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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2010 2
2011 2
2012 3
2013 2
2014 2
2015 5
2016 7
2017 8
2018 4
2019 5
2020 1
2021 3
2022 3
2023 1
2024 0

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44 results

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Page 1
Metabolic Myoglobinuria.
Barca E, Emmanuele V, DiMauro SB. Barca E, et al. Curr Neurol Neurosci Rep. 2015 Oct;15(10):69. doi: 10.1007/s11910-015-0590-9. Curr Neurol Neurosci Rep. 2015. PMID: 26319173 Review.
Update on diagnostics of metabolic myopathies.
Toscano A, Barca E, Musumeci O. Toscano A, et al. Among authors: barca e. Curr Opin Neurol. 2017 Oct;30(5):553-562. doi: 10.1097/WCO.0000000000000483. Curr Opin Neurol. 2017. PMID: 28763305 Review.
Regulatory environment for novel therapeutic development in mitochondrial diseases.
Hirano M, Berardo A, Barca E, Emmanuele V, Quinzii C, Simpson CV, Engelstad K, Rosales XQ, Thompson JLP. Hirano M, et al. Among authors: barca e. J Inherit Metab Dis. 2021 Mar;44(2):292-300. doi: 10.1002/jimd.12353. Epub 2021 Jan 4. J Inherit Metab Dis. 2021. PMID: 33368420 Free PMC article. Review.
Time to harmonize mitochondrial syndrome nomenclature and classification: A consensus from the North American Mitochondrial Disease Consortium (NAMDC).
Emmanuele V, Ganesh J, Vladutiu G, Haas R, Kerr D, Saneto RP, Cohen BH, Van Hove JLK, Scaglia F, Hoppel C, Rosales XQ, Barca E, Buchsbaum R, Thompson JL, DiMauro S, Hirano M; North American Mitochondrial Disease Consortium (NAMDC). Emmanuele V, et al. Among authors: barca e. Mol Genet Metab. 2022 Jun;136(2):125-131. doi: 10.1016/j.ymgme.2022.05.001. Epub 2022 May 13. Mol Genet Metab. 2022. PMID: 35606253 Free PMC article. Review.
Dystonia-Ataxia with early handwriting deterioration in COQ8A mutation carriers: A case series and literature review.
Galosi S, Barca E, Carrozzo R, Schirinzi T, Quinzii CM, Lieto M, Vasco G, Zanni G, Di Nottia M, Galatolo D, Filla A, Bertini E, Santorelli FM, Leuzzi V, Haas R, Hirano M, Friedman J. Galosi S, et al. Among authors: barca e. Parkinsonism Relat Disord. 2019 Nov;68:8-16. doi: 10.1016/j.parkreldis.2019.09.015. Epub 2019 Sep 28. Parkinsonism Relat Disord. 2019. PMID: 31621627 Review.
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: barca e. 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.
Macrophage derived TNFα promotes hepatic reprogramming to Warburg-like metabolism.
Tarasenko TN, Jestin M, Matsumoto S, Saito K, Hwang S, Gavrilova O, Trivedi N, Zerfas PM, Barca E, DiMauro S, Senac J, Venditti CP, Cherukuri M, McGuire PJ. Tarasenko TN, et al. Among authors: barca e. J Mol Med (Berl). 2019 Sep;97(9):1231-1243. doi: 10.1007/s00109-019-01786-w. Epub 2019 May 3. J Mol Med (Berl). 2019. PMID: 31053970 Free PMC article.
Muscle imaging findings in GNE myopathy.
Tasca G, Ricci E, Monforte M, Laschena F, Ottaviani P, Rodolico C, Barca E, Silvestri G, Iannaccone E, Mirabella M, Broccolini A. Tasca G, et al. Among authors: barca e. J Neurol. 2012 Jul;259(7):1358-65. doi: 10.1007/s00415-011-6357-6. Epub 2012 Jan 10. J Neurol. 2012. PMID: 22231866
Coenzyme Q deficiency causes impairment of the sulfide oxidation pathway.
Ziosi M, Di Meo I, Kleiner G, Gao XH, Barca E, Sanchez-Quintero MJ, Tadesse S, Jiang H, Qiao C, Rodenburg RJ, Scalais E, Schuelke M, Willard B, Hatzoglou M, Tiranti V, Quinzii CM. Ziosi M, et al. Among authors: barca e. EMBO Mol Med. 2017 Jan;9(1):96-111. doi: 10.15252/emmm.201606356. EMBO Mol Med. 2017. PMID: 27856618 Free PMC article.
44 results