Search Results - Florence Riant

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  1. 1
    Recent insights into cerebral cavernous malformations: the molecular genetics of CCM

    Recent insights into cerebral cavernous malformations: the molecular genetics of CCM by Florence Riant, Françoise Bergametti, Xavier Ayrignac, Gwénola Boulday, Elisabeth Tournier‐Lasserve

    Published 2010
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  2. 2
    Pathogenic Mutations Associated with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy Differently Affect Jagged1 Binding and Notch3 Activity via the RBP/JK Signaling Pathway

    Pathogenic Mutations Associated with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy Differently Affect Jagged1 Binding and Notch3 Activi... by Anne Joutel, Marie Monet, Valérie Domenga, Florence Riant, Elisabeth Tournier‐Lasserve

    Published 2004
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  3. 3
    Spectrum and expression analysis of KRIT1 mutations in 121 consecutive and unrelated patients with Cerebral Cavernous Malformations

    Spectrum and expression analysis of KRIT1 mutations in 121 consecutive and unrelated patients with Cerebral Cavernous Malformations by Florence Riant, Christian Denier, Pierre Labauge, Michaelle Cécillon, Jacqueline Maciazek, Anne Joutel, Sophie Laberge, Elisabeth Tournier‐Lasserve

    Published 2002
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  4. 4
    <i>FGF14</i>‐related episodic ataxia: delineating the phenotype of Episodic Ataxia type 9

    <i>FGF14</i>‐related episodic ataxia: delineating the phenotype of Episodic Ataxia type 9 by Julie Piarroux, Florence Riant, Véronique Humbertclaude, Ganaëlle Remérand, Jessica Hadjadj, F Rejou, Christine Coubes, Lucile Pinson, Pierre Meyer, Agathe Roubertie

    Published 2020
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  5. 5
    ATP1A2 mutations in 11 families with familial hemiplegic migraine

    ATP1A2 mutations in 11 families with familial hemiplegic migraine by Florence Riant, Maurizio De Fusco, Paolo Aridon, Anne Ducros, Claire Ploton, Florence Marchelli, Jacqueline Maciazek, Marie Germaine Bousser, Giorgio Casari, Elisabeth Tournier‐Lasserve

    Published 2005
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  6. 6
    Antithrombotic Therapy and Bleeding Risk in a Prospective Cohort Study of Patients With Cerebral Cavernous Malformations

    Antithrombotic Therapy and Bleeding Risk in a Prospective Cohort Study of Patients With Cerebral Cavernous Malformations by Hans‐Martin Schneble, Aïcha Soumaré, Dominique Hervé, Damien Bresson, Jean‐Pierre Guichard, Florence Riant, Elisabeth Tournier‐Lasserve, Christophe Tzourio, Hugues Chabriat, Christian Stapf

    Published 2012
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  7. 7
    Eye movement disorders are an early manifestation of<i>CACNA1A</i>mutations in children

    Eye movement disorders are an early manifestation of<i>CACNA1A</i>mutations in children by Esther Tantsis, Deepak Gill, Lyn R. Griffiths, Sachin Gupta, John A. Lawson, Neven Maksemous, Robert Ouvrier, Florence Riant, Robert L. Smith, Christopher Troedson, Richard Webster, Manoj P. Menezes

    Published 2016
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  8. 8
    Major intra-familial phenotypic heterogeneity and incomplete penetrance due to a CACNA1A pathogenic variant

    Major intra-familial phenotypic heterogeneity and incomplete penetrance due to a CACNA1A pathogenic variant by Chloé Angelini, Julien Van‐Gils, Antoine Bigourdan, Pierre‐Simon Jouk, Didier Lacombe, Patrice Ménégon, Sébastien Moutton, Florence Riant, Guilhem Solé, Elisabeth Tournier‐Lasserve, Aurélien Trimouille, Marie Vincent, Cyril Goizet

    Published 2018
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  9. 9
    &lt;b&gt;&lt;i&gt;CCM3&lt;/i&gt;&lt;/b&gt; Mutations Are Associated with Early-Onset Cerebral Hemorrhage and Multiple Meningiomas

    &lt;b&gt;&lt;i&gt;CCM3&lt;/i&gt;&lt;/b&gt; Mutations Are Associated with Early-Onset Cerebral Hemorrhage and Multiple Meningiomas by Florence Riant, Françoise Bergametti, H.-D. Fournier, Françoise Chapon, Sophie Michalak-Provost, Michaelle Cécillon, Pascal Lejeune, Hassan Hosseini, Chi‐un Choe, Matthias Orth, Christian Bernreuther, Gwénola Boulday, Christian Denier, Pierre Labauge, Elisabeth Tournier‐Lasserve

