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Homozygous R136S mutation in PRNP gene causes inherited early onset prion disease.
Ximelis T, Marín-Moreno A, Espinosa JC, Eraña H, Charco JM, Hernández I, Riveira C, Alcolea D, González-Roca E, Aldecoa I, Molina-Porcel L, Parchi P, Rossi M, Castilla J, Ruiz-García R, Gelpi E, Torres JM, Sánchez-Valle R. Ximelis T, et al. Among authors: gonzalez roca e. Alzheimers Res Ther. 2021 Oct 18;13(1):176. doi: 10.1186/s13195-021-00912-6. Alzheimers Res Ther. 2021. PMID: 34663460 Free PMC article.
Clinical and genetic characterization of the autoinflammatory diseases diagnosed in an adult reference center.
Hernández-Rodríguez J, Ruíz-Ortiz E, Tomé A, Espinosa G, González-Roca E, Mensa-Vilaró A, Prieto-González S, Espígol-Frigolé G, Mensa J, Cardellach F, Grau JM, Cid MC, Yagüe J, Aróstegui JI, Cervera R. Hernández-Rodríguez J, et al. Autoimmun Rev. 2016 Jan;15(1):9-15. doi: 10.1016/j.autrev.2015.08.008. Epub 2015 Aug 21. Autoimmun Rev. 2016. PMID: 26299986 Review.
Pyruvate kinase deficiency and severe congenital hemolytic anemia in a double heterozygous patient with paternal transmission of an early germ-line de novo mutation.
Mañú-Pereira Mdel M, Gonzalez-Roca E, van Solinge WW, Llaudet-Planas E, Sevilla J, Montllor L, Mensa-Vilaro A, Ploos van Amstel HK, van Wijk R, Vives-Corrons J. Mañú-Pereira Mdel M, et al. Am J Hematol. 2015 Dec;90(12):E217-9. doi: 10.1002/ajh.24178. Epub 2015 Nov 17. Am J Hematol. 2015. PMID: 26315463 Free article. No abstract available.
Hypophosphatasia: A Novel Mutation Associated with an Atypical Newborn Presentation.
Esmel-Vilomara R, Hernández S, Campos-Martorell A, González-Roca E, Yeste D, Castillo F. Esmel-Vilomara R, et al. Among authors: gonzalez roca e. J Clin Res Pediatr Endocrinol. 2020 Mar 19;12(1):104-108. doi: 10.4274/jcrpe.galenos.2019.2018.0263. Epub 2019 Apr 1. J Clin Res Pediatr Endocrinol. 2020. PMID: 30929401 Free PMC article.
Biallelic loss-of-function LACC1/FAMIN Mutations Presenting as Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis.
Rabionet R, Remesal A, Mensa-Vilaró A, Murías S, Alcobendas R, González-Roca E, Ruiz-Ortiz E, Antón J, Iglesias E, Modesto C, Comas D, Puig A, Drechsel O, Ossowski S, Yagüe J, Merino R, Estivill X, Arostegui JI. Rabionet R, et al. Among authors: gonzalez roca e. Sci Rep. 2019 Mar 14;9(1):4579. doi: 10.1038/s41598-019-40874-2. Sci Rep. 2019. PMID: 30872671 Free PMC article.
Massively parallel sequencing reveals maternal somatic IL2RG mosaicism in an X-linked severe combined immunodeficiency family.
Alsina L, González-Roca E, Giner MT, Piquer M, Puga I, Pascal M, Ruiz-Ortiz E, Badell I, Martín-Mateos MA, Cerutti A, Juan M, Yagüe J, Plaza AM, Aróstegui JI. Alsina L, et al. J Allergy Clin Immunol. 2013 Sep;132(3):741-743.e2. doi: 10.1016/j.jaci.2013.03.038. Epub 2013 May 15. J Allergy Clin Immunol. 2013. PMID: 23683512 No abstract available.
30 results