleLoarte, María, Barrero, Francisco, Morales, Bla, Frades, Belén, Villanueva, Marina Ávila, Sevilla, Maria Ascension Zea, Frech, Fernando Alonso, Del Mar Fenollar, María, García, Rocío García-Ramo, Villanueva, Clara, Bascuñana, Mónica, Ventura, Marta Fatá, Caldentey, Juan García, Ribas, Guillermo García, Deyebenes, Justo García, Moreno, José Luis Lópeze-Sendón, Barral, Verónica Mañane, Cubillo, Patricia Trigo, Feliz, Cici Feliz, Ruíz, Pedro José García, García, Ana, López, Rosa Guerrero, Bárcenas, Antonio Herranz, Martínez-Descals, Asunción, Martin, Veronica Puerta, Martínez, Noelia Rodríguez, Artiga, María José Sainz, Sánchez, Vicenta, Pueyo, Angel Martínez, Del Val Fernandez, Javier, Alarcón, Moreau María Dolore, Almagro, Carmen Antúnez, Dieguez, Esther, Fortuna, Lorenza, Manzanares, Salvadora, Muñoz, Juan Marín, Torres, María Martirio Antequera, Perea, Fuensanta Noguera, Vivancos, Laura, González, Sonia, Guisasola, Luis Menéndez, Prieto, Marta Para, Ribacoba, René, Salvador, Carlo, Lozano, Pablo Sánchez, Gorospe, Aránzazu, Ramirez, Inés Legarda, Arques, Penelope Nava, Lopera, Monica Rodriguez, Pastor, Barbara Vive, Gaston, Itziar, Garcia-Amigot, Fermin, Martinez-Jaurrieta, Maria Dolore, Ramos-Arroyo, Maria Antonia, Hermoso, Fátima Dama, Moreno, José Manuel García, Lucena, Carolina Mendez, Cortegana, Eva María Pacheco, Peña, José Chacón, Redondo, Lui, Sánchez, Violeta Sánchez, Bosca, Maria, Burguera, Juan Andre, Vilaplana, Francisco Castera Brugada Carmen Peiró, Solís, Pilar, Figuerola, Begoña Jeweinat, Palanca, Paloma Millan, Berglund, Maria, Berglund, Peter, Constantinescu, Radu, Fredlund, Gunnel, Høsterey-Ugander, Ulrika, Lewin, Kajsa, Linnsand, Petra, Neleborn-Lingefjärd, Liselotte, Wahlström, Jan, Petersén, Åsa, Reimer, Jan, Widner, Håkan, Berglund, Mån, Loutfi, Ghada, Olofsson, Carina, Stattin, Eva-Lena, Westman, Laila, Wikström, Birgitta, Ekwall, Camilla, Göller, Marie-Lousie, Niemelä, Valter, Sundblom, Jimmy, Burgunder, Jean-Marc, Stebler, Yanik, Kaelin, Alain, Romero, Irene, Schüpbach, Michael, Zaugg, Sabine Weber, 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, Akhtar, Shahbana, Crooks, Jenny, Curtis, Adrienne, De Souza, Jenny, Piedad, John, Rickards, Hugh, Wright, Jan, Coulthard, Elizabeth, Gethin, Louise, Hayward, Beverley, Sieradzan, Kasia, Wright, Abigail, Barker, Roger A., O'Keefe, Deidre, Gerrtiz, 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, Minster, Sara, Owen, Michael, Price, Kathleen, Townhill, Jenny, Rosser, Anne, Goudie, David, Buchanan, Lindsay, Mcfadyen, Paula, Tonner, Alison, Taylor, Anne-Marie, Edwards, Maureen, Ho, Carrie, Mcgill, Marie, Porteous, Mary, Pearson, Pauline, Harrower, Timothy, Irvine, Sarah, Brockie, Peter, Foster, Jillian, Johns, Nicola, Mckenzie, Sue, Rothery, Jean, Thomas, Gareth, Yates, Shona, Deith, Catherine, Ireland, Jane, Ritchie, Stuart, Brown, Pauline, Burrows, Liz, Fletcher, Amy, Harding, Alison, Laver, Fiona, Silva, Mark, Thomson, Aileen, Chu, Carol, Evans, Carole, Gallentree, Deena, Hamer, Stephanie, Kraus, Alison, Markova, Ivana, Raman, Ashok, Cosgrove, Jeremy, Gallantree, Deena, Hobson, Emma, Jamieson, Stuart, Longthorpe, Mandy, Musgrave, Hannah, Peacy, Caroline, Rowett, Liz, Toscano, Jean, Wild, Sue, Yardumian, Pam, Clayton, Carole, Dipple, Heather, Freire-Patino, Dawn, Hallam, Caroline, Middleton, Julia, 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, 