Featured publications

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

  Cantó-Santos, J; Valls-Roca, L; Tobías, E; Oliva, C; García-García, FJ;

  (...)

  Moreno-Lozano, PJ; Milisenda, JC; Artuch, R; Grau-Junyent, JM; Garrabou, G.

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  Reference:

  Antioxidants 2023.

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

  Arrabal, L; Muñoz-Pujol, G; Martínez, IM; Gort, L; García-Villoria, J;

  Roldán, S; Tort, F; Ribes, A.

  Reference:

  International Journal Of Molecular Sciences 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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  Reference:

  Annals Of The Rheumatic Diseases 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;

  (...)

  Moreno-Lozano, PJ; Milisenda, JC; Cardellach, F; Grau-Junyent, JM; Garrabou, G.

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  Reference:

  Journal Of Cachexia Sarcopenia And Muscle 2023.

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

  Bullich, G; Matalonga, L; Pujadas, M; Papakonstantinou, A; Piscia, D;

  (...)

  Macaya, A; Palau, F; Ribes, A; Perez-Jurado, LA; Beltran, S.

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  Reference:

  Journal Of Molecular Diagnostics 2022.

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

  Bujan, N; Morén, C; García-García, FJ; Blázquez, A; Carnicer, C;

  (...)

  Fernández-Moreno, MA; Ruiz-Pesini, E; Garcia-Arumí, E; Rodríguez-Aguilera, JC; Garrabou, G.

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  Reference:

  Antioxidants 2022.

• Progressive endothelial cell damage in correlation with sepsis severity

  Fernandez, Sara; Palomo, Marta; Molina, Patricia; Diaz-Ricart, Maribel; Escolar, Gines;

  (...)

  Torramade-Moix, Sergi; Rovira, Montserrat; Carreras, Enric; Nicolas, Josep M; Castro, Pedro.

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  Reference:

  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.

  Reference:

  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.

  Reference:

  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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  Reference:

  Human Mutation 2019.