Suchergebnisse - Camuzat, Agnès

New Antibody-Free Mass Spectrometry-Based Quantification Reveals That C9ORF72 Long Protein Isoform Is Reduced in the Frontal Cortex of Hexanucleotide-Repeat Expansion Carriers von Viodé, Arthur, Fournier, Clémence, Camuzat, Agnès, Fenaille, François, Latouche, Morwena, Elahi, Fanny, Le Ber, Isabelle, Junot, Christophe, Lamari, Foudil, Anquetil, Vincent, Becher, François

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Mapping of Spinocerebellar Ataxia 13 to Chromosome 19q13.3-q13.4 in a Family with Autosomal Dominant Cerebellar Ataxia and Mental Retardation von Herman-Bert, Alexandra, Stevanin, Giovanni, Netter, Jean-Claude, Rascol, Olivier, Brassat, David, Calvas, Patrick, Camuzat, Agnès, Yuan, Qiu-ping, Schalling, Martin, Dürr, Alexandra, Brice, Alexis

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Homozygous TREM2 mutation in a family with atypical frontotemporal dementia von Le Ber, Isabelle, De Septenville, Anne, Guerreiro, Rita, Bras, José, Camuzat, Agnès, Caroppo, Paola, Lattante, Serena, Couarch, Philippe, Kabashi, Edor, Bouya-Ahmed, Kawtar, Dubois, Bruno, Brice, Alexis

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Factors influencing the age at onset in familial frontotemporal lobar dementia: Important weight of genetics von Barbier, Mathieu, Camuzat, Agnès, Houot, Marion, Clot, Fabienne, Caroppo, Paola, Fournier, Clémence, Rinaldi, Daisy, Pasquier, Florence, Hannequin, Didier, Pariente, Jérémie, Larcher, Kathy, Brice, Alexis, Génin, Emmanuelle, Sabbagh, Audrey, Le Ber, Isabelle

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A Phenotype of Atypical Apraxia of Speech in a Family Carrying SQSTM1 Mutation von Boutoleau-Bretonnière, Claire, Camuzat, Agnès, Ber, Isabelle Le, Bouya-Ahmed, Kawtar, Guerreiro, Rita, Deruet, Anne-Laure, Evrard, Christelle, Bras, José, Lamy, Estelle, Auffray-Calvier, Elisabeth, Pallardy, Amandine, Hardy, John, Brice, Alexis, Derkinderen, Pascal, Vercelletto, Martine

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Interrupted CAG expansions in ATXN2 gene expand the genetic spectrum of frontotemporal dementias von Fournier, Clémence, Anquetil, Vincent, Camuzat, Agnès, Stirati-Buron, Sandrine, Sazdovitch, Véronique, Molina-Porcel, Laura, Turbant, Sabrina, Rinaldi, Daisy, Sánchez-Valle, Raquel, Barbier, Mathieu, Latouche, Morwena, Stevanin, Giovanni, Seilhean, Danielle, Brice, Alexis, Duyckaerts, Charles, Le Ber, Isabelle

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SQSTM1 Mutations in French Patients With Frontotemporal Dementia or Frontotemporal Dementia With Amyotrophic Lateral Sclerosis von Le Ber, Isabelle, Camuzat, Agnès, Guerreiro, Rita, Bouya-Ahmed, Kawtar, Bras, Jose, Nicolas, Gael, Gabelle, Audrey, Didic, Mira, De Septenville, Anne, Millecamps, Stéphanie, Lenglet, Timothée, Latouche, Morwena, Kabashi, Edor, Campion, Dominique, Hannequin, Didier, Hardy, John, Brice, Alexis

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Semantic and nonfluent aphasic variants, secondarily associated with amyotrophic lateral sclerosis, are predominant frontotemporal lobar degeneration phenotypes in TBK1 carriers von Caroppo, Paola, Camuzat, Agnès, De Septenville, Anne, Couratier, Philippe, Lacomblez, Lucette, Auriacombe, Sophie, Flabeau, Olivier, Jornéa, Ludmila, Blanc, Frederic, Sellal, François, Cretin, Benjamin, Meininger, Vincent, Fleury, Marie-Céline, Couarch, Philippe, Dubois, Bruno, Brice, Alexis, Le Ber, Isabelle

