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Page 1
Skipped BSCL2 Transcript in Celia's Encephalopathy (PELD): New Insights on Fatty Acids Involvement, Senescence and Adipogenesis.
Sánchez-Iglesias S, Unruh-Pinheiro A, Guillín-Amarelle C, González-Méndez B, Ruiz-Riquelme A, Rodríguez-Cañete BL, Rodríguez-García S, Guillén-Navarro E, Domingo-Jiménez R, Araújo-Vilar D. Sánchez-Iglesias S, et al. Among authors: ruiz riquelme a. PLoS One. 2016 Jul 8;11(7):e0158874. doi: 10.1371/journal.pone.0158874. eCollection 2016. PLoS One. 2016. PMID: 27391332 Free PMC article.
A new seipin-associated neurodegenerative syndrome.
Guillén-Navarro E, Sánchez-Iglesias S, Domingo-Jiménez R, Victoria B, Ruiz-Riquelme A, Rábano A, Loidi L, Beiras A, González-Méndez B, Ramos A, López-González V, Ballesta-Martínez MJ, Garrido-Pumar M, Aguiar P, Ruibal A, Requena JR, Araújo-Vilar D. Guillén-Navarro E, et al. Among authors: ruiz riquelme a. J Med Genet. 2013 Jun;50(6):401-9. doi: 10.1136/jmedgenet-2013-101525. Epub 2013 Apr 6. J Med Genet. 2013. PMID: 23564749
Celia's Encephalopathy (BSCL2-Gene-Related): Current Understanding.
Sánchez-Iglesias S, Fernández-Pombo A, Cobelo-Gómez S, Hermida-Ameijeiras Á, Alarcón-Martínez H, Domingo-Jiménez R, Ruíz Riquelme AI, Requena JR, Araújo-Vilar D. Sánchez-Iglesias S, et al. Among authors: ruiz riquelme ai. J Clin Med. 2021 Apr 1;10(7):1435. doi: 10.3390/jcm10071435. J Clin Med. 2021. PMID: 33916074 Free PMC article. Review.
α-Synuclein strains target distinct brain regions and cell types.
Lau A, So RWL, Lau HHC, Sang JC, Ruiz-Riquelme A, Fleck SC, Stuart E, Menon S, Visanji NP, Meisl G, Faidi R, Marano MM, Schmitt-Ulms C, Wang Z, Fraser PE, Tandon A, Hyman BT, Wille H, Ingelsson M, Klenerman D, Watts JC. Lau A, et al. Among authors: ruiz riquelme a. Nat Neurosci. 2020 Jan;23(1):21-31. doi: 10.1038/s41593-019-0541-x. Epub 2019 Dec 2. Nat Neurosci. 2020. PMID: 31792467 Free PMC article.
Aβ43 aggregates exhibit enhanced prion-like seeding activity in mice.
Ruiz-Riquelme A, Mao A, Barghash MM, Lau HHC, Stuart E, Kovacs GG, Nilsson KPR, Fraser PE, Schmitt-Ulms G, Watts JC. Ruiz-Riquelme A, et al. Acta Neuropathol Commun. 2021 May 10;9(1):83. doi: 10.1186/s40478-021-01187-6. Acta Neuropathol Commun. 2021. PMID: 33971978 Free PMC article.
Aggregation-resistant alpha-synuclein tetramers are reduced in the blood of Parkinson's patients.
de Boni L, Wallis A, Hays Watson A, Ruiz-Riquelme A, Leyland LA, Bourinaris T, Hannaway N, Wüllner U, Peters O, Priller J, Falkenburger BH, Wiltfang J, Bähr M, Zerr I, Bürger K, Perneczky R, Teipel S, Löhle M, Hermann W, Schott BH, Brockmann K, Spottke A, Haustein K, Breuer P, Houlden H, Weil RS, Bartels T. de Boni L, et al. Among authors: ruiz riquelme a. EMBO Mol Med. 2024 Jul;16(7):1657-1674. doi: 10.1038/s44321-024-00083-5. Epub 2024 Jun 5. EMBO Mol Med. 2024. PMID: 38839930 Free PMC article.