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, Thoma, Wild, Edward, Arran, Natalie, Bek, Judith, Callaghan, Jenny, Craufurd, David, Hare, Marianne, Howard, Liz, Huson, Susan, Johnson, Liz, Jones, Mary, Krishnamoorthy, Ashok, Murphy, Helen, Oughton, Emma, Partington-Jones, Lucy, Rogers, Dawn, Sollom, Andrea, Snowden, Julie, Stopford, Cheryl, Thompson, Jennifer, Trender-Gerhard, Iri, Verstraelen, Nichola, Westmoreland, Leann, Cass, Ginette, Davidson, Lynn, Davison, Jill, Fullerton, Neil, Holmes, Katrina, Komati, Suresh, Mcdonnell, Sharon, Mohammed, Zeid, Morgan, Karen, Savage, Loi, Singh, Baldev, Wood, Josh, Knight, Caroline, O'Neill, Mari, Das Purkayastha, Debasish, 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, Majeed, Tahir, Verstraelen, Nicola, Bandmann, Oliver, Bradbury, Alyson, Fairtlough, Helen, Fillingham, Kay, Foustanos, Isabella, Gill, Paul, Kazoka, Mbombe, O'Donovan, Kirsty, Nevitt, Louise, Peppa, Nadia, Quarrell, Oliver, Taylor, Cat, Tidswell, Katherine, Gowers, Lesley, Powell, Kingsley, Bethwaite, Pamela, Edwards, Rachel, Fuller, Kathleen, Phillips, Michelle, Tan, Loui, Lau, Puay Ngoh, and Pica, Emmanuel
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0301 basic medicine ,Adult ,Male ,medicine.medical_specialty ,Heterozygote ,Cognitive Neuroscience ,Experimental and Cognitive Psychology ,Disease ,Huntington's disease ,Cognition ,Longitudinal ,REGISTRY ,Neuropsychological Tests ,Cognitive neuroscience ,Audiology ,Developmental psychology ,03 medical and health sciences ,0302 clinical medicine ,medicine ,Humans ,Cognitive Dysfunction ,Effects of sleep deprivation on cognitive performance ,Cognitive decline ,Aged ,Middle Aged ,medicine.disease ,Settore MED/26 - NEUROLOGIA ,030104 developmental biology ,Huntington Disease ,Neuropsychology and Physiological Psychology ,cognition ,huntington's disease ,longitudinal ,registry ,neuropsychology and physiological psychology ,experimental and cognitive psychology ,cognitive neuroscience ,Disease Progression ,Female ,Neuropsychological Test ,Psychology ,Trinucleotide repeat expansion ,Trinucleotide Repeat Expansion ,030217 neurology & neurosurgery ,Stroop effect ,Human - Abstract
Background: In Huntington's Disease (HD) cognitive decline can occur before unequivocal motor signs become apparent. As cognitive decline often starts early in the course of the disease and has a progressive nature over time, cognition can be regarded as a key target for symptomatic treatment. The specific progressive profile of cognitive decline over time is unknown.Objective: The aim of this study is to quantify the progression of cognitive decline across all HD stages, from pre-motormanifest to advanced HD, and to investigate if CAG length mediates cognitive decline.Methods: In the European REGISTRY study 2669 HD expansion gene carriers underwent annual cognitive assessment. General linear mixed models were used to model the cognitive decline for each cognitive task across all disease stages. Additionally, a model was developed to evaluate the cognitive decline based on CAG length and age rather than disease stage.Results: There was significant cognitive decline on all administered tasks throughout pre-motormanifest (close to estimated disease onset) participants and the subsequent motormanifest participants from stage 1 to stage 4. Performance on the Stroop Word and Stroop Color tests additionally declined significantly across the two pre-motormanifest groups: far and close to estimated disease onset.The evaluation of cognition performance in relation to CAG length and age revealed a more rapid cognitive decline in participants with longer CAG length than participants with shorter CAG length over time.Conclusion: Cognitive performance already shows decline in pre-motormanifest HD gene expansion carriers and gradually worsens to late stage HD. HD gene expansion carriers with certain CAG length have their own cognitive profile, i.e., longer CAG length is associated with more rapid decline.
