Mitochondrial Cardioencephalomyopathy Due to a Novel SCO2 Mutation in a Brazilian Patient

Por Gurgel-Giannetti, Juliana, Oliveira, Guilherme, Filho, Geraldo Brasileiro, Martins, Poliana, Vainzof, Mariz, Hirano, Michio
Publicado no JAMA Neurol (2013)

Novel de novo mutations in KIF1A as a cause of hereditary spastic paraplegia with progressive central nervous system involvement

Por Hotchkiss, Leslie, Donkervoort, Sandra, Leach, Meganne, Mohassel, Payam, Bharucha-Goebel, Diana X., Bradley, Nathaniel, Nguyen, David, Hu, Ying, Gurgel-Giannetti, Juliana, Bönnemann, Carsten G.
Publicado no J Child Neurol (2016)

High Incidence of Biotinidase Deficiency from a Pilot Newborn Screening Study in Minas Gerais, Brazil

Por Lara, Marilis T., Gurgel-Giannetti, Juliana, Aguiar, Marcos J. B., Ladeira, Roberto V. P., Carvalho, Nara O., del Castillo, Dora M., Viana, Marcos B., Januario, José N.
Publicado no JIMD Rep (2015)

Dual Molecular Diagnosis Contributes to Atypical Prader-Willi Phenotype in Monozygotic Twins

Por Jehee, Fernanda S., de Oliveira, Valdirene T., Gurgel-Giannetti, Juliana, Pietra, Rafaella X., Rubatino, Fernando V.M., Carobin, Natália V., Vianna, Gabrielle S., de Freitas, Mariana L., Fernandes, Karla S., Ribeiro, Beatriz S.V., Brüggenwirth, Hennie T., Ali-Amin, Roza, White, Janson J., Akdemir, Zeynep C., Jhangiani, Shalini N., Gibbs, Richard A, Lupski, James R., Varela, Monica C., Koiffmann, Célia, Rosenberg, Carla, Carvalho, Cláudia M. B.
Publicado no Am J Med Genet A (2017)

Consensus Statement on Standard of Care for Congenital Myopathies

Por Wang, Ching H., Dowling, James J., North, Kathryn, Schroth, Mary K., Sejersen, Thomas, Shapiro, Frederic, Bellini, Jonathan, Weiss, Hali, Guillet, Marc, Amburgey, Kimberly, Apkon, Susan, Bertini, Enrico, Bonnemann, Carsten, Clarke, Nigel, Connolly, Anne M., Estournet-Mathiaud, Brigitte, Fitzgerald, Dominic, Florence, Julaine M., Gee, Richard, Gurgel-Giannetti, Juliana, Glanzman, Allan M., Hofmeister, Brittany, Jungbluth, Heinz, Koumbourlis, Anastassios C., Laing, Nigel G., Main, Marion, Morrison, Leslie A., Munns, Craig, Rose, Kristy, Schuler, Pamela M., Sewry, Caroline, Storhaug, Kari, Vainzof, Mariz, Yuan, Nanci
Publicado no J Child Neurol (2012)