Characterization of Recessive Parkinson Disease in a Large Multicenter Study von Lesage, Suzanne, Lunati, Ariane, Houot, Marion, Romdhan, Sawssan Ben, Clot, Fabienne, Tesson, Christelle, Mangone, Graziella, Toullec, Benjamin Le, Courtin, Thomas, Larcher, Kathy, Benmahdjoub, Mustapha, Arezki, Mohamed, Bouhouche, Ahmed, Anheim, Mathieu, Roze, Emmanuel, Viallet, François, Tison, François, Broussolle, Emmanuel, Emre, Murat, Hanagasi, Hasmet, Bilgic, Basar, Tazir, Meriem, Djebara, Mouna Ben, Gouider, Riadh, Tranchant, Christine, Vidailhet, Marie, Le Guern, Eric, Corti, Olga, Mhiri, Chokri, Lohmann, Ebba, Singleton, Andrew, Corvol, Jean‐Christophe, Brice, Alexis, Lesage, Suzanne, Lunati, Ariane, Houot, Marion, Ben Romdhan, Sawssan, Clot, Fabienne, Tesson, Christelle, Mangone, Graziella, Le Toullec, Benjamin, Courtin, Thomas, Larcher, Kathy, Benmahdjoub, Mustapha, Arezki, Mohammed, Bouhouche, Ahmed, Anheim, Mathieu, Roze, Emmanuel, Viallet, François, Tison, François, Broussolle, Emmanuel, Emre, Murat, Hanagasi, Hasmet, Bilgic, Basar, Ben Djebara, Mouna, Gouider, Riadh, Tazir, Meriem, Tranchant, Christine, Vidailhet, Marie, Le Guern, Eric, Corti, Olga, Mhiri, Chokri, Lohmann, Ebba, Singleton, Andy, Corvol, Jean‐Christophe, Brice, Alexis

Volltext

Myoclonus-dystonia: An update von Kinugawa, Kiyoka, Vidailhet, Marie, Clot, Fabienne, Apartis, Emmanuelle, Grabli, David, Roze, Emmanuel

Volltext

SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation von de Sainte Agathe, Jean-Madeleine, Filser, Mathilde, Isidor, Bertrand, Besnard, Thomas, Gueguen, Paul, Perrin, Aurélien, Van Goethem, Charles, Verebi, Camille, Masingue, Marion, Rendu, John, Cossée, Mireille, Bergougnoux, Anne, Frobert, Laurent, Buratti, Julien, Lejeune, Élodie, Le Guern, Éric, Pasquier, Florence, Clot, Fabienne, Kalatzis, Vasiliki, Roux, Anne-Françoise, Cogné, Benjamin, Baux, David

Volltext

Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study von Le Ber, Isabelle, Camuzat, Agnès, Hannequin, Didier, Pasquier, Florence, Guedj, Eric, Rovelet-Lecrux, Anne, Hahn-Barma, Valérie, van der Zee, Julie, Clot, Fabienne, Bakchine, Serge, Puel, Michèle, Ghanim, Mustapha, Lacomblez, Lucette, Mikol, Jacqueline, Deramecourt, Vincent, Lejeune, Pascal, de la Sayette, Vincent, Belliard, Serge, Vercelletto, Martine, Meyrignac, Christian, Van Broeckhoven, Christine, Lambert, Jean-Charles, Verpillat, Patrice, Campion, Dominique, Habert, Marie-Odile, Dubois, Bruno, Brice, Alexis

Volltext

Novel VCP mutations expand the mutational spectrum of frontotemporal dementia von Saracino, Dario, Clot, Fabienne, Camuzat, Agnès, Anquetil, Vincent, Hannequin, Didier, Guyant-Maréchal, Lucie, Didic, Mira, Guillot-Noël, Léna, Rinaldi, Daisy, Latouche, Morwena, Forlani, Sylvie, Ghassab, Yassaman, Coppola, Cinzia, Di Iorio, Giuseppe, David, Isabelle, Le Guern, Eric, Brice, Alexis, Le Ber, Isabelle