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- 2017
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84. Specific cognitive theory of mind and behavioral dysfunctions in early manifest Huntington disease: a case report
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Caillaud, Marie, primary, Laisney, Mickael, additional, Bejanin, Alexandre, additional, Scherer-Gagou, Clarisse, additional, Bonneau, Dominique, additional, Duclos, Harmony, additional, Eustache, Francis, additional, Verny, Christophe, additional, Desgranges, Béatrice, additional, and Allain, Philippe, additional
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- 2019
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85. International Guidelines for the Treatment of Huntington's Disease
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Bachoud-Lévi, Anne-Catherine, primary, Ferreira, Joaquim, additional, Massart, Renaud, additional, Youssov, Katia, additional, Rosser, Anne, additional, Busse, Monica, additional, Craufurd, David, additional, Reilmann, Ralf, additional, De Michele, Giuseppe, additional, Rae, Daniela, additional, Squitieri, Ferdinando, additional, Seppi, Klaus, additional, Perrine, Charles, additional, Scherer-Gagou, Clarisse, additional, Audrey, Olivier, additional, Verny, Christophe, additional, and Burgunder, Jean-Marc, additional
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- 2019
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86. Recherche de la mutation JAK2 V617F dans le cadre du bilan étiologique d’un accident vasculaire cérébral : étude rétrospective des pratiques au CHU d’Angers entre 2010 et 2015
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Guillet-Pichon, Virginie, primary, Luque-Paz, Damien, additional, Godard-Ducceschi, Sophie, additional, Verny, Christophe, additional, Ugo, Valérie, additional, and Lecluse, Aldéric, additional
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- 2019
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87. 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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Reilmann, Ralf, primary, McGarry, Andrew, additional, Grachev, Igor D, additional, Savola, Juha-Matti, additional, Borowsky, Beth, additional, Eyal, Eli, additional, Gross, Nicholas, additional, Langbehn, Douglas, additional, Schubert, Robin, additional, Wickenberg, Anna Teige, additional, Papapetropoulos, Spyros, additional, Hayden, Michael, additional, Squitieri, Ferdinando, additional, Kieburtz, Karl, additional, Landwehrmeyer, G Bernhard, additional, Agarwal, Pinky, additional, Anderson, Karen E, additional, Aziz, Nasir A, additional, Azulay, Jean-Phillippe, additional, Bachoud-Levi, Anne C, additional, Barker, Roger, additional, Bebak, Agnieszka, additional, Beuth, Markus, additional, Biglan, Kevin, additional, Blin, Stephanie, additional, Bohlen, Stefan, additional, Bonelli, Raphael, additional, Caldwell, Sue, additional, Calvas, Fabienne, additional, Carlos, Jonielyn, additional, Castagliuolo, Simona, additional, Chong, Terrence, additional, Chua, Phyllis, additional, Coleman, Allison, additional, Corey-Bloom, Jody, additional, Cousins, Rebecca, additional, Craufurd, David, additional, Davison, Jill, additional, Decorte, Eric, additional, De Michele, Giuseppe, additional, Dornhege, Laura, additional, Feigin, Andrew, additional, Gallehawk, Stephanie, additional, Gauteul, Pascale, additional, Gonzales, Carey, additional, Griffith, Jane, additional, Gustov, Alexander, additional, Guttman, Mark, additional, Heim, Beatrix, additional, Heller, Hope, additional, Hjermind, Lena, additional, Illarioshkin, Sergey, additional, Ivanko, Larry, additional, Jaynes, Jessica, additional, Jenckes, Mollie, additional, Kaminski, Barbara, additional, Kampstra, Anne, additional, Konkel, Agnieszka, additional, Kopishinskaya, Svetlana, additional, Krystkowiak, Pierre, additional, Komati, Suresh K, additional, Kwako, Alexander, additional, Lakoning, Stefan, additional, Latipova, Guzal, additional, Leavitt, Blair, additional, Loy, Clement, additional, MacFarlane, Cheryl, additional, Madsen, Louise, additional, Marder, Karen, additional, Mason, Sarah, additional, Mendis, Neila, additional, Mendis, Tilak, additional, Nemeth, Andrea, additional, Nevitt, Louise, additional, Norris, Virginia, additional, O'Neill, Christine, additional, Olivier, Audrey, additional, Orth, Michael, additional, Owens, Ashley, additional, Panegyres, Peter, additional, Perlman, Susan, additional, Preston, Joy, additional, Priller, Josef, additional, Puch, Alicja, additional, Quarrell, Oliver, additional, Ragosta, Domenica, additional, Rialland, Amandine, additional, Rickards, Hugh, additional, Romoli, Anna M, additional, Ross, Christopher, additional, Rosser, Anne, additional, Rudzinska, Monika, additional, Russo, Cinzina V, additional, Saft, Carsten, additional, Segro, Victoria, additional, Seppi, Klaus, additional, Shannon, Barbara, additional, Shprecher, David, additional, Simonin, Clemence, additional, Skitt, Zara, additional, Slawek, Jaroslaw, additional, Soliveri, Paola, additional, Sorbi, Sandro, additional, Suski, Valarie, additional, Stepniak, Iwona, additional, Sungmee, Park, additional, Temirbaeva, Sofia, additional, Testa, Claudia, additional, Torvin-Moller, Anette, additional, Uhl, Stefanie, additional, Vangsted-Hansen, Christina, additional, Verny, Christophe, additional, Wall, Paola, additional, Walker, Francis, additional, Wasserman, Paula, additional, Witkowski, Grzegorz, additional, Wright, Jan, additional, Zalyalova, Zuleykha, additional, and Zielonka, Daniel, additional
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- 2019
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88. A locus-specific database for mutations in GDAP1 allows analysis of genotype-phenotype correlations in Charcot-Marie-Tooth diseases type 4A and 2K
