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    • Bitoun, Marc; Bevilacqua, Jorge; Prudhon, Bernard; Maugenre, Svetlana; Taratuto, Ana Lia; Monges, Soledad; Lubieniecki, Fabiana; Cances, Claude; Uro-Coste, Emmanuelle; Mayer, Michèle; Fardeau, Michel; Romero, Norma Beatriz; Guicheney, Pascale (Wiley-Liss, 2007-12)
      We report four heterozygous dynamin 2 (DNM2) mutations in five centronuclear myopathy patients aged 1 to 15 years. They all presented with neonatal hypotonia with weak suckling. Thereafter, their phenotype progressively ...
    • Villanueva, Andrea A.; Sánchez Gómez, Pilar; Muñoz Palma, Ernesto Fabián; Puvogel Vittini, Sofía; Casas, Bárbara S.; Arriagada, Cecilia; Peña Villalobos, Isaac Jonathan; Lois, Pablo; Ramírez Orellana, Manuel; Lubieniecki, Fabiana; Casco Claro, Fernando; Gallegos, Iván; García Castro, Javier; Torres, Vicente A.; Palma Alvarado, Verónica Alejandra (Taylor & Francis, 2021)
      Neuroblastoma is a highly metastatic tumor that emerges from neural crest cell progenitors. Focal Adhesion Kinase (FAK) is a regulator of cell migration that binds to the receptor Neogenin-1 and is upregulated in ...