Brain dysfunction in gait disorders of Caribbean atypical Parkinsonism and progressive supranuclear palsy patients: A comparative study
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Published in NeuroImage clinical (01.01.2023)
Published in NeuroImage clinical (01.01.2023)
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Association study of the GAB2 gene with the risk of developing Alzheimer's disease
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Published in Neurobiology of disease (01.04.2008)
Published in Neurobiology of disease (01.04.2008)
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Identification of evolutionarily conserved gene networks mediating neurodegenerative dementia
Swarup, Vivek, Hinz, Flora I., Rexach, Jessica E., Noguchi, Ken-ichi, Toyoshiba, Hiroyoshi, Oda, Akira, Hirai, Keisuke, Sarkar, Arjun, Seyfried, Nicholas T., Cheng, Chialin, Haggarty, Stephen J., Grossman, Murray, Van Deerlin, Vivianna M., Trojanowski, John Q., Lah, James J., Levey, Allan I., Kondou, Shinichi, Geschwind, Daniel H.
Published in Nature Medicine (01.01.2019)
Published in Nature Medicine (01.01.2019)
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Missense mutations in the AFG3L2 proteolytic domain account for ~1.5% of European autosomal dominant cerebellar ataxias
Cagnoli, Claudia, Stevanin, Giovanni, Brussino, Alessandro, Barberis, Marco, Mancini, Cecilia, Margolis, Russell L, Holmes, Susan E, Nobili, Marcello, Forlani, Sylvie, Padovan, Sergio, Pappi, Patrizia, Zaros, Cécile, Leber, Isabelle, Ribai, Pascale, Pugliese, Luisa, Assalto, Corrado, Brice, Alexis, Migone, Nicola, Dürr, Alexandra, Brusco, Alfredo
Published in Human mutation (01.10.2010)
Published in Human mutation (01.10.2010)
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The European Reference Network for Rare Neurological Diseases
Reinhard, Carola, Bachoud-Lévi, Anne-Catherine, Bäumer, Tobias, Bertini, Enrico, Brunelle, Alicia, Buizer, Annemieke I, Federico, Antonio, Gasser, Thomas, Groeschel, Samuel, Hermanns, Sanja, Klockgether, Thomas, Krägeloh-Mann, Ingeborg, Landwehrmeyer, G Bernhard, Leber, Isabelle, Macaya, Alfons, Mariotti, Caterina, Meissner, Wassilios G, Molnar, Maria Judit, Nonnekes, Jorik, Ortigoza Escobar, Juan Dario, Pérez Dueñas, Belen, Renna Linton, Lori, Schöls, Ludger, Schuele, Rebecca, Tijssen, Marina A J, Vandenberghe, Rik, Volkmer, Anna, Wolf, Nicole I, Graessner, Holm
Published in Frontiers in neurology (14.01.2021)
Published in Frontiers in neurology (14.01.2021)
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Conséquences diagnostiques de l’étude clinico-génétique de plus de 2000 patients avec suspicion de dégénérescence lobaire frontotemporale
Cogan, Guillaume, Leber, Isabelle, Saracino, Dario, Lamari, Foudil, Julie, Bogoin, Le Guern, Eric, Clot, Fabienne
Published in Revue neurologique (01.04.2024)
Published in Revue neurologique (01.04.2024)
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A systematic review of progranulin concentrations in biofluids in over 7,000 people-assessing the pathogenicity of GRN mutations and other influencing factors
Swift, Imogen J, Rademakers, Rosa, Finch, NiCole, Baker, Matt, Ghidoni, Roberta, Benussi, Luisa, Binetti, Giuliano, Rossi, Giacomina, Synofzik, Matthis, Wilke, Carlo, Mengel, David, Graff, Caroline, Takada, Leonel T, Sánchez-Valle, Raquel, Antonell, Anna, Galimberti, Daniela, Fenoglio, Chiara, Serpente, Maria, Arcaro, Marina, Schreiber, Stefanie, Vielhaber, Stefan, Arndt, Philipp, Santana, Isabel, Almeida, Maria Rosario, Moreno, Fermín, Barandiaran, Myriam, Gabilondo, Alazne, Stubert, Johannes, Gómez-Tortosa, Estrella, Agüero, Pablo, Sainz, M