Search Results - "Davoine, Claire"

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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Anti-PD-(L)1 for KRAS-mutant advanced non-small–cell lung cancers: a meta-analysis of randomized–controlled trials by Landre, Thierry, Justeau, Gregoire, Assié, Jean-Baptiste, Chouahnia, Kader, Davoine, Claire, Taleb, Chérifa, Chouaïd, Christos, Duchemann, Boris

“…Purpose The most frequent mutation in advanced non-small–cell lung cancer (NSCLC), Kirsten rat-sarcoma viral oncogene ( KRAS ) is found in 20–25% of these…”
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Fast and reliable detection of repeat expansions in spinocerebellar ataxia using exomes by Méreaux, Jean-Loup, Davoine, Claire-Sophie, Coutelier, Marie, Guillot-Noël, Léna, Castrioto, Anna, Charles, Perrine, Coarelli, Giulia, Ewenczyk, Claire, Klebe, Stephan, Heinzmann, Anna, Méneret, Aurélie, Fauret-Amsellem, Anne-Laure, de Sainte Agathe, Jean-Madeleine, Brice, Alexis, Durr, Alexandra

“…Usually, molecular diagnosis of spinocerebellar ataxia is based on a step-by-step approach with targeted sizing of four repeat expansions accounting for most…”
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A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies by Coutelier, Marie, Coarelli, Giulia, Monin, Marie-Lorraine, Konop, Juliette, Davoine, Claire-Sophie, Tesson, Christelle, Valter, Rémi, Anheim, Mathieu, Behin, Anthony, Castelnovo, Giovanni, Charles, Perrine, David, Albert, Ewenczyk, Claire, Fradin, Mélanie, Goizet, Cyril, Hannequin, Didier, Labauge, Pierre, Riant, Florence, Sarda, Pierre, Sznajer, Yves, Tison, François, Ullmann, Urielle, Van Maldergem, Lionel, Mochel, Fanny, Brice, Alexis, Stevanin, Giovanni, Durr, Alexandra

“…Autosomal dominant cerebellar ataxias have a marked heterogeneous genetic background, with mutations in 34 genes identified so far. This large amount of…”
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Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7 by Coarelli, Giulia, Schule, Rebecca, van de Warrenburg, Bart P.C, De Jonghe, Peter, Ewenczyk, Claire, Martinuzzi, Andrea, Synofzik, Matthis, Hamer, Elisa G, Baets, Jonathan, Anheim, Mathieu, Schöls, Ludger, Deconinck, Tine, Masrori, Pegah, Fontaine, Bertrand, Klockgether, Thomas, DʼAngelo, Maria Grazia, Monin, Marie-Lorraine, De Bleecker, Jan, Migeotte, Isabelle, Charles, Perrine, Bassi, Maria Teresa, Klopstock, Thomas, Mochel, Fanny, Ollagnon-Roman, Elisabeth, DʼHooghe, Marc, Kamm, Christoph, Kurzwelly, Delia, Papin, Melanie, Davoine, Claire-Sophie, Banneau, Guillaume, Tezenas du Montcel, Sophie, Seilhean, Danielle, Brice, Alexis, Duyckaerts, Charles, Stevanin, Giovanni, Durr, Alexandra

“…OBJECTIVEWe took advantage of a large multinational recruitment to delineate genotype-phenotype correlations in a large, trans-European multicenter cohort of…”
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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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Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy by Bauché, Stéphanie, Vellieux, Geoffroy, Sternberg, Damien, Fontenille, Marie-Joséphine, De Bruyckere, Elodie, Davoine, Claire-Sophie, Brochier, Guy, Messéant, Julien, Wolf, Lucie, Fardeau, Michel, Lacène, Emmanuelle, Romero, Norma, Koenig, Jeanine, Fournier, Emmanuel, Hantaï, Daniel, Streichenberger, Nathalie, Manel, Veronique, Lacour, Arnaud, Nadaj-Pakleza, Aleksandra, Sukno, Sylvie, Bouhour, Françoise, Laforêt, Pascal, Fontaine, Bertrand, Strochlic, Laure, Eymard, Bruno, Chevessier, Frédéric, Stojkovic, Tanya, Nicole, Sophie

“…Mutations in GFPT1 (glutamine-fructose-6-phosphate transaminase 1), a gene encoding an enzyme involved in glycosylation of ubiquitous proteins, cause a…”
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Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions by Méreaux, Jean-Loup, Davoine, Claire-Sophie, Pellerin, David, Coarelli, Giulia, Coutelier, Marie, Ewenczyk, Claire, Monin, Marie-Lorraine, Anheim, Mathieu, Le Ber, Isabelle, Thobois, Stéphane, Gobert, Florent, Guillot-Noël, Léna, Forlani, Sylvie, Jornea, Ludmila, Heinzmann, Anna, Sangare, Aude, Gaymard, Bertrand, Guyant-Maréchal, Lucie, Charles, Perrine, Marelli, Cecilia, Honnorat, Jérôme, Degos, Bertrand, Tison, François, Sangla, Sophie, Simonetta-Moreau, Marion, Salachas, François, Tchikviladzé, Maya, Castelnovo, Giovanni, Mochel, Fanny, Klebe, Stephan, Castrioto, Anna, Fenu, Silvia, Méneret, Aurélie, Bourdain, Frédéric, Wandzel, Marion, Roth, Virginie, Bonnet, Céline, Riant, Florence, Stevanin, Giovanni, Noël, Sandrine, Fauret-Amsellem, Anne-Laure, Bahlo, Melanie, Lockhart, Paul J., Brais, Bernard, Renaud, Mathilde, Brice, Alexis, Durr, Alexandra

