檢索結果 - Aeby, Alec

Treatment of Focal-Onset Seizures in Children: Should This Be More Etiology-Driven? 由 Aeby, Alec, Ceulemans, Berten, Lagae, Lieven

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Carbamazepine efficacy in a severe electro‐clinical presentation of SLC13A5 ‐epilepsy 由 Santalucia, Roberto, Vilain, Catheline, Soblet, Julie, De Laet, Corinne, Vuckovic, Aline, König, Jörg, Aeby, Alec

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Central Sleep Apnea Syndrome Can Complicate Neuromyelitis Optica Spectrum Disorder: A Case Report 由 Morelli, Céline, Aeby, Alec, Scaillet, Sonia, Boitsios, Grammatina, Vens, Daphné, Prigogine, Cynthia, Biarent, Dominique, Vicinanza, Alfredo

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Case Report: Interest of Positron Emission Tomography in Pediatric Small Vessel Primary Angiitis of the Central Nervous System 由 Belcour, Morgane, Dontaine, Pauline, Monier, Anne, Lebrun, Laetitia, Salmon, Isabelle, De Witte, Olivier, Goldman, Serge, De Tiège, Xavier, Aeby, Alec

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Atypical resting-state functional brain connectivity in children with developmental coordination disorder 由 Van Dyck, Dorine, Deconinck, Nicolas, Aeby, Alec, Baijot, Simon, Coquelet, Nicolas, Trotta, Nicola, Rovai, Antonin, Goldman, Serge, Urbain, Charline, Wens, Vincent, De Tiège, Xavier

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

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Phenotypes and genotypes in non‐consanguineous and consanguineous primary microcephaly: High incidence of epilepsy 由 Duerinckx, Sarah, Désir, Julie, Perazzolo, Camille, Badoer, Cindy, Jacquemin, Valérie, Soblet, Julie, Maystadt, Isabelle, Tunca, Yusuf, Blaumeiser, Bettina, Ceulemans, Berten, Courtens, Winnie, Debray, François‐Guillaume, Destree, Anne, Devriendt, Koenraad, Jansen, Anna, Keymolen, Kathelijn, Lederer, Damien, Loeys, Bart, Meuwissen, Marije, Moortgat, Stéphanie, Mortier, Geert, Nassogne, Marie‐Cécile, Sekhara, Tayeb, Van Coster, Rudy, Van Den Ende, Jenny, Van der Aa, Nathalie, Van Esch, Hilde, Vanakker, Olivier, Verhelst, Helene, Vilain, Catheline, Weckhuysen, Sarah, Passemard, Sandrine, Verloes, Alain, Aeby, Alec, Deconinck, Nicolas, Van Bogaert, Patrick, Pirson, Isabelle, Abramowicz, Marc

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

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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 由 Rice, Gillian I, Forte, Gabriella M A, Szynkiewicz, Marcin, Chase, Diana S, Aeby, Alec, Abdel-Hamid, Mohamed S, Ackroyd, Sam, Allcock, Rebecca, Bailey, Kathryn M, Balottin, Umberto, Barnerias, Christine, Bernard, Genevieve, Bodemer, Christine, Botella, Maria P, Cereda, Cristina, Chandler, Kate E, Dabydeen, Lyvia, Dale, Russell C, De Laet, Corinne, De Goede, Christian G E L, del Toro, Mireia, Effat, Laila, Enamorado, Noemi Nunez, Fazzi, Elisa, Gener, Blanca, Haldre, Madli, Lin, Jean-Pierre S-M, Livingston, John H, Lourenco, Charles Marques, Marques, Wilson, Oades, Patrick, Peterson, Pärt, Rasmussen, Magnhild, Roubertie, Agathe, Schmidt, Johanna Loewenstein, Shalev, Stavit A, Simon, Rogelio, Spiegel, Ronen, Swoboda, Kathryn J, Temtamy, Samia A, Vassallo, Grace, Vilain, Catheline N, Vogt, Julie, Wermenbol, Vanessa, Whitehouse, William P, Soler, Doriette, Olivieri, Ivana, Orcesi, Simona, Aglan, Mona S, Zaki, Maha S, Abdel-Salam, Ghada M H, Vanderver, Adeline, Kisand, Kai, Rozenberg, Flore, Lebon, Pierre, Crow, Yanick J