Volltext

de novo MAPT mutation G335A causes severe brain atrophy, 3R and 4R PHF-tau pathology and early onset frontotemporal dementia von Ando, Kunie, Ferlini, Lorenzo, Suain, Valerie, Yilmaz, Zehra, Mansour, Salwa, Le Ber, Isabelle, Bouchard, Cecile, Leroy, Karelle, Durr, Alexandra, Clot, Fabienne, Sarazin, Marie, Bier, Jean-Christophe, Brion, Jean-Pierre

Volltext

[123 I]-FP-CIT and [99m Tc]-HMPAO single photon emission computed tomography in a new sporadic case of rapid-onset dystonia–parkinsonism von Zanotti-Fregonara, Paolo, Vidailhet, Marie, Kas, Aurélie, Ozelius, Laurie J, Clot, Fabienne, Hindié, Elif, Ravasi, Laura, Devaux, Jean-Yves, Roze, Emmanuel

Volltext

Late-onset parkinsonism in a patient with a novel frameshift THAP1 variant von Courtin, Edouard, Poblete, Natalia Hernandez, Clot, Fabienne, Guehl, Dominique, Burbaud, Pierre

Volltext

Confirmation of RAB32 Ser71Arg Involvement in Parkinson's Disease von Cogan, Guillaume, Tesson, Christelle, Brefel-Courbon, Christine, Lanore, Aymeric, Kodjovi, Gatepe Cedoine, Welment, Lisa, Clot, Fabienne, Lesage, Suzanne, Brice, Alexis

Volltext

Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanisms von Huin, Vincent, Barbier, Mathieu, Bottani, Armand, Lobrinus, Johannes Alexander, Clot, Fabienne, Lamari, Foudil, Chat, Laureen, Rucheton, Benoit, Fluchere, Frederique, Auvin, Stephane, Myers, Peter, Gelot, Antoinette, Camuzat, Agnes, Caillaud, Catherine, Jornea, Ludmila, Forlani, Sylvie, Saracino, Dario, Duyckaerts, Charles, Brice, Alexis, Durr, Alexandra, Le Ber, Isabelle

Volltext

Extensive White Matter Involvement in Patients With Frontotemporal Lobar Degeneration: Think Progranulin von Caroppo, Paola, Le Ber, Isabelle, Camuzat, Agnès, Clot, Fabienne, Naccache, Lionel, Lamari, Foudil, De Septenville, Anne, Bertrand, Anne, Belliard, Serge, Hannequin, Didier, Colliot, Olivier, Brice, Alexis

Volltext

Characterization of Recessive Parkinson Disease in a Large Multicenter Study von Lesage, Suzanne, Lunati, Ariane, Houot, Marion, Ben Romdhan, Sawssan, Clot, Fabienne, Tesson, Christelle, Mangone, Graziella, Le Toullec, Benjamin, Courtin, Thomas, Larcher, Kathy, Benmahdjoub, Mustapha, Arezki, Mohamed, Bouhouche, Ahmed, Anheim, Mathieu, Roze, Emmanuel, Viallet, Francois, Tison, Francois, Broussolle, Emmanuel, Emre, Murat, Hanagasi, Hasmet, Bilgic, Basar, Tazir, Meriem, Ben Djebara, Mouna, Gouider, Riadh, Tranchant, Christine, Vidailhet, Marie, Le Guern, Eric, Corti, Olga, Mhiri, Chokri, Lohmann, Ebba, Singleton, Andrew, Corvol, Jean-Christophe, Brice, Alexis

