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Year Number of Results
2001 1
2002 1
2003 1
2004 3
2005 1
2006 4
2007 3
2008 3
2009 2
2010 8
2011 4
2012 3
2013 6
2014 4
2015 4
2016 5
2017 2
2018 5
2019 3
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2021 6
2022 4
2023 2
2024 3
2025 6

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81 results

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Page 1
Usher Syndrome: Genetics of a Human Ciliopathy.
Fuster-García C, García-Bohórquez B, Rodríguez-Muñoz A, Aller E, Jaijo T, Millán JM, García-García G. Fuster-García C, et al. Among authors: aller e. Int J Mol Sci. 2021 Jun 23;22(13):6723. doi: 10.3390/ijms22136723. Int J Mol Sci. 2021. PMID: 34201633 Free PMC article. Review.
Targeted next generation sequencing for molecular diagnosis of Usher syndrome.
Aparisi MJ, Aller E, Fuster-García C, García-García G, Rodrigo R, Vázquez-Manrique RP, Blanco-Kelly F, Ayuso C, Roux AF, Jaijo T, Millán JM. Aparisi MJ, et al. Among authors: aller e. Orphanet J Rare Dis. 2014 Nov 18;9:168. doi: 10.1186/s13023-014-0168-7. Orphanet J Rare Dis. 2014. PMID: 25404053 Free PMC article.
Correlation between SMA type and SMN2 copy number revisited: An analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases.
Calucho M, Bernal S, Alías L, March F, Venceslá A, Rodríguez-Álvarez FJ, Aller E, Fernández RM, Borrego S, Millán JM, Hernández-Chico C, Cuscó I, Fuentes-Prior P, Tizzano EF. Calucho M, et al. Among authors: aller e. Neuromuscul Disord. 2018 Mar;28(3):208-215. doi: 10.1016/j.nmd.2018.01.003. Epub 2018 Jan 11. Neuromuscul Disord. 2018. PMID: 29433793
Exploring non-coding variants and evaluation of antisense oligonucleotides for splicing redirection in Usher syndrome.
García-Bohórquez B, Barberán-Martínez P, Aller E, Jaijo T, Mínguez P, Rodilla C, Fernández-Caballero L, Blanco-Kelly F, Ayuso C, Sanchis-Juan A, Broekman S, de Vrieze E, van Wijk E, García-García G, Millán JM. García-Bohórquez B, et al. Among authors: aller e. Mol Ther Nucleic Acids. 2024 Oct 28;35(4):102374. doi: 10.1016/j.omtn.2024.102374. eCollection 2024 Dec 10. Mol Ther Nucleic Acids. 2024. PMID: 39629117 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.
Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications.
Perea-Romero I, Gordo G, Iancu IF, Del Pozo-Valero M, Almoguera B, Blanco-Kelly F, Carreño E, Jimenez-Rolando B, Lopez-Rodriguez R, Lorda-Sanchez I, Martin-Merida I, Pérez de Ayala L, Riveiro-Alvarez R, Rodriguez-Pinilla E, Tahsin-Swafiri S, Trujillo-Tiebas MJ; ESRETNET Study Group; ERDC Study Group; Associated Clinical Study Group; Garcia-Sandoval B, Minguez P, Avila-Fernandez A, Corton M, Ayuso C. Perea-Romero I, et al. Sci Rep. 2021 Jan 15;11(1):1526. doi: 10.1038/s41598-021-81093-y. Sci Rep. 2021. PMID: 33452396 Free PMC article.
Starches, sugars and obesity.
Aller EE, Abete I, Astrup A, Martinez JA, van Baak MA. Aller EE, et al. Nutrients. 2011 Mar;3(3):341-69. doi: 10.3390/nu3030341. Epub 2011 Mar 14. Nutrients. 2011. PMID: 22254101 Free PMC article. Review.
The cilium: a cellular antenna with an influence on obesity risk.
Mariman EC, Vink RG, Roumans NJ, Bouwman FG, Stumpel CT, Aller EE, van Baak MA, Wang P. Mariman EC, et al. Among authors: aller ee. Br J Nutr. 2016 Aug;116(4):576-92. doi: 10.1017/S0007114516002282. Epub 2016 Jun 20. Br J Nutr. 2016. PMID: 27323230 Review.
Clinical features, mutation spectrum and factors related to reaching molecular diagnosis in a cohort of patients with distal myopathies.
Muelas N, Carretero-Vilarroig L, Martí P, Azorín I, Frasquet M, Poyatos-García J, Portela S, Martínez-Vicente L, Argente-Escrig H, Sivera R, Vázquez-Costa JF, Tárrega M, Más-Estellés F, Vílchez R, Bataller L, Aller E, Diago L, Fores-Toribio L, Sevilla T, Vilchez JJ. Muelas N, et al. Among authors: aller e. J Neurol. 2025 Jan 7;272(1):97. doi: 10.1007/s00415-024-12821-3. J Neurol. 2025. PMID: 39775307
81 results