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New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Pilliod J, Moutton S, Lavie J, Maurat E, Hubert C, Bellance N, Anheim M, Forlani S, Mochel F, N'Guyen K, Thauvin-Robinet C, Verny C, Milea D, Lesca G, Koenig M, Rodriguez D, Houcinat N, Van-Gils J, Durand CM, Guichet A, Barth M, Bonneau D, Convers P, Maillart E, Guyant-Marechal L, Hannequin D, Fromager G, Afenjar A, Chantot-Bastaraud S, Valence S, Charles P, Berquin P, Rooryck C, Bouron J, Brice A, Lacombe D, Rossignol R, Stevanin G, Benard G, Burglen L, Durr A, Goizet C, Coupry I. Pilliod J, et al. Among authors: rossignol r. Ann Neurol. 2015 Dec;78(6):871-86. doi: 10.1002/ana.24509. Epub 2015 Nov 14. Ann Neurol. 2015. PMID: 26288984
REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction.
Goizet C, Depienne C, Benard G, Boukhris A, Mundwiller E, Solé G, Coupry I, Pilliod J, Martin-Négrier ML, Fedirko E, Forlani S, Cazeneuve C, Hannequin D, Charles P, Feki I, Pinel JF, Ouvrard-Hernandez AM, Lyonnet S, Ollagnon-Roman E, Yaouanq J, Toutain A, Dussert C, Fontaine B, Leguern E, Lacombe D, Durr A, Rossignol R, Brice A, Stevanin G. Goizet C, et al. Among authors: rossignol r. Hum Mutat. 2011 Oct;32(10):1118-27. doi: 10.1002/humu.21542. Epub 2011 Sep 9. Hum Mutat. 2011. PMID: 21618648
High glucose repatterns human podocyte energy metabolism during differentiation and diabetic nephropathy.
Imasawa T, Obre E, Bellance N, Lavie J, Imasawa T, Rigothier C, Delmas Y, Combe C, Lacombe D, Benard G, Claverol S, Bonneu M, Rossignol R. Imasawa T, et al. Among authors: rossignol r. FASEB J. 2017 Jan;31(1):294-307. doi: 10.1096/fj.201600293R. Epub 2016 Oct 17. FASEB J. 2017. PMID: 27825100 Free PMC article.
., Combe, C., Lacombe, D., Benard, G., Claverol, S., Bonneu, M., Rossignol, R. High glucose repatterns human podocyte energy metabolism during differentiation and diabetic nephropathy....
., Combe, C., Lacombe, D., Benard, G., Claverol, S., Bonneu, M., Rossignol, R. High glucose repatterns human podocyte energy m …
Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia.
Tesson C, Nawara M, Salih MA, Rossignol R, Zaki MS, Al Balwi M, Schule R, Mignot C, Obre E, Bouhouche A, Santorelli FM, Durand CM, Oteyza AC, El-Hachimi KH, Al Drees A, Bouslam N, Lamari F, Elmalik SA, Kabiraj MM, Seidahmed MZ, Esteves T, Gaussen M, Monin ML, Gyapay G, Lechner D, Gonzalez M, Depienne C, Mochel F, Lavie J, Schols L, Lacombe D, Yahyaoui M, Al Abdulkareem I, Zuchner S, Yamashita A, Benomar A, Goizet C, Durr A, Gleeson JG, Darios F, Brice A, Stevanin G. Tesson C, et al. Among authors: rossignol r. Am J Hum Genet. 2012 Dec 7;91(6):1051-64. doi: 10.1016/j.ajhg.2012.11.001. Epub 2012 Nov 21. Am J Hum Genet. 2012. PMID: 23176821 Free PMC article.
RAS signalling in energy metabolism and rare human diseases.
Dard L, Bellance N, Lacombe D, Rossignol R. Dard L, et al. Among authors: rossignol r. Biochim Biophys Acta Bioenerg. 2018 Sep;1859(9):845-867. doi: 10.1016/j.bbabio.2018.05.003. Epub 2018 May 8. Biochim Biophys Acta Bioenerg. 2018. PMID: 29750912 Free article. Review.
Adaptative capacity of mitochondrial biogenesis and of mitochondrial dynamics in response to pathogenic respiratory chain dysfunction.
Benard G, Trian T, Bellance N, Berger P, Lavie J, Espil-Taris C, Rocher C, Eimer-Bouillot S, Goizet C, Nouette-Gaulain K, Letellier T, Lacombe D, Rossignol R. Benard G, et al. Among authors: rossignol r. Antioxid Redox Signal. 2013 Aug 1;19(4):350-65. doi: 10.1089/ars.2011.4244. Epub 2012 Apr 19. Antioxid Redox Signal. 2013. PMID: 22369111
130 results