José, Gohda, Tomohito, Murakoshi, Maki, Kamei, Nozomu, Kittel-Schneider, Sarah, Reif, Andreas, Weigl, Johannes, Jian, Jinlong, Liu, Chuanju, Serrero, Ginette, Greither, Thomas, Theil, Gerit, Lohmann, Ebba, Gazzina, Stefano, Bagnoli, Silvia, Coppola, Giovanni, Bruni, Amalia, Quante, Mirja, Kiess, Wieland, Hiemisch, Andreas, Jurkutat, Anne, Block, Matthew S, Carlson, Aaron M, Bråthen, Geir, Sando, Sigrid Botne, Grøntvedt, Gøril Rolfseng, Lauridsen, Camilla, Heslegrave, Amanda, Heller, Carolin, Abel, Emily, Gómez-Núñez, Alba, Puey, Roger, Arighi, Andrea, Rotondo, Enmanuela, Jiskoot, Lize C, Meeter, Lieke H H, Durães, João, Lima, Marisa, Tábuas-Pereira, Miguel, Lemos, João, Boeve, Bradley, Petersen, Ronald C, Dickson, Dennis W, Graff-Radford, Neill R, LeBer, Isabelle, Sellami, Leila, Lamari, Foudil, Clot, Fabienne, Borroni, Barbara, Cantoni, Valentina, Rivolta, Jasmine, Lleó, Alberto, Fortea, Juan, Alcolea, Daniel, Illán-Gala, Ignacio, Andres-Cerezo, Lucie, Van Damme, Philip, Clarimon, Jordi, Steinacker, Petra, Feneberg, Emily, Otto, Markus, van der Ende, Emma L, van Swieten, John C, Seelaar, Harro, Zetterberg, Henrik, Sogorb-Esteve, Aitana, Rohrer, Jonathan D
Published in Alzheimer's research & therapy (28.03.2024)
Published in Alzheimer's research & therapy (28.03.2024)
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Cerebral microbleeds and CSF Alzheimer biomarkers in primary progressive aphasias
Mendes, Aline, Bertrand, Anne, Lamari, Foudil, Colliot, Olivier, Routier, Alexandre, Godefroy, Olivier, Etcharry-Bouyx, Frédérique, Moreaud, Olivier, Pasquier, Florence, Couratier, Philippe, Bennys, Karim, Vercelletto, Martine, Martinaud, Olivier, Laurent, Bernard, Pariente, Jérémie, Puel, Michèle, Epelbaum, Stéphane, Belliard, Serge, Kaaouana, Takoua, Fillon, Ludovic, Chupin, Marie, Dubois, Bruno, Teichmann, Marc
Published in Neurology (20.03.2018)
Published in Neurology (20.03.2018)
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Deux cas de DLFT comportementale révélant une mutation du gène TBK1
Boutelier, Ada, De Liège, Astrid, Leber, Isabelle, Epelbaum, Stéphane, Garcin, Béatrice
Published in Revue neurologique (01.04.2023)
Published in Revue neurologique (01.04.2023)
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Missense mutations in the AFG3L2 proteolytic domain account for similar to 1.5% of European autosomal dominant cerebellar ataxias
Cagnoli, Claudia, Stevanin, Giovanni, Brussino, Alessandro, Barberis, Marco, Mancini, Cecilia, Margolis, Russell L, Holmes, Susan E, Nobili, Marcello, lani, Sylvie, Padovan, Sergio, Pappi, Patrizia, Zaros, Cecile, Leber, Isabelle, Ribai, Pascale, Pugliese, Luisa, Assalto, Corrado, Brice, Alexis, Migone, Nicola, Durr, Alexandra, Brusco, Alfredo
Published in Human mutation (01.10.2010)
Published in Human mutation (01.10.2010)
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P1‐271: Genetics of early‐onset Alzheimer disease in France
Wallon, David, Wallon, David, Rovelet‐Lecrux, Anne, Martinaud, Olivier, Legallic, Solène, Pottier, Cyril, Bombois, Stephanie, Mackowiak, Marie‐Anne, Pasquier, Florence, Michon, Agnes, Leber, Isabelle, Dubois, Bruno, Pariente, Jeremie, Paquet, Claire, Croisile, Bernard, Thomas‐Anterion, Catherine, Hannequin, Didier, Campion, Dominique
Published in Alzheimer's & dementia (01.07.2011)
Published in Alzheimer's & dementia (01.07.2011)
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Genetics of early-onset Alzheimer disease in France
Wallon, David, Rovelet-Lecrux, Anne, Martinaud, Olivier, Legallic, Solène, Pottier, Cyril, Bombois, Stephanie, Mackowiak, Marie-Anne, Pasquier, Florence, Michon, Agnes, Leber, Isabelle, Dubois, Bruno, Pariente, Jeremie, Paquet, Claire, Croisile, Bernard, Thomas-Anterion, Catherine, Hannequin, Didier, Campion, Dominique
Published in Alzheimer's & dementia (01.07.2011)
Published in Alzheimer's & dementia (01.07.2011)
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