Silent polymorphisms in the RYR1 gene do not modify the phenotype of the p.4898 I>T pathogenic mutation in central core disease: a case report

por Cuperman, Thais, Fernandes, Stephanie A, Lourenço, Naila CV, Yamamoto, Lydia U, Silva, Helga CA, Pavanello, Rita CM, Yamamoto, Guilherme L, Zatz, Mayana, Oliveira, Acary SB, Vainzof, Mariz
Publicado 2014

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 2011