Hakutulokset - Diane Doummar

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  1. 1
    Relapsing encephalopathy with cerebellar ataxia are caused by variants involving p.Arg756 in ATP1A3

    Relapsing encephalopathy with cerebellar ataxia are caused by variants involving p.Arg756 in ATP1A3 Tekijä Pascal Sabouraud, Audrey Riquet, Marie‐Aude Spitz, Kumaran Deiva, Soňa Nevšímalová, Cyril Mignot, Gaëtan Lesca, Nathalie Bednarek, Diane Doummar, Christine Piétrement, Vincent Laugel

    Julkaistu 2019
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  2. 2
    MFN2, a new gene responsible for mitochondrial DNA depletion

    MFN2, a new gene responsible for mitochondrial DNA depletion Tekijä Florence Renaldo, Patrizia Amati‐Bonneau, Abdelhamid Slama, C. Romaña, V. Forin, Diane Doummar, Christine Barnérias, Joseph Bursztyn, M. Mayer, N. Khouri, Thierry Billette de Villemeur, Lydie Bürglen, Pascal Reynier, A. Gélot, Diana Rodriguez

    Julkaistu 2012
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  3. 3
    Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders

    Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders Tekijä Caroline Nava, Boris Keren, Cyril Mignot, Agnès Rastetter, Sandra Chantot‐Bastaraud, Anne Faudet, Eric Fonteneau, Claire Amiet, Claudine Laurent, Aurélia Jacquette, Sandra Whalen, Alexandra Afenjar, Didier Périsse, Diane Doummar, Nathalie Dorison, Marion Leboyer, Jean‐Pierre Siffroi, David Cohen, Alexis Brice, Delphine Héron, Christel Depienne

    Julkaistu 2013
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  4. 4
    Novel<i>KCNQ2</i>and<i>KCNQ3</i>Mutations in a Large Cohort of Families with Benign Neonatal Epilepsy: First Evidence for an Altered Channel Regulation by Syntaxin-1A

    Novel<i>KCNQ2</i>and<i>KCNQ3</i>Mutations in a Large Cohort of Families with Benign Neonatal Epilepsy: First Evidence for an Altered Channel Regulation by Syntaxin-1A Tekijä Maria Virginia Soldovieri, Nadia Boutry‐Kryza, Mathieu Milh, Diane Doummar, Bénédicte Héron, Emilie Bourel‐Ponchel, Paolo Ambrosino, Francesco Miceli, Michela De Maria, Nathalie Dorison, Stéphane Auvin, Bernard Échenne, Julie Oertel, Audrey Riquet, Laëtitia Lambert, Marion Gérard, Anne Roubergue, Alain Calender, Cyril Mignot, Maurizio Taglialatela, Gaëtan Lesca

    Julkaistu 2013
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  5. 5
    Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes

    Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes Tekijä Sophie Tézenas du Montcel, F. Clot, M. Vidailhet, Emmanuel Roze, Philippe Damier, C P Jedynak, A. Camuzat, A Lagueny, Laurent Vercueil, Diane Doummar, Lucie Guyant‐Maréchal, J.L. Houéto, G Ponsot, Stéphane Thobois, Marie‐Anne Cournelle, Alexandra Dürr, Franck Durif, Bernard Échenne, Didier Hannequin, Christine Tranchant, Alexis Brice

    Julkaistu 2005
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  6. 6
    Epilepsy with migrating focal seizures

    Epilepsy with migrating focal seizures Tekijä Giulia Barcia, Nicole Chémaly, Mathieu Kuchenbuch, Monika Eisermann, Stéphanie Gobin‐Limballe, Viorica Ciorna, Alfons Macaya, Laëtitia Lambert, Fanny Dubois, Diane Doummar, Thierry Billette de Villemeur, Nathalie Villeneuve, Marie-Anne Barthez, Caroline Nava, Nathalie Boddaert, Anna Kaminśka, Nadia Bahi‐Buisson, Mathieu Milh, Stéphane Auvin, Jean‐Paul Bonnefont, Rima Nabbout

    Julkaistu 2019
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  7. 7
    Increased diagnostic yield in complex dystonia through exome sequencing

    Increased diagnostic yield in complex dystonia through exome sequencing Tekijä Thomas Wirth, Christine Tranchant, Nathalie Drouot, Boris Keren, Cyril Mignot, Laura Cif, Romain Lefaucheur, Laurence Lion‐François, Aurélie Méneret, Domitille Gras, Emmanuel Roze, Cécile Laroche, Pierre Burbaud, Stéphanie Bannier, Ouhaïd Lagha‐Boukbiza, Marie‐Aude Spitz, Vincent Laugel, Matthieu Béreau, Emmanuelle Ollivier, Patrick Nitschké, Diane Doummar, Gabrielle Rudolf, Mathieu Anheim, Jamel Chelly

