Loos MA - Search Results

1

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. Among authors: loos ma. 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

2

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. Among authors: loos ma. 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

3

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. 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.

4

Molecular diagnosis of epileptic encephalopathy of the first year of life applying a customized gene panel in a group of Argentinean patients.

Juanes M, Veneruzzo G, Loos M, Reyes G, Araoz HV, Garcia FM, Gomez G, Alonso CN, Chertkoff LP, Caraballo R. Juanes M, et al. Epilepsy Behav. 2020 Oct;111:107322. doi: 10.1016/j.yebeh.2020.107322. Epub 2020 Jul 20. Epilepsy Behav. 2020. PMID: 32702657

5

[Acute encephalitis anti-ionotropic glutamate receptor activated N-methyl-D-aspartate (NMDAR): analysis of eleven pediatric cases in Argentina (Benito Yelín Award)].

Pérez E, Ruggieri V, Monges S, Loos M, Caraballo R, Yerga A, Rugilo C, Vincent A, Arroyo HA. Pérez E, et al. Medicina (B Aires). 2013;73 Suppl 1:1-9. Medicina (B Aires). 2013. PMID: 24072045 Free article. Spanish.

6

Late-onset childhood neuronal ceroid lipofuscinosis: Early clinical and electroencephalographic markers.

Beltrán L, Valenzuela GR, Loos M, Vargas R, Lizama R, Spinsanti P, Caraballo R. Beltrán L, et al. Epilepsy Res. 2018 Aug;144:49-52. doi: 10.1016/j.eplepsyres.2018.05.005. Epub 2018 May 16. Epilepsy Res. 2018. PMID: 29778029

7

Retrospective natural history of thymidine kinase 2 deficiency.

Garone C, Taylor RW, Nascimento A, Poulton J, Fratter C, Domínguez-González C, Evans JC, Loos M, Isohanni P, Suomalainen A, Ram D, Hughes MI, McFarland R, Barca E, Lopez Gomez C, Jayawant S, Thomas ND, Manzur AY, Kleinsteuber K, Martin MA, Kerr T, Gorman GS, Sommerville EW, Chinnery PF, Hofer M, Karch C, Ralph J, Cámara Y, Madruga-Garrido M, Domínguez-Carral J, Ortez C, Emperador S, Montoya J, Chakrapani A, Kriger JF, Schoenaker R, Levin B, Thompson JLP, Long Y, Rahman S, Donati MA, DiMauro S, Hirano M. Garone C, et al. Among authors: loos m. J Med Genet. 2018 Aug;55(8):515-521. doi: 10.1136/jmedgenet-2017-105012. Epub 2018 Mar 30. J Med Genet. 2018. PMID: 29602790 Free PMC article.

8

Glucose transporter type 1 deficiency syndrome: clinical aspects, diagnosis, and treatment.

Veneruzzo GM, Loos MA, Armeno M, Alonso CN, Caraballo RH. Veneruzzo GM, et al. Among authors: loos ma. Arch Argent Pediatr. 2023 Feb 1;121(1):e202202677. doi: 10.5546/aap.2022-02677.eng. Epub 2022 Nov 3. Arch Argent Pediatr. 2023. PMID: 36315575 Free article. Review. English, Spanish.

9

De novo absence status epilepticus associated with the SLC6A1 gene in a pediatric patient.

Caraballo RH, Chacón S, Touzon MS, Loos M, Juanes M. Caraballo RH, et al. Epileptic Disord. 2024 Apr;26(2):233-235. doi: 10.1002/epd2.20175. Epub 2023 Nov 6. Epileptic Disord. 2024. PMID: 37877664 No abstract available.

10

Clinical and genetic study of developmental and epileptic encephalopathy in Argentinean pediatric patients.

Juanes M, Loos M, Reyes G, Veneruzzo G, García FM, Aschettino G, Calligaris S, Martín ME, Foncuberta ME, Alonso CN, Caraballo RH. Juanes M, et al. Medicina (B Aires). 2022;82(6):856-865. Medicina (B Aires). 2022. PMID: 36571524 Free article. English.

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