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Cassereau Julien, Chevrollier Arnaud, Bonneau Dominique, Verny Christophe, Procaccio Vincent, Reynier Pascal, and Ferré Marc
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inherited peripheral neuropathy ,Charcot-Marie-Tooth disease (CMT) ,ganglioside-induced differentiation-associated protein 1 (GDAP1) ,locus-specific database (LSDB) ,Medicine - Abstract
Abstract Background The ganglioside-induced differentiation-associated protein 1 gene (GDAP1), which is involved in the Charcot-Marie-Tooth disease (CMT), the most commonly inherited peripheral neuropathy, encodes a protein anchored to the mitochondrial outer membrane. The phenotypic presentations of patients carrying GDAP1 mutations are heterogeneous, making it difficult to determine genotype-phenotype correlations, since the majority of the mutations have been found in only a few unrelated patients. Locus-specific databases (LSDB) established in the framework of the Human Variome Project provide powerful tools for the investigation of such rare diseases. Methods and Results We report the development of a publicly accessible LSDB for the GDAP1 gene. The GDAP1 LSDB has adopted the Leiden Open-source Variation Database (LOVD) software platform. This database, which now contains 57 unique variants reported in 179 cases of CMT, offers a detailed description of the molecular, clinical and electrophysiological data of the patients. The usefulness of the GDAP1 database is illustrated by the finding that GDAP1 mutations lead to primary axonal damage in CMT, with secondary demyelination in the more severe cases of the disease. Conclusion Findings of this nature should lead to a better understanding of the pathophysiology of CMT. Finally, the GDAP1 LSDB, which is part of the mitodyn.org portal of databases of genes incriminated in disorders involving mitochondrial dynamics and bioenergetics, should yield new insights into mitochondrial diseases.
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- 2011
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89. Idebenone increases mitochondrial complex I activity in fibroblasts from LHON patients while producing contradictory effects on respiration
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Angebault Claire, Gueguen Naïg, Desquiret-Dumas Valérie, Chevrollier Arnaud, Guillet Virginie, Verny Christophe, Cassereau Julien, Ferre Marc, Milea Dan, Amati-Bonneau Patrizia, Bonneau Dominique, Procaccio Vincent, Reynier Pascal, and Loiseau Dominique
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Medicine ,Biology (General) ,QH301-705.5 ,Science (General) ,Q1-390 - Abstract
Abstract Background Leber's hereditary optic neuropathy (LHON) is caused by mutations in the complex I subunits of the respiratory chain. Although patients have been treated with idebenone since 1992, the efficacy of the drug is still a matter of debate. Methods We evaluated the effect of idebenone in fibroblasts from LHON patients using enzymatic and polarographic measurements. Results Complex I activity was 42% greater in treated fibroblasts compared to controls (p = 0.002). Despite this complex I activity improvement, the effects on mitochondrial respiration were contradictory, leading to impairment in some cases and stimulation in others. Conclusion These results indicate that idebenone is able to compensate the complex I deficiency in LHON patient cells with variable effects on respiration, indicating that the patients might not be equally likely to benefit from the treatment.
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- 2011
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90. A randomized, double-blind, placebo-controlled trial evaluating cysteamine in Huntington's disease
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Verny, Christophe, Bachoud-Lévi, Anne-Catherine, Dürr, Alexandra, Goizet, Cyril, Azulay, Jean-Philippe, Simonin, Clémence, Tranchant, Christine, Calvas, Fabienne, Krystkowiak, Pierre, Charles, Perrine, Youssov, Katia, Scherer, Clarisse, Prundean, Adriana, Olivier, Audrey, Reynier, Pascal, Saudou, Frédéric, Maison, Patrick, Allain, Philippe, von Studnitz, Erica, Bonneau, Dominique, Group, CYST-HD, Biologie Neurovasculaire et Mitochondriale Intégrée (BNMI), and Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université d'Angers (UA)
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Adult ,Male ,Cysteamine ,Huntington disease ,Middle Aged ,Treatment Outcome ,Double-Blind Method ,Delayed-Action Preparations ,Humans ,Female ,Cystine Depleting Agents ,[SDV.MHEP]Life Sciences [q-bio]/Human health and pathology ,Aged ,Follow-Up Studies - Abstract
International audience; BACKGROUND: Cysteamine has been demonstrated as potentially effective in numerous animal models of Huntington's disease.METHODS: Ninety-six patients with early-stage Huntington's disease were randomized to 1200 mg delayed-release cysteamine bitartrate or placebo daily for 18 months. The primary end point was the change from baseline in the UHDRS Total Motor Score. A linear mixed-effects model for repeated measures was used to assess treatment effect, expressed as the least-squares mean difference of cysteamine minus placebo, with negative values indicating less deterioration relative to placebo.RESULTS: At 18 months, the treatment effect was not statistically significant - least-squares mean difference, -1.5 ± 1.71 (P = 0.385) - although this did represent less mean deterioration from baseline for the treated group relative to placebo. Treatment with cysteamine was safe and well tolerated.CONCLUSIONS: Efficacy of cysteamine was not demonstrated in this study population of patients with Huntington's disease. Post hoc analyses indicate the need for definitive future studies. © 2017 International Parkinson and Movement Disorder Society.