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Reduced Tau protein expression is associated with frontotemporal degeneration with progranulin mutation von Papegaey, Anthony, Eddarkaoui, Sabiha, Deramecourt, Vincent, Fernandez-Gomez, Francisco-Jose, Pantano, Pierre, Obriot, Hélène, Machala, Camille, Anquetil, Vincent, Camuzat, Agnès, Brice, Alexis, Maurage, Claude-Alain, Le Ber, Isabelle, Duyckaerts, Charles, Buée, Luc, Sergeant, Nicolas, Buée-Scherrer, Valérie

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Plasma microRNA signature in presymptomatic and symptomatic subjects with C9orf72-associated frontotemporal dementia and amyotrophic lateral sclerosis von Kmetzsch, Virgilio, Anquetil, Vincent, Saracino, Dario, Rinaldi, Daisy, Camuzat, Agnès, Gareau, Thomas, Jornea, Ludmila, Forlani, Sylvie, Couratier, Philippe, Wallon, David, Pasquier, Florence, Robil, Noémie, de la Grange, Pierre, Moszer, Ivan, Le Ber, Isabelle, Colliot, Olivier, Becker, Emmanuelle

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Genetic Variants of the α-Synuclein Gene SNCA Are Associated with Multiple System Atrophy von Al-Chalabi, Ammar, Dürr, Alexandra, Wood, Nicholas W., Parkinson, Michael H., Camuzat, Agnes, Hulot, Jean-Sébastien, Morrison, Karen E., Renton, Alan, Sussmuth, Sigurd D., Landwehrmeyer, Bernhard G., Ludolph, Albert, Agid, Yves, Brice, Alexis, Leigh, P. Nigel, Bensimon, Gilbert

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Defining the spectrum of frontotemporal dementias associated with TARDBP mutations von Caroppo, Paola, Camuzat, Agnès, Guillot-Noel, Léna, Thomas-Antérion, Catherine, Couratier, Philippe, Wong, Tsz Hang, Teichmann, Marc, Golfier, Véronique, Auriacombe, Sophie, Belliard, Serge, Laurent, Bernard, Lattante, Serena, Millecamps, Stéphanie, Clot, Fabienne, Dubois, Bruno, van Swieten, John C., Brice, Alexis, Le Ber, Isabelle

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Early Cognitive, Structural, and Microstructural Changes in Presymptomatic C9orf72 Carriers Younger Than 40 Years von Bertrand, Anne, Wen, Junhao, Rinaldi, Daisy, Houot, Marion, Sayah, Sabrina, Camuzat, Agnès, Fournier, Clémence, Fontanella, Sabrina, Routier, Alexandre, Couratier, Philippe, Pasquier, Florence, Habert, Marie-Odile, Hannequin, Didier, Martinaud, Olivier, Caroppo, Paola, Levy, Richard, Dubois, Bruno, Brice, Alexis, Durrleman, Stanley, Colliot, Olivier, Le Ber, Isabelle

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Contribution of ATXN2 intermediary polyQ expansions in a spectrum of neurodegenerative disorders von Lattante, Serena, Millecamps, Stéphanie, Stevanin, Giovanni, Rivaud-Péchoux, Sophie, Moigneu, Carine, Camuzat, Agnès, Da Barroca, Sandra, Mundwiller, Emeline, Couarch, Philippe, Salachas, François, Hannequin, Didier, Meininger, Vincent, Pasquier, Florence, Seilhean, Danielle, Couratier, Philippe, Danel-Brunaud, Véronique, Bonnet, Anne-Marie, Tranchant, Christine, LeGuern, Eric, Brice, Alexis, Le Ber, Isabelle, Kabashi, Edor

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Genetic Analysis of Inherited Leukodystrophies: Genotype-Phenotype Correlations in the CSF1R Gene von Guerreiro, Rita, Kara, Eleanna, Le Ber, Isabelle, Bras, Jose, Rohrer, Jonathan D., Taipa, Ricardo, Lashley, Tammaryn, Dupuits, Céline, Gurunlian, Nicole, Mochel, Fanny, Warren, Jason D., Hannequin, Didier, Sedel, Frédéric, Depienne, Christel, Camuzat, Agnès, Golfier, Véronique, Du Boisguéheneuc, Foucaud, Schottlaender, Lucia, Fox, Nick C., Beck, Jonathan, Mead, Simon, Rossor, Martin N., Hardy, John, Revesz, Tamas, Brice, Alexis, Houlden, Henry

