檢索結果 - Alec Aeby

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  1. 1
    Oral ketamine in paediatric non-convulsive status epilepticus

    Oral ketamine in paediatric non-convulsive status epilepticus 由 Leena Mewasingh, Tayeb Sékhara, Alec Aeby, Florence Christiaens, Bernard Dan

    出版 2003
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  2. 2
    Levetiracetam Efficacy in Epileptic Syndromes with Continuous Spikes and Waves during Slow Sleep: Experience in 12 Cases

    Levetiracetam Efficacy in Epileptic Syndromes with Continuous Spikes and Waves during Slow Sleep: Experience in 12 Cases 由 Alec Aeby, Nathalie Poznanski, Denis Verheulpen, Catherine Wetzburger, Patrick Van Bogaert

    出版 2005
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  3. 3
    Mutation of a potassium channel–related gene in progressive myoclonic epilepsy

    Mutation of a potassium channel–related gene in progressive myoclonic epilepsy 由 Patrick Van Bogaert, Régis Azizieh, Julie Désir, Alec Aeby, Linda De Meırleır, Jean‐François Laes, Florence Christiaens, Marc Abramowicz

    出版 2007
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  4. 4
    Maturation of Thalamic Radiations between 34 and 41 Weeks' Gestation: A Combined Voxel-Based Study and Probabilistic Tractography with Diffusion Tensor Imaging

    Maturation of Thalamic Radiations between 34 and 41 Weeks' Gestation: A Combined Voxel-Based Study and Probabilistic Tractography with Diffusion Tensor Imaging 由 Alec Aeby, Y. Liu, Xavier De Tiège, Vincent Denolin, P. David, Danielle Balériaux, Martin Kavec, Thierry Metens, Patrick Van Bogaert

    出版 2009
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  5. 5
    <i>SCN1B</i>‐linked early infantile developmental and epileptic encephalopathy

    <i>SCN1B</i>‐linked early infantile developmental and epileptic encephalopathy 由 Alec Aeby, Claudine Sculier, Alexandra A. Bouza, Brandon Askar, Damien Lederer, Anne‐Sofie Schoonjans, Marc Vander Ghinst, Berten Ceulemans, James Offord, Luis F. Lopez‐Santiago, Lori L. Isom

    出版 2019
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  6. 6
    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 由 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

    出版 2021
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  7. 7
    Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis

    Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis 由 Michèl A.A.P. Willemsen, Marcel M. Verbeek, Erik‐Jan Kamsteeg, J.F. de Rijk-van Andel, Alec Aeby, Nenad Blau, Alessandro P. Burlina, Maria Alice Donati, B. Geurtz, Padraic J. Grattan‐Smith, Maximilian Haeussler, G. F. Hoffmann, Hae Hyuk Jung, J. B. de Klerk, Marjo S. van der Knaap, Fernando Kok, Vincenzo Leuzzi, Pascale de Lonlay, André Mégarbané, H. Monaghan, W.O. Renier, Pierre Rondot, Monique M. Ryan, Jürgen Seeger, Jan Smeitink, Gerry C. H. Steenbergen‐Spanjers, Evangeline Wassmer, Bernhard Weschke, Frits A. Wijburg, Bridget Wilcken, Dimitrios Zafeiriou, Ron A. Wevers

    出版 2010
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  8. 8
    Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response

    Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response 由 Gillian Rice, Jacquelyn Bond, Aruna Asipu, Rebecca Brunette, Iain W. Manfield, Ian Carr, Jonathan C. Fuller, Richard M. Jackson, Teresa M. Lamb, Tracy A. Briggs, Manir Ali, Hannah Gornall, Lydia R Couthard, Alec Aeby, Simon Attard-Montalto, Enrico Bertini, Christine Bodemer, Knut Brockmann, Louise Brueton, Peter Corry, Isabelle Desguerre, Elisa Fazzi, Àngels García Cazorla, Blanca Gener, Ben C.J. Hamel, Arvid Heiberg, Matthew F. Hunter, Marjo S. van der Knaap, Ram Kumar, Lieven Lagae, P. Landrieu, Charles Marques Lourenço, Daphna Marom, Michael McDermott, William van der Merwe, Simona Orcesi, Julie Prendiville, Magnhild Rasmussen, Stavit A. Shalev, Doriette Soler, Marwan Shinawi, Ronen Spiegel, Tiong Yang Tan, Adeline Vanderver, Emma Wakeling, Evangeline Wassmer, Elizabeth Whittaker, Pierre Lebon, Daniel B. Stetson, David T. Bonthron, Yanick J. Crow

    出版 2009
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  9. 9
    Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study

    Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study 由 Gillian Rice, Gabriella Forte, Marcin Szynkiewicz, Diana Chase, Alec Aeby, Mohamed S. Abdel‐Hamid, Sam Ackroyd, Rebecca Allcock, Kathryn Bailey, Umberto Balottin, Christine Barnérias, Geneviève Bernard, Christine Bodemer, M.P. Botella, Cristina Cereda, Kate Chandler, Lyvia Dabydeen, Russell C. Dale, Corinne De Laet, Christian G E L De Goede, Mireia del Toro, Laila K. Effat, Noemí Núñez Enamorado, Elisa Fazzi, Blanca Gener, Madli Haldre, Jean‐Pierre Lin, John H. Livingston, Charles Marques Lourenço, Wilson Marques, P.J. Oades, Pärt Peterson, Magnhild Rasmussen, Agathe Roubertie, Johanna Schmidt, Stavit A. Shalev, Rogelio Simón, Ronen Spiegel, Kathryn J. Swoboda, Samia A. Temtamy, Grace Vassallo, Catheline Vilain, Julie Vogt, Vanessa Wermenbol, William Whitehouse, Doriette Soler, Ivana Olivieri, Simona Orcesi, Mona Aglan, Maha S. Zaki, Ghada M. H. Abdel‐Salam, Adeline Vanderver, Kai Kisand, Flore Rozenberg, Pierre Lebon, Yanick J. Crow

    出版 2013
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  10. 10
    Characterization of human disease phenotypes associated with mutations in <i>TREX1</i>, <i>RNASEH2A</i>, <i>RNASEH2B</i>, <i>RNASEH2C</i>, <i>SAMHD1</i>, <i>ADAR</i>, and <i>IFIH1</i>

    Characterization of human disease phenotypes associated with mutations in <i>TREX1</i>, <i>RNASEH2A</i>, <i>RNASEH2B</i>, <i>RNASEH2C</i>, <i>SAMHD1</i>, <i>ADAR</i>, and <i>IFIH1<... 由 Yanick J. Crow, Diana Chase, Johanna L. Schmidt, Marcin Szynkiewicz, Gabriella Forte, Hannah Gornall, Anthony Oojageer, Beverley Anderson, Amy Pizzino, Guy Helman, Mohamed S. Abdel‐Hamid, Ghada M. H. Abdel‐Salam, Sam Ackroyd, Alec Aeby, Guillermo Agosta, Catherine S. W. Albin, Stavit A. Shalev, Montse Arellano, Giada Ariaudo, Vijay Aswani, Riyana Babul‐Hirji, Eileen Baildam, Nadia Bahi‐Buisson, Kathryn Bailey, Christine Barnérias, Magalie Barth, Roberta Battini, Michael W. Beresford, Geneviève Bernard, Marika Bianchi, Thierry Billette de Villemeur, Edward Blair, Miriam Bloom, Alberto Burlina, Maria Luisa Carpanelli, Daniel R. Carvalho, Manuel Castro‐Gago, Anna Cavallini, Cristina Cereda, Kate Chandler, David Chitayat, Abigail E. Collins, Concepción Sierra Córcoles, Nuno Cordeiro, Giovanni Crichiutti, Lyvia Dabydeen, Russell C. Dale, Stefano D’Arrigo, Christian G E L De Goede, Corinne De Laet, Liesbeth M. H. De Waele, Inés María Denzler, Isabelle Desguerre, Koenraad Devriendt, Maja Di Rocco, Michael Fahey, Elisa Fazzi, Colin D. Ferrie, António Figueiredo, Blanca Gener, Cyril Goizet, Nirmala Gowrinathan, Kalpana Gowrishankar, Donncha Hanrahan, Bertrand Isidor, Bülent Kara, Naz Khan, Mary D. King, Edwin P. Kirk, Ram Kumar, Lieven Lagae, P. Landrieu, Heinz Lauffer, Vincent Laugel, Roberta La Piana, Ming Lim, Jean‐Pierre Lin, Tarja Linnankivi, Mark T. Mackay, Daphna Marom, Charles Marques Lourenço, Shane McKee, Isabella Moroni, Jenny E.V. Morton, Marie‐Laure Moutard, Kevin Murray, Rima Nabbout, Sheela Nampoothiri, Noemí Núñez‐Enamorado, P.J. Oades, Ivana Olivieri, John R. Østergaard, Belén Pérez‐Dueñas, Julie Prendiville, Venkateswaran Ramesh, Magnhild Rasmussen, Luc Régal, Federica Ricci, Marlène Rio, Diana Rodriguez