    Published 2013
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  10. 10
    Defective membrane expression of the Na <sup>+</sup> -HCO <sub>3</sub> <sup>−</sup> cotransporter NBCe1 is associated with familial migraine

    Defective membrane expression of the Na <sup>+</sup> -HCO <sub>3</sub> <sup>−</sup> cotransporter NBCe1 is associated with familial migraine by Masashi Suzuki, Wim Van Paesschen, Ingeborg Stalmans, Shoko Horita, Hideomi Yamada, Bruno Bergmans, Eric Legius, Florence Riant, Peter De Jonghe, Yuehong Li, Takashi Sekine, Takashi Igarashi, Ichiro Fujimoto, Katsuhiko Mikoshiba, Mitsunobu Shimadzu, Masaaki Shiohara, Nancy Braverman, Lihadh Al‐Gazali, Toshiro Fujita, George Seki

    Published 2010
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  11. 11
    A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies

    A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies by Marie Coutelier, Giulia Coarelli, Marie‐Lorraine Monin, Juliette Konop, Claire-Sophie Davoine, Christelle Tesson, Rémi Valter, Mathieu Anheim, Anthony Béhin, Giovanni Castelnovo, Perrine Charles, Albert David, Claire Ewenczyk, Mélanie Fradin, Cyril Goizet, Didier Hannequin, Pierre Labauge, Florence Riant, Pierre Sarda, Yves Sznajer, François Tison, Urielle Ullmann, Lionel Van Maldergem, Fanny Mochel, Alexis Brice, Giovanni Stévanin, Alexandra Dürr

    Published 2017
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  12. 12
    Mutations in the netrin-1 gene cause congenital mirror movements

    Mutations in the netrin-1 gene cause congenital mirror movements by Aurélie Méneret, Elizabeth A. Franz, Oriane Trouillard, Thomas Oliver, Yvrick Zagar, Stephen P. Robertson, Quentin Welniarz, R. J. M. Gardner, Cécile Gallea, Myriam Srour, Christel Depienne, Christine L. Jasoni, Caroline Dubacq, Florence Riant, Jean‐Charles Lamy, Marie‐Pierre Morel, Raphaël Guérois, Jessica Andréani, Coralie Fouquet, Mohamed Doulazmi, Marie Vidailhet, Guy A. Rouleau, Alexis Brice, Alain Chédotal, Isabelle Dusart, Emmanuel Roze, David Markie

    Published 2017
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  13. 13
    Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies

    Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic ence... by Stéphanie Valence, Emmanuelle Cochet, Christelle Rougeot, Cathérine Garel, Sandra Chantot‐Bastaraud, Élodie Lainey, Alexandra Afenjar, Marie-Anne Barthez, Nathalie Bednarek, Diane Doummar, Laurence Faivre, Cyril Goizet, Damien Haye, Bénédicte Héron, Isabelle Kemlin, Didier Lacombe, Mathieu Milh, Marie‐Laure Moutard, Florence Riant, Stéphanie Robin, Agathe Roubertie, Pierre Sarda, Annick Toutain, Laurent Villard, Dorothée Ville, Thierry Billette de Villemeur, Diana Rodriguez, Lydie Bürglen

    Published 2018
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  14. 14
    CACNA1A-associated epilepsy: Electroclinical findings and treatment response on seizures in 18 patients

    CACNA1A-associated epilepsy: Electroclinical findings and treatment response on seizures in 18 patients by Marie Le Roux, Magalie Barth, Sophie Guéden, Patrick Desbordes de Cepoy, Alec Aeby, Catheline Vilain, Édouard Hirsch, Anne de Saint Martin, Vincent des Portes, Gaëtan Lesca, Audrey Riquet, Laurence Chaton, Nathalie Villeneuve, Laurent Villard, Claude Cancès, Luc Valton, Florence Renaldo, Anne‐Isabelle Vermersch, Cécilia Altuzarra, Marie-Ange Nguyen-Morel, Julien Van‐Gils, Chloé Angelini, Arnaud Biraben, Lionel Arnaud, Florence Riant, Patrick Van Bogaert

    Published 2021
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  15. 15
    Congenital mirror movements

    Congenital mirror movements by Aurélie Méneret, Christel Depienne, Florence Riant, Oriane Trouillard, Delphine Bouteiller, M. Cincotta, Pierre Bitoun, Julia Wickert, Lagroua Isabelle, Ana Westenberger, Alessandra Borgheresi, Diane Doummar, Marcello Romano, Símone Rossi, Luc Defebvre, Linda De Meırleır, Alberto J. Espay, Simona Fiori, Stephan Klebe, Chloé Quēlin, Sabine Rudnik–Schöneborn, Ghislaine Plessis, Russell C. Dale, Susan Sklower Brooks, Karolina Dzieżyc, Pierre Pollak, Jean‐Louis Golmard, Marie Vidailhet, Alexis Brice, Emmanuel Roze