    Julkaistu 2020
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  8. 8
    Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia

    Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia Tekijä F. Clot, David Grabli, C. Cazeneuve, Emmanuel Roze, Pierre Castelnau, B. Chabrol, P. Landrieu, Karine Nguyen, G Ponsot, Myriem Abada, Diane Doummar, Philippe Damier, R. Gil, Stéphane Thobois, Alana Ward, Michael Hutchinson, Annick Toutain, Fabienne Picard, A. Camuzat, Estelle Fédirko, Chann San, Delphine Bouteiller, Eric LeGuern, Alexandra Dürr, Marie Vidailhet, Alexis Brice

    Julkaistu 2009
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  9. 9
    A decision tree for the genetic diagnosis of deficiency of adenosine deaminase 2 (DADA2): a French reference centres experience

    A decision tree for the genetic diagnosis of deficiency of adenosine deaminase 2 (DADA2): a French reference centres experience Tekijä Mélanie Rama, Claire Duflos, Isabelle Melki, D. Bessis, A. Bonhomme, Hélène Martin, Diane Doummar, Stéphanie Valence, Diana Rodriguez, Emilie Carme, David Geneviève, Ketil Heimdal, Antonella Insalaco, Nathalie Franck, Viviane Queyrel‐Moranne, N. Tieulié, Jonathan London, Florence Uettwiller, Sophie Georgin‐Lavialle, Alexandre Bélot, Isabelle Koné‐Paut, Véronique Hentgen, Guilaine Boursier, Isabelle Touitou, Guillaume Sarrabay

    Julkaistu 2018
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  10. 10
    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 Tekijä 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

    Julkaistu 2015
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  11. 11
    Loss of Oxidation Resistance 1, OXR1, Is Associated with an Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction

    Loss of Oxidation Resistance 1, OXR1, Is Associated with an Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction Tekijä Julia Wang, Justine Rousseau, Emily Kim, Sophie Ehresmann, Yi-Ting Cheng, Lita Duraine, Zhongyuan Zuo, Ye-Jin Park, David Li‐Kroeger, Weimin Bi, Lee-Jun Wong, Jill A. Rosenfeld, Joseph G. Gleeson, Eissa Faqeih, Fowzan S. Alkuraya, Klaas J. Wierenga, Jiani Chen, Alexandra Afenjar, Caroline Nava, Diane Doummar, Boris Keren, Jane Juusola, Markus Grompe, Hugo J. Bellen, Philippe M. Campeau

    Julkaistu 2019
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  12. 12
    Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients

    Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients Tekijä Elouan Chérot, Boris Keren, Christèle Dubourg, Wilfried Carré, Mélanie Fradin, Alinoë Lavillaureix, Alexandra Afenjar, Lydie Bürglen, Sandra Whalen, Perrine Charles, Isabelle Marey, Solveig Heide, Aurélia Jacquette, Delphine Héron, Diane Doummar, Diana Rodriguez, T Billette de Villemeur, M.L. Moutard, Agnès Guët, Jean Xavier, Didier Périsse, David Cohen, Florence Démurger, Chloé Quēlin, Christel Depienne, Sylvie Odent, Caroline Nava, Véronique David, Laurent Pasquier, Cyril Mignot

    Julkaistu 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... Tekijä 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

    Julkaistu 2018
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  14. 14
    Congenital mirror movements

    Congenital mirror movements Tekijä 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

    Julkaistu 2014
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  15. 15
    TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome

    TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome Tekijä Nils J. Lambacher, Ange‐Line Bruel, Teunis J. P. van Dam, Katarzyna Szymańska, Gisela G. Slaats, Stefanie Kuhns, Gavin McManus, Julie Kennedy, Karl Gaff, Ka Man Wu, Robin van der Lee, Lydie Bürglen, Diane Doummar, Jean‐Baptiste Rivière, Laurence Faivre, Tania Attié‐Bitach, Sophie Saunier, Alistair Curd, Michelle Peckham, Rachel H. Giles, Colin A. Johnson, Martijn A. Huynen, Christel Thauvin‐Robinet, Oliver E. Blacque

    Julkaistu 2015
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  16. 16
    Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy

    Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy Tekijä Hugh J. McMillan, Aida Telegrafi, Amanda Singleton, Megan T. Cho, Daniel Lelli, Francis C. Lynn, Julie Griffin, Alexander Asamoah, Tuula Rinne, Corrie E. Erasmus, David A. Koolen, Charlotte A. Haaxma, Boris Keren, Diane Doummar, Cyril Mignot, Islay Thompson, Lea Velsher, Mohammadreza Dehghani, Mohammad Yahya Vahidi Mehrjardi, Reza Maroofian, Michel Tchan, Cas Simons, John Christodoulou, Elena Martín‐Hernández, María J. Guillen Sacoto, Lindsay B. Henderson, Heather M. McLaughlin, Laurie L. Molday, Robert S. Molday, Grace Yoon

