Browsing by Author "Artuch, Rafael"

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  • Luque, Juan; Mendes, Ingrid; Gómez, Beatriz; Morte, Beatriz; López de Heredia, Miguel de; Herreras, Enrique; Corrochano, Virginia; Bueren, Juan; Gallano, Pía; Artuch, Rafael; Fillat i Fonts, Cristina; Pérez Jurado, Luis Alberto; Montoliu, Lluis; Carracedo, Ángel; Millán, José M.; Webb, Susan M.; Palau, Francesc; CIBERER Network; Lapunzina, Pablo Daniel (Wiley, 2022)
    CIBER (Center for Biomedical Network Research; Centro de Investigación Biomédica En Red) is a public national consortium created in 2006 under the umbrella of the Spanish National Institute of Health Carlos III (ISCIII). ...
  • Cantó-Santos, Judith; Valls-Roca, Laura; Tobías, Ester; Oliva, Clara; García-García, Francesc Josep; Guitart-Mampel, Mariona; Andújar-Sánchez, Félix; Esteve-Codina, Anna; Martín-Mur, Beatriz; Padrosa, Joan; Aránega, Raquel; Moreno-Lozano, Pedro J.; Milisenda, José César; Artuch, Rafael; Grau-Junyent, Josep M.; Garrabou, Glòria (MDPI, 2023)
    Inclusion body myositis (IBM) is an acquired inflammatory myopathy affecting proximal and distal muscles that leads to weakness in patients over 50. It is diagnosed based on clinical and histological findings in muscle ...
  • Izquierdo Serra, Mercè; Martínez Monseny, Antonio Federico; López, Laura; Carrillo García, Julia, 1993-; Edo, Albert; Ortigoza Escobar, Juan Darío; García, Óscar; Cancho Candela, Ramón; Carrasco Marina, Ma Llanos; Gutiérrez-Solana, Luis González; Cuadras, Daniel; Muchart, Jordi; Montero, Raquel; Artuch, Rafael; Pérez Cerdá, Celia; Pérez, Belén; Pérez Dueñas, Belén; Macaya, Alfons; Fernández-Fernández, José Manuel, 1967-; Serrano, Mercedes L. (MDPI, 2018)
    Stroke-like episodes (SLE) occur in phosphomannomutase deficiency (PMM2-CDG), and may complicate the course of channelopathies related to Familial Hemiplegic Migraine (FHM) caused by mutations in CACNA1A (encoding CaV2.1 ...
  • Murillo-Cuesta, Silvia; Artuch, Rafael; Asensio, Fernando; Villa, Pedro de la; Dierssen, Mara; Enríquez, Jose Antonio; Fillat i Fonts, Cristina; Fourcade, Stéphane; Ibáñez, Borja; Montoliu, Lluis; Oliver, Eduardo; Pujol, Aurora, 1968-; Salido, Eduardo; Vallejo, Mario; Varela Nieto, Isabel (Frontiers, 2020)
    Animal models are invaluable for biomedical research, especially in the context of rare diseases, which have a very low prevalence and are often complex. Concretely mouse models provide key information on rare disease ...
  • Cantó-Santos, Judith; Valls-Roca, Laura; Tobías, Ester; García-García, Francesc Josep; Guitart-Mampel, Mariona; Esteve-Codina, Anna; Martín-Mur, Beatriz; Casado, Mercedes; Artuch, Rafael; Solsona-Vilarrasa, Estel; Fernandez-Checa, José Carlos; García-Ruiz, Carmen; Rentero, Carles; Enrich, Carlos; Moreno-Lozano, Pedro J.; Milisenda, José César; Cardellach, Francesc; Grau-Junyent, Josep M.; Garrabou, Glòria (Wiley, 2023)
    Inclusion body myositis (IBM) is an inflammatory myopathy clinically characterized by proximal and distal muscle weakness, with inflammatory infiltrates, rimmed vacuoles and mitochondrial changes in muscle histopathology. ...

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