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Page 1
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
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
Novel UBQLN2 mutations linked to amyotrophic lateral sclerosis and atypical hereditary spastic paraplegia phenotype through defective HSP70-mediated proteolysis.
Teyssou E, Chartier L, Amador MD, Lam R, Lautrette G, Nicol M, Machat S, Da Barroca S, Moigneu C, Mairey M, Larmonier T, Saker S, Dussert C, Forlani S, Fontaine B, Seilhean D, Bohl D, Boillée S, Meininger V, Couratier P, Salachas F, Stevanin G, Millecamps S. Teyssou E, et al. Among authors: bohl d. Neurobiol Aging. 2017 Oct;58:239.e11-239.e20. doi: 10.1016/j.neurobiolaging.2017.06.018. Epub 2017 Jun 24. Neurobiol Aging. 2017. PMID: 28716533 Free article.
HDAC6 inhibition reverses axonal transport defects in motor neurons derived from FUS-ALS patients.
Guo W, Naujock M, Fumagalli L, Vandoorne T, Baatsen P, Boon R, Ordovás L, Patel A, Welters M, Vanwelden T, Geens N, Tricot T, Benoy V, Steyaert J, Lefebvre-Omar C, Boesmans W, Jarpe M, Sterneckert J, Wegner F, Petri S, Bohl D, Vanden Berghe P, Robberecht W, Van Damme P, Verfaillie C, Van Den Bosch L. Guo W, et al. Among authors: bohl d. Nat Commun. 2017 Oct 11;8(1):861. doi: 10.1038/s41467-017-00911-y. Nat Commun. 2017. PMID: 29021520 Free PMC article.
Impact of a frequent nearsplice SOD1 variant in amyotrophic lateral sclerosis: optimising SOD1 genetic screening for gene therapy opportunities.
Muratet F, Teyssou E, Chiot A, Boillée S, Lobsiger CS, Bohl D, Gyorgy B, Guegan J, Marie Y, Amador MDM, Salachas F, Meininger V, Bernard E, Antoine JC, Camdessanché JP, Camu W, Cazeneuve C, Fauret-Amsellem AL, Leguern E, Mouzat K, Guissart C, Lumbroso S, Corcia P, Vourc'h P, Grapperon AM, Attarian S, Verschueren A, Seilhean D, Millecamps S. Muratet F, et al. Among authors: bohl d. J Neurol Neurosurg Psychiatry. 2021 Sep;92(9):942-949. doi: 10.1136/jnnp-2020-325921. Epub 2021 Mar 30. J Neurol Neurosurg Psychiatry. 2021. PMID: 33785574
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.
349 results