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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

by Rice, Gillian I, PhD, Forte, Gabriella M A, MPhil, Szynkiewicz, Marcin, MSc, Chase, Diana S, PhD, Aeby, Alec, MD, Abdel-Hamid, Mohamed S, MSc, Ackroyd, Sam, MB ChB, Allcock, Rebecca, FRCPath, Bailey, Kathryn M, MRCPCH, Balottin, Umberto, MD, Barnerias, Christine, MD, Bernard, Genevieve, MD, Bodemer, Christine, PhD, Botella, Maria P, MD, Cereda, Cristina, PhD, Chandler, Kate E, MD, Dabydeen, Lyvia, MRCPCH, Dale, Russell C, PhD, De Laet, Corinne, MD, De Goede, Christian G E L, FRCPCH, del Toro, Mireia, MD, Effat, Laila, PhD, Enamorado, Noemi Nunez, MD, Fazzi, Elisa, MD, Gener, Blanca, MD, Haldre, Madli, BSc, Lin, Jean-Pierre S-M, PhD, Livingston, John H, MB ChB, Lourenco, Charles Marques, MD, Marques, Wilson, MD, Oades, Patrick, FRCPCH, Peterson, Pärt, PhD, Rasmussen, Magnhild, MD, Roubertie, Agathe, MD, Schmidt, Johanna Loewenstein, CGC, Shalev, Stavit A, MD, Simon, Rogelio, MD, Spiegel, Ronen, MD, Swoboda, Kathryn J, FACMG, Temtamy, Samia A, PhD, Vassallo, Grace, MD, Vilain, Catheline N, MD, Vogt, Julie, MRCP, Wermenbol, Vanessa, MD, Whitehouse, William P, FRCPCH, Soler, Doriette, MD, Olivieri, Ivana, MD, Orcesi, Simona, MD, Aglan, Mona S, PhD, Zaki, Maha S, PhD, Abdel-Salam, Ghada M H, PhD, Vanderver, Adeline, MD, Kisand, Kai, PhD, Rozenberg, Flore, MD, Lebon, Pierre, MD, Crow, Yanick J, Prof
Published in Lancet neurology (01.12.2013)

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Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome

by Rice, Gillian, Patrick, Teresa, Parmar, Rekha, Taylor, Claire F., Aeby, Alec, Aicardi, Jean, Artuch, Rafael, Montalto, Simon Attard, Bacino, Carlos A., Barroso, Bruno, Benko, Willam S., Bergmann, Carsten, Bertini, Enrico, Blair, Edward M., Bonthron, David T., Briggs, Tracy, Brueton, Louise A., 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, Husson, Marie, Jackson, Andrew P., Jayatunga, Rasieka, Jiang, Yong-Hui, Kant, Sarina G., Kao, Amy, King, Mary D., Kingston, Helen M., Klepper, Joerg, Kotzot, Dieter, Kratzer, Wilfried, Lacombe, Didier, Lagae, Lieven, Leitch, Andrea, Livingston, John H., Lourenco, Charles M., Lyall, E. G. Hermione, Lynch, Sally A., Lyons, Michael J., Marom, Daphna, McWilliam, Robert, Melancon, Serge B., Moutard, Marie-Laure, Nischal, Ken K., Østergaard, John R., Prendiville, Julie, Rasmussen, Magnhild, Rogers, R. Curtis, Roland, Dominique, Rostasy, Kevin, Roubertie, Agathe, Schiffmann, Raphael, Scholl-Bürgi, Sabine, Seal, Sunita, Shalev, Stavit A., Corcoles, C. Sierra, Sinha, Gyan P., 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, Voit, Thomas, Wassmer, Evangeline, Weschke, Bernhard, Whiteford, Margo L., Willemsen, Michel A.A., Zankl, Andreas, Orcesi, Simona, Fazzi, Elisa, Lebon, Pierre, Crow, Yanick J.
Published in American journal of human genetics (01.10.2007)

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