Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

My NCBI Filters
Text availability
Article attribute
Article type
Publication date

Search Results

23 results
Filters applied: . Clear all Results are displayed in a computed author sort order. Results by year timeline is unavailable
Page 1
Comprehensive Analysis of GABAA-A1R Developmental Alterations in Rett Syndrome: Setting the Focus for Therapeutic Targets in the Time Frame of the Disease.
Oyarzabal A, Xiol C, Castells AA, Grau C, O'Callaghan M, Fernández G, Alcántara S, Pineda M, Armstrong J, Altafaj X, García-Cazorla A. Oyarzabal A, et al. Int J Mol Sci. 2020 Jan 14;21(2):518. doi: 10.3390/ijms21020518. Int J Mol Sci. 2020. PMID: 31947619 Free PMC article.
Loss of CLTRN function produces a neuropsychiatric disorder and a biochemical phenotype that mimics Hartnup disease.
Pillai NR, Yubero D, Shayota BJ, Oyarzábal A, Ghosh R, Sun Q, Azamian MS, Arjona C, Brandi N, Palau F, Lalani SR, Artuch R, García-Cazorla A, Scott DA. Pillai NR, et al. Among authors: Oyarzabal A. Am J Med Genet A. 2019 Dec;179(12):2459-2468. doi: 10.1002/ajmg.a.61357. Epub 2019 Sep 13. Am J Med Genet A. 2019. PMID: 31520464
Expanding the genetic and phenotypic spectrum of branched-chain amino acid transferase 2 deficiency.
Knerr I, Colombo R, Urquhart J, Morais A, Merinero B, Oyarzabal A, Pérez B, Jones SA, Perveen R, Preece MA, Rogers Y, Treacy EP, Mayne P, Zampino G, MacKinnon S, Wassmer E, Yue WW, Robinson I, Rodríguez-Pombo P, Olpin SE, Banka S. Knerr I, et al. Among authors: Oyarzabal A. J Inherit Metab Dis. 2019 Sep;42(5):809-817. doi: 10.1002/jimd.12135. Epub 2019 Aug 1. J Inherit Metab Dis. 2019. PMID: 31177572
Altered Redox Homeostasis in Branched-Chain Amino Acid Disorders, Organic Acidurias, and Homocystinuria.
Richard E, Gallego-Villar L, Rivera-Barahona A, Oyarzábal A, Pérez B, Rodríguez-Pombo P, Desviat LR. Richard E, et al. Among authors: Oyarzabal A. Oxid Med Cell Longev. 2018 Mar 20;2018:1246069. doi: 10.1155/2018/1246069. eCollection 2018. Oxid Med Cell Longev. 2018. PMID: 29743968 Free PMC article. Review.
Ndufs4 related Leigh syndrome: A case report and review of the literature.
Ortigoza-Escobar JD, Oyarzabal A, Montero R, Artuch R, Jou C, Jiménez C, Gort L, Briones P, Muchart J, López-Gallardo E, Emperador S, Pesini ER, Montoya J, Pérez B, Rodríguez-Pombo P, Pérez-Dueñas B. Ortigoza-Escobar JD, et al. Among authors: Oyarzabal A. Mitochondrion. 2016 May;28:73-8. doi: 10.1016/j.mito.2016.04.001. Epub 2016 Apr 11. Mitochondrion. 2016. PMID: 27079373 Review.
Dataset reporting BCKDK interference in a BCAA-catabolism restricted environment.
Bravo-Alonso I, Oyarzabal A, Sánchez-Aragó M, Rejas MT, Merinero B, García-Cazorla A, Artuch R, Ugarte M, Rodríguez-Pombo P. Bravo-Alonso I, et al. Among authors: Oyarzabal A. Data Brief. 2016 Mar 15;7:755-9. doi: 10.1016/j.dib.2016.03.038. eCollection 2016 Jun. Data Brief. 2016. PMID: 27054191 Free PMC article.
Mitochondrial response to the BCKDK-deficiency: Some clues to understand the positive dietary response in this form of autism.
Oyarzabal A, Bravo-Alonso I, Sánchez-Aragó M, Rejas MT, Merinero B, García-Cazorla A, Artuch R, Ugarte M, Rodríguez-Pombo P. Oyarzabal A, et al. Biochim Biophys Acta. 2016 Apr;1862(4):592-600. doi: 10.1016/j.bbadis.2016.01.016. Epub 2016 Jan 22. Biochim Biophys Acta. 2016. PMID: 26809120 Free article.
Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome.
Ortigoza-Escobar JD, Molero-Luis M, Arias A, Oyarzabal A, Darín N, Serrano M, Garcia-Cazorla A, Tondo M, Hernández M, Garcia-Villoria J, Casado M, Gort L, Mayr JA, Rodríguez-Pombo P, Ribes A, Artuch R, Pérez-Dueñas B. Ortigoza-Escobar JD, et al. Among authors: Oyarzabal A. Brain. 2016 Jan;139(Pt 1):31-8. doi: 10.1093/brain/awv342. Epub 2015 Dec 10. Brain. 2016. PMID: 26657515 Clinical Trial.
23 results
Jump to page
Feedback