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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.
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.
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
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.
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.