Response to Park et al
Barbier, Mathieu, Davoine, Claire Sophie, Brice, Alexis, Durr, Alexandra
Published in Genetics in medicine (01.06.2021)
Published in Genetics in medicine (01.06.2021)
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Journal Article
Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment
Roux, Thomas, Barbier, Mathieu, Papin, Mélanie, Davoine, Claire-Sophie, Sayah, Sabrina, Coarelli, Giulia, Charles, Perrine, Marelli, Cecilia, Parodi, Livia, Tranchant, Christine, Goizet, Cyril, Klebe, Stephan, Lohmann, Ebba, Van Maldergem, Lionel, van Broeckhoven, Christine, Coutelier, Marie, Tesson, Christelle, Stevanin, Giovanni, Duyckaerts, Charles, Brice, Alexis, Durr, Alexandra
Published in Genetics in medicine (01.11.2020)
Published in Genetics in medicine (01.11.2020)
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Journal Article
C9ORF72 knockdown triggers FTD-like symptoms and cell pathology in mice
Lopez-Herdoiza, Maria-Belen, Bauché, Stephanie, Wilmet, Baptiste, Le Duigou, Caroline, Roussel, Delphine, Frah, Magali, Béal, Jonas, Devely, Gabin, Boluda, Susana, Frick, Petra, Bouteiller, Delphine, Dussaud, Sébastien, Guillabert, Pierre, Dalle, Carine, Dumont, Magali, Camuzat, Agnes, Saracino, Dario, Barbier, Mathieu, Bruneteau, Gaelle, Ravassard, Phillippe, Neumann, Manuela, Nicole, Sophie, Le Ber, Isabelle, Brice, Alexis, Latouche, Morwena
Published in Frontiers in cellular neuroscience (17.04.2023)
Published in Frontiers in cellular neuroscience (17.04.2023)
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Journal Article
CYP4F2 affects phenotypic outcome in adrenoleukodystrophy by modulating the clearance of very long-chain fatty acids
van Engen, Catherine E., Ofman, Rob, Dijkstra, Inge M.E., van Goethem, Tessa Jacobs, Verheij, Eveline, Varin, Jennifer, Vidaud, Michel, Wanders, Ronald J.A., Aubourg, Patrick, Kemp, Stephan, Barbier, Mathieu
Published in Biochimica et biophysica acta (01.10.2016)
Published in Biochimica et biophysica acta (01.10.2016)
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Journal Article
Interrupted CAG expansions in ATXN2 gene expand the genetic spectrum of frontotemporal dementias
Fournier, Clémence, Anquetil, Vincent, Camuzat, Agnès, Stirati-Buron, Sandrine, Sazdovitch, Véronique, Molina-Porcel, Laura, Turbant, Sabrina, Rinaldi, Daisy, Sánchez-Valle, Raquel, Barbier, Mathieu, Latouche, Morwena, Stevanin, Giovanni, Seilhean, Danielle, Brice, Alexis, Duyckaerts, Charles, Le Ber, Isabelle
Published in Acta neuropathologica communications (30.05.2018)
Published in Acta neuropathologica communications (30.05.2018)
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Journal Article
Platelets alter gene expression profile in human brain endothelial cells in an in vitro model of cerebral malaria
Barbier, Mathieu, Faille, Dorothée, Loriod, Béatrice, Textoris, Julien, Camus, Claire, Puthier, Denis, Flori, Laurence, Wassmer, Samuel Crocodile, Victorero, Geneviève, Alessi, Marie-Christine, Fusaï, Thierry, Nguyen, Catherine, Grau, Georges E, Rihet, Pascal
Published in PloS one (16.05.2011)
Published in PloS one (16.05.2011)
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Journal Article
Gene expression analysis reveals early changes in several molecular pathways in cerebral malaria-susceptible mice versus cerebral malaria-resistant mice
Delahaye, Nicolas F, Coltel, Nicolas, Puthier, Denis, Barbier, Mathieu, Benech, Philippe, Joly, Florence, Iraqi, Fuad A, Grau, Georges E, Nguyen, Catherine, Rihet, Pascal
Published in BMC genomics (06.12.2007)
Published in BMC genomics (06.12.2007)
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Journal Article
CD1 gene polymorphisms and phenotypic variability in X-linked adrenoleukodystrophy
Barbier, Mathieu, Sabbagh, Audrey, Kasper, Edwige, Asheuer, Muriel, Ahouansou, Ornella, Pribill, Ingrid, Forss-Petter, Sonja, Vidaud, Michel, Berger, Johannes, Aubourg, Patrick
Published in PloS one (12.01.2012)
Published in PloS one (12.01.2012)
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Journal Article
Reply: Two heterozygous progranulin mutations in progressive supranuclear palsy
Huin, Vincent, Barbier, Mathieu, Durr, Alexandra, Le Ber, Isabelle
Published in Brain (London, England : 1878) (12.04.2021)
Published in Brain (London, England : 1878) (12.04.2021)
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Journal Article
Reply: Early-onset phenotype of bi-allelic GRN mutations
Huin, Vincent, Barbier, Mathieu, Durr, Alexandra, Le Ber, Isabelle
