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Page 1
PURA-Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum.
Neurol Genet. 2021 Nov 15;7(6):e613. doi: 10.1212/NXG.0000000000000613. eCollection 2021 Dec.
Neurol Genet. 2021.
PMID: 34790866
Free PMC article.
Mitochondrial DNA deletions detected by Multiplex Ligation-dependent Probe Amplification.
Mayorga L, Laurito SR, Loos MA, Eiroa HD, de Pinho S, Lubieniecki F, Arroyo HA, Pereyra MF, Kauffman MA, Roqué M.
Mayorga L, et al.
Mitochondrial DNA A DNA Mapp Seq Anal. 2016 Jul;27(4):2864-7. doi: 10.3109/19401736.2015.1053132. Epub 2015 Jun 26.
Mitochondrial DNA A DNA Mapp Seq Anal. 2016.
PMID: 26114318
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Mitochondrial stress triggers a pro-survival response through epigenetic modifications of nuclear DNA.
Mayorga L, Salassa BN, Marzese DM, Loos MA, Eiroa HD, Lubieniecki F, García Samartino C, Romano PS, Roqué M.
Mayorga L, et al.
Cell Mol Life Sci. 2019 Apr;76(7):1397-1417. doi: 10.1007/s00018-019-03008-5. Epub 2019 Jan 23.
Cell Mol Life Sci. 2019.
PMID: 30673822
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Clinical and molecular characterization of mitochondrial DNA disorders in a group of Argentinian pediatric patients.
Loos MA, Gomez G, Mayorga L, Caraballo RH, Eiroa HD, Obregon MG, Rugilo C, Lubieniecki F, Taratuto AL, Saccoliti M, Alonso CN, Aráoz HV.
Loos MA, et al. Among authors: mayorga l.
Mol Genet Metab Rep. 2021 Feb 25;27:100733. doi: 10.1016/j.ymgmr.2021.100733. eCollection 2021 Jun.
Mol Genet Metab Rep. 2021.
PMID: 33717984
Free PMC article.
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A modelling study highlights the power of detecting and isolating asymptomatic or very mildly affected individuals for COVID-19 epidemic management.
Mayorga L, García Samartino C, Flores G, Masuelli S, Sánchez MV, Mayorga LS, Sánchez CG.
Mayorga L, et al.
BMC Public Health. 2020 Nov 27;20(1):1809. doi: 10.1186/s12889-020-09843-7.
BMC Public Health. 2020.
PMID: 33246432
Free PMC article.
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A frame-shift deletion in the PURA gene associates with a new clinical finding: Hypoglycorrhachia. Is GLUT1 a new PURA target?
Mayorga L, Gamboni B, Mampel A, Roqué M.
Mayorga L, et al.
Mol Genet Metab. 2018 Mar;123(3):331-336. doi: 10.1016/j.ymgme.2017.12.436. Epub 2018 Jan 2.
Mol Genet Metab. 2018.
PMID: 29307761
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