José Pedro Vieira
University of Wisconsin–Madison(US)Weatherford College(US)Universidade do Oeste Paulista(BR)Administração Regional de Saúde de Lisboa e Vale do Tejo(PT)ORCID(US)Fundação Faculdade de Medicina(BR)Ministério da Saúde(ST)Universidade Federal de Catalão
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Epilepsy research and treatment, Mitochondrial Function and Pathology, Muscle Physiology and Disorders, Metabolism and Genetic Disorders
Most-Cited Works
- → Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling(2014)586 cited
- → Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus(2012)286 cited
- → Identification of novel genetic causes of Rett syndrome-like phenotypes(2016)189 cited
- → LAMA2gene mutation update: Toward a more comprehensive picture of the laminin-α2 variome and its related phenotypes(2018)114 cited
- → Movement disorders in Rett syndrome: An analysis of 60 patients with detected MECP2 mutation and correlation with mutation type(2008)91 cited
- → Stereotypies in Rett syndrome(2007)83 cited