“…SCA27B caused by FGF14 intronic heterozygous GAA expansions with at least 250 repeats accounts for 10–60% of cases with unresolved cerebellar ataxia. We aimed…”
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Spectrum of HSPG2 (Perlecan) mutations in patients with Schwartz-Jampel syndrome by Stum, Morgane, Davoine, Claire-Sophie, Vicart, Savine, Guillot-Noël, Léna, Topaloglu, Haluk, Carod-Artal, Francisco Javier, Kayserili, Hülya, Hentati, Fayçal, Merlini, Luciano, Urtizberea, Jon Andoni, Hammouda, EL-Hadi, Quan, Phuc Canh, Fontaine, Bertrand, Nicole, Sophie

“…Schwartz‐Jampel syndrome (SJS) is a rare autosomal recessive condition defined by the association of myotonia with chondrodysplasia. SJS results from mutations…”
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Hereditary Spastic Paraplegia SPG13 Is Associated with a Mutation in the Gene Encoding the Mitochondrial Chaperonin Hsp60 by Hansen, Jens Jacob, Dürr, Alexandra, Cournu-Rebeix, Isabelle, Georgopoulos, Costa, Ang, Debbie, Nielsen, Marit Nyholm, Davoine, Claire-Sophie, Brice, Alexis, Fontaine, Bertrand, Gregersen, Niels, Bross, Peter

“…SPG13, an autosomal dominant form of pure hereditary spastic paraplegia, was recently mapped to chromosome 2q24-34 in a French family. Here we present genetic…”
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Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia by Heilig, Roland, Dürr, Alexandra, Brottier, Philippe, Fontaine, Bertrand, Weissenbach, Jean, Burgunder, Jean-Marc, Paternotte, Caroline, Fonknechten, Nùria, Samson, Delphine, Cruaud, Corinne, Wincker, Patrick, Davoine, Claire-Sophie, Brice, Alexis, Hazan, Jamilé, Cattolico, Laurence, Mavel, Delphine, Artiguenave, François, Barbe, Valérie, Prud'homme, Jean-François

“…Autosomal dominant hereditary spastic paraplegia (AD-HSP) is a genetically heterogeneous neurodegenerative disorder characterized by progressive spasticity of…”
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A Mouse Model of Schwartz-Jampel Syndrome Reveals Myelinating Schwann Cell Dysfunction with Persistent Axonal Depolarization in Vitro and Distal Peripheral Nerve Hyperexcitability When Perlecan Is Lacking by Bangratz, Marie, Sarrazin, Nadège, Devaux, Jérôme, Zambroni, Désirée, Echaniz-Laguna, Andoni, René, Frédérique, Boërio, Delphine, Davoine, Claire-Sophie, Fontaine, Bertrand, Feltri, Maria Laura, Benoit, Evelyne, Nicole, Sophie

“…Congenital peripheral nerve hyperexcitability (PNH) is usually associated with impaired function of voltage-gated K+ channels (VGKCs) in neuromyotonia and…”
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Evidence of a dosage effect and a physiological endplate acetylcholinesterase deficiency in the first mouse models mimicking Schwartz–Jampel syndrome neuromyotonia by Stum, Morgane, Girard, Emmanuelle, Bangratz, Marie, Bernard, Véronique, Herbin, Marc, Vignaud, Alban, Ferry, Arnaud, Davoine, Claire-Sophie, Echaniz-Laguna, Andoni, René, Frédérique, Marcel, Christophe, Molgó, Jordi, Fontaine, Bertrand, Krejci, Eric, Nicole, Sophie

“…Schwartz–Jampel syndrome (SJS) is a recessive neuromyotonia with chondrodysplasia. It results from hypomorphic mutations of the gene encoding perlecan, leading…”
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Peripheral nerve hyperexcitability with preterminal nerve and neuromuscular junction remodeling is a hallmark of Schwartz-Jampel syndrome by Bauché, Stéphanie, Boerio, Delphine, Davoine, Claire-Sophie, Bernard, Véronique, Stum, Morgane, Bureau, Cécile, Fardeau, Michel, Romero, Norma Beatriz, Fontaine, Bertrand, Koenig, Jeanine, Hantaï, Daniel, Gueguen, Antoine, Fournier, Emmanuel, Eymard, Bruno, Nicole, Sophie

