Search Results - Emmanuel Scalais

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  1. 1
    Coenzyme Q deficiency causes impairment of the sulfide oxidation pathway

    Coenzyme Q deficiency causes impairment of the sulfide oxidation pathway by Marcello Ziosi, Ivano Di Meo, Giulio Kleiner, Xing‐Huang Gao, Emanuele Barca, Maria J. Sanchez‐Quintero, Saba Tadesse, Hongfeng Jiang, Changhong Qiao, Richard J. Rodenburg, Emmanuel Scalais, Markus Schuelke, Belinda Willard, Maria Hatzoglou, Valeria Tiranti, Catarina M. Quinzii

    Published 2016
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  2. 2
    Invasive fungal infection and impaired neutrophil killing in human CARD9 deficiency

    Invasive fungal infection and impaired neutrophil killing in human CARD9 deficiency by Agata Drewniak, Roel P. Gazendam, Anton T. J. Tool, Michel van Houdt, Machiel H. Jansen, John L. van Hamme, Ester M. M. van Leeuwen, Dirk Roos, Emmanuel Scalais, Carine de Beaufort, Hans Janßen, Timo K. van den Berg, Taco W. Kuijpers

    Published 2013
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  3. 3
    Loss of function of NCOR1 and NCOR2 impairs memory through a novel GABAergic hypothalamus–CA3 projection

    Loss of function of NCOR1 and NCOR2 impairs memory through a novel GABAergic hypothalamus–CA3 projection by Wenjun Zhou, Yanlin He, Atteeq U. Rehman, Yan Kong, Sungguan Hong, Guolian Ding, Hari Krishna Yalamanchili, Ying‐Wooi Wan, Paul Basil, Chuhan Wang, Yingyun Gong, Wenxian Zhou, Hao Liu, John Dean, Emmanuel Scalais, Mary O’Driscoll, Jenny E.V. Morton, Xinguo Hou, Qi Wu, Qingchun Tong, Zhandong Liu, Pengfei Liu, Yong Xu, Zheng Sun

    Published 2019
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  4. 4
    Mutations in the GlyT2 Gene (SLC6A5) Are a Second Major Cause of Startle Disease

    Mutations in the GlyT2 Gene (SLC6A5) Are a Second Major Cause of Startle Disease by Eloisa Carta, Seo‐Kyung Chung, Victoria M. James, Angela K. Robinson, Jennifer Gill, Nathalie Rémy, Jean-François Vanbellinghen, Cheney Drew, S. Cagdas, Duncan Cameron, Frances M. Cowan, Mireria Del Toro, Gail E. Graham, Adnan Y. Manzur, Amira Masri, Serge Rivera, Emmanuel Scalais, Rita Shiang, Kate Sinclair, Catriona A. Stuart, Marina A.J. Tijssen, Grahame Wise, Sameer M. Zuberi, Kirsten Harvey, Brian R. Pearce, Maya Topf, Rhys H. Thomas, Stéphane Supplisson, Mark I. Rees, Victoria L. Harvey

    Published 2012
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  5. 5
    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 by 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

    Published 2019
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  6. 6
    Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2

    Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2 by Víctor Faúndes, Stephanie Goh, Rhoda Akilapa, Heidre Bezuidenhout, Hans T. Björnsson, Lisa Bradley, Angela F. Brady, Elise Brischoux‐Boucher, Han G. Brunner, Saskia Bulk, Natalie Canham, Declan Cody, Maria Lisa Dentici, M. Cristina Digilio, Frances Elmslie, Andrew E. Fry, Harinder Gill, Jane A. Hurst, Diana Johnson, Sophie Julia, Katherine Lachlan, Robert Roger Lebel, Melissa Byler, Eric Gershon, Edmond G. Lemire, Maria Gnazzo, Francesca Romana Lepri, Antonia Marchèse, Meriel McEntagart, Julie McGaughran, Seiji Mizuno, Nobuhiko Okamoto, Claudine Rieubland, Jonathan Rodgers, Erina Sasaki, Emmanuel Scalais, Ingrid Scurr, Mohnish Suri, Ineke van der Burgt, Naomichi Matsumoto, Noriko Miyake, Valérie Benoît, Damien Lederer, Siddharth Banka

