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Intermediate Repeat Expansion in the ATXN2 Gene as a Risk Factor in the ALS and FTD Spanish Population.
Borrego-Hernández D, Vázquez-Costa JF, Domínguez-Rubio R, Expósito-Blázquez L, Aller E, Padró-Miquel A, García-Casanova P, Colomina MJ, Martín-Arriscado C, Osta R, Cordero-Vázquez P, Esteban-Pérez J, Povedano-Panadés M, García-Redondo A. Borrego-Hernández D, et al. Among authors: aller e. Biomedicines. 2024 Feb 2;12(2):356. doi: 10.3390/biomedicines12020356. Biomedicines. 2024. PMID: 38397958 Free PMC article.
Diagnostic Efficacy of Genetic Studies in a Series of Hereditary Cerebellar Ataxias in Eastern Spain.
Baviera-Muñoz R, Carretero-Vilarroig L, Vázquez-Costa JF, Morata-Martínez C, Campins-Romeu M, Muelas N, Sastre-Bataller I, Martínez-Torres I, Pérez-García J, Sivera R, Sevilla T, Vilchez JJ, Jaijo T, Espinós C, Millán JM, Bataller L, Aller E. Baviera-Muñoz R, et al. Among authors: aller e. Neurol Genet. 2022 Nov 14;8(6):e200038. doi: 10.1212/NXG.0000000000200038. eCollection 2022 Dec. Neurol Genet. 2022. PMID: 36530930 Free PMC article.
Clinical and genetic characteristics of 21 Spanish patients with biallelic pathogenic SPG7 mutations.
Baviera-Muñoz R, Campins-Romeu M, Carretero-Vilarroig L, Sastre-Bataller I, Martínez-Torres I, Vázquez-Costa JF, Muelas N, Sevilla T, Vílchez JJ, Aller E, Jaijo T, Bataller L, Espinós C. Baviera-Muñoz R, et al. Among authors: aller e. J Neurol Sci. 2021 Oct 15;429:118062. doi: 10.1016/j.jns.2021.118062. Epub 2021 Aug 30. J Neurol Sci. 2021. PMID: 34500365
Spinocerebellar Ataxia 36 is a Frequent Cause of Hereditary Ataxia in Eastern Spain.
Baviera-Muñoz R, Carretero-Vilarroig L, Muelas N, Sivera R, Sopena-Novales P, Martínez-Sanchis B, Sastre-Bataller I, Campins-Romeu M, Martínez-Torres I, García-Verdugo JM, Millán JM, Jaijo T, Aller E, Bataller L. Baviera-Muñoz R, et al. Among authors: aller e. Mov Disord Clin Pract. 2023 May 5;10(6):992-997. doi: 10.1002/mdc3.13740. eCollection 2023 Jun. Mov Disord Clin Pract. 2023. PMID: 37332636 Free PMC article.
Microarray-based mutation analysis of 183 Spanish families with Usher syndrome.
Jaijo T, Aller E, García-García G, Aparisi MJ, Bernal S, Avila-Fernández A, Barragán I, Baiget M, Ayuso C, Antiñolo G, Díaz-Llopis M, Külm M, Beneyto M, Nájera C, Millán JM. Jaijo T, et al. Among authors: aller e. Invest Ophthalmol Vis Sci. 2010 Mar;51(3):1311-7. doi: 10.1167/iovs.09-4085. Epub 2009 Aug 13. Invest Ophthalmol Vis Sci. 2010. PMID: 19683999
Clinical aspects of Usher syndrome and the USH2A gene in a cohort of 433 patients.
Blanco-Kelly F, Jaijo T, Aller E, Avila-Fernandez A, López-Molina MI, Giménez A, García-Sandoval B, Millán JM, Ayuso C. Blanco-Kelly F, et al. Among authors: aller e. JAMA Ophthalmol. 2015 Feb;133(2):157-64. doi: 10.1001/jamaophthalmol.2014.4498. JAMA Ophthalmol. 2015. PMID: 25375654 Free article.
Unravelling the pathogenic role and genotype-phenotype correlation of the USH2A p.(Cys759Phe) variant among Spanish families.
Pérez-Carro R, Blanco-Kelly F, Galbis-Martínez L, García-García G, Aller E, García-Sandoval B, Mínguez P, Corton M, Mahíllo-Fernández I, Martín-Mérida I, Avila-Fernández A, Millán JM, Ayuso C. Pérez-Carro R, et al. Among authors: aller e. PLoS One. 2018 Jun 18;13(6):e0199048. doi: 10.1371/journal.pone.0199048. eCollection 2018. PLoS One. 2018. PMID: 29912909 Free PMC article.
73 results