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Extreme Phenotypes With Identical Mutations: Two Patients With Same Non-sense NHEJ1 Homozygous Mutation.
Recio MJ, Dominguez-Pinilla N, Perrig MS, Rodriguez Vigil-Iturrate C, Salmón-Rodriguez N, Martinez Faci C, Castro-Panete MJ, Blas-Espada J, López-Nevado M, Ruiz-Garcia R, Chaparro-García R, Allende LM, Gonzalez-Granado LI. Recio MJ, et al. Front Immunol. 2019 Jan 7;9:2959. doi: 10.3389/fimmu.2018.02959. eCollection 2018. Front Immunol. 2019. PMID: 30666249 Free PMC article.
Diagnostic Performance and Clinical Applicability of Blood-Based Biomarkers in a Prospective Memory Clinic Cohort.
Sarto J, Ruiz-García R, Guillén N, Ramos-Campoy Ó, Falgàs N, Esteller D, Contador J, Fernández G, González Y, Tort-Merino A, Juncà-Parella J, Bosch B, Borrego-Écija S, Molina-Porcel L, Castellví M, Vergara M, Antonell A, Augé JM, Naranjo L, Sanchez-Valle R, Lladó A, Balasa M. Sarto J, et al. Neurology. 2023 Feb 21;100(8):e860-e873. doi: 10.1212/WNL.0000000000201597. Epub 2022 Nov 30. Neurology. 2023. PMID: 36450604 Free PMC article.
Sleep in Gerstmann-Straüssler-Scheinker disease.
Pérez-Carbonell L, Sarto J, Gaig C, Muñoz-Lopetegi A, Ruiz-García R, Naranjo L, Augé JM, Perissinotti A, Santamaria J, Iranzo A, Sánchez-Valle R. Pérez-Carbonell L, et al. Sleep Med. 2023 Aug;108:11-15. doi: 10.1016/j.sleep.2023.05.010. Epub 2023 May 22. Sleep Med. 2023. PMID: 37302168
Impact of demographics and comorbid conditions on plasma biomarkers concentrations and their diagnostic accuracy in a memory clinic cohort.
Sarto J, Esteller-Gauxax D, Tort-Merino A, Guillén N, Pérez-Millan A, Falgàs N, Borrego-Écija S, Fernández-Villullas G, Bosch B, Juncà-Parella J, Antonell A, Naranjo L, Ruiz-García R, Augé JM, Sánchez-Valle R, Lladó A, Balasa M. Sarto J, et al. J Neurol. 2024 Apr;271(4):1973-1984. doi: 10.1007/s00415-023-12153-8. Epub 2023 Dec 27. J Neurol. 2024. PMID: 38151575
Pseudoathetosis and Pseudodystonia in Sensory Ganglionopathy Due to Anti-Amphiphysin and Anti-Hu Antibodies: A Rare Presentation Underlying a Neoplastic Etiology.
Campo-Caballero D, Vinagre-Aragón A, Ruiz-Martinez J, Naranjo L, Ruiz-García R, Clavijo AR, González F. Campo-Caballero D, et al. Mov Disord Clin Pract. 2021 Dec 14;9(2):261-263. doi: 10.1002/mdc3.13389. eCollection 2022 Feb. Mov Disord Clin Pract. 2021. PMID: 36989006 Free PMC article. No abstract available.
Antibody Investigations in 2,750 Children With Suspected Autoimmune Encephalitis.
Chen LW, Guasp M, Olivé-Cirera G, Martínez-Hernandez E, Ruiz García R, Naranjo L, Saiz A, Armangue T, Dalmau J. Chen LW, et al. Neurol Neuroimmunol Neuroinflamm. 2023 Nov 15;11(1):e200182. doi: 10.1212/NXI.0000000000200182. Print 2024 Jan. Neurol Neuroimmunol Neuroinflamm. 2023. PMID: 37968128 Free PMC article.
A case of partial dedicator of cytokinesis 8 deficiency with altered effector phenotype and impaired CD8⁺ and natural killer cell cytotoxicity.
Ruiz-García R, Lermo-Rojo S, Martínez-Lostao L, Mancebo E, Mora-Díaz S, Paz-Artal E, Ruiz-Contreras J, Anel A, González-Granado LI, Allende LM. Ruiz-García R, et al. J Allergy Clin Immunol. 2014 Jul;134(1):218-21. doi: 10.1016/j.jaci.2014.01.023. Epub 2014 Mar 14. J Allergy Clin Immunol. 2014. PMID: 24636087 No abstract available.
107 results