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- 2017
91. Specific cognitive theory of mind and behavioral dysfunctions in early manifest Huntington disease: a case report.
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Caillaud, Marie, Laisney, Mickael, Bejanin, Alexandre, Scherer-Gagou, Clarisse, Bonneau, Dominique, Duclos, Harmony, Eustache, Francis, Verny, Christophe, Desgranges, Béatrice, and Allain, Philippe
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THEORY of mind ,HUNTINGTON disease ,SOCIAL perception ,BEHAVIOR - Abstract
Huntington's disease (HD) is a devastating illness, associated with progressive motor, behavioral and cognitive dysfunctions. However, some studies emphasized that social cognition impairment could occur prior to the onset of these other symptoms. Here, we report the case of a 47 years old patient with early manifest HD, whose complaint was mainly related to the behavioral sphere. He exhibited a significant impairment of Theory of Mind abilities as well as behavioral, and discrete motor symptoms without noticeable cognitive decline. This case study suggests that social cognition impairments and behavioral changes could be in some cases a feature of the disease and may represent a major disability, in early stages of manifest HD. [ABSTRACT FROM AUTHOR]
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- 2020
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92. A Metabolomics Profiling of Glaucoma Points to Mitochondrial Dysfunction, Senescence, and Polyamines Deficiency
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Leruez, Stéphanie, primary, Marill, Alexandre, additional, Bresson, Thomas, additional, de Saint Martin, Grégoire, additional, Buisset, Adrien, additional, Muller, Jeanne, additional, Tessier, Lydie, additional, Gadras, Cédric, additional, Verny, Christophe, additional, Gohier, Philippe, additional, Amati-Bonneau, Patrizia, additional, Lenaers, Guy, additional, Bonneau, Dominique, additional, Simard, Gilles, additional, Milea, Dan, additional, Procaccio, Vincent, additional, Reynier, Pascal, additional, and Chao de la Barca, Juan Manuel, additional
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- 2018
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93. Encéphalite limbique post-herpétique lors d’une grossesse
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Tailland, Marion, primary, Le Verger, Léna, additional, Honnorat, Jérôme, additional, Biquard, Florence, additional, Ricard-Mousnier, Brigitte, additional, Verny, Christophe, additional, and Cassereau, Julien, additional
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- 2018
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94. A Plasma Metabolomic Signature of the Exfoliation Syndrome Involves Amino Acids, Acylcarnitines, and Polyamines
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Leruez, Stéphanie, primary, Bresson, Thomas, additional, Chao de la Barca, Juan M., additional, Marill, Alexandre, additional, de Saint Martin, Grégoire, additional, Buisset, Adrien, additional, Muller, Jeanne, additional, Tessier, Lydie, additional, Gadras, Cédric, additional, Verny, Christophe, additional, Amati-Bonneau, Patrizia, additional, Lenaers, Guy, additional, Gohier, Philippe, additional, Bonneau, Dominique, additional, Simard, Gilles, additional, Milea, Dan, additional, Procaccio, Vincent, additional, and Reynier, Pascal, additional
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- 2018
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95. Primary fibroblasts derived from sporadic amyotrophic lateral sclerosis patients do not show ALS cytological lesions
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Codron, Philippe, primary, Cassereau, Julien, additional, Vourc’h, Patrick, additional, Veyrat-Durebex, Charlotte, additional, Blasco, Hélène, additional, Kane, Selma, additional, Procaccio, Vincent, additional, Letournel, Franck, additional, Verny, Christophe, additional, Lenaers, Guy, additional, Reynier, Pascal, additional, and Chevrollier, Arnaud, additional
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- 2018
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96. A Plasma Metabolomic Signature Involving Purine Metabolism in Human Optic Atrophy 1 (OPA1)-Related Disorders
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Bocca, Cinzia, primary, Kouassi Nzoughet, Judith, additional, Leruez, Stéphanie, additional, Amati-Bonneau, Patrizia, additional, Ferré, Marc, additional, Kane, Mariame-Selma, additional, Veyrat-Durebex, Charlotte, additional, Chao de la Barca, Juan Manuel, additional, Chevrollier, Arnaud, additional, Homedan, Chadi, additional, Verny, Christophe, additional, Miléa, Dan, additional, Procaccio, Vincent, additional, Simard, Gilles, additional, Bonneau, Dominique, additional, Lenaers, Guy, additional, and Reynier, Pascal, additional
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- 2018
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97. Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study
