Navegação por Autor "Zanoteli, Edmar"

Resultados 1-5 de 5

    • Brazilian consensus on Duchenne muscular dystrophy, Part 1 : diagnosis, steroid therapy and perspectives 

      Araújo, Alexandra Prufer de Queiroz Campos; Carvalho, Alzira Alves de Siqueira; Cavalcanti, Eduardo Boiteux Uchôa; Saute, Jonas Alex Morales; Carvalho, Elmano Henrique Torres de; França Júnior, Marcondes Cavalcante; Martinez, Alberto Rolim Muro; Navarro, Mônica de Magalhães Machado; Nucci, Anamarli; Resende, Maria Bernadete Dutra de; Gonçalves, Marcus Vinicius Magno; Giannetti, Juliana Gurgel; Scola, Rosana Herminia; Sobreira, Cláudia Ferreira da Rosa; Reed, Umbertina Conti; Zanoteli, Edmar (2017) [Artigo de periódico]
      Significant advances in the understanding and management of Duchenne muscular dystrophy (DMD) took place since international guidelines were published in 2010. Our objective was to provide an evidence-based national consensus ...

    • Challenges and recommendations to increasing the use of exome sequencing and whole genome sequencing for diagnosing rare diseases in Brazil : an expert perspective 

      Felix, Temis Maria; Souza, Carolina Fischinger Moura de; Oliveira, João Bosco; Restrepo, Mariana Rico; Zanoteli, Edmar; Zatz, Mayana; Giugliani, Roberto (2023) [Artigo de periódico]
      Early diagnosis of genetic rare diseases is an unmet need in Brazil, where an estimated 10-13 million people live with these conditions. Increased use of chromosome microarray assays, exome sequencing, and whole genome ...

    • Clinical and molecular findings in a cohort of ANO5-related myopathy 

      Silva, André Macedo Serafim da; Winckler, Pablo Brea; Saute, Jonas Alex Morales; Zanoteli, Edmar (2019) [Artigo de periódico]
      Objective: ANO5-related myopathy is an important cause of limb-girdle muscular dystrophy (LGMD) and hyperCKemia. The main descriptions have emerged from European cohorts, and the burden of the disease worldwide is unclear. ...

    • Clinical and molecular findings of a brazilian cohort of limb-girdle muscular dystrophy patients 

      Winckler, Pablo Brea; Chwal, Bruna Cristine; Carvalho, Elmano Henrique Torres de; Cavalcanti, Eduardo Boiteux Uchôa; Sobreira, Cláudia Ferreira da Rosa; Marrone, Carlo Domênico; França Júnior, Marcondes Cavalcante; Zanoteli, Edmar; Chaves, Marcia Lorena Fagundes; Saute, Jonas Alex Morales (2019) [Resumo publicado em evento]

    • Intragenic variants in the SMN1 gene determine the clinical phenotype in 5q spinal muscular atrophy 

      Saute, Jonas Alex Morales; Becker, Michele Michelin; Pereira, Maria Luiza Saraiva; Facchin, Ana Carolina Brusius; Mendonça, Rodrigo de Holanda; Zanoteli, Edmar (2020) [Artigo de periódico]
      Objective: The aim of the study was to report the proportion of homozygous and compound heterozygous variants in the survival motor neuron 1 (SMN1) gene in a large population of patients with spinal muscular atrophy (SMA) ...