Title |
Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study
|
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Published in |
Lancet Neurology, October 2013
|
DOI | 10.1016/s1474-4422(13)70258-8 |
Pubmed ID | |
Authors |
Gillian I Rice, Gabriella M A Forte, Marcin Szynkiewicz, Diana S Chase, Alec Aeby, Mohamed S Abdel-Hamid, Sam Ackroyd, Rebecca Allcock, Kathryn M Bailey, Umberto Balottin, Christine Barnerias, Genevieve Bernard, Christine Bodemer, Maria P Botella, Cristina Cereda, Kate E Chandler, Lyvia Dabydeen, Russell C Dale, Corinne De Laet, Christian G E L De Goede, Mireia del Toro, Laila Effat, Noemi Nunez Enamorado, Elisa Fazzi, Blanca Gener, Madli Haldre, Jean-Pierre S-M Lin, John H Livingston, Charles Marques Lourenco, Wilson Marques, Patrick Oades, Pärt Peterson, Magnhild Rasmussen, Agathe Roubertie, Johanna Loewenstein Schmidt, Stavit A Shalev, Rogelio Simon, Ronen Spiegel, Kathryn J Swoboda, Samia A Temtamy, Grace Vassallo, Catheline N Vilain, Julie Vogt, Vanessa Wermenbol, William P Whitehouse, Doriette Soler, Ivana Olivieri, Simona Orcesi, Mona S Aglan, Maha S Zaki, Ghada M H Abdel-Salam, Adeline Vanderver, Kai Kisand, Flore Rozenberg, Pierre Lebon, Yanick J Crow |
Abstract |
Aicardi-Goutières syndrome (AGS) is an inflammatory disorder caused by mutations in any of six genes (TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR). The disease is severe and effective treatments are urgently needed. We investigated the status of interferon-related biomarkers in patients with AGS with a view to future use in diagnosis and clinical trials. |
X Demographics
Geographical breakdown
Country | Count | As % |
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Spain | 2 | 40% |
United Kingdom | 2 | 40% |
Unknown | 1 | 20% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 2 | 40% |
Practitioners (doctors, other healthcare professionals) | 2 | 40% |
Science communicators (journalists, bloggers, editors) | 1 | 20% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Japan | 1 | <1% |
Spain | 1 | <1% |
France | 1 | <1% |
Unknown | 256 | 99% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 52 | 20% |
Student > Ph. D. Student | 38 | 15% |
Student > Bachelor | 29 | 11% |
Other | 20 | 8% |
Student > Master | 19 | 7% |
Other | 41 | 16% |
Unknown | 60 | 23% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 52 | 20% |
Biochemistry, Genetics and Molecular Biology | 40 | 15% |
Agricultural and Biological Sciences | 35 | 14% |
Immunology and Microbiology | 24 | 9% |
Neuroscience | 12 | 5% |
Other | 24 | 9% |
Unknown | 72 | 28% |