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Moss, Davina J Hensman, Tabrizi, Sarah J, Mead, Simon, Lo, Kitty, Pardiñas, Antonio F, Holmans, Peter, Jones, Lesley, Langbehn, Dougla, 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, S. J. A., Dumas, E. M., van der Grond, J., T'Hart, E. P., 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, H. D., 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, Marku, 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, Klau, 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, Johanne, 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, Matthia, Maass, Antonia, Schmidt, Simone, Bosredon, Cecile, Storch, Alexander, Wolz, Annett, Wolz, Martin, Capetian, Philipp, Lambeck, Johann, Zucker, Birgit, Boelmans, Kai, Ganos, Christo, Heinicke, Walburgi, Hidding, Ute, Lewerenz, Jan, Münchau, Alexander, Schmalfeld, Jenny, Stubbe, Lar, 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, Matthia, 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, Jan Frich, C., Wehus, Ragnhild, Bjørgo, Kathrine, Fannemel, Madeleine, Gørvell, Per F., Lorentzen, Eirin, Retterstøl, Lar, 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, Carlo, Gago, Miguel, Garrett, Carolina, Guerra, Maria Rosália, Herrera, Carmen Durán, Garcia, Patrocinio Moreno, Barbera, Miquel Aguilar, Guia, Dolors Badene, Hernanz, Laura Casa, 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, Bla, Fenollar, María, García, Rocío García-Ramo, Ortega, Paloma, Villanueva, Clara, Alegre, Javier, Bascuñana, Mónica, Caldentey, Juan Garcia, Ventura, Marta Fatá, 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 Vivanco, González González, Sonia, Guisasola, Luis Menéndez, Salvador, Carlo, Martín, Esther Suaréz San, Ramirez, Inés Legarda, Gorospe, Aranzazú, Lopera, Mónica Rodriguez, Arques, Penelope Nava, Rodríguez, María José Torre, Pastor, Barbara Vive, Gaston, Itziar, Martinez-Jaurrieta, Maria Dolore, Moreno, Jose Manuel Garcia, Lucena, Carolina Mendez, Damas, Fatima, Cortegana, Hermoso Eva Pacheco, Peña, José Chacón, Redondo, Lui, Carrillo, Fátima, Teresa Cáceres, María, Mir, Pablo, Suarez, María José Lama, Vargas-González, Laura, Bosca, Maria E., Brugada, Francisco Castera, Burguera, Juan Andre, Campos, Anabel, Vilaplana, Garcia Carmen Peiró, Berglund, Peter, Constantinescu, Radu, Fredlund, Gunnel, Høsterey-Ugander, Ulrika, Linnsand, Petra, Neleborn-Lingefjärd, Liselotte, Wentzel, Magnu, 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, Jen, 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, 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, Sundu, Davies, Rhy, 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, Thoma, 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, Iri, 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, Bentivoglio, Anna Rita (ORCID:0000-0002-9663-095X), Albanese, Alberto (ORCID:0000-0002-5864-0006), Moss, Davina J Hensman, Tabrizi, Sarah J, Mead, Simon, Lo, Kitty, Pardiñas, Antonio F, Holmans, Peter, Jones, Lesley, Langbehn, Dougla, 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, S. J. A., Dumas, E. M., van der Grond, J., T'Hart, E. P., 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, H. D., 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, Marku, 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, Klau, 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, Johanne, 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, Matthia, Maass, Antonia, Schmidt, Simone, Bosredon, Cecile, Storch, Alexander, Wolz, Annett, Wolz, Martin, Capetian, Philipp, Lambeck, Johann, Zucker, Birgit, Boelmans, Kai, Ganos, Christo, Heinicke, Walburgi, Hidding, Ute, Lewerenz, Jan, Münchau, Alexander, Schmalfeld, Jenny, Stubbe, Lar, 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, Matthia, 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, Jan Frich, C., Wehus, Ragnhild, Bjørgo, Kathrine, Fannemel, Madeleine, Gørvell, Per F., Lorentzen, Eirin, Retterstøl, Lar, 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, Carlo, Gago, Miguel, Garrett, Carolina, Guerra, Maria Rosália, Herrera, Carmen Durán, Garcia, Patrocinio Moreno, Barbera, Miquel Aguilar, Guia, Dolors Badene, Hernanz, Laura Casa, 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, Bla, Fenollar, María, García, Rocío García-Ramo, Ortega, Paloma, Villanueva, Clara, Alegre, Javier, Bascuñana, Mónica, Caldentey, Juan Garcia, Ventura, Marta Fatá, 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 Vivanco, González González, Sonia, Guisasola, Luis Menéndez, Salvador, Carlo, Martín, Esther Suaréz San, Ramirez, Inés Legarda, Gorospe, Aranzazú, Lopera, Mónica Rodriguez, Arques, Penelope Nava, Rodríguez, María José Torre, Pastor, Barbara Vive, Gaston, Itziar, Martinez-Jaurrieta, Maria Dolore, Moreno, Jose Manuel Garcia, Lucena, Carolina Mendez, Damas, Fatima, Cortegana, Hermoso Eva Pacheco, Peña, José Chacón, Redondo, Lui, Carrillo, Fátima, Teresa Cáceres, María, Mir, Pablo, Suarez, María José Lama, Vargas-González, Laura, Bosca, Maria E., Brugada, Francisco Castera, Burguera, Juan Andre, Campos, Anabel, Vilaplana, Garcia Carmen Peiró, Berglund, Peter, Constantinescu, Radu, Fredlund, Gunnel, Høsterey-Ugander, Ulrika, Linnsand, Petra, Neleborn-Lingefjärd, Liselotte, Wentzel, Magnu, 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, Jen, 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, 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, Sundu, Davies, Rhy, 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, Thoma, 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, Iri, 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, Bentivoglio, Anna Rita (ORCID:0000-0002-9663-095X), and Albanese, Alberto (ORCID:0000-0002-5864-0006)