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Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome 由 Rice, Gillian , Patrick, Teresa , Parmar, Rekha , Taylor, Claire F. , Aeby, Alec , Aicardi, Jean , Artuch, Rafael , Montalto, Simon Attard , Bacino, Carlos A. , Barroso, Bruno , Baxter, Peter , Benko, Willam S. , Bergmann, Carsten , Bertini, Enrico , Biancheri, Roberta , Blair, Edward M. , Blau, Nenad , Bonthron, David T. , Briggs, Tracy , Brueton, Louise A. , Brunner, Han G. , Burke, Christopher J. , Carr, Ian M. , Carvalho, Daniel R. , Chandler, Kate E. , Christen, Hans-Jürgen , Corry, Peter C. , Cowan, Frances M. , Cox, Helen , D’Arrigo, Stefano , Dean, John , De Laet, Corinne , De Praeter, Claudine , Déry, Catherine , Ferrie, Colin D. , Flintoff, Kim , Frints, Suzanna G. M. , Garcia-Cazorla, Angels , Gener, Blanca , Goizet, Cyril , Goutières, Françoise , Green, Andrew J. , Guët, Agnès , Hamel, Ben C. J. , Hayward, Bruce E. , Heiberg, Arvid , Hennekam, Raoul C. , Husson, Marie , Jackson, Andrew P. , Jayatunga, Rasieka , Jiang, Yong-Hui , Kant, Sarina G. , Kao, Amy , King, Mary D. , Kingston, Helen M. , Klepper, Joerg , van der Knaap, Marjo S. , Kornberg, Andrew J. , Kotzot, Dieter , Kratzer, Wilfried , Lacombe, Didier , Lagae, Lieven , Landrieu, Pierre Georges , Lanzi, Giovanni , Leitch, Andrea , Lim, Ming J. , Livingston, John H. , Lourenco, Charles M. , Lyall, E. G. Hermione , Lynch, Sally A. , Lyons, Michael J. , Marom, Daphna , McClure, John P. , McWilliam, Robert , Melancon, Serge B. , Mewasingh, Leena D. , Moutard, Marie-Laure , Nischal, Ken K. , Østergaard, John R. , Prendiville, Julie , Rasmussen, Magnhild , Rogers, R. Curtis , Roland, Dominique , Rosser, Elisabeth M. , Rostasy, Kevin , Roubertie, Agathe , Sanchis, Amparo , Schiffmann, Raphael , Scholl-Bürgi, Sabine , Seal, Sunita , Shalev, Stavit A. , Corcoles, C. Sierra , Sinha, Gyan P. , Soler, Doriette , Spiegel, Ronen , Stephenson, John B. P. , Tacke, Uta , Tan, Tiong Yang , Till, Marianne , Tolmie, John L. , Tomlin, Pam , Vagnarelli, Federica , Valente, Enza Maria , Van Coster, Rudy N. A. , Van der Aa, Nathalie , Vanderver, Adeline , Vles, Johannes S. H. , Voit, Thomas , Wassmer, Evangeline , Weschke, Bernhard , Whiteford, Margo L. , Willemsen, Michel A. A. , Zankl, Andreas , Zuberi, Sameer M. , Orcesi, Simona , Fazzi, Elisa , Lebon, Pierre , Crow, Yanick J. 

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Characterization of Human Disease Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1 由 Crow, Yanick J., Chase, Diana S., Schmidt, Johanna Lowenstein, Szynkiewicz, Marcin, Forte, Gabriella M.A., Gornall, Hannah L., Oojageer, Anthony, Anderson, Beverley, Pizzino, Amy, Helman, Guy, Abdel-Hamid, Mohamed S., Abdel-Salam, Ghada M., Ackroyd, Sam, Aeby, Alec, Agosta, Guillermo, Albin, Catherine, Allon-Shalev, Stavit, Arellano, Montse, Ariaudo, Giada, Aswani, Vijay, Babul-Hirji, Riyana, Baildam, Eileen M., Bahi-Buisson, Nadia, Bailey, Kathryn M., Barnerias, Christine, Barth, Magalie, Battini, Roberta, Beresford, Michael W., Bernard, Geneviève, Bianchi, Marika, de Villemeur, Thierry Billette, Blair, Edward M., Bloom, Miriam, Burlina, Alberto B., Carpanelli, Maria Luisa, Carvalho, Daniel R., Castro-Gago, Manuel, Cavallini, Anna, Cereda, Cristina, Chandler, Kate E., Chitayat, David A., Collins, Abigail E., Corcoles, Concepcion Sierra, Cordeiro, Nuno J.V., Crichiutti, Giovanni, Dabydeen, Lyvia, Dale, Russell C., D’Arrigo, Stefano, De Goede, Christian G.E.L., De Laet, Corinne, De Waele, Liesbeth M.H., Denzler, Ines, Desguerre, Isabelle, Devriendt, Koenraad, Di Rocco, Maja, Fahey, Michael C., Fazzi, Elisa, Ferrie, Colin D., Figueiredo, António, Gener, Blanca, Goizet, Cyril, Gowrinathan, Nirmala R., Gowrishankar, Kalpana, Hanrahan, Donncha, Isidor, Bertrand, Kara, Bülent, Khan, Nasaim, King, Mary D., Kirk, Edwin P., Kumar, Ram, Lagae, Lieven, Landrieu, Pierre, Lauffer, Heinz, Laugel, Vincent, La Piana, Roberta, Lim, Ming J., Lin, Jean-Pierre S.-M., Linnankivi, Tarja, Mackay, Mark T., Marom, Daphna R., Lourenço, Charles Marques, McKee, Shane A., Moroni, Isabella, Morton, Jenny E.V., Moutard, Marie-Laure, Murray, Kevin, Nabbout, Rima, Nampoothiri, Sheela, Nunez-Enamorado, Noemi, Oades, Patrick J., Olivieri, Ivana, Ostergaard, John R., Pérez-Dueñas, Belén, Prendiville, Julie S., Ramesh, Venkateswaran, Rasmussen, Magnhild, Régal, Luc, Ricci, Federica, Rio, Marlène, Rodriguez, Diana, Roubertie, Agathe, Salvatici, Elisabetta, Segers, Karin A., Sinha, Gyanranjan P., Soler, Doriette, Spiegel, Ronen, Stödberg, Tommy I., Straussberg, Rachel, Swoboda, Kathryn J., Suri, Mohnish, Tacke, Uta, Tan, Tiong Y., Naude, Johann te Water, Teik, Keng Wee, Thomas, Maya Mary, Till, Marianne, Tonduti, Davide, Valente, Enza Maria, Van Coster, Rudy Noel, van der Knaap, Marjo S., Vassallo, Grace, Vijzelaar, Raymon, Vogt, Julie, Wallace, Geoffrey B., Wassmer, Evangeline, Webb, Hannah J., Whitehouse, William P., Whitney, Robyn N., Zaki, Maha S., Zuberi, Sameer M., Livingston, John H., Rozenberg, Flore, Lebon, Pierre, Vanderver, Adeline, Orcesi, Simona, Rice, Gillian I.

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