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TUBG1 missense variants underlying cortical malformations disrupt neuronal locomotion and microtubule dynamics but not neurogenesis.
Ivanova EL, Gilet JG, Sulimenko V, Duchon A, Rudolf G, Runge K, Collins SC, Asselin L, Broix L, Drouot N, Tilly P, Nusbaum P, Vincent A, Magnant W, Skory V, Birling MC, Pavlovic G, Godin JD, Yalcin B, Hérault Y, Dráber P, Chelly J, Hinckelmann MV. Ivanova EL, et al. Among authors: nusbaum p. Nat Commun. 2019 May 13;10(1):2129. doi: 10.1038/s41467-019-10081-8. Nat Commun. 2019. PMID: 31086189 Free PMC article.
Dp412e: a novel human embryonic dystrophin isoform induced by BMP4 in early differentiated cells.
Massouridès E, Polentes J, Mangeot PE, Mournetas V, Nectoux J, Deburgrave N, Nusbaum P, Leturcq F, Popplewell L, Dickson G, Wein N, Flanigan KM, Peschanski M, Chelly J, Pinset C. Massouridès E, et al. Among authors: nusbaum p. Skelet Muscle. 2015 Nov 14;5:40. doi: 10.1186/s13395-015-0062-6. eCollection 2015. Skelet Muscle. 2015. PMID: 26568816 Free PMC article.
Myogenic Progenitor Cells Exhibit Type I Interferon-Driven Proangiogenic Properties and Molecular Signature During Juvenile Dermatomyositis.
Gitiaux C, Latroche C, Weiss-Gayet M, Rodero MP, Duffy D, Bader-Meunier B, Glorion C, Nusbaum P, Bodemer C, Mouchiroud G, Chelly J, Germain S, Desguerre I, Chazaud B. Gitiaux C, et al. Among authors: nusbaum p. Arthritis Rheumatol. 2018 Jan;70(1):134-145. doi: 10.1002/art.40328. Epub 2017 Nov 28. Arthritis Rheumatol. 2018. PMID: 28941175
Inhibition of IFNα secretion in cells from patients with juvenile dermatomyositis under TBK1 inhibitor treatment revealed by single-molecular assay technology.
Gitiaux C, Bondet V, Bekaddour N, Nusbaum P, Hubas A, Melki I, Bodemer C, Quartier P, Desguerre I, Crow YJ, Herbeuval JP, Duffy D, Bader Meunier B, Rodero MP. Gitiaux C, et al. Among authors: nusbaum p. Rheumatology (Oxford). 2020 May 1;59(5):1171-1174. doi: 10.1093/rheumatology/kez508. Rheumatology (Oxford). 2020. PMID: 31665500 Free article. No abstract available.
Inhibition of IFNα secretion in cells from patients with juvenile dermatomyositis under TBK1 inhibitor treatment revealed by single-molecular assay technology.
Gitiaux C, Bondet V, Bekaddour N, Nusbaum P, Hubas A, Melki I, Bodemer C, Quartier P, Desguerre I, Crow YJ, Herbeuval JP, Duffy D, Bader Meunier B, Rodero MP. Gitiaux C, et al. Among authors: nusbaum p. Rheumatology (Oxford). 2020 May 1;59(5):1191. doi: 10.1093/rheumatology/kez687. Rheumatology (Oxford). 2020. PMID: 31971592 No abstract available.
FDX2 and ISCU Gene Variations Lead to Rhabdomyolysis With Distinct Severity and Iron Regulation.
Montealegre S, Lebigot E, Debruge H, Romero N, Héron B, Gaignard P, Legendre A, Imbard A, Gobin S, Lacène E, Nusbaum P, Hubas A, Desguerre I, Servais A, Laforêt P, van Endert P, Authier FJ, Gitiaux C, de Lonlay P. Montealegre S, et al. Among authors: nusbaum p. Neurol Genet. 2022 Jan 19;8(1):e648. doi: 10.1212/NXG.0000000000000648. eCollection 2022 Feb. Neurol Genet. 2022. PMID: 35079622 Free PMC article.
Compromised mitochondrial quality control triggers lipin1-related rhabdomyolysis.
Hamel Y, Mauvais FX, Madrange M, Renard P, Lebreton C, Nemazanyy I, Pellé O, Goudin N, Tang X, Rodero MP, Tuchmann-Durand C, Nusbaum P, Brindley DN, van Endert P, de Lonlay P. Hamel Y, et al. Among authors: nusbaum p. Cell Rep Med. 2021 Aug 17;2(8):100370. doi: 10.1016/j.xcrm.2021.100370. eCollection 2021 Aug 17. Cell Rep Med. 2021. PMID: 34467247 Free PMC article.
39 results