Convergence of miRNA Expression Profiling, α-Synuclein Interacton and GWAS in Parkinson's Disease

Por Martins, Madalena, Rosa, Alexandra, Guedes, Leonor C., Fonseca, Benedita V., Gotovac, Kristina, Violante, Sara, Mestre, Tiago, Coelho, Miguel, Rosa, Mário M., Martin, Eden R., Vance, Jeffery M., Outeiro, Tiago F., Wang, Liyong, Borovecki, Fran, Ferreira, Joaquim J., Oliveira, Sofia A.
Publicado em 2011

Liquid Chromatography-Tandem Mass Spectrometry Assay of Leukocyte Acid α-Glucosidase for Post-Newborn Screening Evaluation of Pompe Disease

Por Lin, Na, Huang, Jingyu, Violante, Sara, Orsini, Joseph J., Caggana, Michele, Hughes, Erin E., Stevens, Colleen, DiAntonio, Lisa, Liao, Hsuan Chieh, Hong, Xinying, Ghomashchi, Farideh, Kumar, Arun Babu, Zhou, Hui, Kornreich, Ruth, Wasserstein, Melissa, Gelb, Michael H., Yu, Chunli
Publicado no Clin Chem (2017)

A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism

Por Celestino-Soper, Patrícia B. S., Violante, Sara, Crawford, Emily L., Luo, Rui, Lionel, Anath C., Delaby, Elsa, Cai, Guiqing, Sadikovic, Bekim, Lee, Kwanghyuk, Lo, Charlene, Gao, Kun, Person, Richard E., Moss, Timothy J., German, Jennifer R., Huang, Ni, Shinawi, Marwan, Treadwell-Deering, Diane, Szatmari, Peter, Roberts, Wendy, Fernandez, Bridget, Schroer, Richard J., Stevenson, Roger E., Buxbaum, Joseph D., Betancur, Catalina, Scherer, Stephen W., Sanders, Stephan J., Geschwind, Daniel H., Sutcliffe, James S., Hurles, Matthew E., Wanders, Ronald J. A., Shaw, Chad A., Leal, Suzanne M., Cook, Edwin H., Goin-Kochel, Robin P., Vaz, Frédéric M., Beaudet, Arthur L.
Publicado em 2012