Plasma NfL levels and longitudinal change rates in C9orf72 and GRN-associated diseases: from tailored references to clinical applications
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, Auriacombe, Sophie, Belliard, Serge, Blanc, Frédéric, Boutoleau-Bretonnière, Claire, Brice, Alexis, Ceccaldi, Mathieu, Couratier, Philippe, Didic, Mira, Dubois, Bruno, Duyckaerts, Charles, Etcharry-Bouyx, Frédérique, Formaglio, Maïté, Golfier, Véronique, Hannequin, Didier, Lacomblez, Lucette, Ber, Isabelle Le, Michel, Bernard-François, Pariente, Jérémie, Pasquier, Florence, Rinaldi, Daisy, Sauvée, Mathilde, Sellal, François, Thauvin-Robinet, Christel, Thomas-Anterion, Catherine, Vercelletto, Martine, Auffray-Calvier, Elisabeth, Bardinet, Eric, Benchetrit, Eve, Berry, Isabelle, Bertin, Hugo, Bertrand, Anne, Bissery, Anne, Bombois, Stéphanie, Boncoeur, Marie-Paule, Camuzat, Agnès, Causse-Lemercier, Valérie, Chastan, Mathieu, Chen, Yaohua, Chupin, Marie, Colliot, Olivier, Delbeuck, Xavier, Delmaire, Christine, Deramecourt, Vincent, Funkiewiez, Aurélie, Gerardin, Emmanuel, Girard, Nadine, Guedj, Eric, Habert, Marie-Odile, Kas, Aurélie, Kuchinski, Gregory, Lautrette, Géraldine, Toullec, Benjamin Le, Mackowiak, Marie-Anne, Martinaud, Olivier, Masmanian, Merry, Monteil, Jacques, Oya, Assi-Hervé, Pallardy, Amandine, Petyt, Grégory, Payoux, Pierre, Rollin-Sillaire, Adeline, Sayah, Sabrina, Wallon, David
Published in Journal of neurology, neurosurgery and psychiatry (01.12.2021)
Published in Journal of neurology, neurosurgery and psychiatry (01.12.2021)
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Neurofilament light chain: a biomarker for genetic frontotemporal dementia
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.
Published in Annals of clinical and translational neurology (01.08.2016)
Published in Annals of clinical and translational neurology (01.08.2016)
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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
Viodé, Arthur, Fournier, Clémence, Camuzat, Agnès, Fenaille, François, Latouche, Morwena, Elahi, Fanny, Le Ber, Isabelle, Junot, Christophe, Lamari, Foudil, Anquetil, Vincent, Becher, François
Published in Frontiers in neuroscience (28.08.2018)
Published in Frontiers in neuroscience (28.08.2018)
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Demographic, neurological and behavioural characteristics and brain perfusion SPECT in frontal variant of frontotemporal dementia
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
Published in Brain (London, England : 1878) (01.11.2006)
Published in Brain (London, England : 1878) (01.11.2006)
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Frontotemporal dementia subtypes based on behavioral inhibition deficits
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
Published in Alzheimer's & dementia : diagnosis, assessment & disease monitoring (2021)
Published in Alzheimer's & dementia : diagnosis, assessment & disease monitoring (2021)
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Quantitative assessment of the evolution of cerebellar signs in spinocerebellar ataxias
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
Published in Movement disorders (15.02.2011)
Published in Movement disorders (15.02.2011)
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A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia
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
Published in American journal of human genetics (05.11.2015)
Published in American journal of human genetics (05.11.2015)
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Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanisms
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
Published in Brain (London, England : 1878) (01.01.2020)
Published in Brain (London, England : 1878) (01.01.2020)
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A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement
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
Published in Brain (London, England : 1878) (01.08.2014)
Published in Brain (London, England : 1878) (01.08.2014)
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Plasma microRNA signature in presymptomatic and symptomatic subjects with C9orf72-associated frontotemporal dementia and amyotrophic lateral sclerosis
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
Published in Journal of neurology, neurosurgery and psychiatry (01.05.2021)
Published in Journal of neurology, neurosurgery and psychiatry (01.05.2021)
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Questioning the causality of HTT CAG-repeat expansions in FTD/ALS
Thomas, Quentin, Coarelli, Giulia, Heinzmann, Anna, Le Ber, Isabelle, Amador, Maria del Mar, Durr, Alexandra
Published in Neuron (Cambridge, Mass.) (16.06.2021)
Published in Neuron (Cambridge, Mass.) (16.06.2021)
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Presymptomatic spinal cord pathology in c9orf72 mutation carriers: A longitudinal neuroimaging study
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
Published in Annals of neurology (01.08.2019)
Published in Annals of neurology (01.08.2019)
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Homozygous TREM2 mutation in a family with atypical frontotemporal dementia
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
Published in Neurobiology of aging (01.10.2014)
Published in Neurobiology of aging (01.10.2014)
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Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification
Nicolas, Gaël, Pottier, Cyril, Maltête, David, Coutant, Sophie, Rovelet-Lecrux, Anne, Legallic, Solenn, Rousseau, Stéphane, Vaschalde, Yvan, Guyant-Maréchal, Lucie, Augustin, Jérôme, Martinaud, Olivier, Defebvre, Luc, Krystkowiak, Pierre, Pariente, Jérémie, Clanet, Michel, Labauge, Pierre, Ayrignac, Xavier, Lefaucheur, Romain, Le Ber, Isabelle, Frébourg, Thierry, Hannequin, Didier, Campion, Dominique
Published in Neurology (08.01.2013)
Published in Neurology (08.01.2013)
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Neurite density is reduced in the presymptomatic phase of C9orf72 disease
Wen, Junhao, Zhang, Hui, Alexander, Daniel C, Durrleman, Stanley, Routier, Alexandre, Rinaldi, Daisy, Houot, Marion, Couratier, Philippe, Hannequin, Didier, Pasquier, Florence, Zhang, Jiaying, Colliot, Olivier, Le Ber, Isabelle, Bertrand, Anne
Published in Journal of neurology, neurosurgery and psychiatry (01.04.2019)
Published in Journal of neurology, neurosurgery and psychiatry (01.04.2019)
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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
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
Published in Neurobiology of aging (01.12.2014)
Published in Neurobiology of aging (01.12.2014)
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C9orf72 repeat expansions are a rare genetic cause of parkinsonism
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
Published in Brain (London, England : 1878) (01.02.2013)
Published in Brain (London, England : 1878) (01.02.2013)
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Disease Progression Score Estimation From Multimodal Imaging and MicroRNA Data Using Supervised Variational Autoencoders
Kmetzsch, Virgilio, Becker, Emmanuelle, Saracino, Dario, Rinaldi, Daisy, Camuzat, Agnes, Le Ber, Isabelle, Colliot, Olivier
Published in IEEE journal of biomedical and health informatics (01.12.2022)
Published in IEEE journal of biomedical and health informatics (01.12.2022)
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TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration
Benajiba, Lina, Le Ber, Isabelle, Camuzat, Agnès, Lacoste, Mathieu, Thomas-Anterion, Catherine, Couratier, Philippe, Legallic, Solenn, Salachas, François, Hannequin, Didier, Decousus, Marielle, Lacomblez, Lucette, Guedj, Eric, Golfier, Véronique, Camu, William, Dubois, Bruno, Campion, Dominique, Meininger, Vincent, Brice, Alexis
Published in Annals of neurology (01.04.2009)
Published in Annals of neurology (01.04.2009)
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