Charles Marques Lourenço
Faculdade de Medicina de São José do Rio Preto(BR)Universidade de São Paulo(BR)
Publications by Year
Research Areas
Lysosomal Storage Disorders Research, Metabolism and Genetic Disorders, Genetic Neurodegenerative Diseases, Trypanosoma species research and implications, Hereditary Neurological Disorders
Most-Cited Works
- → Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature(2012)928 cited
- → Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response(2009)682 cited
- → Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1(2015)601 cited
- → Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling(2014)586 cited
- → Treatment of Fabry’s Disease with the Pharmacologic Chaperone Migalastat(2016)544 cited
- → Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome(2007)445 cited