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220 results

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Page 1
PDH E1β deficiency with novel mutations in two patients with Leigh syndrome.
Quintana E, Mayr JA, García Silva MT, Font A, Tortoledo MA, Moliner S, Ozaez L, Lluch M, Cabello A, Ricoy JR, Koch J, Ribes A, Sperl W, Briones P. Quintana E, et al. Among authors: font a. J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S339-43. doi: 10.1007/s10545-009-1343-1. Epub 2009 Nov 9. J Inherit Metab Dis. 2009. PMID: 19924563
Protein expression profiles in patients carrying NFU1 mutations. Contribution to the pathophysiology of the disease.
Ferrer-Cortès X, Font A, Bujan N, Navarro-Sastre A, Matalonga L, Arranz JA, Riudor E, del Toro M, Garcia-Cazorla A, Campistol J, Briones P, Ribes A, Tort F. Ferrer-Cortès X, et al. Among authors: font a. J Inherit Metab Dis. 2013 Sep;36(5):841-7. doi: 10.1007/s10545-012-9565-z. Epub 2012 Nov 22. J Inherit Metab Dis. 2013. PMID: 23179554
A fatal mitochondrial disease is associated with defective NFU1 function in the maturation of a subset of mitochondrial Fe-S proteins.
Navarro-Sastre A, Tort F, Stehling O, Uzarska MA, Arranz JA, Del Toro M, Labayru MT, Landa J, Font A, Garcia-Villoria J, Merinero B, Ugarte M, Gutierrez-Solana LG, Campistol J, Garcia-Cazorla A, Vaquerizo J, Riudor E, Briones P, Elpeleg O, Ribes A, Lill R. Navarro-Sastre A, et al. Among authors: font a. Am J Hum Genet. 2011 Nov 11;89(5):656-67. doi: 10.1016/j.ajhg.2011.10.005. Am J Hum Genet. 2011. PMID: 22077971 Free PMC article.
Screening for nuclear genetic defects in the ATP synthase-associated genes TMEM70, ATP12 and ATP5E in patients with 3-methylglutaconic aciduria.
Tort F, Del Toro M, Lissens W, Montoya J, Fernàndez-Burriel M, Font A, Buján N, Navarro-Sastre A, López-Gallardo E, Arranz JA, Riudor E, Briones P, Ribes A. Tort F, et al. Among authors: font a. Clin Genet. 2011 Sep;80(3):297-300. doi: 10.1111/j.1399-0004.2011.01650.x. Clin Genet. 2011. PMID: 21815885 No abstract available.
Prognostic Expression Signature of RB1, PTEN, and TP53 Genes in Patients with Metastatic Hormone-sensitive Prostate Cancer Treated with Androgen Receptor Pathway Inhibitors.
Garcia de Herreros M, Jiménez N, Rodríguez-Carunchio L, Lillo E, Marín-Aguilera M, Ferrer-Mileo L, Aversa C, García-Esteve S, Padrosa J, Trias I, Fernández-Mañas L, Font A, Chirivella I, Figols M, Climent MÁ, Prat A, Reig Ò, Mellado B. Garcia de Herreros M, et al. Among authors: font a. Eur Urol Open Sci. 2024 Oct 21;70:86-90. doi: 10.1016/j.euros.2024.10.008. eCollection 2024 Dec. Eur Urol Open Sci. 2024. PMID: 39502104 Free PMC article.
The Toxicology Investigators Consortium 2023 Annual Report.
Hughes A, Amaducci A, Campleman SL, Li S, Costantini M, Spyres MB, Spungen H, Kent J, Falise A, Culbreth R, Wax PM, Brent J, Aldy K; Toxicology Investigators Consortium Study Group. Hughes A, et al. J Med Toxicol. 2024 Oct;20(4):350-380. doi: 10.1007/s13181-024-01033-w. Epub 2024 Sep 10. J Med Toxicol. 2024. PMID: 39256327
220 results