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Page 1
Transcriptomic profiling reveals distinct subsets of immune checkpoint inhibitor induced myositis.
Pinal-Fernandez I, Quintana A, Milisenda JC, Casal-Dominguez M, Muñoz-Braceras S, Derfoul A, Torres-Ruiz J, Pak K, Dell'Orso S, Naz F, Gutierrez-Cruz G, Milone M, Shelly S, Duque-Jaimez Y, Tobias-Baraja E, Matas-Garcia A, Garrabou G, Padrosa J, Ros J, Trallero-Araguás E, Walitt B, Christopher-Stine L, Lloyd TE, Zhao C, Swift S, Rajan A, Grau-Junyent JM, Selva-O'Callaghan A, Liewluck T, Mammen AL. Pinal-Fernandez I, et al. Among authors: grau junyent jm. Ann Rheum Dis. 2023 Jun;82(6):829-836. doi: 10.1136/ard-2022-223792. Epub 2023 Feb 17. Ann Rheum Dis. 2023. PMID: 36801811 Free PMC article.
Variants in DTNA cause a mild, dominantly inherited muscular dystrophy.
Nascimento A, Bruels CC, Donkervoort S, Foley AR, Codina A, Milisenda JC, Estrella EA, Li C, Pijuan J, Draper I, Hu Y, Stafki SA, Pais LS, Ganesh VS, O'Donnell-Luria A, Syeda SB, Carrera-García L, Expósito-Escudero J, Yubero D, Martorell L, Pinal-Fernandez I, Lidov HGW, Mammen AL, Grau-Junyent JM, Ortez C, Palau F, Ghosh PS, Darras BT, Jou C, Kunkel LM, Hoenicka J, Bönnemann CG, Kang PB, Natera-de Benito D. Nascimento A, et al. Among authors: grau junyent jm. Acta Neuropathol. 2023 Apr;145(4):479-496. doi: 10.1007/s00401-023-02551-7. Epub 2023 Feb 17. Acta Neuropathol. 2023. PMID: 36799992 Free PMC article.
Unravelling inclusion body myositis using a patient-derived fibroblast model.
Cantó-Santos J, Valls-Roca L, Tobías E, García-García FJ, Guitart-Mampel M, Esteve-Codina A, Martín-Mur B, Casado M, Artuch R, Solsona-Vilarrasa E, Fernandez-Checa JC, García-Ruiz C, Rentero C, Enrich C, Moreno-Lozano PJ, Milisenda JC, Cardellach F, Grau-Junyent JM, Garrabou G. Cantó-Santos J, et al. Among authors: grau junyent jm. J Cachexia Sarcopenia Muscle. 2023 Apr;14(2):964-977. doi: 10.1002/jcsm.13178. Epub 2023 Mar 1. J Cachexia Sarcopenia Muscle. 2023. PMID: 36860172 Free PMC article.
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, Torres-Ruiz J, Dell'Orso S, Naz F, Gutierrez-Cruz G, Duque-Jaimez Y, Matas-Garcia A, Padrosa J, Garcia-Garcia FJ, Guitart-Mampel M, Garrabou G, Trallero-Araguás E, Walitt B, Paik JJ, Albayda J, Christopher-Stine L, Lloyd TE, Grau-Junyent JM, Selva-O'Callaghan A, Mammen AL. Pinal-Fernandez I, et al. Among authors: grau junyent jm. Ann Rheum Dis. 2023 Aug;82(8):1091-1097. doi: 10.1136/ard-2023-223873. Epub 2023 May 2. Ann Rheum Dis. 2023. PMID: 37130727 Free PMC article.
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, Guitart-Mampel M, Andújar-Sánchez F, Esteve-Codina A, Martín-Mur B, Padrosa J, Aránega R, Moreno-Lozano PJ, Milisenda JC, Artuch R, Grau-Junyent JM, Garrabou G. Cantó-Santos J, et al. Among authors: grau junyent jm. Antioxidants (Basel). 2023 Aug 19;12(8):1639. doi: 10.3390/antiox12081639. Antioxidants (Basel). 2023. PMID: 37627634 Free PMC article.
Screening for late-onset Pompe disease in Internal Medicine departments in Spain.
López-Rodríguez M, Torralba-Cabeza MA, de Pedro IP, Rivera A, Gil RS, Gómez-Belda A, de la Peña JLP, de Los Santos Moreno A, Selva-O'Callaghan A, Gárate IG, García AG, Hurtado R, de Ureta PT, Barba-Romero MÁ, Milisenda JC, Grau-Junyent JM; POMPE study group. López-Rodríguez M, et al. Among authors: grau junyent jm. Orphanet J Rare Dis. 2023 Aug 31;18(1):256. doi: 10.1186/s13023-023-02887-z. Orphanet J Rare Dis. 2023. PMID: 37653444 Free PMC article.
Identification of Unique microRNA Profiles in Different Types of Idiopathic Inflammatory Myopathy.
Muñoz-Braceras S, Pinal-Fernandez I, Casal-Dominguez M, Pak K, Milisenda JC, Lu S, Gadina M, Naz F, Gutierrez-Cruz G, Dell'Orso S, Torres-Ruiz J, Grau-Junyent JM, Selva-O'Callaghan A, Paik JJ, Albayda J, Christopher-Stine L, Lloyd TE, Corse AM, Mammen AL. Muñoz-Braceras S, et al. Among authors: grau junyent jm. Cells. 2023 Sep 2;12(17):2198. doi: 10.3390/cells12172198. Cells. 2023. PMID: 37681930 Free PMC article.
Preparing Enteral Formulas for Adult Patients with Phenylketonuria: A Minor Necessity but Major Challenge-A Case Report.
Pané A, Carrasco-Serrano M, Milad C, Leyes P, Moreno-Lozano PJ, Ventura R, Milisenda JC, García-García FJ, Garrabou G, García-Villoria J, López-Galera RM, Ribes A, Grau-Junyent JM, Forga-Visa MT, Montserrat-Carbonell C, On Behalf Of Pku Cat Consortium. Pané A, et al. Among authors: grau junyent jm. J Clin Med. 2023 Dec 1;12(23):7452. doi: 10.3390/jcm12237452. J Clin Med. 2023. PMID: 38068509 Free PMC article.
Volumetric brain reductions in adult patients with phenylketonuria and their relationship with blood phenylalanine levels.
Pardo J, Capdevila-Lacasa C, Segura B, Pané A, Montserrat C, de Talló Forga-Visa M, Moreno PJ, Garrabou G, Grau-Junyent JM, Junqué C; Consortium PKU.cat.. Pardo J, et al. Among authors: grau junyent jm. J Neurodev Disord. 2024 Jun 21;16(1):33. doi: 10.1186/s11689-024-09553-w. J Neurodev Disord. 2024. PMID: 38907189 Free PMC article.
77 results