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The endoplasmic reticulum-mitochondria interface is perturbed in PARK2 knockout mice and patients with PARK2 mutations.
Gautier CA, Erpapazoglou Z, Mouton-Liger F, Muriel MP, Cormier F, Bigou S, Duffaure S, Girard M, Foret B, Iannielli A, Broccoli V, Dalle C, Bohl D, Michel PP, Corvol JC, Brice A, Corti O. Gautier CA, et al. Among authors: bohl d. Hum Mol Genet. 2016 Jul 15;25(14):2972-2984. doi: 10.1093/hmg/ddw148. Epub 2016 May 19. Hum Mol Genet. 2016. PMID: 27206984
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: bohl d. Acta Neuropathol. 2019 Jul;138(1):123-145. doi: 10.1007/s00401-019-01988-z. Epub 2019 Mar 14. Acta Neuropathol. 2019. PMID: 30874923
Neurofilament accumulations in amyotrophic lateral sclerosis patients' motor neurons impair axonal initial segment integrity.
Lefebvre-Omar C, Liu E, Dalle C, d'Incamps BL, Bigou S, Daube C, Karpf L, Davenne M, Robil N, Jost Mousseau C, Blanchard S, Tournaire G, Nicaise C, Salachas F, Lacomblez L, Seilhean D, Lobsiger CS, Millecamps S, Boillée S, Bohl D. Lefebvre-Omar C, et al. Among authors: bohl d. Cell Mol Life Sci. 2023 May 15;80(6):150. doi: 10.1007/s00018-023-04797-6. Cell Mol Life Sci. 2023. PMID: 37184603 Free PMC article.
A conserved NR5A1-responsive enhancer regulates SRY in testis-determination.
Houzelstein D, Eozenou C, Lagos CF, Elzaiat M, Bignon-Topalovic J, Gonzalez I, Laville V, Schlick L, Wankanit S, Madon P, Kirtane J, Athalye A, Buonocore F, Bigou S, Conway GS, Bohl D, Achermann JC, Bashamboo A, McElreavey K. Houzelstein D, et al. Among authors: bohl d. Nat Commun. 2024 Mar 30;15(1):2796. doi: 10.1038/s41467-024-47162-2. Nat Commun. 2024. PMID: 38555298 Free PMC article.
Human polymorphisms in nicotinic receptors: a functional analysis in iPS-derived dopaminergic neurons.
Deflorio C, Blanchard S, Carisì MC, Bohl D, Maskos U. Deflorio C, et al. Among authors: bohl d. FASEB J. 2017 Feb;31(2):828-839. doi: 10.1096/fj.201600932R. Epub 2016 Nov 17. FASEB J. 2017. PMID: 27856558
-Deflorio, C., Blanchard, S., Carisi, M. C., Bohl, D., Maskos, U. Human polymorphisms in nicotinic receptors: a functional analysis in iPS-derived dopaminergic neurons....
-Deflorio, C., Blanchard, S., Carisi, M. C., Bohl, D., Maskos, U. Human polymorphisms in nicotinic receptors: a functional ana …
349 results