Resultats de la cerca - Cécilia Altuzarra

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  1. 1
    Corticosteroids as treatment of epileptic syndromes with continuous spike‐waves during slow‐wave sleep

    Corticosteroids as treatment of epileptic syndromes with continuous spike‐waves during slow‐wave sleep per Marga Buzatu, Christine Bulteau, Cécilia Altuzarra, Olivier Dulac, Patrick Van Bogaert

    Publicat 2009
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  2. 2
    Mutation in PNPT1 , which Encodes a Polyribonucleotide Nucleotidyltransferase, Impairs RNA Import into Mitochondria and Causes Respiratory-Chain Deficiency

    Mutation in PNPT1 , which Encodes a Polyribonucleotide Nucleotidyltransferase, Impairs RNA Import into Mitochondria and Causes Respiratory-Chain Deficiency per Vanessa Vedrenne, Gowher Ali, Pascale de Lonlay, Patrick Nitschké, Valérie Serre, Nathalie Boddaert, Cécilia Altuzarra, Anne-Marie Mager-Heckel, Florence Chretien, Nina Entelis, Arnold Münnich, Ivan Tarassov, Agnès Rötig

    Publicat 2012
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  3. 3
    LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood

    LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood per Caroline Michot, Laurence Hubert, Michèle Brivet, Linda De Meırleır, Vassili Valayannopoulos, Wolfgang Müller‐Felber, Venkateswaran Ramesh, Hélène Ogier, Isabelle Desguerre, Cécilia Altuzarra, Elizabeth Thompson, Martin Smitka, Angela Huebner, Marie Husson, Rita Horváth, Patrick F. Chinnery, Frédéric M. Vaz, Arnold Münnich, Orly Elpeleg, Agnès Delahodde, Yves de Keyzer, Pascale de Lonlay

    Publicat 2010
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  4. 4
    A recurrent KCNQ2 pore mutation causing early onset epileptic encephalopathy has a moderate effect on M current but alters subcellular localization of Kv7 channels

    A recurrent KCNQ2 pore mutation causing early onset epileptic encephalopathy has a moderate effect on M current but alters subcellular localization of Kv7 channels per Affef Abidi, Jérôme Devaux, Florence Molinari, Gisèle Alcaraz, François-Xavier Michon, Julie Sutera-Sardo, Hélène Becq, Caroline Lacoste, Cécilia Altuzarra, Alexandra Afenjar, Cyril Mignot, Diane Doummar, Bertrand Isidor, Sylvie N. Guyen, Estelle Colin, Sabine de la Vaissière, Damien Haye, Adeline Trauffler, Catherine Badens, Fabienne Prieur, Gaëtan Lesca, Laurent Villard, Mathieu Milh, Laurent Aniksztejn

    Publicat 2015
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  5. 5
    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 per 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

    Publicat 2021
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  6. 6
    Epileptic patients with de novo <i><scp>STXBP</scp>1</i> mutations: Key clinical features based on 24 cases

    Epileptic patients with de novo <i><scp>STXBP</scp>1</i> mutations: Key clinical features based on 24 cases per Chloé Di Meglio, Gaëtan Lesca, Nathalie Villeneuve, Caroline Lacoste, Affef Abidi, Pierre Cacciagli, Cécilia Altuzarra, Agathe Roubertie, Alexandra Afenjar, Florence Renaldo‐Robin, Bertrand Isidor, Agnès Gautier, Marie Husson, Claude Cancès, Julia Métreau, Cécile Laroche, Mondher Chouchane, Dorothée Ville, Stéphanie Marignier, Christelle Rougeot, Marine Lebrun, Anne de Saint Martin, Alexandra Perez, Audrey Riquet, Catherine Badens, Chantal Missirian, Nicole Philip, B. Chabrol, Laurent Villard, Mathieu Milh

    Publicat 2015
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  7. 7
    Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2

    Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2 per Mathieu Milh, Nadia Boutry‐Kryza, Julie Sutera-Sardo, Cyril Mignot, Stéphane Auvin, Caroline Lacoste, Nathalie Villeneuve, Agathe Roubertie, Bénédicte Héron, Maryline Carneiro, Anna Kaminśka, Cécilia Altuzarra, Gaëlle Blanchard, Dorothée Ville, Marie Anne Barthez, Delphine Héron, Domitille Gras, Alexandra Afenjar, Nathalie Dorison, D. Doummar, Thierry Billette de Villemeur, Isabelle An, Aurélia Jacquette, Perrine Charles, Julie Perrier, Bertrand Isidor, Laurent Vercueil, B. Chabrol, Catherine Badens, Gaëtan Lesca, Laurent Villard

    Publicat 2013
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  8. 8
    Effects of nusinersen after one year of treatment in 123 children with SMA type 1 or 2: a French real-life observational study

