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Integration of multi-omics layers empowers precision diagnosis through unveiling pathogenic mechanisms on maple syrup urine disease.
Tejedor JR, Soriano-Sexto A, Beccari L, Castejón-Fernández N, Correcher P, Sainz-Ledo L, Alba-Linares JJ, Urdinguio RG, Ugarte M, Fernández AF, Rodríguez-Pombo P, Fraga MF, Pérez B. Tejedor JR, et al. Among authors: ugarte m. J Inherit Metab Dis. 2025 Jan;48(1):e12829. doi: 10.1002/jimd.12829. Epub 2024 Dec 10. J Inherit Metab Dis. 2025. PMID: 39659154 Free PMC article.
The UK clinical eye research strategy: refreshing research priorities for clinical eye research in the UK.
Bourne RRA, Moledina M, Azuara-Blanco A, Saleh GM, Self JE, Sivaprasad S, Sharma SM, Ross A, Gilbert RM, Abdalla Elsayed MEA, Moon WY, Doug M, Mulholland PJ, Day AC, Romano V, Hoad GV, Kara M, Murray A, Gow L, Ghanchi F, Patel PJ, Gale RP, Dinah C, Valentine K, Yelf C, Poustie V; NIHR Ophthalmology Specialty Group; Executive Group of UK Clinical Eye Research Strategy. Bourne RRA, et al. Eye (Lond). 2024 Jul;38(10):1947-1957. doi: 10.1038/s41433-024-03049-6. Epub 2024 May 29. Eye (Lond). 2024. PMID: 38806699 Free PMC article.
Small area variations in non-affective first-episode psychosis: the role of socioeconomic and environmental factors.
Gutiérrez G, Goicoa T, Ugarte MD, Aranguren L, Corrales A, Gil-Berrozpe G, Librero J, Sánchez-Torres AM, Peralta V, García de Jalon E, Cuesta MJ; PEPsNa group; Martínez M, Otero M, Azcarate L, Pereda N, Monclús F, Moreno L, Fernández A, Ariz MC, Sabaté A, Aquerreta A, Aguirre I, Lizarbe T, Begué MJ. Gutiérrez G, et al. Among authors: ugarte md. Eur Arch Psychiatry Clin Neurosci. 2024 Sep;274(6):1497-1506. doi: 10.1007/s00406-023-01665-z. Epub 2023 Aug 23. Eur Arch Psychiatry Clin Neurosci. 2024. PMID: 37612449
Big problems in spatio-temporal disease mapping: Methods and software.
Orozco-Acosta E, Adin A, Ugarte MD. Orozco-Acosta E, et al. Among authors: ugarte md. Comput Methods Programs Biomed. 2023 Apr;231:107403. doi: 10.1016/j.cmpb.2023.107403. Epub 2023 Feb 3. Comput Methods Programs Biomed. 2023. PMID: 36773590 Free article.
Pathogenic variants of the coenzyme A biosynthesis-associated enzyme phosphopantothenoylcysteine decarboxylase cause autosomal-recessive dilated cardiomyopathy.
Bravo-Alonso I, Morin M, Arribas-Carreira L, Álvarez M, Pedrón-Giner C, Soletto L, Santolaria C, Ramón-Maiques S, Ugarte M, Rodríguez-Pombo P, Ariño J, Moreno-Pelayo MÁ, Pérez B. Bravo-Alonso I, et al. Among authors: ugarte m. J Inherit Metab Dis. 2023 Mar;46(2):261-272. doi: 10.1002/jimd.12584. Epub 2023 Jan 2. J Inherit Metab Dis. 2023. PMID: 36564894
360 results