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Celia's encephalopathy and c.974dupG in BSCL2 gene: a hidden change in a known variant.
Sánchez-Iglesias S, Crocker M, O'Callaghan M, Darling A, García-Cazorla A, Domingo-Jiménez R, Castro A, Fernández-Pombo A, Ruibal Á, Aguiar P, Garrido-Pumar M, Rodríguez-Núñez A, Álvarez-Escudero J, Brown RJ, Araújo-Vilar D. Sánchez-Iglesias S, et al. Among authors: ruibal a. Neurogenetics. 2019 May;20(2):73-82. doi: 10.1007/s10048-019-00574-5. Epub 2019 Mar 23. Neurogenetics. 2019. PMID: 30903322 Free PMC article.
Association of metreleptin treatment and dietary intervention with neurological outcomes in Celia's encephalopathy.
Araújo-Vilar D, Domingo-Jiménez R, Ruibal Á, Aguiar P, Ibáñez-Micó S, Garrido-Pumar M, Martínez-Olmos MÁ, López-Soler C, Guillín-Amarelle C, González-Rodríguez M, Rodríguez-Núñez A, Álvarez-Escudero J, Liñares-Paz M, González-Méndez B, Rodríguez-García S, Sánchez-Iglesias S. Araújo-Vilar D, et al. Among authors: ruibal a. Eur J Hum Genet. 2018 Mar;26(3):396-406. doi: 10.1038/s41431-017-0052-8. Epub 2018 Jan 24. Eur J Hum Genet. 2018. PMID: 29367704 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: ruibal 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
A Systematic Review of PET Textural Analysis and Radiomics in Cancer.
Piñeiro-Fiel M, Moscoso A, Pubul V, Ruibal Á, Silva-Rodríguez J, Aguiar P. Piñeiro-Fiel M, et al. Among authors: ruibal a. Diagnostics (Basel). 2021 Feb 23;11(2):380. doi: 10.3390/diagnostics11020380. Diagnostics (Basel). 2021. PMID: 33672285 Free PMC article. Review.
303 results