- Abstract
Background Huntington's disease is caused by a CAG repeat expansion in the huntingtin gene, HTT. Age at onset has been used as a quantitative phenotype in genetic analysis looking for Huntington's disease modifiers, but is hard to define and not always available. Therefore, we aimed to generate a novel measure of disease progression and to identify genetic markers associated with this progression measure. Methods We generated a progression score on the basis of principal component analysis of prospectively acquired longitudinal changes in motor, cognitive, and imaging measures in the 218 indivduals in the TRACK-HD cohort of Huntington's disease gene mutation carriers (data collected 2008â11). We generated a parallel progression score using data from 1773 previously genotyped participants from the European Huntington's Disease Network REGISTRY study of Huntington's disease mutation carriers (data collected 2003â13). We did a genome-wide association analyses in terms of progression for 216 TRACK-HD participants and 1773 REGISTRY participants, then a meta-analysis of these results was undertaken. Findings Longitudinal motor, cognitive, and imaging scores were correlated with each other in TRACK-HD participants, justifying use of a single, cross-domain measure of disease progression in both studies. The TRACK-HD and REGISTRY progression measures were correlated with each other (r=0·674), and with age at onset (TRACK-HD, r=0·315; REGISTRY, r=0·234). The meta-analysis of progression in TRACK-HD and REGISTRY gave a genome-wide significant signal (p=1·12 à 10â10) on chromosome 5 spanning three genes: MSH3, DHFR, and MTRNR2L2. The genes in this locus were associated with progression in TRACK-HD (MSH3 p=2·94 à 10â8DHFR p=8·37 à 10â7MTRNR2L2 p=2·15 à 10â9) and to a lesser extent in REGISTRY (MSH3 p=9·36 à 10â4DHFR p=8·45 à 10â4MTRNR2L2 p=1·20 à 10â3). The lead single nucleotide polymorphism (SNP) in TRACK-HD (rs55787
- Published
- 2017
98. Guidelines for clinical pharmacological practices in Huntington's disease
- Author
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Désaméricq, G, Youssov, K, Charles, P, Saleh, N, Olivier, A, Sherer-Gagou, C, Verny, Christophe, group, multidisciplinary, Bachoud-Lévi, Anne-Catherine, Univ Angers, Okina, Biologie Neurovasculaire et Mitochondriale Intégrée (BNMI), and Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université d'Angers (UA)
- Subjects
Clinical Trials as Topic ,Evidence-based medicine ,[SDV.MHEP] Life Sciences [q-bio]/Human health and pathology ,Practice Guidelines as Topic ,Humans ,Huntington disease ,[SDV.MHEP]Life Sciences [q-bio]/Human health and pathology ,Antipsychotic Agents - Abstract
International audience; OBJECTIVE: Evidence-based medicine is a difficult goal to achieve in rare diseases where randomized controlled trials are lacking. This report provides guidelines that capitalize on both the literature and expertise of the French National Huntington Disease Reference Centre to optimalize pharmacological therapeutic interventions for Huntington's disease (HD).MATERIAL AND METHODS: HD experts conducted a systematic analysis of the literature from 1965 to 2013, using a scoring procedure established by the French National Authority for Health. These experts offered their views when evidence was missing to set up provisional guidelines for care in HD. These guidelines were then scored and amended through two subsequent online questionnaires (using SurveyMonkey scoring), and one face-to-face meeting with an external multidisciplinary working group as a step towards validation.RESULTS: Except for the beneficial effects of tetrabenazine in chorea, none of the published recommendations were grounded on established scientific evidence. Second-generation antipsychotics are nevertheless the first choice for patients with psychiatric manifestations (low level of evidence). All other guidelines are based on low-level evidence and little professional agreement.CONCLUSION: Patients' care has greatly improved over the last few years despite the lack of high-level evidence standards. Guidelines are based on the expertise of trained specialists from the French National Plan for Rare Diseases. This strategy should now be extended internationally to promote future studies and to harmonize worldwide care of HD.
