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Page 1
Molecular pathology, developmental changes and synaptic dysfunction in (pre-) symptomatic human C9ORF72-ALS/FTD cerebral organoids.
van der Geest AT, Jakobs CE, Ljubikj T, Huffels CFM, Cañizares Luna M, Vieira de Sá R, Adolfs Y, de Wit M, Rutten DH, Kaal M, Zwartkruis MM, Carcolé M, Groen EJN, Hol EM, Basak O, Isaacs AM, Westeneng HJ, van den Berg LH, Veldink JH, Schlegel DK, Pasterkamp RJ. van der Geest AT, et al. Among authors: carcole m. Acta Neuropathol Commun. 2024 Sep 18;12(1):152. doi: 10.1186/s40478-024-01857-1. Acta Neuropathol Commun. 2024. PMID: 39289761 Free PMC article.
PolyGR and polyPR knock-in mice reveal a conserved neuroprotective extracellular matrix signature in C9orf72 ALS/FTD neurons.
Milioto C, Carcolé M, Giblin A, Coneys R, Attrebi O, Ahmed M, Harris SS, Lee BI, Yang M, Ellingford RA, Nirujogi RS, Biggs D, Salomonsson S, Zanovello M, de Oliveira P, Katona E, Glaria I, Mikheenko A, Geary B, Udine E, Vaizoglu D, Anoar S, Jotangiya K, Crowley G, Smeeth DM, Adams ML, Niccoli T, Rademakers R, van Blitterswijk M, Devoy A, Hong S, Partridge L, Coyne AN, Fratta P, Alessi DR, Davies B, Busche MA, Greensmith L, Fisher EMC, Isaacs AM. Milioto C, et al. Among authors: carcole m. Nat Neurosci. 2024 Apr;27(4):643-655. doi: 10.1038/s41593-024-01589-4. Epub 2024 Feb 29. Nat Neurosci. 2024. PMID: 38424324 Free PMC article.
C9orf72-ALS human iPSC microglia are pro-inflammatory and toxic to co-cultured motor neurons via MMP9.
Vahsen BF, Nalluru S, Morgan GR, Farrimond L, Carroll E, Xu Y, Cramb KML, Amein B, Scaber J, Katsikoudi A, Candalija A, Carcolé M, Dafinca R, Isaacs AM, Wade-Martins R, Gray E, Turner MR, Cowley SA, Talbot K. Vahsen BF, et al. Among authors: carcole m. Nat Commun. 2023 Sep 22;14(1):5898. doi: 10.1038/s41467-023-41603-0. Nat Commun. 2023. PMID: 37736756 Free PMC article.
Development of a sensitive trial-ready poly(GP) CSF biomarker assay for C9orf72-associated frontotemporal dementia and amyotrophic lateral sclerosis.
Wilson KM, Katona E, Glaria I, Carcolé M, Swift IJ, Sogorb-Esteve A, Heller C, Bouzigues A, Heslegrave AJ, Keshavan A, Knowles K, Patil S, Mohapatra S, Liu Y, Goyal J, Sanchez-Valle R, Laforce RJ, Synofzik M, Rowe JB, Finger E, Vandenberghe R, Butler CR, Gerhard A, Van Swieten JC, Seelaar H, Borroni B, Galimberti D, de Mendonça A, Masellis M, Tartaglia MC, Otto M, Graff C, Ducharme S, Schott JM, Malaspina A, Zetterberg H, Boyanapalli R, Rohrer JD, Isaacs AM; Genetic FTD Initiative (GENFI). Wilson KM, et al. Among authors: carcole m. J Neurol Neurosurg Psychiatry. 2022 Jul;93(7):761-771. doi: 10.1136/jnnp-2021-328710. Epub 2022 Apr 4. J Neurol Neurosurg Psychiatry. 2022. PMID: 35379698 Free PMC article.
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