Auteur zoekresultaten :: APM

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The gain of function <i>SCN1A</i> disorder spectrum: novel epilepsy phenotypes and therapeutic implications door Andreas Brunklaus, Tobias Brünger, Tony Feng, Carmen Fons, Anni Lehikoinen, Eleni Panagiotakaki, Mihaela Adela Vințan, Joseph D. Symonds, James E. Andrew, Alexis Arzimanoglou, Sarah Delima, Julie Gallois, Donncha Hanrahan, Gaëtan Lesca, Stewart Macleod, Dragan Marjanović, Amy McTague, Noemi Nuñez-Enamorado, Eduardo Pérez‐Palma, Μ. Scott Perry, Karen Pysden, Sophie Russ-Hall, Ingrid E. Scheffer, Krystal Sully, Steffen Syrbe, Ulvi Vaher, Murugan Velayutham, Julie Vogt, Shelly K. Weiss, Elaine Wirrell, Sameer M. Zuberi, Dennis Lal, Rikke S. Møller, Massimo Mantegazza, Sandrine Cestèle

Gepubliceerd in 2022

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

Gepubliceerd in 2013

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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<... door 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

Gepubliceerd in 2015

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Frequency, symptoms, risk factors, and outcomes of autoimmune encephalitis after herpes simplex encephalitis: a prospective observational study and retrospective analysis door Thaís Armangué, Marianna Spatola, Alexandru Vlagea, Simone Mattozzi, Marc Cárceles-Cordon, Eloy Martínez‐Heras, Sara Llufriú, Jordi Muchart, María Elena Erro, Laura Abraira, Germán Morís, Luis Monros-Giménez, Íñigo Corral, Carmen Montejo, Manuel Toledo, Luís Bataller, Gabriela Secondi, Helena Ariño, Eugenia Martínez‐Hernández, Manel Juan, María Ángeles Marcos, Laia Alsina, Albert Saiz, Myrna R. Rosenfeld, Francesc Graus, Josep Dalmau, Sergio Aguilera, Alfonso Amado Puentes, Antonio Arjona Padillo, Luisa Arrabal, Izascun Arratibel, Gemma Aznar-Laín, Paula Bellas-Lamas, Teresa de Jesús Bermejo, Sabas Boyero-Durán, Ana Camacho, Andrea Campo, Dulce Campos, Verónica Cantarín Extremera, Cristóbal Carnero Pardo, David Conejo-Moreno, Marta Dapena, David Dacruz-Álvarez, Verónica Delgadillo-Chilavert, Àngela Deyà‐Martínez, Jordi Estela-Herrero, A. de Felipe, Elisa Fernández-Cooke, Joaquín Alejandro Fernández‐Ramos, Clàudia Fortuny, Juan Carlos García‐Moncó, Teresa Gili, Verónica González-Álvarez, Robert Güerri, Sara Guillén, Antonio Hedrera-Fernández, María López, Eduardo López‐Laso, María Lorenzo-Ruiz, Marcos Madruga, Ignacio Málaga, Itxaso Martí, Xavier Martínez-Lacasa, Lucía Martín-Viota, Leticia Martín Gil, María-Jesús Martínez-González, Antía Moreira, María Concepción Miranda-Herrero, L. Monge Galindo, Beatriz Muñoz‐Cabello, Juan Navarro‐Morón, Olaf Neth, Antoni Noguera‐Julián, Noemí Núñez‐Enamorado, Virginia Pomar, Juan C Portillo-Cuenca, M.S. Perez Poyato, Luís Prieto, Luís Querol, Eloy Rodríguez‐Rodríguez, Silvana Sarria‐Estrada, Concepción Sierra, Pere Soler‐Palacín, Víctor Soto-Insuga, Laura Toledo-Bravo, Miguel Tomás Vila, Carmen Torres-Torres, Eulàlia Turón-Viñas, Ana Zabalza

Gepubliceerd in 2018

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