    Published 2021
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  7. 7
    An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study

    An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study by Marjan E. Steenweg, Cornelis Jakobs, Abdellatif Errami, Silvy J.M. van Dooren, Maria T. Adeva Bartolomé, Peter Aerssens, Persephone Augoustides-Savvapoulou, Ivo Barić, Matthias Baumann, Luisa Bonafé, B. Chabrol, Joe T.R. Clarke, Peter T. Clayton, Mahmut Çöker, Sarah Cooper, Tzipora C. Falik‐Zaccai, Mark Gorman, Andreas Hahn, Alev Hasanoğlu, Mary D. King, Hans B.C. de Klerk, Stanley H. Korman, Céline Lee, Allan M. Lund, Vlatka Mejaški‐Bošnjak, I Pascual-Castroviejo, Aparna Raadhyaksha, Terje Rootwelt, Agathe Roubertie, María Luz Ruiz-Falcó, Emmanuel Scalais, Ulf Schimmel, Manuel Seijo‐Martínez, Mohnish Suri, Jolanta Sykut‐Cegielska, Friedrich K. Trefz, Graziella Uziel, Vassili Valayannopoulos, Christine Vianey‐Saban, S Vlaho, Julia Vodopiutz, Moacır Wajner, John H. Walter, Claudia Walter-Derbort, Zühal Yapıcı, Dimitrios Zafeiriou, Marieke D. Spreeuwenberg, Jacopo Celli, Johan T. den Dunnen, Marjo S. van der Knaap, Gajja S. Salomons

    Published 2010
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  8. 8
    Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders

    Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders by Markus Wolff, Katrine M. Johannesen, Ulrike B. S. Hedrich, Silvia Masnada, Guido Rubboli, Elena Gardella, Gaëtan Lesca, Dorothée Ville, Mathieu Milh, Laurent Villard, Alexandra Afenjar, Sandra Chantot‐Bastaraud, Cyril Mignot, Caroline Lardennois, Caroline Nava, Niklas Schwarz, Marion Gérard, Laurence Perrin, Diane Doummar, Stéphane Auvin, María J. Miranda, Maja Hempel, Eva H. Brilstra, Nine Knoers, Nienke E. Verbeek, Marjan van Kempen, Kees P. J. Braun, Grazia M.S. Mancini, Saskia Biskup, Konstanze Hörtnagel, Miriam Döcker, Thomas Bast, Tobias Loddenkemper, Lily C. Wong‐Kisiel, Friedrich Baumeister, Walid Fazeli, Pasquale Striano, Robertino Dilena, Elena Fontana, Federico Zara, Gerhard Kurlemann, Joerg Klepper, Jess G. Thoene, Daniel H. Arndt, Nicolas Deconinck, Thomas Schmitt‐Mechelke, Oliver Maier, Hiltrud Muhle, Beverly Wical, C. Finetti, Reinhard Brückner, Joachim Pietz, G. Golla, Dinesh Jillella, Karen Markussen Linnet, Perrine Charles, Ute Moog, Eve Õiglane‐Shlik, John F. Mantovani, Kristen Park, Marie Deprez, Damien Lederer, Sandrine Mary, Emmanuel Scalais, Laila Selim, Rudy Van Coster, Lieven Lagae, Marina Nikanorova, Helle Hjalgrim, Georg-Christoph Korenke, Marina Trivisano, Nicola Specchio, Berten Ceulemans, Thomas Dorn, Katherine L. Helbig, Katia Hardies, Hannah Stamberger, Peter De Jonghe, Sarah Weckhuysen, Johannes R. Lemke, Ingeborg Krägeloh‐Mann, Ingo Helbig, Gerhard Kluger, Holger Lerche, Rikke S. Møller

    Published 2017
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