    Published 2014
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  16. 16
    Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions

    Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions by Jean‐Loup Méreaux, Claire-Sophie Davoine, David Pellerin, Giulia Coarelli, Marie Coutelier, Claire Ewenczyk, Marie‐Lorraine Monin, Mathieu Anheim, Isabelle Le Ber, Stéphane Thobois, Florent Gobert, Léna Guillot‐Noël, Sylvie Forlani, Ludmila Jornéa, Anna Heinzmann, Aude Sangaré, Bertrand Gaymard, Lucie Guyant‐Maréchal, Perrine Charles, Cécilia Marelli, Jérôme Honnorat, Bertrand Degos, François Tison, Sophie Sangla, M. Simonetta‐Moreau, François Salachas, Maya Tchikviladzé, Giovanni Castelnovo, Fanny Mochel, Stephan Klebe, Anna Castrioto, Silvia Fenu, Aurélie Méneret, Frédéric Bourdain, Marion Wandzel, Virginie Roth, Céline Bonnet, Florence Riant, Giovanni Stévanin, Sandrine Noël, Anne‐Laure Fauret‐Amsellem, Melanie Bahlo, Paul J. Lockhart, Bernard Brais, Mathilde Renaud, Alexis Brice, Alexandra Dürr

    Published 2023
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  17. 17
    Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance

    Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance by Ashley P.L. Marsh, Delphine Héron, Timothy J. Edwards, Angélique Quartier, Charles A. Galea, Caroline Nava, Agnès Rastetter, Marie-Laure Moutard, Vicki Anderson, Pierre Bitoun, Jens Bunt, Anne Faudet, Cathérine Garel, Greta Gillies, Ilan Gobius, Justine Guégan, Solveig Heide, Boris Keren, Fabien Lesne, Vesna Lukić, Simone Mandelstam, George McGillivray, Alissandra McIlroy, Aurélie Méneret, Cyril Mignot, Laura Morcom, Sylvie Odent, Annalisa Paolino, Kate Pope, Florence Riant, Gail Robinson, Megan Spencer‐Smith, Myriam Srour, Sarah Stephenson, Rick M. Tankard, Oriane Trouillard, Quentin Welniarz, Amanda Wood, Alexis Brice, Guy A. Rouleau, Tania Attié‐Bitach, Martin B. Delatycki, Jean‐Louis Mandel, David J. Amor, Emmanuel Roze, Amélie Piton, Melanie Bahlo, Thierry Billette de Villemeur, Elliott H. Sherr, Richard J. Leventer, Linda J. Richards, Paul J. Lockhart, Christel Depienne

    Published 2017
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  18. 18
    Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias

    Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias by Paulina Cunha, Emilien Petit, Marie Coutelier, Giulia Coarelli, Caterina Mariotti, Jennifer Faber, Judith Van Gaalen, Joana Damásio, Zofia Fleszar, Michele Tosi, Clarissa Rocca, Giovanna De Michele, Martina Minnerop, Claire Ewenczyk, Filippo M. Santorelli, Anna Heinzmann, Thomas D. Bird, Matthias Amprosi, Elisabetta Indelicato, Alberto Benussi, Perrine Charles, Claudia Stendel, Silvia Romano, Marina Scarlato, Isabelle Le Ber, Maria Teresa Bassi, Mercedes Serrano, Tanja Schmitz‐Hübsch, Sarah Doss, Gijs A.J. Van Velzen, Quentin Thomas, Antonio Trabacca, Juan Darío Ortigoza‐Escobar, Stefano D’Arrigo, Dagmar Timmann, Chiara Pantaleoni, Andrea Martinuzzi, Elsa Besse-Pinot, Luca Marsili, Ettore Cioffi, Francesco Nicita, Alejandro Giorgetti, Isabella Moroni, Romina Romaniello, Carlo Casali, Penina Ponger, Giorgio Casari, Susanne T. de Bot, Giovanni Ristori, Lubov Blumkin, Barbara Borroni, Cyril Goizet, Cécilia Marelli, Sylvia Boesch, Mathieu Anheim, Alessandro Filla, Henry Houlden, Enrico Bertini, Thomas Klopstock, Matthis Synofzik, Florence Riant, Ginevra Zanni, Stefania Magri, Daniela Di Bella, Lorenzo Nanetti, Jorge Sequeiros, Jorge Oliveira, Bart van de Warrenburg, Lüdger Schöls, Franco Taroni, Alexis Brice, Alexandra Dürr

    Published 2023
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