“…Abstract Schwartz-Jampel syndrome (SJS) is a recessive disorder with muscle hyperactivity that results from hypomorphic mutations in the perlecan gene, a…”
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Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia) by Hammouda, Hadi, Nicole, Sophie, Topaloglu, Haluk, Weissenbach, Jean, Lehmann-Horn, Franck, Samson, Delphine, Cruaud, Corinne, Hentati, Faycal, Davoine, Claire-Sophie, Beighton, Peter, Barral, Duarte, Fontaine, Bertrand, Urtizberea, J. Andoni, White, Peter S, Cattolico, Laurence, Hamida, Christiane Ben

“…Schwartz-Jampel syndrome (SJS1) is a rare autosomal recessive disorder characterized by permanent myotonia (prolonged failure of muscle relaxation) and…”
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Functional characterization and cold sensitivity of T1313A, a new mutation of the skeletal muscle sodium channel causing paramyotonia congenita in humans by Bouhours, Magali, Sternberg, Damien, Davoine, Claire‐Sophie, Xavier, Ferrer, Willer, Jean Claude, Fontaine, Bertrand, Tabti, Nacira

“…Paramyotonia congenita (PC) is a dominantly inherited skeletal muscle disorder caused by missense mutations in the SCN4A gene encoding the pore-forming α…”
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Corrigendum to ‘Peripheral nerve hyperexcitability with preterminal nerve and neuromuscular junction remodeling is a hallmark of Schwartz-Jampel syndrome’ [Neuromuscul Disord 23 (2013) 998–1009] by Bauché, Stéphanie, Boerio, Delphine, Davoine, Claire-Sophie, Bernard, Véronique, Stum, Morgane, Bureau, Cécile, Fardeau, Michel, Romero, Norma Beatriz, Fontaine, Bertrand, Koenig, Jeanine, Hantaï, Daniel, Gueguen, Antoine, Fournier, Emmanuel, Eymard, Bruno, Nicole, Sophie

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Correction: 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, Durr, Alexandra, Stevanin, Giovanni, Brice, Alexis, Darios, Frédéric, Forlani, Sylvie, Site, Pitié-Salpêtrière, Banneau, Guillaume, Cazeneuve, Cécile, Charles, Perrine, Duyckaerts, Charles, Fontaine, Bertrand, Azulay, Jean-Philippe, Boesfplug-Tanguy, Odile, Goizet, Cyril, Hannequin, Didier, Hazan, Jamilé, Burgo, Andrea, Verny, Christophe, Koenig, Michel, Labauge, Pierre, Marelli, Cecilia, N’guyen, Karine, Rodriguez, Diana, Belarbi, Soraya, Hamri, Abdelmadjid, Tazir, Meriem, Boesch, Sylvia, Pandolfo, Massimo, Laura, Jardim, Guergueltcheva, Velina, Tournev, Ivalo, Pedraza Linarès, Olga Lucia, Nielsen, Jørgen E., Svenstrup, Kirsten, Zaki, Maha, Bauer, Peter, Schöls, Lüdger, Schüle, Rebecca, Lossos, Alexander, Bassi, Maria-Teresa, Basso, Manuela, Bertini, Enrico, Brusco, Alfredo, Casali, Carlo, Casari, Giorgio, Criscuolo, Chiara, Filla, Alessandro, Orsi, Laura, Santorelli, Filippo M., Valente, Enza Maria, Vavla, Marinela, Vazza, Giovanni, Megarbane, André, Benomar, Ali, Kremer, Berry, Van Roon-Mom, Willeke, Roxburgh, Richard, Erichsen, Anne Kjersti, Tallaksen, Chantal, Alonso, Isabel, Coutinho, Paula, Loureiro, José Léal, Sequeiros, Jorge, Salih, Mustapha, Kostic, Vladimir S, Rouco Axpe, Idoia, Elsayed, Liena, Paucar, Martin Arce, Roumani, Samir, Bing-Wen, Soong, Reid, Evan, Suran, Nethisinghe, Warner, Thomas, Wood, Nicholas

“…A Correction to this paper has been published: https://doi.org/10.1038/s41436-020-01064-y…”
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A New Locus for Autosomal Dominant Pure Spastic Paraplegia, on Chromosome 2q24-q34 by Fontaine, Bertrand, Davoine, Claire-Sophie, Dürr, Alexandra, Paternotte, Caroline, Feki, Imed, Weissenbach, Jean, Hazan, Jamilé, Brice, Alexis

“…Hereditary spastic paraplegia (HSP) comprises a group of clinically and genetically heterogeneous disorders causing progressive spasticity and weakness of the…”
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Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia by FONKNECHTEN, N, MAVEL, D, BURGUNDER, J.-M, TARTAGLIONE, A, HEINZLEF, O, FEKI, I, DEUFEL, T, PARFREY, N, BRICE, A, FONTAINE, B, PRUD'HOMME, J.-F, WEISSENBACH, J, BYRNE, P, DÜRR, A, HAZAN, J, DAVOINE, C.-S, CRUAUD, C, BOENTSCH, D, SAMSON, D, COUTINHO, P, HUTCHINSON, M, MCMONAGLE, P

“…Autosomal dominant hereditary spastic paraplegia (AD-HSP) is a group of genetically heterogeneous neurodegenerative disorders characterized by pro- gressive…”
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