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

Year Number of Results
2002 3
2004 1
2005 5
2007 2
2008 1
2009 3
2010 3
2011 2
2012 4
2013 7
2014 5
2015 4
2016 6
2017 6
2018 7
2019 5
2020 3
2021 2
2022 1
2023 1
2024 0

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57 results

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Page 1
[Pathophysiology of human mitochondrial diseases].
Lombès A, Auré K, Jardel C. Lombès A, et al. Among authors: jardel c. Biol Aujourdhui. 2015;209(2):125-32. doi: 10.1051/jbio/2015014. Epub 2015 Oct 29. Biol Aujourdhui. 2015. PMID: 26514381 Review. French.
Unsolved issues related to human mitochondrial diseases.
Lombès A, Auré K, Bellanné-Chantelot C, Gilleron M, Jardel C. Lombès A, et al. Among authors: jardel c. Biochimie. 2014 May;100:171-6. doi: 10.1016/j.biochi.2013.08.012. Epub 2013 Aug 20. Biochimie. 2014. PMID: 23973280 Free article. Review.
Expanding and Underscoring the Hepato-Encephalopathic Phenotype of QIL1/MIC13.
Russell BE, Whaley KG, Bove KE, Labilloy A, Lombardo RC, Hopkin RJ, Leslie ND, Prada C, Assouline Z, Barcia G, Bouchereau J, Chomton M, Debray D, Dorboz I, Durand P, Gaignard P, Habes D, Jardel C, Labarthe F, Lévy J, Lombès A, Mehler-Jacob C, Melki J, Menvielle L, Munnich A, Mussini C, Pichard S, Rio M, Rötig A, Sissaoui S, Slama A, Miethke AG, Schiff M. Russell BE, et al. Among authors: jardel c. Hepatology. 2019 Sep;70(3):1066-1070. doi: 10.1002/hep.30627. Epub 2019 May 16. Hepatology. 2019. PMID: 30912852 Review. No abstract available.
Homoplasmic deleterious MT-ATP6/8 mutations in adult patients.
Rucheton B, Jardel C, Filaut S, Amador MDM, Maisonobe T, Serre I, Romero NB, Leonard-Louis S, Haraux F, Lombès A. Rucheton B, et al. Among authors: jardel c. Mitochondrion. 2020 Nov;55:64-77. doi: 10.1016/j.mito.2020.08.004. Epub 2020 Aug 26. Mitochondrion. 2020. PMID: 32858252
Targeted versus untargeted omics - the CAFSA story.
Del Mar Amador M, Colsch B, Lamari F, Jardel C, Ichou F, Rastetter A, Sedel F, Jourdan F, Frainay C, Wevers RA, Roze E, Depienne C, Junot C, Mochel F. Del Mar Amador M, et al. Among authors: jardel c. J Inherit Metab Dis. 2018 May;41(3):447-456. doi: 10.1007/s10545-017-0134-3. Epub 2018 Feb 8. J Inherit Metab Dis. 2018. PMID: 29423831
Genetic diagnosis of Mendelian disorders via RNA sequencing.
Kremer LS, Bader DM, Mertes C, Kopajtich R, Pichler G, Iuso A, Haack TB, Graf E, Schwarzmayr T, Terrile C, Koňaříková E, Repp B, Kastenmüller G, Adamski J, Lichtner P, Leonhardt C, Funalot B, Donati A, Tiranti V, Lombes A, Jardel C, Gläser D, Taylor RW, Ghezzi D, Mayr JA, Rötig A, Freisinger P, Distelmaier F, Strom TM, Meitinger T, Gagneur J, Prokisch H. Kremer LS, et al. Among authors: jardel c. Nat Commun. 2017 Jun 12;8:15824. doi: 10.1038/ncomms15824. Nat Commun. 2017. PMID: 28604674 Free PMC article.
Improved detection of mitochondrial DNA instability in mitochondrial genome maintenance disorders.
Bris C, Goudenège D, Desquiret-Dumas V, Gueguen N, Bannwarth S, Gaignard P, Rucheton B, Trimouille A, Allouche S, Rouzier C, Saadi S, Jardel C, Slama A, Barth M, Verny C, Spinazzi M, Cassereau J, Colin E, Armelle M, Pereon Y, Martin-Negrier ML, Paquis-Flucklinger V, Letournel F, Lenaers G, Bonneau D, Reynier P, Amati-Bonneau P, Procaccio V. Bris C, et al. Among authors: jardel c. Genet Med. 2021 Sep;23(9):1769-1778. doi: 10.1038/s41436-021-01206-w. Epub 2021 May 26. Genet Med. 2021. PMID: 34040194 Free article.
Chitotriosidase as biomarker for early stage amyotrophic lateral sclerosis: a multicenter study.
Steinacker P, Feneberg E, Halbgebauer S, Witzel S, Verde F, Oeckl P, Van Damme P, Gaur N, Gray E, Grosskreutz J, Jardel CG, Kachanov M, Kuhle J, Lamari F, Maceski A, Del Mar Amador M, Mayer B, Morelli C, Petri S, Poesen K, Raaphorst J, Salachas F, Silani V, Turner MR, Verbeek MM, Volk AE, Weishaupt JH, Weydt P, Ludolph AC, Otto M. Steinacker P, et al. Among authors: jardel cg. Amyotroph Lateral Scler Frontotemporal Degener. 2021 May;22(3-4):276-286. doi: 10.1080/21678421.2020.1861023. Epub 2021 Feb 12. Amyotroph Lateral Scler Frontotemporal Degener. 2021. PMID: 33576252
57 results