Are Frontal Cognitive and Atrophy Patterns Different in PSP and bvFTD? A Comparative Neuropsychological and VBM Study

Por Lagarde, Julien, Valabrègue, Romain, Corvol, Jean-Christophe, Pineau, Fanny, Le Ber, Isabelle, Vidailhet, Marie, Dubois, Bruno, Levy, Richard
Publicado em 2013

White matter lesions in FTLD: distinct phenotypes characterize GRN and C9ORF72 mutations

Por Ameur, Fatima, Colliot, Olivier, Caroppo, Paola, Ströer, Sebastian, Dormont, Didier, Brice, Alexis, Azuar, Carole, Dubois, Bruno, Le Ber, Isabelle, Bertrand, Anne
Publicado no Neurol Genet (2016)

Homozygous TREM2 mutation in a family with atypical frontotemporal dementia

Por 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
Publicado em 2014

C9orf72 repeat expansions are a rare genetic cause of parkinsonism

Por Lesage, Suzanne, Le Ber, Isabelle, Condroyer, Christel, Broussolle, Emmanuel, Gabelle, Audrey, Thobois, Stéphane, Pasquier, Florence, Mondon, Karl, Dion, Patrick A., Rochefort, Daniel, Rouleau, Guy A., Dürr, Alexandra, Brice, Alexis
Publicado em 2013

A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia

Por 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
Publicado no Am J Hum Genet (2015)

SQSTM1 Mutations in French Patients With Frontotemporal Dementia or Frontotemporal Dementia With Amyotrophic Lateral Sclerosis

Por 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
Publicado em 2013

Semantic and nonfluent aphasic variants, secondarily associated with amyotrophic lateral sclerosis, are predominant frontotemporal lobar degeneration phenotypes in TBK1 carriers

Por 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
Publicado no Alzheimers Dement (Amst) (2015)

Reduced Tau protein expression is associated with frontotemporal degeneration with progranulin mutation

Por 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
Publicado no Acta Neuropathol Commun (2016)

Identification of partial SLC20A2 deletions in primary brain calcification using whole-exome sequencing

Por David, Stéphanie, Ferreira, Joana, Quenez, Olivier, Rovelet-Lecrux, Anne, Richard, Anne-Claire, Vérin, Marc, Jurici, Snejana, Le Ber, Isabelle, Boland, Anne, Deleuze, Jean- François, Frebourg, Thierry, Mendes de Oliveira, João Ricardo, Hannequin, Didier, Campion, Dominique, Nicolas, Gaël
Publicado no Eur J Hum Genet (2016)

A genome-wide study reveals rare CNVs exclusive to extreme phenotypes of Alzheimer disease

Por Rovelet-Lecrux, Anne, Legallic, Solenn, Wallon, David, Flaman, Jean-Michel, Martinaud, Olivier, Bombois, Stéphanie, Rollin-Sillaire, Adeline, Michon, Agnès, Le Ber, Isabelle, Pariente, Jérémie, Puel, Michèle, Paquet, Claire, Croisile, Bernard, Thomas-Antérion, Catherine, Vercelletto, Martine, Lévy, Richard, Frébourg, Thierry, Hannequin, Didier, Campion, Dominique
Publicado em 2012

Defining the spectrum of frontotemporal dementias associated with TARDBP mutations

Por 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
Publicado no Neurol Genet (2016)

Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathways

Por Mancini, Cecilia, Roncaglia, Paola, Brussino, Alessandro, Stevanin, Giovanni, Lo Buono, Nicola, Krmac, Helena, Maltecca, Francesca, Gazzano, Elena, Bartoletti Stella, Anna, Calvaruso, Maria Antonietta, Iommarini, Luisa, Cagnoli, Claudia, Forlani, Sylvie, Le Ber, Isabelle, Durr, Alexandra, Brice, Alexis, Ghigo, Dario, Casari, Giorgio, Porcelli, Anna Maria, Funaro, Ada, Gasparre, Giuseppe, Gustincich, Stefano, Brusco, Alfredo
Publicado em 2013

Contribution of ATXN2 intermediary polyQ expansions in a spectrum of neurodegenerative disorders

Por 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
Publicado em 2014

Lateral Temporal Lobe: An Early Imaging Marker of the Presymptomatic GRN Disease?

