Charles Marques Lourenço

Universidade de São Paulo USP - São Paulo / Brazil

Natural Sciences / Molecular Biology & Genetics

AD Scientific Index ID: 826386

University of São Paulo USP

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Charles Marques Lourenço's MOST POPULAR ARTICLES

1-) Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signatureGI Rice, PR Kasher, GMA Forte, NM Mannion, SM Greenwood, ...Nature genetics 44 (11), 1243-1248, 20127142012

2-) Mutations involved in Aicardi-Goutieres syndrome implicate SAMHD1 as regulator of the innate immune responseGI Rice, J Bond, A Asipu, RL Brunette, IW Manfield, IM Carr, JC Fuller, ...Nature genetics 41 (7), 829-832, 20097072009

3-) Treatment of Fabry’s disease with the pharmacologic chaperone migalastatDP Germain, DA Hughes, K Nicholls, DG Bichet, R Giugliani, WR Wilcox, ...New England Journal of Medicine 375 (6), 545-555, 20165722016

4-) Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signalingGI Rice, Y del Toro Duany, EM Jenkinson, GMA Forte, BH Anderson, ...Nature genetics 46 (5), 503-509, 20146252014

5-) Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1YJ Crow, DS Chase, J Lowenstein Schmidt, M Szynkiewicz, GMA Forte, ...American journal of medical genetics Part A 167 (2), 296-312, 20156222015

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