Lourenc¸o, Charles Marques

Top Publications

Top Publications Authored or Co-Authored by "Lourenc¸o, Charles Marques"

• Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type i interferon signaling

  Nature Genetics, Volume 46, No. 5, Year 2014, Citations 494
• Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1

  American Journal of Medical Genetics, Part A, Volume 167, No. 2, Year 2015, Citations 449
• Treatment of Fabry's disease with the pharmacologic chaperone migalastat

  New England Journal of Medicine, Volume 375, No. 6, Year 2016, Citations 363
• Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humans

  PLoS Biology, Volume 10, No. 3, Article e1001288, Year 2012, Citations 158
• Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia

  American Journal of Human Genetics, Volume 93, No. 1, Year 2013, Citations 144