Por Caroppo, Paola, Habert, Marie-Odile, Durrleman, Stanley, Funkiewiez, Aurélie, Perlbarg, Vincent, Hahn, Valérie, Bertin, Hugo, Gaubert, Malo, Routier, Alexandre, Hannequin, Didier, Deramecourt, Vincent, Pasquier, Florence, Rivaud-Pechoux, Sophie, Vercelletto, Martine, Edouart, Geoffrey, Valabregue, Romain, Lejeune, Pascal, Didic, Mira, Corvol, Jean-Christophe, Benali, Habib, Lehericy, Stephane, Dubois, Bruno, Colliot, Olivier, Brice, Alexis, Le Ber, Isabelle
Publicado no J Alzheimers Dis (2015)

A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement

Por Bannwarth, Sylvie, Ait-El-Mkadem, Samira, Chaussenot, Annabelle, Genin, Emmanuelle C., Lacas-Gervais, Sandra, Fragaki, Konstantina, Berg-Alonso, Laetitia, Kageyama, Yusuke, Serre, Valérie, Moore, David G., Verschueren, Annie, Rouzier, Cécile, Le Ber, Isabelle, Augé, Gaëlle, Cochaud, Charlotte, Lespinasse, Françoise, N’Guyen, Karine, de Septenville, Anne, Brice, Alexis, Yu-Wai-Man, Patrick, Sesaki, Hiromi, Pouget, Jean, Paquis-Flucklinger, Véronique
Publicado em 2014

Genetic Analysis of Inherited Leukodystrophies: Genotype-Phenotype Correlations in the CSF1R Gene

Por 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
Publicado em 2013

Reply: Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease

Por Bannwarth, Sylvie, Ait-El-Mkadem, Samira, Chaussenot, Annabelle, Genin, Emmanuelle C., Lacas-Gervais, Sandra, Fragaki, Konstantina, Berg-Alonso, Laetitia, Kageyama, Yusuke, Serre, Valérie, Moore, David, Verschueren, Annie, Rouzier, Cécile, Le Ber, Isabelle, Augé, Gaëlle, Cochaud, Charlotte, Lespinasse, Françoise, N’Guyen, Karine, de Septenville, Anne, Brice, Alexis, Yu-Wai-Man, Patrick, Sesaki, Hiromi, Pouget, Jean, Paquis-Flucklinger, Véronique
Publicado no Brain (2014)

Reply: Are CHCHD10 mutations indeed associated with familial amyotrophic lateral sclerosis?

Por Bannwarth, Sylvie, Ait-El-Mkadem, Samira, Chaussenot, Annabelle, Genin, Emmanuelle C., Lacas-Gervais, Sandra, Fragaki, Konstantina, Berg-Alonso, Laetitia, Kageyama, Yusuke, Serre, Valérie, Moore, David, Verschueren, Annie, Rouzier, Cécile, Le Ber, Isabelle, Augé, Gaëlle, Cochaud, Charlotte, Lespinasse, Françoise, N’Guyen, Karine, de Septenville, Anne, Brice, Alexis, Yu-Wai-Man, Patrick, Sesaki, Hiromi, Pouget, Jean, Paquis-Flucklinger, Véronique
Publicado no Brain (2014)

Reply: CHCHD10 mutations in Italian patients with sporadic amyotrophic lateral sclerosis

Por Bannwarth, Sylvie, Ait-El-Mkadem, Samira, Chaussenot, Annabelle, Genin, Emmanuelle C., Lacas-Gervais, Sandra, Fragaki, Konstantina, Berg-Alonso, Laetitia, Kageyama, Yusuke, Serre, Valérie, Moore, David, Verschueren, Annie, Rouzier, Cécile, Le Ber, Isabelle, Augé, Gaëlle, Cochaud, Charlotte, Lespinasse, Françoise, N’Guyen, Karine, de Septenville, Anne, Brice, Alexis, Yu-Wai-Man, Patrick, Sesaki, Hiromi, Pouget, Jean, Paquis-Flucklinger, Véronique
Publicado no Brain (2015)

Reply: A distinct clinical phenotype in a German kindred with motor neuron disease carrying a CHCHD10 mutation

Por Bannwarth, Sylvie, Ait-El-Mkadem, Samira, Chaussenot, Annabelle, Genin, Emmanuelle C., Lacas-Gervais, Sandra, Fragaki, Konstantina, Berg-Alonso, Laetitia, Kageyama, Yusuke, Serre, Valérie, Moore, David, Verschueren, Annie, Rouzier, Cécile, Le Ber, Isabelle, Augé, Gaëlle, Cochaud, Charlotte, Lespinasse, Françoise, N’Guyen, Karine, de Septenville, Anne, Brice, Alexis, Yu-Wai-Man, Patrick, Sesaki, Hiromi, Pouget, Jean, Paquis-Flucklinger, Véronique
Publicado no Brain (2015)