Questioning the causality of HTT CAG-repeat expansions in FTD/ALS von Thomas, Quentin, Coarelli, Giulia, Heinzmann, Anna, Le Ber, Isabelle, Amador, Maria del Mar, Durr, Alexandra

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How can we define the presymptomatic C9orf72 disease in 2022? An overview on the current definitions of preclinical and prodromal phases von Saracino, D., Le Ber, I.

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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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Neurofilament light chain: a biomarker for genetic frontotemporal dementia von Meeter, Lieke H., Dopper, Elise G., Jiskoot, Lize C., Sanchez‐Valle, Raquel, Graff, Caroline, Benussi, Luisa, Ghidoni, Roberta, Pijnenburg, Yolande A., Borroni, Barbara, Galimberti, Daniela, Laforce, Robert Jr, Masellis, Mario, Vandenberghe, Rik, Ber, Isabelle Le, Otto, Markus, Minkelen, Rick, Papma, Janne M., Rombouts, Serge A., Balasa, Mircea, Öijerstedt, Linn, Jelic, Vesna, Dick, Katrina M., Cash, David M., Harding, Sophie R., Jorge Cardoso, M., Ourselin, Sebastien, Rossor, Martin N., Padovani, Alessandro, Scarpini, Elio, Fenoglio, Chiara, Tartaglia, Maria C., Lamari, Foudil, Barro, Christian, Kuhle, Jens, Rohrer, Jonathan D., Teunissen, Charlotte E., Swieten, John C.

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Increased prevalence of granulovacuolar degeneration in C9orf72 mutation von Riku, Yuichi, Duyckaerts, Charles, Boluda, Susana, Plu, Isabelle, Le Ber, Isabelle, Millecamps, Stéphanie, Salachas, François, Yoshida, Mari, Ando, Takashi, Katsuno, Masahisa, Sobue, Gen, Seilhean, Danielle

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Extending the phenotypic spectrum assessed by the CDR plus NACC FTLD in genetic frontotemporal dementia von Samra, Kiran, Peakman, Georgia, MacDougall, Amy M., Bouzigues, Arabella, Swieten, John C., Jiskoot, Lize, Moreno, Fermin, Sanchez‐Valle, Raquel, Graff, Caroline, Masellis, Mario, Tartaglia, Maria Carmela, Borroni, Barbara, Finger, Elizabeth, Synofzik, Matthis, Galimberti, Daniela, Vandenberghe, Rik, Mendonça, Alexandre, Butler, Chris R., Gerhard, Alexander, Ducharme, Simon, Ber, Isabelle Le, Tiraboschi, Pietro, Santana, Isabel, Pasquier, Florence, Levin, Johannes, Rohrer, Jonathan D., Russell, Lucy L., Bocchetta, Martina, Cash, David, Thomas, David L, Cope, Thomas, Rittman, Timothy, Benussi, Alberto, Gazzina, Stefano, Cantoni, Valentina, Fenoglio, Chiara, Scarpini, Elio, Fumagalli, Giorgio, Borracci, Vittoria, Rossi, Giacomina, Fede, Giuseppe Di, Caroppo, Paola, Redaelli, Veronica, Tang‐Wai, David, Rogaeva, Ekaterina, Castelo‐Branco, Miguel, Keren, Ron, Mitchell, Sara, Shoesmith, Christen, Bartha, Robart, Rademakers, Rosa, Poos, Jackie, Papma, Janne M., Giannini, Lucia, Minkelen, Rick, Pijnenburg, Yolande, Nacmias, Benedetta, Ferrari, Camilla, Polito, Cristina, Bessi, Valentina, Veldsman, Michele, Thonberg, Hakan, Öijerstedt, Linn, Jelic, Vesna, Thompson, Paul, Langheinrich, Tobias, Olives, Jaume, Balasa, Mircea, Bargalló, Nuria, Verdelho, Ana, Ferreira, Catarina B., Miltenberger, Gabriel, do Couto, Frederico Simões, Gabilondo, Alazne, Gorostidi, Ana, Cañada, Marta, Barandiaran, Myriam, Vandenbulcke, Mathieu, Bruffaerts, Rose, Poesen, Koen, Rosa‐Neto, Pedro, Camuzat, Agnès, Brice, Alexis, Funkiewiez, Aurélie, Rinaldi, Daisy, Colliot, Olivier, Sayah, Sabrina, Wagemann, Olivia, Loosli, Sandra, Schönecker, Sonja, Hoegen, Tobias, Lombardi, Jolina, Anderl‐Straub, Sarah, Rollin, Adeline, Bertoux, Maxime, Lebouvier, Thibaud, Deramecourt, Vincent, Santiago, Beatriz, Duro, Diana, Leitão, Maria João

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Demographic, neurological and behavioural characteristics and brain perfusion SPECT in frontal variant of frontotemporal dementia von Ber, Isabelle Le, Guedj, Eric, Gabelle, Audrey, Verpillat, Patrice, Volteau, Magali, Thomas-Anterion, Catherine, Decousus, Marielle, Hannequin, Didier, Véra, Pierre, Lacomblez, Lucette, Camuzat, Agnès, Didic, Mira, Puel, Michèle, Lotterie, Jean-Albert, Golfier, Véronique, Bernard, Anne-Marie, Vercelletto, Martine, Magne, Christine, Sellal, François, Namer, Izzie, Michel, Bernard-François, Pasquier, Jacques, Salachas, François, Bochet, Jean, Brice, Alexis, Habert, Marie-Odile, Dubois, Bruno