    出版 2015
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  11. 11
    Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome

    Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome 由 Gillian Rice, Teresa Patrick, Rekha Parmar, Claire Taylor, Alec Aeby, Jean Aicardi, Rafael Artuch, Simon Attard Montalto, Carlos A. Bacino, Bruno Barroso, Peter Baxter, Willam S. Benko, Carsten Bergmann, Enrico Bertini, Roberta Biancheri, Edward Blair, Nenad Blau, David T. Bonthron, Tracy A. Briggs, Louise Brueton, Han G. Brunner, Christopher J. Burke, Ian Carr, Daniel R. Carvalho, Kate Chandler, H.‐J. Christen, Peter Corry, Frances M. Cowan, Helen Cox, Stefano D’Arrigo, John Dean, Corinne De Laet, Claudine De Praeter, Catherine Déry, Colin D. Ferrie, Kim Flintoff, Suzanna G.M. Frints, Àngels García‐Cazorla, Blanca Gener, Cyril Goizet, Françoise Goutières, Andrew Green, Agnès Guët, Ben C.J. Hamel, Bruce E. Hayward, Arvid Heiberg, Raoul C. M. Hennekam, Marie Husson, Andrew P. Jackson, Rasieka Jayatunga, Yong‐hui Jiang, Sarina G. Kant, Amy Kao, Mary D. King, Helen Kingston, Joerg Klepper, Marjo S. van der Knaap, Andrew J. Kornberg, Dieter Kotzot, W Kratzer, Didier Lacombe, Lieven Lagae, P. Landrieu, Giovanni Lanzi, Andrea Leitch, Ming Lim, John H. Livingston, Charles Marques Lourenço, E G Hermione Lyall, Sally Ann Lynch, Michael J. Lyons, Daphna Marom, John P. McClure, Robert McWilliam, Serge B. Melançon, Leena Mewasingh, Marie‐Laure Moutard, Ken K. Nischal, John R. Østergaard, Julie Prendiville, Magnhild Rasmussen, R. Curtis Rogers, Dominique Roland, Elisabeth Rosser, Kevin Rostásy, Agathe Roubertie, Amparo Sanchís, Raphael Schiffmann, Sabine Scholl‐Bürgi, Sunita Seal, Stavit A. Shalev, Concepción Sierra Córcoles, Gyan P. Sinha, Doriette Soler, Ronen Spiegel, John B.P. Stephenson, Uta Tacke, Tiong Yang Tan, Marianne Till, John Tolmie

    出版 2007
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