A Novel de novo Exon 21 DNMT1 Mutation Causes Cerebellar Ataxia, Deafness, and Narcolepsy in a Brazilian Patient

Por Pedroso, José Luiz, Povoas Barsottini, Orlando Graziani, Lin, Ling, Melberg, Atle, Oliveira, Acary S. B., Mignot, Emmanuel
Publicado em 2013

Downregulation of VAPB expression in motor neurons derived from induced pluripotent stem cells of ALS8 patients

Por Mitne-Neto, Miguel, Machado-Costa, Marcela, Marchetto, Maria C.N., Bengtson, Mario H., Joazeiro, Claudio A., Tsuda, Hiroshi, Bellen, Hugo J., Silva, Helga C.A., Oliveira, Acary S.B., Lazar, Monize, Muotri, Alysson R., Zatz, Mayana
Publicado em 2011

Behavior of Blood Pressure Variables in Children and Adolescents with Duchenne Muscular Dystrophy

Por Marui, Fabiane R. R. H., Bianco, Henrique Tria, Bombig, Maria Teresa N., Palmeira, Natascha G. F., Thalenberg, José M., Povoa, Fernando Focaccia, Izar, Maria Cristina de O., Fonseca, Francisco Antonio H., de Oliveira, Acary S. B., Povoa, Rui M. S.
Publicado no Arq Bras Cardiol (2018)

Mutation Spectrum in the Large GTPase Dynamin 2, and Genotype–Phenotype Correlation in Autosomal Dominant Centronuclear Myopathy

Por Böhm, Johann, Biancalana, Valérie, DeChene, Elizabeth T., Bitoun, Marc, Pierson, Christopher R., Schaefer, Elise, Karasoy, Hatice, Dempsey, Melissa A., Klein, Fabrice, Dondaine, Nicolas, Kretz, Christine, Haumesser, Nicolas, Poirson, Claire, Toussaint, Anne, Greenleaf, Rebecca S., Barger, Melissa A., Mahoney, Lane J., Kang, Peter B., Zanoteli, Edmar, Vissing, John, Witting, Nanna, Echaniz-Laguna, Andoni, Wallgren-Pettersson, Carina, Dowling, James, Merlini, Luciano, Oldfors, Anders, Ousager, Lilian Bomme, Melki, Judith, Krause, Amanda, Jern, Christina, Oliveira, Acary S. B., Petit, Florence, Jacquette, Aurélia, Chaussenot, Annabelle, Mowat, David, Leheup, Bruno, Cristofano, Michele, Aldea, Juan José Poza, Michel, Fabrice, Furby, Alain, Llona, Jose E. Barcena, Van Coster, Rudy, Bertini, Enrico, Urtizberea, Jon Andoni, Drouin-Garraud, Valérie, Béroud, Christophe, Prudhon, Bernard, Bedford, Melanie, Mathews, Katherine, Erby, Lori A. H., Smith, Stephen A., Roggenbuck, Jennifer, Crowe, Carol A., Spitale, Allison Brennan, Johal, Sheila C., Amato, Anthony A., Demmer, Laurie A., Jonas, Jessica, Darras, Basil T., Bird, Thomas D., Laurino, Mercy, Welt, Selman I., Trotter, Cynthia, Guicheney, Pascale, Das, Soma, Mandel, Jean-Louis, Beggs, Alan H., Laporte, Jocelyn
Publicado em 2012