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Frontotemporal dementia subtypes based on behavioral inhibition deficits von Godefroy, Valérie, Tanguy, Delphine, Bouzigues, Arabella, Sezer, Idil, Ferrand‐Verdejo, Johan, Azuar, Carole, Bendetowicz, David, Carle, Guilhem, Rametti‐Lacroux, Armelle, Bombois, Stéphanie, Cognat, Emmanuel, Jannin, Pierre, Morandi, Xavier, Ber, Isabelle Le, Levy, Richard, Batrancourt, Bénédicte, Migliaccio, Raffaella

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Loss of function of C9orf72 causes motor deficits in a zebrafish model of amyotrophic lateral sclerosis von Ciura, Sorana, Lattante, Serena, Le Ber, Isabelle, Latouche, Morwena, Tostivint, Hervé, Brice, Alexis, Kabashi, Edor

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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, Benoît, Fluchère, Frédérique, Auvin, Stéphane, Myers, Peter, Gelot, Antoinette, Camuzat, Agnès, Caillaud, Catherine, Jornéa, Ludmila, Forlani, Sylvie, Saracino, Dario, Duyckaerts, Charles, Brice, Alexis, Durr, Alexandra, Le Ber, Isabelle

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A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement von BANNWARTH, Sylvie, AIT-EL-MKADEM, Samira, VERSCHUEREN, Annie, ROUZIER, Cecile, LE BER, Isabelle, AUGE, Gaëlle, COCHAUD, Charlotte, LESPINASSE, Françoise, N'GUYEN, Karine, DE SEPTENVILLE, Anne, BRICE, Alexis, YU-WAI-MAN, Patrick, CHAUSSENOT, Annabelle, SESAKI, Hiromi, POUGET, Jean, PAQUIS-FLUCKLINGER, Véronique, GENIN, Emmanuelle C, LACAS-GERVAIS, Sandra, FRAGAKI, Konstantina, BERG-ALONSO, Laetitia, KAGEYAMA, Yusuke, SERRE, Valérie, MOORE, David G

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A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia von Coutelier, Marie, Blesneac, Iulia, Monteil, Arnaud, Monin, Marie-Lorraine, Ando, Kunie, Mundwiller, Emeline, Brusco, Alfredo, Le Ber, Isabelle, Anheim, Mathieu, Castrioto, Anna, Duyckaerts, Charles, Brice, Alexis, Durr, Alexandra, Lory, Philippe, Stevanin, Giovanni

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Reply: Early-onset phenotype of bi-allelic GRN mutations von Huin, Vincent, Barbier, Mathieu, Durr, Alexandra, Isabelle Le Ber

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Presymptomatic spinal cord pathology in c9orf72 mutation carriers: A longitudinal neuroimaging study von Querin, Giorgia, Bede, Peter, El Mendili, Mohamed Mounir, Li, Menghan, Pélégrini‐Issac, Mélanie, Rinaldi, Daisy, Catala, Martin, Saracino, Dario, Salachas, François, Camuzat, Agnes, Marchand‐Pauvert, Véronique, Cohen‐Adad, Julien, Colliot, Olivier, Le Ber, Isabelle, Pradat, Pierre‐François

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Quantitative assessment of the evolution of cerebellar signs in spinocerebellar ataxias von Chan, Ellis, Charles, Perrine, Ribai, Pascale, Goizet, Cyril, Marelli, Cecilia, Vincitorio, Carlo-Maria, Bayon, Alice Le, Guyant-Maréchal, Lucie, Vandenberghe, Nadia, Anheim, Mathieu, Devos, David, Freeman, Leorah, Ber, Isabelle Le, N'Guyen, Karine, Tchikviladzé, Maya, Labauge, Pierre, Hannequin, Didier, Brice, Alexis, Durr, Alexandra, du Montcel, Sophie Tezenas

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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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Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification von NICOLAS, Gaël, POTTIER, Cyril, MARTINAUD, Olivier, DEFEBVRE, Luc, KRYSTKOWIAK, Pierre, PARIENTE, Jérémie, CLANET, Michel, LABAUGE, Pierre, AYRIGNAC, Xavier, LEFAUCHEUR, Romain, LE BER, Isabelle, FREBOURG, Thierry, MALTETE, David, HANNEQUIN, Didier, CAMPION, Dominique, COUTANT, Sophie, ROVELET-LECRUX, Anne, LEGALLIC, Solenn, ROUSSEAU, Stéphane, VASCHALDE, Yvan, GUYANT-MARECHAL, Lucie, AUGUSTIN, Jérôme

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Disease Progression Score Estimation From Multimodal Imaging and MicroRNA Data Using Supervised Variational Autoencoders von Kmetzsch, Virgilio, Becker, Emmanuelle, Saracino, Dario, Rinaldi, Daisy, Camuzat, Agnes, Le Ber, Isabelle, Colliot, Olivier

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C9orf72 repeat expansions are a rare genetic cause of parkinsonism von LESAGE, Suzanne, LE BER, Isabelle, ROULEAU, Guy A, DÜRR, Alexandra, BRICE, Alexis, CONDROYER, Christel, BROUSSOLLE, Emmanuel, GABELLE, Audrey, THOBOIS, Stéphane, PASQUIER, Florence, MONDON, Karl, DION, Patrick A, ROCHEFORT, Daniel

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Screening of CHCHD10 in a French cohort confirms the involvement of this gene in frontotemporal dementia with amyotrophic lateral sclerosis patients von Chaussenot, Annabelle, Le Ber, Isabelle, Ait-El-Mkadem, Samira, Camuzat, Agnès, de Septenville, Anne, Bannwarth, Sylvie, Genin, Emmanuelle C, Serre, Valérie, Augé, Gaëlle, Brice, Alexis, Pouget, Jean, Paquis-Flucklinger, Véronique

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