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Page 1
Guanylate Kinase 1 Deficiency: A Novel and Potentially Treatable Mitochondrial DNA Depletion/Deletions Disease.
Hidalgo-Gutierrez A, Shintaku J, Ramon J, Barriocanal-Casado E, Pesini A, Saneto RP, Garrabou G, Milisenda JC, Matas-Garcia A, Gort L, Ugarteburu O, Gu Y, Koganti L, Wang T, Tadesse S, Meneri M, Sciacco M, Wang S, Tanji K, Horwitz MS, Dorschner MO, Mansukhani M, Comi GP, Ronchi D, Marti R, Ribes A, Tort F, Hirano M. Hidalgo-Gutierrez A, et al. Among authors: matas garcia a. Ann Neurol. 2024 Dec;96(6):1209-1224. doi: 10.1002/ana.27071. Epub 2024 Sep 4. Ann Neurol. 2024. PMID: 39230499
Pathological autoantibody internalisation in myositis.
Pinal-Fernandez I, Muñoz-Braceras S, Casal-Dominguez M, Pak K, Torres-Ruiz J, Musai J, Dell'Orso S, Naz F, Islam S, Gutierrez-Cruz G, Cano MD, Matas-Garcia A, Padrosa J, Tobias-Baraja E, Garrabou G, Aldecoa I, Espinosa G, Simeon-Aznar CP, Guillen-Del-Castillo A, Gil-Vila A, Trallero-Araguás E, Christopher-Stine L, Lloyd TE, Liewluck T, Naddaf E, Stenzel W, Greenberg SA, Grau JM, Selva-O'Callaghan A, Milisenda JC, Mammen AL. Pinal-Fernandez I, et al. Among authors: matas garcia a. Ann Rheum Dis. 2024 Oct 21;83(11):1549-1560. doi: 10.1136/ard-2024-225773. Ann Rheum Dis. 2024. PMID: 38902010
Systemic sclerosis associated myopathy: how to treat.
Selva-O'Callaghan A, Guillen-Del-Castillo A, Gil-Vila A, Trallero-Araguás E, Matas-García A, Milisenda JC, Pinal-Fernández I, Simeón-Aznar C. Selva-O'Callaghan A, et al. Among authors: matas garcia a. Curr Treatm Opt Rheumatol. 2023 Dec;9(4):151-167. doi: 10.1007/s40674-023-00206-y. Epub 2023 Jul 19. Curr Treatm Opt Rheumatol. 2023. PMID: 38737329 Free PMC article.
Pathogenic autoantibody internalization in myositis.
Pinal-Fernandez I, Muñoz-Braceras S, Casal-Dominguez M, Pak K, Torres-Ruiz J, Musai J, Dell'Orso S, Naz F, Islam S, Gutierrez-Cruz G, Cano MD, Matas-Garcia A, Padrosa J, Tobías-Baraja E, Garrabou G, Aldecoa I, Espinosa G, Simeon-Aznar CP, Guillen-Del-Castillo A, Gil-Vila A, Trallero-Araguas E, Christopher-Stine L, Lloyd TE, Liewluck T, Naddaf E, Stenzel W, Greenberg SA, Grau JM, Selva-O'Callaghan A, Milisenda JC, Mammen AL. Pinal-Fernandez I, et al. Among authors: matas garcia a. medRxiv [Preprint]. 2024 Jan 17:2024.01.15.24301339. doi: 10.1101/2024.01.15.24301339. medRxiv. 2024. Update in: Ann Rheum Dis. 2024 Oct 21;83(11):1549-1560. doi: 10.1136/ard-2024-225773 PMID: 38313303 Free PMC article. Updated. Preprint.
Neurological adverse events related to immune-checkpoint inhibitors in Spain: a retrospective cohort study.
Fonseca E, Cabrera-Maqueda JM, Ruiz-García R, Naranjo L, Diaz-Pedroche C, Velasco R, Macias-Gómez A, Milisenda JC, Muñoz-Farjas E, Pascual-Goñi E, Gállego Perez-Larraya J, Saiz A, Dalmau J, Blanco Y, Graus F, Martinez-Hernandez E; Neuro-ICI-Spain study group. Fonseca E, et al. Lancet Neurol. 2023 Dec;22(12):1150-1159. doi: 10.1016/S1474-4422(23)00335-6. Lancet Neurol. 2023. PMID: 37977714 Review.
Clinical Outcomes of Patients with Chronic Neuropathic Form of Gaucher Disease in the Spanish Real-World Setting: A Retrospective Study.
Stanescu S, Correcher Medina P, Del Castillo FJ, Alonso Luengo O, Arto Millan LM, Belanger Quintana A, Camprodon Gomez M, Diez Langhetée L, Garcia Campos O, Matas Garcia A, Perez-Moreno J, Rubio Gribble B, Visa-Reñé N, Giraldo-Castellano P, O'Callaghan Gordo M. Stanescu S, et al. Among authors: matas garcia a. Biomedicines. 2023 Oct 22;11(10):2861. doi: 10.3390/biomedicines11102861. Biomedicines. 2023. PMID: 37893235 Free PMC article.
Dermatomyositis unleashed by immune checkpoint inhibitors. Three additional cases and a review of the literature.
Guerra NL, Matas-García A, Serra-García L, Morgado-Carrasco D, Padrosa J, Aldecoa I, Duque Y, Casal-Dominguez M, Muñoz-Braceras S, Aranega R, Moreno-Lozano P, Cantó-Santos J, Garrabou G, Ruiz-Ortiz E, Trallero-Araguas E, Selva-O'Callaghan A, Grau JM, Puig S, Torres-Ruiz J, Mammen AL, Fernandez IP, Milisenda JC. Guerra NL, et al. Among authors: matas garcia a. Autoimmun Rev. 2023 Aug;22(8):103375. doi: 10.1016/j.autrev.2023.103375. Epub 2023 Jun 13. Autoimmun Rev. 2023. PMID: 37321468 Free PMC article. Review.
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: matas garcia a. 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.
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: matas garcia a. 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.
Coordinated local RNA overexpression of complement induced by interferon gamma in myositis.
Casal-Dominguez M, Pinal-Fernandez I, Pak K, Muñoz-Braceras S, Milisenda JC, Torres-Ruiz J, Dell Orso S, Naz F, Gutierrez-Cruz G, Duque-Jaimez Y, Matas-Garcia A, Valls-Roca L, Garrabou G, Trallero-Araguas E, Walitt B, Christopher-Stine L, Lloyd TE, Paik JJ, Albayda J, Corse A, Grau JM, Selva-O'Callaghan A, Mammen AL. Casal-Dominguez M, et al. Among authors: matas garcia a. Sci Rep. 2023 Feb 4;13(1):2038. doi: 10.1038/s41598-023-28838-z. Sci Rep. 2023. PMID: 36739295 Free PMC article.
18 results