Volltext

Plasma progranulin levels for frontotemporal dementia in clinical practice: a 10-year French experience von Sellami, Leila, Rucheton, Benoît, Ben Younes, Imen, Camuzat, Agnès, Saracino, Dario, Rinaldi, Daisy, Epelbaum, Stephane, Azuar, Carole, Levy, Richard, Auriacombe, Sophie, Hannequin, Didier, Pariente, Jérémie, Barbier, Mathieu, Boutoleau-Bretonnière, Claire, Couratier, Philippe, Pasquier, Florence, Deramecourt, Vincent, Sauvée, Mathilde, Sarazin, Marie, Lagarde, Julien, Roué-Jagot, Carole, Forlani, Sylvie, Jornea, Ludmila, David, Isabelle, LeGuern, Eric, Dubois, Bruno, Brice, Alexis, Clot, Fabienne, Lamari, Foudil, Le Ber, Isabelle

Volltext

Primary Progressive Aphasia Associated With GRN Mutations: New Insights Into the Nonamyloid Logopenic Variant von Saracino, Dario, Ferrieux, Sophie, Noguès-Lassiaille, Marie, Houot, Marion, Funkiewiez, Aurélie, Sellami, Leila, Deramecourt, Vincent, Pasquier, Florence, Couratier, Philippe, Pariente, Jérémie, Géraudie, Amandine, Epelbaum, Stéphane, Wallon, David, Hannequin, Didier, Martinaud, Olivier, Clot, Fabienne, Camuzat, Agnès, Bottani, Simona, Rinaldi, Daisy, Auriacombe, Sophie, Sarazin, Marie, Didic, Mira, Boutoleau-Bretonnière, Claire, Thauvin-Robinet, Christel, Lagarde, Julien, Roué-Jagot, Carole, Sellal, François, Gabelle, Audrey, Etcharry-Bouyx, Frédérique, Morin, Alexandre, Coppola, Cinzia, Levy, Richard, Dubois, Bruno, Brice, Alexis, Colliot, Olivier, Gorno-Tempini, Maria Luisa, Teichmann, Marc, Migliaccio, Raffaella, Le Ber, Isabelle

Volltext

TBK1 mutation frequencies in French frontotemporal dementia and amyotrophic lateral sclerosis cohorts von Le Ber, Isabelle, De Septenville, Anne, Millecamps, Stéphanie, Camuzat, Agnès, Caroppo, Paola, Couratier, Philippe, Blanc, Frédéric, Lacomblez, Lucette, Sellal, François, Fleury, Marie-Céline, Meininger, Vincent, Cazeneuve, Cécile, Clot, Fabienne, Flabeau, Olivier, LeGuern, Eric, Brice, Alexis

Volltext

A randomized, controlled, double-blind, crossover trial of zonisamide in myoclonus-dystonia von Hainque, Elodie, Vidailhet, Marie, Cozic, Nathalie, Charbonnier-Beaupel, Fanny, Thobois, Stéphane, Tranchant, Christine, Brochard, Vanessa, Glibert, Gérald, Drapier, Sophie, Mutez, Eugénie, Doe De Maindreville, Anne, Lebouvier, Thibaud, Hubsch, Cécile, Degos, Bertrand, Bonnet, Cécilia, Grabli, David, Legrand, André-Pierre, Méneret, Aurélie, Azulay, Jean-Philippe, Bissery, Anne, Zahr, Noël, Clot, Fabienne, Mallet, Alain, Dupont, Sophie, Apartis, Emmanuelle, Corvol, Jean-Christophe, Roze, Emmanuel

Volltext

Biallelic AOPEP Loss‐of‐Function Variants Cause Progressive Dystonia with Prominent Limb Involvement von Zech, Michael, Kumar, Kishore R., Reining, Sophie, Reunert, Janine, Tchan, Michel, Riley, Lisa G., Drew, Alexander P., Adam, Robert J., Berutti, Riccardo, Biskup, Saskia, Derive, Nicolas, Bakhtiari, Somayeh, Jin, Sheng Chih, Kruer, Michael C., Bardakjian, Tanya, Gonzalez‐Alegre, Pedro, Keller Sarmiento, Ignacio J., Mencacci, Niccolo E., Lubbe, Steven J., Kurian, Manju A., Clot, Fabienne, Méneret, Aurélie, Sainte Agathe, Jean‐Madeleine, Fung, Victor S.C., Vidailhet, Marie, Baumann, Matthias, Marquardt, Thorsten, Winkelmann, Juliane, Boesch, Sylvia