    Julkaistu 2018
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  17. 17
    <i>ADCY5</i> -related dyskinesia

    <i>ADCY5</i> -related dyskinesia Tekijä Donghui Chen, Aurélie Méneret, Jennifer Friedman, Olena Korvatska, Alona Gad, Emily Bonkowski, Holly A.F. Stessman, Diane Doummar, Cyril Mignot, Mathieu Anheim, Saunder Bernes, Marie Y. Davis, Nathalie Damon‐Perrière, Bertrand Degos, David Grabli, Domitille Gras, Fuki M. Hisama, Katherine M. Mackenzie, Phillip D. Swanson, Christine Tranchant, Marie Vidailhet, Steven P. Winesett, Oriane Trouillard, Laura M. Amendola, Michael O. Dorschner, Michael D. Weiss, Evan E. Eichler, Ali Torkamani, Emmanuel Roze, Thomas D. Bird, Wendy H. Raskind

    Julkaistu 2015
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  18. 18
    Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood—a study of 155 patients

    Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood—a study of 155 patients Tekijä Eleni Panagiotakaki, Elisa De Grandis, Michela Stagnaro, Erin L. Heinzen, Carmen Fons, Sanjay M. Sisodiya, Boukje de Vries, Christophe Goubau, Sarah Weckhuysen, David Kemlink, Ingrid E. Scheffer, Gaëtan Lesca, Muriel Rabilloud, Amna Klich, Alia Ramírez-Camacho, Adriana Ulate-Campos, Jaume Campistol, Melania Giannotta, Marie‐Laure Moutard, Diane Doummar, Cecile Hubsch-Bonneaud, Fatima Jaffer, J. Helen Cross, Fiorella Gurrieri, Francesco Danilo Tiziano, Soňa Nevšímalová, Sophie Nicole, Brian Neville, Arn M. J. M. van den Maagdenberg, Mohamad A. Mikati, David B. Goldstein, Rosaria Vavassori, Alexis Arzimanoglou

    Julkaistu 2015
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  19. 19
    Reverse-Transcriptase Inhibitors in the Aicardi–Goutières Syndrome

    Reverse-Transcriptase Inhibitors in the Aicardi–Goutières Syndrome Tekijä Gillian Rice, Candice Meyzer, Naïm Bouazza, Marie Hully, Nathalie Boddaert, Michaëla Semeraro, Leo Zeef, Flore Rozenberg, Vincent Bondet, Darragh Duffy, Alba Llibre, Jinmi Baek, Mame N Sambe, Elodie Henry, Valérie Jolaine, Christine Barnérias, Magalie Barth, Alexandre Bélot, Claude Cancès, François‐Guillaume Debray, Diane Doummar, Marie‐Louise Frémond, Naoki Kitabayashi, Alice Lepelley, Virginie Levrat, Isabelle Melki, Pierre Meyer, Marie‐Christine Nouguès, Florence Renaldo, Mathieu P. Rodero, Diana Rodriguez, Agathe Roubertie, Luís Seabra, Carolina Uggenti, Hendy Abdoul, Jean‐Marc Tréluyer, Isabelle Desguerre, Stéphane Blanche, Yanick J. Crow

    Julkaistu 2018
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  20. 20
    Expanding the genetic and phenotypic relevance of <i>KCNB1</i> variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature

    Expanding the genetic and phenotypic relevance of <i>KCNB1</i> variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature Tekijä Claire Bar, Giulia Barcia, Mélanie Jennesson, Gwenaël Le Guyader, Amy L. Schneider, Cyril Mignot, Gaëtan Lesca, Delphine Breuillard, Martino Montomoli, Boris Keren, Diane Doummar, Thierry Billette de Villemeur, Alexandra Afenjar, Isabelle Marey, Marion Gérard, Hervé Isnard, Alice Poisson, S. Dupont, Patrick Berquin, Pierre Meyer, David Geneviève, Anne de Saint Martin, Salima El Chehadeh, Jamel Chelly, Agnès Guët, Emmanuel Scalais, Nathalie Dorison, Candace T. Myers, Heather C. Mefford, Katherine B. Howell, Carla Marini, Jeremy L. Freeman, Anca Nica, Gaetano Terrone, Tayeb Sékhara, Anne-Sophie Lèbre, Sylvie Odent, Lynette G. Sadleir, Arnold Munnich, Renzo Guerrini, Ingrid E. Scheffer, Edor Kabashi, Rima Nabbout

    Julkaistu 2019
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