    Effects of nusinersen after one year of treatment in 123 children with SMA type 1 or 2: a French real-life observational study per Frédérique Audic, M. Gómez García de la Banda, Delphine Bernoux, Paola Ramirez-Garcia, J. Durigneux, Christine Barnérias, Arnaud Isapof, Jean‐Marie Cuisset, Claude Cancès, Christian Richelme, Carole Vuillerot, Vincent Laugel, Juliette Ropars, Cécilia Altuzarra, Caroline Espil‐Taris, Ulrike Walther‐Louvier, Pascal Sabouraud, Mondher Chouchane, Catherine Vanhulle, Valérie Trommsdorff, Anne Pervillé, Hervé Testard, Emmanuelle Lagrue, Catherine Sarret, Anne-Laude Avice, P. Bèze-Beyrie, Vanessa Pauly, Susana Quijano‐Roy, B. Chabrol, Isabelle Desguerre

    Publicat 2020
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  9. 9
    <i>KCNT1</i>-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum

    <i>KCNT1</i>-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum per Claudia Bonardi, Henrike Heyne, Martina Fiannacca, Mark P. Fitzgerald, Elena Gardella, Boudewijn Gunning, Kern Olofsson, Gaëtan Lesca, Nienke E. Verbeek, Hannah Stamberger, Pasquale Striano, Federico Zara, Maria Margherita Mancardi, Caroline Nava, Steffen Syrbe, Salvatore Buono, Stéphanie Baulac, Antonietta Coppola, Sarah Weckhuysen, An‐Sofie Schoonjans, Berten Ceulemans, Catherine Sarret, Tobias Baumgartner, Hiltrud Muhle, Vincent des Portes, Joseph Toulouse, Marie‐Christine Nouguès, Massimiliano Rossi, Geneviève Demarquay, Dorothée Ville, Édouard Hirsch, Hélène Maurey, Marjolaine Willems, Julitta de Bellescize, Cécilia Altuzarra, Nathalie Villeneuve, Fabrice Bartoloméi, Fabienne Picard, Frauke Hornemann, David A. Koolen, Hester Y. Kroes, Chiara Reale, Christina Fenger, Wen‐Hann Tan, Leanne M. Dibbens, David Bearden, Rikke S. Møller, Guido Rubboli

    Publicat 2021
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  10. 10
    Genotype-phenotype correlations in <i>SCN8A</i>-related disorders reveal prognostic and therapeutic implications

    Genotype-phenotype correlations in <i>SCN8A</i>-related disorders reveal prognostic and therapeutic implications per Katrine M. Johannesen, Yuanyuan Liu, Mahmoud Koko, Cathrine E. Gjerulfsen, Lukas Sonnenberg, Julian Schubert, Christina Fenger, Ahmed Eltokhi, Maert Rannap, Nils A. Koch, Stephan Lauxmann, Johanna Krüger, Josua Kegele, Laura Canafoglia, Silvana Franceschetti, Patrick May, Johannes Rebstock, Pia Zacher, Susanne Ruf, Michael Alber, Katalin Štěrbová, Petra Laššuthová, Markéta Vlčková, Johannes R. Lemke, Konrad Platzer, Ilona Krey, Constanze Heine, Dagmar Wieczorek, Judith Kroell-Seger, Caroline Lund, Karl Martin Klein, P Y Billie Au, Jong M. Rho, Alice Ho, Silvia Masnada, Pierangelo Veggiotti, Lucio Giordano, Patrizia Accorsi, Christina Engel Hoei‐Hansen, Pasquale Striano, Federico Zara, Hélène Verhelst, J. Verhoeven, Hilde M. H. Braakman, Bert van der Zwaag, Aster V. E. Harder, Eva H. Brilstra, Manuela Pendziwiat, Sebastian Lebon, María Vaccarezza, Ngọc Minh Lê, Jakob Christensen, Sabine Grønborg, Stephen W. Scherer, Jennifer Howe, Walid Fazeli, Katherine B. Howell, Richard J. Leventer, Chloe Stutterd, Sonja Walsh, Marion Gérard, Bénédicte Gérard, Sara Matricardi, Claudia Bonardi, Stefano Sartori, Andrea Berger, Dorota Hoffman‐Zacharska, Massimo Mastrangelo, Francesca Darra, Arve Vøllo, M. Mahdi Motazacker, Phillis Lakeman, Mathilde Nizon, Cornelia Betzler, Cécilia Altuzarra, Roseline Caume, Agathe Roubertie, Philippe Gélisse, Carla Marini, Renzo Guerrini, Frédéric Bilan, Daniel Tibussek, Margarete Koch‐Hogrebe, Μ. Scott Perry, Shoji Ichikawa, Е. Л. Дадали, Artem Sharkov, Irina Mishina, M. O. Abramov, Ilya Kanivets, С. А. Коростелев, Sergey I. Kutsev, Karen E. Wain, Nancy Eisenhauer, Monisa Wagner, Juliann M. Savatt, Karen Müller‐Schlüter, Haim Bassan, Artem Borovikov, Marie‐Cécile Nassogne

    Publicat 2021
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