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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
[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.
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.
Novel Phenotypes and Cardiac Involvement Associated With DNA2 Genetic Variants.
González-Del Angel A, Bisciglia M, Vargas-Cañas S, Fernandez-Valverde F, Kazakova E, Escobar RE, Romero NB, Jardel C, Rucheton B, Stojkovic T, Malfatti E. González-Del Angel A, et al. Among authors: rucheton b. Front Neurol. 2019 Oct 4;10:1049. doi: 10.3389/fneur.2019.01049. eCollection 2019. Front Neurol. 2019. PMID: 31636600 Free PMC article.
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
Highly asymmetrical distribution of muscle wasting correlates to the heteroplasmy in a patient carrying a large-scale mitochondrial DNA deletion: a novel pathophysiological mechanism for explaining asymmetry in mitochondrial myopathies.
Masingue M, Rucheton B, Bris C, Romero NB, Procaccio V, Eymard B. Masingue M, et al. Among authors: rucheton b. Neuromuscul Disord. 2022 Dec;32(11-12):923-930. doi: 10.1016/j.nmd.2022.10.006. Epub 2022 Oct 27. Neuromuscul Disord. 2022. PMID: 36428163
The missense p.Trp7Arg mutation in GRN gene leads to progranulin haploinsufficiency.
Saracino D, Sellami L, Clot F, Camuzat A, Lamari F, Rucheton B, Benyounes I, Roué-Jagot C, Lagarde J, Sarazin M, Jornea L, Forlani S, LeGuern E, Dubois B, Brice A, Le Ber I. Saracino D, et al. Among authors: rucheton b. Neurobiol Aging. 2020 Jan;85:154.e9-154.e11. doi: 10.1016/j.neurobiolaging.2019.06.002. Epub 2019 Jun 10. Neurobiol Aging. 2020. PMID: 31262553
34 results