Myositis Autoantigen Expression Correlates With Muscle Regeneration but Not Autoantibody Specificity
Pinal‐Fernandez, Iago, Amici, David R., Parks, Cassie A., Derfoul, Assia, Casal‐Dominguez, Maria, Pak, Katherine, Yeker, Richard, Plotz, Paul, Milisenda, Jose C., Grau‐Junyent, Josep M., Selva‐O'Callaghan, Albert, Paik, Julie J., Albayda, Jemima, Corse, Andrea M., Lloyd, Thomas E., Christopher‐Stine, Lisa, Mammen, Andrew L.
Published in Arthritis & rheumatology (Hoboken, N.J.) (01.08.2019)
Published in Arthritis & rheumatology (Hoboken, N.J.) (01.08.2019)
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Journal Article
Very Long Time Persistent HyperCKemia as the First Manifestation of McLeod Syndrome: A Case Report
Torres, Viviana, Painous, Cèlia, Santacruz, Pilar, Sánchez, Aurora, Sanz, Cristina, Grau‐Junyent, Josep M., Muñoz, Esteban
Published in Movement disorders clinical practice (Hoboken, N.J.) (01.08.2022)
Published in Movement disorders clinical practice (Hoboken, N.J.) (01.08.2022)
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Journal Article
Identification of distinctive interferon gene signatures in different types of myositis
Pinal-Fernandez, Iago, Casal-Dominguez, Maria, Derfoul, Assia, Pak, Katherine, Plotz, Paul, Miller, Frederick W, Milisenda, Jose C, Grau-Junyent, Josep M, Selva-O'Callaghan, Albert, Paik, Julie, Albayda, Jemima, Christopher-Stine, Lisa, Lloyd, Thomas E, Corse, Andrea M, Mammen, Andrew L
Published in Neurology (17.09.2019)
Published in Neurology (17.09.2019)
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Journal Article
The Impact of Mitochondrial Deficiencies in Neuromuscular Diseases
Cantó-Santos, Judith, Grau-Junyent, Josep M., Garrabou, Glòria
Published in Antioxidants (01.10.2020)
Published in Antioxidants (01.10.2020)
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Journal Article
Screening for late-onset Pompe disease in Internal Medicine departments in Spain
López-Rodríguez, Mónica, Torralba-Cabeza, Miguel Angel, de Pedro, Iván Pérez, Rivera, Alberto, Gil, Roi Suarez, Gómez-Belda, Ana, de la Peéa, Jose Luis Patier, de los Santos Moreno, Alberto, Selva-O'Callaghan, Albert, Gárate, Igor Gómez, García, Andrés González, Hurtado, Roberto, de Ureta, Pablo Tutor, Barba-Romero, Miguel Ãngel, Milisenda, José C, Grau-Junyent, Josep M
Published in Orphanet journal of rare diseases (31.08.2023)
Published in Orphanet journal of rare diseases (31.08.2023)
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Journal Article
Unravelling inclusion body myositis using a patient‐derived fibroblast model
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
Published in Journal of cachexia, sarcopenia and muscle (01.04.2023)
Published in Journal of cachexia, sarcopenia and muscle (01.04.2023)
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Journal Article
Integrated Multi-Omics Analysis for Inferring Molecular Players in Inclusion Body Myositis
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
Published in Antioxidants (01.08.2023)
Published in Antioxidants (01.08.2023)
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Journal Article
Mitochondrial Dysfunction: A Common Hallmark Underlying Comorbidity between sIBM and Other Degenerative and Age-Related Diseases
Catalán-García, Marc, García-García, Francesc Josep, Moreno-Lozano, Pedro J, Alcarraz-Vizán, Gema, Tort-Merino, Adrià, Milisenda, José César, Cantó-Santos, Judith, Barcos-Rodríguez, Tamara, Cardellach, Francesc, Lladó, Albert, Novials, Anna, Garrabou, Glòria, Grau-Junyent, Josep M
Published in Journal of clinical medicine (13.05.2020)
Published in Journal of clinical medicine (13.05.2020)
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Journal Article
Tumour TIF1 mutations and loss of heterozygosity related to cancer-associated myositis
Pinal-Fernandez, Iago, Ferrer-Fabregas, Berta, Trallero-Araguas, Ernesto, Balada, Eva, Martínez, Maria Angeles, Milisenda, Jose César, Aparicio-Español, Gloria, Labrador-Horrillo, Moises, Garcia-Patos, Vicente, Grau-Junyent, Josep M, Selva-O'Callaghan, Albert
Published in Rheumatology (Oxford, England) (01.02.2018)
Published in Rheumatology (Oxford, England) (01.02.2018)
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Journal Article
Circulating Cell-Free Mitochondrial DNA in Cerebrospinal Fluid as a Biomarker for Mitochondrial Diseases
Trifunov, Selena, Paredes-Fuentes, Abraham J, Badosa, Carmen, Codina, Anna, Montoya, Julio, Ruiz-Pesini, Eduardo, Jou, Cristina, Garrabou, Glòria, Grau-Junyent, Josep M, Yubero, Dèlia, Montero, Raquel, Muchart, Jordi, Ortigoza-Escobar, Juan D, O’Callaghan, Maria M, Nascimento, Andrés, Català, Albert, Garcia-Cazorla, Àngels, Jimenez-Mallebrera, Cecilia, Artuch, Rafael
Published in Clinical chemistry (Baltimore, Md.) (01.08.2021)
Published in Clinical chemistry (Baltimore, Md.) (01.08.2021)
