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2,492 articles

articles

Original Research

Published on 21 Jul 2023

Expanding the phenotype of THRB: a range of macular dystrophies as the major clinical manifestations in patients with a dominant splicing variant

in Molecular and Cellular Pathology

  • Elena Fernández-Suárez
  • MarĂ­a González-del Pozo
  • Alejandro GarcĂ­a-Núñez
  • Cristina MĂ©ndez-Vidal
  • Marta MartĂ­n-Sánchez
  • JosĂ© Manuel MejĂ­as-Carrasco
  • Manuel Ramos-JimĂ©nez
  • MarĂ­a JosĂ© Morillo-Sánchez
  • Enrique RodrĂ­guez-de la RĂşa
  • Salud Borrego
Frontiers in Cell and Developmental Biology
doi 10.3389/fcell.2023.1197744
  • 4,269 views
  • 12 citations

Original Research

Published on 11 Jul 2023

Expression of SRP-9001 dystrophin and stabilization of motor function up to 2 years post-treatment with delandistrogene moxeparvovec gene therapy in individuals with Duchenne muscular dystrophy

in Molecular and Cellular Pathology

  • Jerry R. Mendell
  • Perry B. Shieh
  • Craig M. McDonald
  • Zarife Sahenk
  • Kelly J. Lehman
  • Linda P. Lowes
  • Natalie F. Reash
  • Megan A. Iammarino
  • Lindsay N. Alfano
  • Brenna Sabo
Frontiers in Cell and Developmental Biology
doi 10.3389/fcell.2023.1167762
  • 25,589 views
  • 70 citations