Volltext

Relations between C9orf72 expansion size in blood, age at onset, age at collection and transmission across generations in patients and presymptomatic carriers von Fournier, Clémence, Barbier, Mathieu, Camuzat, Agnès, Anquetil, Vincent, Lattante, Serena, Clot, Fabienne, Cazeneuve, Cécile, Rinaldi, Daisy, Couratier, Philippe, Deramecourt, Vincent, Sabatelli, Mario, Belliard, Serge, Vercelletto, Martine, Forlani, Sylvie, Jornea, Ludmila, Brice, Alexis, Auriacombe, Sophie, Belliard, Serge, Blanc, Frédéric, Bouteleau-Bretonnière, Claire, Ceccaldi, Mathieu, Couratier, Philippe, Didic, Mira, Dubois, Bruno, Duyckaerts, Charles, Etcharry-Bouix, Frédérique, Golfier, Véronique, Hannequin, Didier, Lacomblez, Lucette, Le Ber, Isabelle, Levy, Richard, Michel, Bernard-François, Pasquier, Florence, Thomas-Anterion, Catherine, Pariente, Jérémie, Sellal, François, Vercelletto, Martine, Benchetrit, Eve, Bertin, Hugo, Bertrand, Anne, Bissery, Anne, Bombois, Stéphanie, Boncoeur, Marie-Paule, Cassagnaud, Pascaline, Chastan, Mathieu, Chen, Yaohua, Chupin, Marie, Colliot, Olivier, Couratier, Philippe, Delbeucq, Xavier, Deramecourt, Vincent, Delmaire, Christine, Gerardin, Emmanuel, Hossein-Foucher, Claude, Dubois, Bruno, Habert, Marie-Odile, Hannequin, Didier, Lautrette, Géraldine, Lebouvier, Thibaud, Le Ber, Isabelle, Lehéricy, Stéphane, Le Toullec, Benjamin, Levy, Richard, Martineau, Kelly, Mackowiak, Marie-Anne, Monteil, Jacques, Pasquier, Florence, Petyt, Grégory, Pradat, Pierre-François, Oya, Assi-Hervé, Rinaldi, Daisy, Rollin-Sillaire, Adeline, Salachas, François, Sayah, Sabrina, Wallon, David, Leguern, Eric, Brice, Alexis, Le Ber, Isabelle

Volltext

Isolated parkinsonism is an atypical presentation of GRN and C9orf72 gene mutations von Carneiro, Fábio, Saracino, Dario, Huin, Vincent, Clot, Fabienne, Delorme, Cécile, Méneret, Aurélie, Thobois, Stéphane, Cormier, Florence, Corvol, Jean Christophe, Lenglet, Timothée, Vidailhet, Marie, Habert, Marie-Odile, Gabelle, Audrey, Beaufils, Émilie, Mondon, Karl, Tir, Mélissa, Andriuta, Daniela, Brice, Alexis, Deramecourt, Vincent, Le Ber, Isabelle

Volltext

Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia von Clot, Fabienne, Grabli, David, Cazeneuve, Cécile, Roze, Emmanuel, Castelnau, Pierre, Chabrol, Brigitte, Landrieu, Pierre, Nguyen, Karine, Ponsot, Gérard, Abada, Myriem, Doummar, Diane, Damier, Philippe, Gil, Roger, Thobois, Stéphane, Ward, Alana J., Hutchinson, Michael, Toutain, Annick, Picard, Fabienne, Camuzat, Agnès, Fedirko, Estelle, Sân, Chankannira, Bouteiller, Delphine, LeGuern, Eric, Durr, Alexandra, Vidailhet, Marie, Brice, Alexis

Volltext