• Artículo
      Icon

      Altered myogenesis and premature senescence underlie human TRIM32-related myopathy 

      Servián Morilla, Emilia; Cabrera Serrano, Macarena; Carvajal, A.; Lamont, P.J.; Pelayo Negro, A. L.; Ravenscroft, G.; Junckerstorff, R.; Dyke, J.M; Fletcher, S.; Adams, A. M.; Fernández García, M. A.; Nieto González, José Luis; Laing, N. G.; Rivas, Eloy; Mavillard Saborido, Fabiola; Paradas, Carmen (Springer Nature, 2019-03-01)
      TRIM32 is a E3 ubiquitin -ligase containing RING, B-box, coiled-coil and six C-terminal NHL domains. Mutations involving ...
    • Artículo
      Icon

      Identification of vrk1 as a new neuroblastoma tumor progression marker regulating cell proliferation 

      Colmenero Repiso, Ana; Gómez Muñoz, María A.; Rodríguez Prieto, Ismael; Amador Álvarez, Aida; Henrich, Kai Oliver; Pascual Vaca, Diego; Okonechnikov, Konstantin; Rivas, Eloy; Westermann, Frank; Pardal Redondo, Ricardo; Vega Moreno, Francisco Manuel (Multidisciplinary Digital Publishing Institute (MDPI), 2020)
      Neuroblastoma (NB) is one of the most common pediatric cancers and presents a poor survival rate in affected children. ...
    • Artículo
      Icon

      Late-onset thymidine kinase 2 deficiency: a review of 18 cases 

      Domínguez González, Cristina; Hernández Laín, Aurelio; Rivas, Eloy; Hernández Voth, Ana R.; Sayas Catalán, Javier; Fernández Torrón, Roberto; Fuiza Luces, Carmen; García García, Jorge M.; Caballero Eraso, Candelaria; Paradas, Carmen (Springer Nature, 2019-05-06)
      BACKGROUND: TK2 gene encodes for mitochondrial thymidine kinase, which phosphorylates the pyrimidine nucleosides thymidine ...
    • Artículo
      Icon

      Neuromuscular disease classification system 

      Sáez Manzano, Aurora; Acha Piñero, Begoña; Montero, Sánchez, Adoración; Rivas, Eloy; Escudero Cuadrado, Luis María; Serrano Gotarredona, María del Carmen (Spie-soc photo-optical instrumentation engineers, 2013)
      Diagnosis of neuromuscular diseases is based on subjective visual assessment of biopsies from patients by the pathologist ...
    • Artículo
      Icon

      Quantifiable diagnosis of neuromuscular diseases through network analysis 

      Serrano Gotarredona, María del Carmen; Acha Piñero, Begoña; Rivas, Eloy; Escudero Cuadrado, Luis María; Sáez Manzano, Aurora; Montero Sánchez, Adoración; Paradas, Carmen; Pascual Bravo, Alberto (2013)
    • Artículo
      Icon

      Sex Hormone Receptor Expression in Craniopharyngiomas and Association with Tumor Aggressiveness Characteristics 

      Martínez Ortega, Antonio Jesús; Flores Martínez, Álvaro; Venegas-Moreno, Eva; Dios, Elena; Del Can, Diego; Rivas, Eloy; Soto Moreno, Alfonso Manuel; Cano, David A. (MDPI, 2022)
      Craniopharyngiomas (CPs) are rare tumors of the sellar and suprasellar regions of embryonic origin. The primary treatment ...