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[Usefulness of combined sequencing of the mitochondrial genome and a targeted panel of nuclear genes involved in mitochondrial diseases].
Rucheton B, Ader F, Goudenege D, Filaut S, Legrand L, Bloch A, MitoDiag R, Fressart V, Bonnefont-Rousselot D, Mochel F, Lamari F, Richard P, Procaccio V, Bannwarth S. Rucheton B, et al. Ann Biol Clin (Paris). 2021 Feb 1;79(1):28-40. doi: 10.1684/abc.2021.1621. Ann Biol Clin (Paris). 2021. PMID: 33586649 Free article. French.
eKLIPse: a sensitive tool for the detection and quantification of mitochondrial DNA deletions from next-generation sequencing data.
Goudenège D, Bris C, Hoffmann V, Desquiret-Dumas V, Jardel C, Rucheton B, Bannwarth S, Paquis-Flucklinger V, Lebre AS, Colin E, Amati-Bonneau P, Bonneau D, Reynier P, Lenaers G, Procaccio V. Goudenège D, et al. Among authors: rucheton b. Genet Med. 2019 Jun;21(6):1407-1416. doi: 10.1038/s41436-018-0350-8. Epub 2018 Nov 5. Genet Med. 2019. PMID: 30393377 Free article.
Cerebrospinal fluid and blood biomarkers of status epilepticus.
Hanin A, Lambrecq V, Denis JA, Imbert-Bismut F, Rucheton B, Lamari F, Bonnefont-Rousselot D, Demeret S, Navarro V. Hanin A, et al. Among authors: rucheton b. Epilepsia. 2020 Jan;61(1):6-18. doi: 10.1111/epi.16405. Epub 2019 Dec 11. Epilepsia. 2020. PMID: 31828792 Free article. Review.
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. Mitochondrion. 2020 Nov;55:64-77. doi: 10.1016/j.mito.2020.08.004. Epub 2020 Aug 26. Mitochondrion. 2020. PMID: 32858252
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: rucheton b. 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.
Diagnostic approach in adult-onset neurometabolic diseases.
Fernández-Eulate G, Carreau C, Benoist JF, Lamari F, Rucheton B, Shor N, Nadjar Y. Fernández-Eulate G, et al. Among authors: rucheton b. J Neurol Neurosurg Psychiatry. 2022 Apr;93(4):413-421. doi: 10.1136/jnnp-2021-328045. Epub 2022 Feb 9. J Neurol Neurosurg Psychiatry. 2022. PMID: 35140137 Free PMC article. Review.
Clinico-biological markers for the prognosis of status epilepticus in adults.
Hanin A, Demeret S, Lambrecq V, Rohaut B, Marois C, Bouguerra M, Demoule A, Beaudeux JL, Bittar R, Denis JA, Imbert-Bismut F, Lamari F, Rucheton B, Bonnefont-Rousselot D, Chavez M, Navarro V. Hanin A, et al. Among authors: rucheton b. J Neurol. 2022 Nov;269(11):5868-5882. doi: 10.1007/s00415-022-11199-4. Epub 2022 Jun 29. J Neurol. 2022. PMID: 35768546
33 results