Browsing by Author Pavanello, Rita C. M.

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Issue DateTitleAuthor(s)
1-May-2007Central core disease due to recessive mutations in RYR1 gene: Is it more common than described?Kossugue, Patricia M.; Paim, Julia F.; Navarro, Monica M.; Silva, Helga C.; Pavanello, Rita C. M.; Gurgel-Giannetti, Juliana; Zatz, Mayana; Vainzof, Mariz; Universidade de São Paulo (USP); Sarah Network Rehabil Hosp; Universidade Federal de São Paulo (UNIFESP); Universidade Federal de Minas Gerais (UFMG)
1-Mar-2010GENETIC VARIABILITY in the MYOSTATIN GENE DOES NOT EXPLAIN the MUSCLE HYPERTROPHY and CLINICAL PENETRANCE in MYOTONIA CONGENITAMuniz, Viviane Palhares; Senkevics, Adriano S.; Zilbersztajn, Dinorah; Gurgel-Giannetti, Juliana; Silva, Helga Cristina Almeida da [UNIFESP]; Yamamoto, Lydia Uraco; Pavanello, Rita C. M.; Pearson, Peter L.; Zatz, Mayana; Vainzof, Mariz; Universidade de São Paulo (USP); Universidade Federal de Minas Gerais (UFMG); Universidade Federal de São Paulo (UNIFESP)
1-Feb-2012Thomsen or Becker myotonia? A novel autosomal recessive nonsense mutation in the CLCN1 gene associated with a mild phenotypeGurgel-Giannetti, Juliana; Senkevics, Adriano S.; Zilbersztajn-Gotlieb, Dinorah; Yamamoto, Lydia Uraco; Muniz, Viviane Palhares; Pavanello, Rita C. M.; Oliveira, Acary Souza Bulle [UNIFESP]; Zatz, Mayana; Vainzof, Mariz; Universidade de São Paulo (USP); Universidade Federal de Minas Gerais (UFMG); Universidade Federal de São Paulo (UNIFESP)
14-Apr-2009Transcriptional regulation differs in affected facioscapulohumeral muscular dystrophy patients compared to asymptomatic related carriersArashiro, Patricia; Eisenberg, Iris; Kho, Alvin T.; Cerqueira, Antonia M. P.; Canovas, Marta; Silva, Helga Cristina Almeida da [UNIFESP]; Pavanello, Rita C. M.; Verjovski-Almeida, Sergio; Kunkel, Louis M.; Zatz, Mayana; Universidade de São Paulo (USP); Howard Hughes Med Inst; Harvard Univ; Universidade Federal de São Paulo (UNIFESP)