Publicacions destacades

• Integrated Multi-Omics Analysis for Inferring Molecular Players in Inclusion Body Myositis

  Canto-Santos, Judith; Valls-Roca, Laura; Tobias, Ester; Oliva, Clara; Garcia-Garcia, Francesc Josep;

  (...)

  Moreno-Lozano, Pedro J; Milisenda, Jose Cesar; Artuch, Rafael; Grau-Junyent, Josep M; Garrabou, Gloria.

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  Referència:

  Antioxidants 2023.

• Functional Evidence of <i>CCDC186</i> as a New Disease-Associated Gene with Endocrine and Central Nervous System Alterations

  Arrabal, L; Martínez, IM; Roldán, S; Muñoz-Pujol, G; Gort, L;

  García-Villoria, J; Tort, F; Ribes, A.

  Referència:

  International Journal Of Molecular Sciences 2023.

• Unravelling inclusion body myositis using a patient-derived fibroblast model

  Cantó-Santos, J; Valls-Roca, L; Tobías, E; García-García, FJ; Guitart-Mampel, M;

  (...)

  Solsona-Vilarrasa, E; Fernandez-Checa, JC; García-Ruiz, C; Rentero, C; Enrich, C.

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  Referència:

  Journal Of Cachexia Sarcopenia And Muscle 2023.

• Transcriptional derepression of CHD4/NuRD-regulated genes in the muscle of patients with dermatomyositis and anti-Mi2 autoantibodies

  Pinal-Fernandez I; Milisenda JC; Pak K; Muñoz-Braceras S; Casal-Dominguez M;

  (...)

  Christopher-Stine L; Lloyd TE; Grau-Junyent JM; Selva-O'Callaghan A; Mammen AL.

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  Referència:

  Annals Of The Rheumatic Diseases 2023.

• Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases

  Bullich, G; Matalonga, L; Papakonstantinou, A; Piscia, D; Artuch, R;

  (...)

  Tizzano, E; Macaya, A; Palau, F; Ribes, A; Perez-Jurado, LA.

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  Referència:

  Journal Of Molecular Diagnostics 2022.

• Multicentric Standardization of Protocols for the Diagnosis of Human Mitochondrial Respiratory Chain Defects

  Bujan, N; Moliner, S; Gort, L; Morén, C; García-García, FJ;

  (...)

  Fernández-Moreno, MA; López-Gallardo, E; Ruiz-Pesini, E; Lozano, E; Garcia-Arumí, E.

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  Referència:

  Antioxidants 2022.

• Progressive endothelial cell damage in correlation with sepsis severity

  Fernández, S; Téllez, A; Seguí, F; Ventosa, H; Nicolás, JM;

  (...)

  Molina, P; Díaz-Ricart, M; Escolar, G; Torramade-Moix, S; Rovira, M.

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  Referència:

  Journal Of Thrombosis And Haemostasis 2021.

• The protective effect of fibroblast growth factor-21 in alcoholic cardiomyopathy: a role in protecting cardiac mitochondrial function

  Ferrer-Curriu, Gemma; Guitart-Mampel, Mariona; Ruperez, Celia; Zamora, Monica; Crispi, Fatima;

  Villarroya, Francesc; Fernandez-Sola, Joaquim; Garrabou, Gloria; Planavila, Anna.

  Referència:

  Journal Of Pathology 2021.

• Physiopathological Bases of the Disease Caused by HACE1 Mutations: Alterations in Autophagy, Mitophagy and Oxidative Stress Response

  Ugarteburu, O; Sánchez-Vilés, M; García-Villoria, J; Ribes, A; Tort, F;

  Ramos, J; Barcos-Rodríguez, T; Garrabou, G.

  Referència:

  Journal Of Clinical Medicine 2020.

• Mutations in TIMM50 cause severe mitochondrial dysfunction by targeting key aspects of mitochondrial physiology.

  Tort, Frederic; Ugarteburu, Olatz; Texido, Laura; Gea-Sorli, Sabrina; Garcia-Villoria, Judit;

  (...)

  Cardellach, Francesc; Wanders, Ronald J A; Fillat, Cristina; Teresa Garcia-Silva, Maria; Ribes, Antonia.

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  Referència:

  Human Mutation 2019.