Search Results - "Barbier, Mathieu"

Response to Park et al by Barbier, Mathieu, Davoine, Claire Sophie, Brice, Alexis, Durr, Alexandra

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MFAP5 Loss-of-Function Mutations Underscore the Involvement of Matrix Alteration in the Pathogenesis of Familial Thoracic Aortic Aneurysms and Dissections by Barbier, Mathieu, Gross, Marie-Sylvie, Aubart, Mélodie, Hanna, Nadine, Kessler, Ketty, Guo, Dong-Chuan, Tosolini, Laurent, Ho-Tin-Noe, Benoit, Regalado, Ellen, Varret, Mathilde, Abifadel, Marianne, Milleron, Olivier, Odent, Sylvie, Dupuis-Girod, Sophie, Faivre, Laurence, Edouard, Thomas, Dulac, Yves, Busa, Tiffany, Gouya, Laurent, Milewicz, Dianna M., Jondeau, Guillaume, Boileau, Catherine

“…Thoracic aortic aneurysm and dissection (TAAD) is an autosomal-dominant disorder with major life-threatening complications. The disease displays great genetic…”
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Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment by 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

“…Purpose Pathogenic variants in STUB1 were initially described in autosomal recessive spinocerebellar ataxia type 16 and dominant cerebellar ataxia with…”
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C9ORF72 knockdown triggers FTD-like symptoms and cell pathology in mice by 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

“…The GGGGCC intronic repeat expansion within is the most common genetic cause of ALS and FTD. This mutation results in toxic gain of function through…”
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CYP4F2 affects phenotypic outcome in adrenoleukodystrophy by modulating the clearance of very long-chain fatty acids by 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

“…X-linked adrenoleukodystrophy (ALD) is a severe neurodegenerative disorder caused by the accumulation of very long-chain fatty acids (VLCFA) due to mutations…”
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Interrupted CAG expansions in ATXN2 gene expand the genetic spectrum of frontotemporal dementias by 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

“…[...]Lewy bodies and 1C2-positive inclusions in substantia nigra, pontine nuclei and cerebellum, described in few parkinsonian patients [9], were absent in our…”
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Platelets alter gene expression profile in human brain endothelial cells in an in vitro model of cerebral malaria by 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

“…Platelet adhesion to the brain microvasculature has been associated with cerebral malaria (CM) in humans, suggesting that platelets play a role in the…”
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Gene expression analysis reveals early changes in several molecular pathways in cerebral malaria-susceptible mice versus cerebral malaria-resistant mice by Delahaye, Nicolas F, Coltel, Nicolas, Puthier, Denis, Barbier, Mathieu, Benech, Philippe, Joly, Florence, Iraqi, Fuad A, Grau, Georges E, Nguyen, Catherine, Rihet, Pascal

“…Microarray analyses allow the identification and assessment of molecular signatures in whole tissues undergoing pathological processes. To better understand…”
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CD1 gene polymorphisms and phenotypic variability in X-linked adrenoleukodystrophy by Barbier, Mathieu, Sabbagh, Audrey, Kasper, Edwige, Asheuer, Muriel, Ahouansou, Ornella, Pribill, Ingrid, Forss-Petter, Sonja, Vidaud, Michel, Berger, Johannes, Aubourg, Patrick

“…X-linked adrenoleukodystrophy (X-ALD) is characterized by marked phenotypic variation ranging from adrenomyeloneuropathy (AMN) to childhood cerebral ALD…”
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Reply: Two heterozygous progranulin mutations in progressive supranuclear palsy by Huin, Vincent, Barbier, Mathieu, Durr, Alexandra, Le Ber, Isabelle

“…We would like to reply to Yang et al., 2020, reporting a patient diagnosed with progressive supranuclear palsy (PSP) who carried two novel heterozygous…”
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Reply: Early-onset phenotype of bi-allelic GRN mutations by Huin, Vincent, Barbier, Mathieu, Durr, Alexandra, Le Ber, Isabelle

“…We would like to reply to Neuray et al. who report a series of five new patients from four unrelated families with bi-allelic mutations of GRN. Their work…”
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Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanisms by 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

“…Homozygous mutations in the progranulin gene (GRN) are associated with neuronal ceroid lipofuscinosis 11 (CLN11), a rare lysosomal-storage disorder…”
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Spastic paraplegia due to SPAST mutations is modified by the underlying mutation and sex by 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

“…Mutations in SPAST, which encodes spastin, give rise to spastic paraplegia 4 (SPG4). Parodi et al. present genetic and clinical data for 842 patients and…”
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A Methodology for Model-Based Validation of Autonomous Vehicle Systems by Hejase, Mohammad, Ozguner, Umit, Barbier, Mathieu, Ibanez-Guzman, Javier

“…The deployment of autonomous vehicles requires safety assurance and performance guarantees of the developed system. However, this is complex due to the number…”
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X-linked adrenoleukodystrophy in women: a cross-sectional cohort study by 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

“…X-linked adrenoleukodystrophy is the most common peroxisomal disorder. The disease is caused by mutations in the ABCD1 gene that encodes the peroxisomal…”
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Intermediate repeat expansions of TBP and STUB1: Genetic modifier or pure digenic inheritance in spinocerebellar ataxias? by 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

“…CAG/CAA repeat expansions in TBP>49 are responsible for spinocerebellar ataxia (SCA) type 17 (SCA17). We previously detected cosegregation of STUB1 variants…”
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Plasma progranulin levels for frontotemporal dementia in clinical practice: a 10-year French experience by 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

“…GRN mutations are frequent causes of familial frontotemporal degeneration. Although there is no clear consensual threshold, plasma progranulin levels represent…”
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Monogenic inheritance in early-onset dementia: illustration in Alzheimer's disease and frontotemporal lobar dementia by Barbier, Mathieu, Wallon, David, Le Ber, Isabelle

“…Early-onset Alzheimer's disease (EOAD) and frontotemporal lobar dementia (FTLD) account for the majority of early-onset dementia (onset before 65 years). The…”
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The mitochondrial seryl-tRNA synthetase SARS2 modifies onset in spastic paraplegia type 4 by 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

“…Hereditary spastic paraplegia type 4 is extremely variable in age at onset; the same variant can cause onset at birth or in the eighth decade. We recently…”
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Relations between C9orf72 expansion size in blood, age at onset, age at collection and transmission across generations in patients and presymptomatic carriers by 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

“…A (GGGGCC)n repeat expansion in C9orf72 gene is the major cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). The relations between…”
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