- Published
- 2016
99. Insulin-Like Growth Factor-1 but Not Insulin Predicts Cognitive Decline in Huntington's Disease
- Author
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Salem, Linda, Saleh, Nadine, Désaméricq, Gaelle, Youssov, Katia, Dolbeau, Guillaume, Cleret, Laurent, Bourhis, Marie-Laure, Azulay, Jean-Philippe, Krystkowiak, Pierre, Verny, Christophe, Morin, Françoise, Moutereau, Stéphane, Group, French, Bachoud-Lévi, Anne-Catherine, Maison, Patrick, Biologie Neurovasculaire et Mitochondriale Intégrée (BNMI), and Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)
- Subjects
0301 basic medicine ,Male ,Physiology ,Peptide Hormones ,medicine.medical_treatment ,lcsh:Medicine ,Disease ,Biochemistry ,Insulin-like growth factor ,Endocrinology ,Cognition ,Learning and Memory ,0302 clinical medicine ,Medicine and Health Sciences ,80 and over ,Antipsychotics ,Insulin ,Cognitive decline ,Insulin-Like Growth Factor I ,lcsh:Science ,Aged, 80 and over ,Cognitive Impairment ,Multidisciplinary ,Cognitive Neurology ,Drugs ,Neurodegenerative Diseases ,Huntington disease ,Middle Aged ,Neurology ,Genetic Diseases ,Disease Progression ,Female ,Research Article ,Cohort study ,Adult ,medicine.medical_specialty ,Cognitive Neuroscience ,Research and Analysis Methods ,03 medical and health sciences ,Young Adult ,Insulin-like Growth Factors ,Huntington's disease ,Alzheimer Disease ,Memory ,Growth Factors ,Internal medicine ,Mental Health and Psychiatry ,medicine ,Humans ,Animal Models of Disease ,Aged ,Diabetic Endocrinology ,Clinical Genetics ,Pharmacology ,Endocrine Physiology ,business.industry ,lcsh:R ,Autosomal Dominant Diseases ,Biology and Life Sciences ,medicine.disease ,Hormones ,030104 developmental biology ,Animal Studies ,Cognitive Science ,lcsh:Q ,Dementia ,business ,Cognition Disorders ,030217 neurology & neurosurgery ,[SDV.MHEP]Life Sciences [q-bio]/Human health and pathology ,Neuroscience ,Stroop effect - Abstract
International audience; BACKGROUND: Huntington's disease (HD) is one of several neurodegenerative disorders that have been associated with metabolic alterations. Changes in Insulin Growth Factor 1 (IGF-1) and/or insulin input to the brain may underlie or contribute to the progress of neurodegenerative processes. Here, we investigated the association over time between changes in plasma levels of IGF-1 and insulin and the cognitive decline in HD patients.METHODS: We conducted a multicentric cohort study in 156 patients with genetically documented HD aged from 22 to 80 years. Among them, 146 patients were assessed at least twice with a follow-up of 3.5 ± 1.8 years. We assessed their cognitive decline using the Unified Huntington's Disease Rating Scale, and their IGF-1 and insulin plasmatic levels, at baseline and once a year during the follow-up. Associations were evaluated using a mixed-effect linear model.RESULTS: In the cross-sectional analysis at baseline, higher levels of IGF-1 and insulin were associated with lower cognitive scores and thus with a higher degree of cognitive impairment. In the longitudinal analysis, the decrease of all cognitive scores, except the Stroop interference, was associated with the IGF-1 level over time but not of insulin.CONCLUSIONS: IGF-1 levels, unlike insulin, predict the decline of cognitive function in HD.
- Published
- 2016
100. Neurotoxicity of Insecticides
- Author
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Cassereau, Julien, primary, Ferré, Marc, additional, Chevrollier, Arnaud, additional, Codron, Philippe, additional, Verny, Christophe, additional, Homedan, Chadi, additional, Lenaers, Guy, additional, Procaccio, Vincent, additional, May-Panloup, Pascale, additional, and Reynier, Pascal, additional
- Published
- 2017
- Full Text
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