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

Year Number of Results
2003 1
2005 1
2006 2
2007 1
2008 2
2009 1
2011 3
2012 3
2013 3
2014 5
2015 4
2016 7
2017 6
2018 3
2019 4
2020 2
2021 1
2022 3
2023 1
2024 0

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44 results

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Page 1
UQCRC2-related mitochondrial complex III deficiency, about 7 patients.
Bansept C, Gaignard P, Lebigot E, Eyer D, Delplancq G, Hoebeke C, Mazodier K, Ledoyen A, Rouzier C, Fragaki K, Ait-El-Mkadem Saadi S, Philippe C, Bruel AL, Faivre L, Feillet F, Abi Warde MT. Bansept C, et al. Among authors: fragaki k. Mitochondrion. 2023 Jan;68:138-144. doi: 10.1016/j.mito.2022.12.001. Epub 2022 Dec 9. Mitochondrion. 2023. PMID: 36509339
Accumulation of amyloid precursor protein C-terminal fragments triggers mitochondrial structure, function, and mitophagy defects in Alzheimer's disease models and human brains.
Vaillant-Beuchot L, Mary A, Pardossi-Piquard R, Bourgeois A, Lauritzen I, Eysert F, Kinoshita PF, Cazareth J, Badot C, Fragaki K, Bussiere R, Martin C, Mary R, Bauer C, Pagnotta S, Paquis-Flucklinger V, Buée-Scherrer V, Buée L, Lacas-Gervais S, Checler F, Chami M. Vaillant-Beuchot L, et al. Among authors: fragaki k. Acta Neuropathol. 2021 Jan;141(1):39-65. doi: 10.1007/s00401-020-02234-7. Epub 2020 Oct 20. Acta Neuropathol. 2021. PMID: 33079262 Free PMC article.
Single-fiber studies for assigning pathogenicity of eight mitochondrial DNA variants associated with mitochondrial diseases.
Zereg E, Chaussenot A, Morel G, Bannwarth S, Sacconi S, Soriani MH, Attarian S, Cano A, Pouget J, Bellance R, Tranchant C, Lannes B, de Paula AM, Saadi Ait-El-Mkadem S, Chafino B, Berthet M, Fragaki K, Paquis-Flucklinger V, Rouzier C. Zereg E, et al. Among authors: fragaki k. Hum Mutat. 2020 Aug;41(8):1394-1406. doi: 10.1002/humu.24037. Epub 2020 Jun 12. Hum Mutat. 2020. PMID: 32419253
NDUFS6 related Leigh syndrome: a case report and review of the literature.
Rouzier C, Chaussenot A, Fragaki K, Serre V, Ait-El-Mkadem S, Richelme C, Paquis-Flucklinger V, Bannwarth S. Rouzier C, et al. Among authors: fragaki k. J Hum Genet. 2019 Jul;64(7):637-645. doi: 10.1038/s10038-019-0594-4. Epub 2019 Apr 4. J Hum Genet. 2019. PMID: 30948790 Review.
Mitochondrial defect in muscle precedes neuromuscular junction degeneration and motor neuron death in CHCHD10S59L/+ mouse.
Genin EC, Madji Hounoum B, Bannwarth S, Fragaki K, Lacas-Gervais S, Mauri-Crouzet A, Lespinasse F, Neveu J, Ropert B, Augé G, Cochaud C, Lefebvre-Omar C, Bigou S, Chiot A, Mochel F, Boillée S, Lobsiger CS, Bohl D, Ricci JE, Paquis-Flucklinger V. Genin EC, et al. Among authors: fragaki k. Acta Neuropathol. 2019 Jul;138(1):123-145. doi: 10.1007/s00401-019-01988-z. Epub 2019 Mar 14. Acta Neuropathol. 2019. PMID: 30874923
GAPDH Expression Predicts the Response to R-CHOP, the Tumor Metabolic Status, and the Response of DLBCL Patients to Metabolic Inhibitors.
Chiche J, Reverso-Meinietti J, Mouchotte A, Rubio-Patiño C, Mhaidly R, Villa E, Bossowski JP, Proics E, Grima-Reyes M, Paquet A, Fragaki K, Marchetti S, Briere J, Ambrosetti D, Michiels JF, Molina TJ, Copie-Bergman C, Lehmann-Che J, Peyrottes I, Peyrade F, de Kerviler E, Taillan B, Garnier G, Verhoeyen E, Paquis-Flucklinger V, Shintu L, Delwail V, Delpech-Debiais C, Delarue R, Bosly A, Petrella T, Brisou G, Nadel B, Barbry P, Mounier N, Thieblemont C, Ricci JE. Chiche J, et al. Among authors: fragaki k. Cell Metab. 2019 Jun 4;29(6):1243-1257.e10. doi: 10.1016/j.cmet.2019.02.002. Epub 2019 Feb 28. Cell Metab. 2019. PMID: 30827861 Free article.
44 results