Published in Brain (London, England : 1878) (03.03.2021)
Published in Brain (London, England : 1878) (03.03.2021)
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Journal Article
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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Journal Article
A Methodology for Model-Based Validation of Autonomous Vehicle Systems
Hejase, Mohammad, Ozguner, Umit, Barbier, Mathieu, Ibanez-Guzman, Javier
Published in 2020 IEEE Intelligent Vehicles Symposium (IV) (19.10.2020)
Published in 2020 IEEE Intelligent Vehicles Symposium (IV) (19.10.2020)
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Conference Proceeding
X-linked adrenoleukodystrophy in women: a cross-sectional cohort study
ENGELEN, Marc, BARBIER, Mathieu, DE VISSER, Marianne, POLL-THE, Bwee T, KEMP, Stephan, DIJKSTRA, Inge M. E, SCHÜR, Remmelt, DE BIE, Rob M. A, VERHAMME, Camiel, DIJKGRAAF, Marcel G. W, AUBOURG, Patrick A, WANDERS, Ronald J. A, VAN GEEL, Bjorn M
Published in Brain (London, England : 1878) (01.03.2014)
Published in Brain (London, England : 1878) (01.03.2014)
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Journal Article
Spastic paraplegia due to SPAST mutations is modified by the underlying mutation and sex
Parodi, Livia, Fenu, Silvia, Barbier, Mathieu, Banneau, Guillaume, Duyckaerts, Charles, Tezenas du Montcel, Sophie, Monin, Marie-Lorraine, Ait Said, Samia, Guegan, Justine, Tallaksen, Chantal M E, Sablonniere, Bertrand, Brice, Alexis, Stevanin, Giovanni, Depienne, Christel, Durr, Alexandra
Published in Brain (London, England : 1878) (01.12.2018)
Published in Brain (London, England : 1878) (01.12.2018)
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Journal Article
Intermediate repeat expansions of TBP and STUB1: Genetic modifier or pure digenic inheritance in spinocerebellar ataxias?
Barbier, Mathieu, Davoine, Claire-Sophie, Petit, Emilien, Porché, Maximilien, Guillot-Noel, Léna, Sayah, Sabrina, Fauret, Anne-Laure, Neau, Jean-Philippe, Guyant-Maréchal, Lucie, Deffond, Didier, Tranchant, Christine, Goizet, Cyril, Coarelli, Giulia, Castrioto, Anna, Klebe, Stephan, Ewenczyk, Claire, Heinzmann, Anna, Charles, Perrine, Tchikviladzé, Maya, Van Broeckhoven, Christine, Brice, Alexis, Durr, Alexandra
Published in Genetics in medicine (01.02.2023)
Published in Genetics in medicine (01.02.2023)
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Journal Article
Plasma progranulin levels for frontotemporal dementia in clinical practice: a 10-year French experience
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
Published in Neurobiology of aging (01.07.2020)
Published in Neurobiology of aging (01.07.2020)
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Journal Article
Relations between C9orf72 expansion size in blood, age at onset, age at collection and transmission across generations in patients and presymptomatic carriers
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
Published in Neurobiology of aging (01.02.2019)
Published in Neurobiology of aging (01.02.2019)
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Journal Article
The mitochondrial seryl-tRNA synthetase SARS2 modifies onset in spastic paraplegia type 4
Parodi, Livia, Barbier, Mathieu, Jacoupy, Maxime, Pujol, Claire, Lejeune, François-Xavier, Lallemant-Dudek, Pauline, Esteves, Typhaine, Pennings, Maartje, Kamsteeg, Erik-Jan, Guillaud-Bataille, Marine, Banneau, Guillaume, Coarelli, Giulia, Oumoussa, Badreddine Mohand, Fraidakis, Matthew J., Stevanin, Giovanni, Depienne, Christel, van de Warrenburg, Bart, Brice, Alexis, Durr, Alexandra
Published in Genetics in medicine (01.11.2022)
Published in Genetics in medicine (01.11.2022)
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Journal Article
Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25
Barbier, Mathieu, Bahlo, Melanie, Pennisi, Alessandra, Jacoupy, Maxime, Tankard, Rick M., Ewenczyk, Claire, Davies, Kayli C., Lino‐Coulon, Patricia, Colace, Claire, Rafehi, Haloom, Auger, Nicolas, Ansell, Brendan R. E., Stelt, Ivo, Howell, Katherine B., Coutelier, Marie, Amor, David J., Mundwiller, Emeline, Guillot‐Noël, Lena, Storey, Elsdon, Gardner, R. J. McKinlay, Wallis, Mathew J., Brusco, Alfredo, Corti, Olga, Rötig, Agnès, Leventer, Richard J., Brice, Alexis, Delatycki, Martin B., Stevanin, Giovanni, Lockhart, Paul J., Durr, Alexandra
Published in Annals of neurology (01.07.2022)
Published in Annals of neurology (01.07.2022)
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Journal Article