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Patterns and severity of vascular amyloid in Alzheimer's disease associated with duplications and missense mutations in APP gene, Down syndrome and sporadic Alzheimer's disease.
Mann DMA, Davidson YS, Robinson AC, Allen N, Hashimoto T, Richardson A, Jones M, Snowden JS, Pendleton N, Potier MC, Laquerrière A, Prasher V, Iwatsubo T, Strydom A. Mann DMA, et al. Among authors: laquerriere a. Acta Neuropathol. 2018 Oct;136(4):569-587. doi: 10.1007/s00401-018-1866-3. Epub 2018 May 16. Acta Neuropathol. 2018. PMID: 29770843 Free PMC article.
The lipid phosphatase Synaptojanin 1 undergoes a significant alteration in expression and solubility and is associated with brain lesions in Alzheimer's disease.
Ando K, Ndjim M, Turbant S, Fontaine G, Pregoni G, Dauphinot L, Yilmaz Z, Suain V, Mansour S, Authelet M, De Dekker R, Leroy K, Delatour B; Brain Bank NeuroCEB Neuropathology Network; Duyckaerts C, Potier MC, Brion JP. Ando K, et al. Acta Neuropathol Commun. 2020 Jun 3;8(1):79. doi: 10.1186/s40478-020-00954-1. Acta Neuropathol Commun. 2020. PMID: 32493451 Free PMC article.
Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer's disease.
Nicolas G, Acuña-Hidalgo R, Keogh MJ, Quenez O, Steehouwer M, Lelieveld S, Rousseau S, Richard AC, Oud MS, Marguet F, Laquerrière A, Morris CM, Attems J, Smith C, Ansorge O, Al Sarraj S, Frebourg T, Campion D, Hannequin D, Wallon D, Gilissen C, Chinnery PF, Veltman JA, Hoischen A. Nicolas G, et al. Among authors: laquerriere a. Alzheimers Dement. 2018 Dec;14(12):1632-1639. doi: 10.1016/j.jalz.2018.06.3056. Epub 2018 Aug 13. Alzheimers Dement. 2018. PMID: 30114415 Free PMC article.
A postzygotic de novo NCDN mutation identified in a sporadic FTLD patient results in neurochondrin haploinsufficiency and altered FUS granule dynamics.
Nicolas G, Sévigny M, Lecoquierre F, Marguet F, Deschênes A, Del Pelaez MC, Feuillette S, Audebrand A, Lecourtois M, Rousseau S, Richard AC, Cassinari K, Deramecourt V, Duyckaerts C, Boland A, Deleuze JF, Meyer V, Clarimon Echavarria J, Gelpi E, Akiyama H, Hasegawa M, Kawakami I, Wong TH, Van Rooij JGJ, Van Swieten JC, Campion D, Dutchak PA, Wallon D, Lavoie-Cardinal F, Laquerrière A, Rovelet-Lecrux A, Sephton CF. Nicolas G, et al. Among authors: laquerriere a. Acta Neuropathol Commun. 2022 Feb 12;10(1):20. doi: 10.1186/s40478-022-01314-x. Acta Neuropathol Commun. 2022. PMID: 35151370 Free PMC article.
260 results