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Somatic NLRP3 mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes.
Nakagawa K, Gonzalez-Roca E, Souto A, Kawai T, Umebayashi H, Campistol JM, Cañellas J, Takei S, Kobayashi N, Callejas-Rubio JL, Ortego-Centeno N, Ruiz-Ortiz E, Rius F, Anton J, Iglesias E, Jimenez-Treviño S, Vargas C, Fernandez-Martin J, Calvo I, Hernández-Rodríguez J, Mendez M, Dordal MT, Basagaña M, Bujan S, Yashiro M, Kubota T, Koike R, Akuta N, Shimoyama K, Iwata N, Saito MK, Ohara O, Kambe N, Yasumi T, Izawa K, Kawai T, Heike T, Yagüe J, Nishikomori R, Aróstegui JI. Nakagawa K, et al. Ann Rheum Dis. 2015 Mar;74(3):603-10. doi: 10.1136/annrheumdis-2013-204361. Epub 2013 Dec 10. Ann Rheum Dis. 2015. PMID: 24326009 Free article.
Spanish cohort of VEXAS syndrome: clinical manifestations, outcome of treatments and novel evidences about UBA1 mosaicism.
Mascaro JM, Rodriguez-Pinto I, Poza G, Mensa-Vilaro A, Fernandez-Martin J, Caminal-Montero L, Espinosa G, Hernández-Rodríguez J, Diaz M, Rita-Marques J, Sanmarti R, Castañeda S, Colunga D, Coto-Hernández R, Fanlo P, Elejalde JI, Bujan S, Figueras I, Marco FM, Andrés M, Suárez S, Gonzalez-Garcia A, Fustà-Novell X, Garcia-Belando C, Granados A, Fernandez-Figueras MT, Quilis N, Orriols-Caba M, Gómez de la Torre R, Cid MC, Espígol-Frigolé G, Alvarez-Abella A, Labrador E, Rozman M, Lopez-Guerra M, Castillo P, Alamo-Moreno JR, Gonzalez-Roca E, Plaza S, Fabregat V, Lara R, Vicente-Rabaneda EF, Tejedor-Vaquero S, Magri G, Bonet N, Solis-Moruno M, Cerutti A, Fornas O, Casals F, Yagüe J, Aróstegui JI. Mascaro JM, et al. Ann Rheum Dis. 2023 Dec;82(12):1594-1605. doi: 10.1136/ard-2023-224460. Epub 2023 Sep 4. Ann Rheum Dis. 2023. PMID: 37666646 Free PMC article.
Ocular involvement in adult and paediatric patients with monogenic autoinflammatory diseases: a Spanish multicentre retrospective study.
Fonollosa A, Pelegrín L, García-Morillo S, Buján-Rivas S, Distefano L, Robles-Maruenda A, Fernández-Martín J, González-García A, Garcia-Aparicio Á, Ortego-Centeno N, Llorenç V, Sainz de la Maza M, Pinedo C, Sopeña B, Cocho L, Carreño E, Blanco R, Antón J, Pérez-Quintana M, Marques-Soares JR, Artaraz J, Ruiz-Arruza I, Soto-Peleteiro A, Gómez-Caverzaschi V, Araújo O, Espinosa G, Adan A, Fabiani C, Cantarini L, Hernández-Rodríguez J; Spanish Society of Ocular Inflammation (SEIOC) and the AutoInflammatory Diseases Alliance (AIDA) Network. Fonollosa A, et al. Among authors: fernandez martin j. Clin Exp Rheumatol. 2023 Oct;41(10):2105-2114. doi: 10.55563/clinexprheumatol/ukegcc. Epub 2023 Sep 28. Clin Exp Rheumatol. 2023. PMID: 37812477 Free article.
Fabry disease in the Spanish population: observational study with detection of 77 patients.
Vieitez I, Souto-Rodriguez O, Fernandez-Mosquera L, San Millan B, Teijeira S, Fernandez-Martin J, Martinez-Sanchez F, Aldamiz-Echevarria LJ, Lopez-Rodriguez M, Navarro C, Ortolano S. Vieitez I, et al. Orphanet J Rare Dis. 2018 Apr 10;13(1):52. doi: 10.1186/s13023-018-0792-8. Orphanet J Rare Dis. 2018. PMID: 29631605 Free PMC article.
Therapeutic Approaches in Lysosomal Storage Diseases.
Fernández-Pereira C, San Millán-Tejado B, Gallardo-Gómez M, Pérez-Márquez T, Alves-Villar M, Melcón-Crespo C, Fernández-Martín J, Ortolano S. Fernández-Pereira C, et al. Biomolecules. 2021 Nov 26;11(12):1775. doi: 10.3390/biom11121775. Biomolecules. 2021. PMID: 34944420 Free PMC article. Review.
146 results