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Plasma NfL levels and longitudinal change rates in C9orf72 and GRN-associated diseases: from tailored references to clinical applications von Saracino, Dario, Dorgham, Karim, Camuzat, Agnès, Rinaldi, Daisy, Rametti-Lacroux, Armelle, Houot, Marion, Clot, Fabienne, Martin-Hardy, Philippe, Jornea, Ludmila, Azuar, Carole, Migliaccio, Raffaella, Pasquier, Florence, Couratier, Philippe, Auriacombe, Sophie, Sauvée, Mathilde, Boutoleau-Bretonnière, Claire, Pariente, Jérémie, Didic, Mira, Hannequin, Didier, Wallon, David, Colliot, Olivier, Dubois, Bruno, Brice, Alexis, Levy, Richard, Forlani, Sylvie, Le Ber, Isabelle

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Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes von Tezenas du Montcel, Sophie, Durr, Alexandra, Bauer, Peter, Figueroa, Karla P., Ichikawa, Yaeko, Brussino, Alessandro, Forlani, Sylvie, Rakowicz, Maria, Schöls, Ludger, Mariotti, Caterina, van de Warrenburg, Bart P.C., Orsi, Laura, Giunti, Paola, Filla, Alessandro, Szymanski, Sandra, Klockgether, Thomas, Berciano, José, Pandolfo, Massimo, Boesch, Sylvia, Melegh, Bela, Timmann, Dagmar, Mandich, Paola, Camuzat, Agnès, Goto, Jun, Ashizawa, Tetsuo, Cazeneuve, Cécile, Tsuji, Shoji, Pulst, Stefan-M., Brusco, Alfredo, Riess, Olaf, Brice, Alexis, Stevanin, Giovanni

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Age at symptom onset and death and disease duration in genetic frontotemporal dementia: an international retrospective cohort study von Moore, Katrina M, Nicholas, Jennifer, Grossman, Murray, McMillan, Corey T, Irwin, David J, Massimo, Lauren, Van Deerlin, Vivianna M, Warren, Jason D, Fox, Nick C, Rossor, Martin N, Mead, Simon, Bocchetta, Martina, Boeve, Bradley F, Knopman, David S, Graff-Radford, Neill R, Forsberg, Leah K, Rademakers, Rosa, Wszolek, Zbigniew K, van Swieten, John C, Jiskoot, Lize C, Meeter, Lieke H, Dopper, Elise GP, Papma, Janne M, Snowden, Julie S, Saxon, Jennifer, Jones, Matthew, Pickering-Brown, Stuart, Le Ber, Isabelle, Camuzat, Agnès, Brice, Alexis, Caroppo, Paola, Ghidoni, Roberta, Pievani, Michela, Benussi, Luisa, Binetti, Giuliano, Dickerson, Bradford C, Lucente, Diane, Krivensky, Samantha, Graff, Caroline, Öijerstedt, Linn, Fallström, Marie, Thonberg, Håkan, Ghoshal, Nupur, Morris, John C, Borroni, Barbara, Benussi, Alberto, Padovani, Alessandro, Galimberti, Daniela, Scarpini, Elio, Fumagalli, Giorgio G, Mackenzie, Ian R, Hsiung, Ging-Yuek R, Sengdy, Pheth, Boxer, Adam L, Rosen, Howie, Taylor, Joanne B, Synofzik, Matthis, Wilke, Carlo, Sulzer, Patricia, Hodges, John R, Halliday, Glenda, Kwok, John, Sanchez-Valle, Raquel, Lladó, Albert, Borrego-Ecija, Sergi, Santana, Isabel, Almeida, Maria Rosário, Tábuas-Pereira, Miguel, Moreno, Fermin, Barandiaran, Myriam, Indakoetxea, Begoña, Levin, Johannes, Danek, Adrian, Rowe, James B, Cope, Thomas E, Otto, Markus, Anderl-Straub, Sarah, de Mendonça, Alexandre, Maruta, Carolina, Masellis, Mario, Black, Sandra E, Couratier, Philippe, Lautrette, Geraldine, Huey, Edward D, Sorbi, Sandro, Nacmias, Benedetta, Laforce, Robert, Tremblay, Marie-Pier L, Vandenberghe, Rik, Van Damme, Philip, Rogalski, Emily J, Weintraub, Sandra, Gerhard, Alexander, Onyike, Chiadi U, Ducharme, Simon, Papageorgiou, Sokratis G, Lyn, Adeline Su, Brodtmann, Amy, Finger, Elizabeth, Guerreiro, Rita, Bras, Jose, Rohrer, Jonathan D

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