González-Quintana, Adrián
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10

Novel NDUFA13 Mutations Associated with OXPHOS Deficiency a..:

González Quintana, Adrián ; García-Consuegra, Inés ; Belanger Quintana, Amaya...
González-Quintana, A., García-Consuegra, I., Belanger-Quintana, A., Serrano-Lorenzo, P., Lucía Mulas, A., Blázquez, A., Docampo, J., Ugalde, C., Morán, M., Arenas, J., & Martín, M. A. (2020). Novel NDUFA13 Mutations Associated with OXPHOS Deficiency and Leigh Syndrome: A Second Family Report. Genes, 11(8), 855. https://doi.org/10.3390/genes11080855.  , 2020
 
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Genotypic and phenotypic features of all Spanish patients w..:

Santalla Hernández, Alfredo ; Nogales-Gadea, Gisela ; Blázquez Encinar, Alberto...
González-Quintana, A., Encinar, A. B., Lucia, A., Ballester-Lopez, A., Santalla, A., Andreu, A. L., . & Vieitez, I. (2017). Genotypic and phenotypic features of all Spanish patients with McArdle disease: a 2016 update. BMC genomics, 18(8), 819..  , 2017
 
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Taking advantage of an old concept, "illegitimate transcrip..:

García-Consuegra, Inés ; Blázquez Encinar, Alberto ; Rubio, Juan Carlos...
Garcia-Consuegra, I., Blázquez, A., Rubio, J. C., Arenas, J., Ballester-Lopez, A., González-Quintana, A., . & Nogales-Gadea, G. (2016). Taking advantage of an old concept,[ldquo] illegitimate transcription [rdquo], for a proposed novel method of genetic diagnosis of McArdle disease. Genetics in Medicine, 18(11),1128-1135. DOI:10.1038/gim.2015.219.  , 2016
 
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Exercise intervention in a family with exercise intolerance..:

Morán, María ; Blázquez Encinar, Alberto ; Fiuza Luces, María del Carmen...
Morán, M., Blázquez, A., Fiuza-Luces, C., Díez-Bermejo, J., Delmiro, A., Docampo, J., . & Lucía, A. (2016). Exercise intervention in a family with exercise intolerance and a novel mutation in the mitochondrial POLG gene. Neuromuscular Disorders, 26, S174. DOI:10.1016/j.nmd.2016.06.321.  , 2016
 
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