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| Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1 YJ Crow, DS Chase, J Lowenstein Schmidt, M Szynkiewicz, GMA Forte, ... American journal of medical genetics Part A 167 (2), 296-312, 2015 | 559 | 2015 |
| Assessment of interferon-related biomarkers in Aicardi-Goutieres syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study GI Rice, GMA Forte, M Szynkiewicz, DS Chase, A Aeby, MS Abdel-Hamid, ... The lancet neurology 12 (12), 1159-1169, 2013 | 421 | 2013 |
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| Neurodevelopmental outcome of preterm very low birth weight infants born from 2005 to 2007 S Orcesi, I Olivieri, S Longo, G Perotti, R La Piana, C Tinelli, A Spinillo, ... european journal of paediatric neurology 16 (6), 716-723, 2012 | 44 | 2012 |
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| Bilateral striatal necrosis in two subjects with Aicardi–Goutières syndrome due to mutations in ADAR1 (AGS6) R La Piana, C Uggetti, I Olivieri, D Tonduti, U Balottin, E Fazzi, S Orcesi American Journal of Medical Genetics Part A 164 (3), 815-819, 2014 | 38 | 2014 |
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| Typing TREX1 gene in patients with systemic lupus erythematosus M Fredi, M Bianchi, L Andreoli, G Greco, I Olivieri, S Orcesi, E Fazzi, ... Reumatismo 67 (1), 1-7, 2015 | 34 | 2015 |
| Synonymous Mutations in RNASEH2A Create Cryptic Splice Sites Impairing RNase H2 Enzyme Function in Aicardi–Goutières Syndrome GI Rice, MAM Reijns, SR Coffin, GMA Forte, BH Anderson, M Szynkiewicz, ... Human mutation 34 (8), 1066-1070, 2013 | 28 | 2013 |
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| A new self-report quality of life questionnaire for children with neuromuscular disorders: presentation of the instrument, rationale for its development, and some preliminary … BU Orcesi S1, Ariaudo G, Mercuri E, Beghi E, Rezzani C, ... J Child Neurology 29 (2), 167-81, 2014 | 27 | 2014 |
| Dysregulation of the immune system in Aicardi-Goutières syndrome: another example in a TREX1-mutated patient I Olivieri, M Cattalini, D Tonduti, RL Piana, C Uggetti, J Galli, A Meini, ... Lupus 22 (10), 1064-1069, 2013 | 27 | 2013 |
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Paolo MeriggiFondazione Don Carlo Gnocchi OnlusE-mail megerősítve itt: dongnocchi.it
