PubMed for id: 897127

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[Investigation of Genetic Etiology in Neurodegenerative Dementias: Recommendations from the Centro Hospitalar São João Neurogenetics Group].

Massano J, Leão M, Garrett C; Grupo de Neurogenética do Centro Hospitalar São João. Massano J, et al. Acta Med Port. 2016 Oct;29(10):675-679. doi: 10.20344/amp.7583. Epub 2016 Oct 31. Acta Med Port. 2016. PMID: 28103467 Free article. Portuguese.

EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias.

Burgunder JM, Finsterer J, Szolnoki Z, Fontaine B, Baets J, Van Broeckhoven C, Di Donato S, De Jonghe P, Lynch T, Mariotti C, Schöls L, Spinazzola A, Tabrizi SJ, Tallaksen C, Zeviani M, Harbo HF, Gasser T; EFNS. Burgunder JM, et al. Eur J Neurol. 2010 May;17(5):641-8. doi: 10.1111/j.1468-1331.2010.02985.x. Epub 2010 Mar 9. Eur J Neurol. 2010. PMID: 20298421

G₂C₄ targeting antisense oligonucleotides potently mitigate TDP-43 dysfunction in human C9orf72 ALS/FTD induced pluripotent stem cell derived neurons.

Rothstein JD, Baskerville V, Rapuri S, Mehlhop E, Jafar-Nejad P, Rigo F, Bennett F, Mizielinska S, Isaacs A, Coyne AN. Rothstein JD, et al. Acta Neuropathol. 2023 Nov 29;147(1):1. doi: 10.1007/s00401-023-02652-3. Acta Neuropathol. 2023. PMID: 38019311

Navigating the ALS Genetic Labyrinth: The Role of MAPT Haplotypes.

Tourtourikov I, Dabchev K, Todorov T, Angelov T, Chamova T, Tournev I, Kadiyska T, Mitev V, Todorova A. Tourtourikov I, et al. Genes (Basel). 2023 Oct 30;14(11):2023. doi: 10.3390/genes14112023. Genes (Basel). 2023. PMID: 38002967 Free PMC article.

Mitochondria, a Key Target in Amyotrophic Lateral Sclerosis Pathogenesis.

Genin EC, Abou-Ali M, Paquis-Flucklinger V. Genin EC, et al. Genes (Basel). 2023 Oct 24;14(11):1981. doi: 10.3390/genes14111981. Genes (Basel). 2023. PMID: 38002924 Free PMC article. Review.

ALS/FTD-associated mutation in cyclin F inhibits ER-Golgi trafficking, inducing ER stress, ERAD and Golgi fragmentation.

Ragagnin AMG, Sundaramoorthy V, Farzana F, Gautam S, Saravanabavan S, Takalloo Z, Mehta P, Do-Ha D, Parakh S, Shadfar S, Hunter J, Vidal M, Jagaraj CJ, Brocardo M, Konopka A, Yang S, Rayner SL, Williams KL, Blair IP, Chung RS, Lee A, Ooi L, Atkin JD. Ragagnin AMG, et al. Sci Rep. 2023 Nov 22;13(1):20467. doi: 10.1038/s41598-023-46802-9. Sci Rep. 2023. PMID: 37993492 Free PMC article.

Neuronal dysfunction caused by FUSR521G promotes ALS-associated phenotypes that are attenuated by NF-κB inhibition.

Pelaez MC, Desmeules A, Gelon PA, Glasson B, Marcadet L, Rodgers A, Phaneuf D, Pozzi S, Dutchak PA, Julien JP, Sephton CF. Pelaez MC, et al. Acta Neuropathol Commun. 2023 Nov 16;11(1):182. doi: 10.1186/s40478-023-01671-1. Acta Neuropathol Commun. 2023. PMID: 37974279 Free PMC article.

Multi-modal proteomic characterization of lysosomal function and proteostasis in progranulin-deficient neurons.

Hasan S, Fernandopulle MS, Humble SW, Frankenfield AM, Li H, Prestil R, Johnson KR, Ryan BJ, Wade-Martins R, Ward ME, Hao L. Hasan S, et al. Mol Neurodegener. 2023 Nov 16;18(1):87. doi: 10.1186/s13024-023-00673-w. Mol Neurodegener. 2023. PMID: 37974165 Free PMC article.

Altered plasma protein profiles in genetic FTD - a GENFI study.

Ullgren A, Öijerstedt L, Olofsson J, Bergström S, Remnestål J, van Swieten JC, Jiskoot LC, Seelaar H, Borroni B, Sanchez-Valle R, Moreno F, Laforce R, Synofzik M, Galimberti D, Rowe JB, Masellis M, Tartaglia MC, Finger E, Vandenberghe R, de Mendonça A, Tirabosch P, Santana I, Ducharme S, Butler CR, Gerhard A, Otto M, Bouzigues A, Russell L, Swift IJ, Sogorb-Esteve A, Heller C, Rohrer JD, Månberg A, Nilsson P, Graff C; Genetic Frontotemporal Dementia Initiative (GENFI). Ullgren A, et al. Mol Neurodegener. 2023 Nov 15;18(1):85. doi: 10.1186/s13024-023-00677-6. Mol Neurodegener. 2023. PMID: 37968725 Free PMC article.

Targeting Progranulin as an Immuno-Neurology Therapeutic Approach.

Boylan MA, Pincetic A, Romano G, Tatton N, Kenkare-Mitra S, Rosenthal A. Boylan MA, et al. Int J Mol Sci. 2023 Nov 3;24(21):15946. doi: 10.3390/ijms242115946. Int J Mol Sci. 2023. PMID: 37958929 Free PMC article. Review.

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