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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. Among authors: mochel f. 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.
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: mochel f. 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
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: mochel f. Acta Neuropathol. 2019 Jul;138(1):123-145. doi: 10.1007/s00401-019-01988-z. Epub 2019 Mar 14. Acta Neuropathol. 2019. PMID: 30874923
200 results