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Journal Article
Bosentan for Cutaneous Ulcers in Anti-MDA5 Dermatomyositis
Combalia, Andrea, Giavedoni, Priscila, Tamez, Lorena, Grau-Junyent, Josep M, Mascaró, Jr, Jose M
Published in JAMA dermatology (Chicago, Ill.) (01.03.2018)
Published in JAMA dermatology (Chicago, Ill.) (01.03.2018)
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Journal Article
Variants in DTNA cause a mild, dominantly inherited muscular dystrophy
Nascimento, Andres, Bruels, Christine C., Donkervoort, Sandra, Foley, A. Reghan, Codina, Anna, Milisenda, Jose C., Estrella, Elicia A., Li, Chengcheng, Pijuan, Jordi, Draper, Isabelle, Hu, Ying, Stafki, Seth A., Pais, Lynn S., Ganesh, Vijay S., O’Donnell-Luria, Anne, Syeda, Safoora B., Carrera-García, Laura, Expósito-Escudero, Jessica, Yubero, Delia, Martorell, Loreto, Pinal-Fernandez, Iago, Lidov, Hart G. W., Mammen, Andrew L., Grau-Junyent, Josep M., Ortez, Carlos, Palau, Francesc, Ghosh, Partha S., Darras, Basil T., Jou, Cristina, Kunkel, Louis M., Hoenicka, Janet, Bönnemann, Carsten G., Kang, Peter B., Natera-de Benito, Daniel
Published in Acta neuropathologica (01.04.2023)
Published in Acta neuropathologica (01.04.2023)
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Journal Article
Muscle inflammation, autoimmune Addison's disease and sarcoidosis in a patient with dysferlin deficiency
Selva-O'Callaghan, Albert, Labrador-Horrillo, Moises, Gallardo, Eduard, Herruzo, Angel, Grau-Junyent, Josep M a, Vilardell-Tarres, Miquel
Published in Neuromuscular disorders : NMD (01.03.2006)
Published in Neuromuscular disorders : NMD (01.03.2006)
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Journal Article
Volumetric brain reductions in adult patients with phenylketonuria and their relationship with blood phenylalanine levels
Pardo, Jèssica, Capdevila-Lacasa, Clara, Segura, Bàrbara, Pané, Adriana, Montserrat, Cristina, de Talló Forga-Visa, Maria, Moreno, Pedro J, Garrabou, Glòria, Grau-Junyent, Josep M, Junqué, Carme, Argudo-Ramírez, Ana, Barrau-Martínez, Blanca, Cantó, Judith, Campistol, Jaume, Cardellach, Francesc, Casals-Pascual, Climent, Chiva-Blanch, Gemma, García-Arenas, Dolores, García-García, Francesc Josep, García-Villoria, Judit, González de Aledo-Castillo, José Manuel, González-Rodríguez, Arnau, Guitart-Mampel, Mariona, Isern, Paula, Jiménez, Amanda, Laudo, Berta, Llorach, Rafael, Andújar-Sánchez, Félix, López-Galera, Rosa, Meavilla, Silvia Mª, Milisenda, José Cesar, Morales, Blai, Moreno-Lozano, Pedro Juan, Moreno, Julián, Nos, Mònica, Ormazabal, Aida, Ortega Ferrer, Montserrat, Ortega, Emilio, Padrosa, Joan, Paredes, Abraham José, Rubio, Elisa, Tobías, Ester, Torremade, Josep, Urpi-Sarda, Mireia, Valls, Laura, Ventura, Roser, Vergara-Gómez, Andrea, Viaplana, Judith, Viéals, Clara
Published in Journal of neurodevelopmental disorders (21.06.2024)
Published in Journal of neurodevelopmental disorders (21.06.2024)
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Journal Article
Identification of a novel myositis-associated antibody directed against cortactin
Labrador-Horrillo, Moisés, Martínez, Maria Angeles, Selva-O'Callaghan, Albert, Trallero-Araguás, Ernesto, Grau-Junyent, Josep M, Vilardell-Tarrés, Miquel, Juarez, Candido
Published in Autoimmunity reviews (01.10.2014)
Published in Autoimmunity reviews (01.10.2014)
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Journal Article
Delayed diagnosis of late-onset Pompe disease in patients with myopathies of unknown origin and/or hyperCKemia
Pérez-López, Jordi, Selva-O'Callaghan, Albert, Grau-Junyent, Josep M., Gallego-Galindo, Luis, Coll, M. Josep, García-Morillo, Salvador, Torralba-Cabeza, Miguel A., Vilardell-Tarrés, Miquel
Published in Molecular genetics and metabolism (01.04.2015)
Published in Molecular genetics and metabolism (01.04.2015)
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Journal Article
Biologic therapy in idiopathic inflammatory myopathy
Selva-O'Callaghan, Albert, Ramos Casals, Manel, Grau Junyent, Josep M
Published in Medicina clinica (15.09.2014)
Published in Medicina clinica (15.09.2014)
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Journal Article
Transition process from paediatric to adult care in patients with inborn errors of metabolism. Consensus statement
Pérez-López, Jordi, Ceberio-Hualde, Leticia, García Morillo, José Salvador, Grau-Junyent, Josep M, Hermida Ameijeiras, Álvaro, López-Rodríguez, Mónica, Morales-Conejo, Montserrat, Nava Mateos, Juan José, Aldámiz Echevarri Azuara, Luis José, Campistol, Jaume, Couce, M Luz, García-Silva, María Teresa, González Gutiérrez-Solana, Luis, Del Toro, Mireia
Published in Medicina clinica (02.12.2016)
Published in Medicina clinica (02.12.2016)
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