PubMed for id: 462042

Year	Number of Results
2010	1
2016	1
2022	216
2023	330
2024	1

1

OPTN variants in ALS cases: a case report of a novel mutation and literature review.

Mou Y, Li M, Liu M, Wang J, Zhu G, Zha Y. Mou Y, et al. Neurol Sci. 2022 Sep;43(9):5391-5396. doi: 10.1007/s10072-022-06125-5. Neurol Sci. 2022. PMID: 35661277 Review.

2

[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.

3

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

4

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.

5

Heterogeneity of cortical pTDP-43 inclusion morphologies in amyotrophic lateral sclerosis.

Tan RH, McCann H, Shepherd CE, Pinkerton M, Mazumder S, Devenney EM, Adler GL, Rowe DB, Kril J, Halliday GM, Kiernan MC. Tan RH, et al. Acta Neuropathol Commun. 2023 Nov 13;11(1):180. doi: 10.1186/s40478-023-01670-2. Acta Neuropathol Commun. 2023. PMID: 37957721 Free PMC article.

6

CLIP-Seq analysis enables the design of protective ribosomal RNA bait oligonucleotides against C9ORF72 ALS/FTD poly-GR pathophysiology.

Ortega JA, Sasselli IR, Boccitto M, Fleming AC, Fortuna TR, Li Y, Sato K, Clemons TD, Mckenna ED, Nguyen TP, Anderson EN, Asin J, Ichida JK, Pandey UB, Wolin SL, Stupp SI, Kiskinis E. Ortega JA, et al. Sci Adv. 2023 Nov 10;9(45):eadf7997. doi: 10.1126/sciadv.adf7997. Epub 2023 Nov 10. Sci Adv. 2023. PMID: 37948524 Free PMC article.

7

An analysis of variants in TARDBP in the Korean population with amyotrophic lateral sclerosis: comparison with previous data.

Sung W, Kim JA, Kim YS, Park J, Oh KW, Sung JJ, Ki CS, Kim YE, Kim SH. Sung W, et al. Sci Rep. 2023 Nov 1;13(1):18805. doi: 10.1038/s41598-023-45593-3. Sci Rep. 2023. PMID: 37914747 Free PMC article.

8

GRN Missense Variants and Familial Alzheimer's Disease: Two Case Reports.

Ingannato A, Bessi V, Chiari A, Salvatori D, Bagnoli S, Bedin R, Ferrari C, Sorbi S, Nacmias B. Ingannato A, et al. J Alzheimers Dis. 2023;96(2):767-775. doi: 10.3233/JAD-230689. J Alzheimers Dis. 2023. PMID: 37899057

9

Interaction of the C9orf72-Amyotrophic Lateral Sclerosis-Related Proline-Arginine Dipeptide Repeat Protein with the RNA-Binding Protein NOVA1 Causes Decreased Expression of UNC13A Due to Enhanced Inclusion of Cryptic Exons, Which Is Reversed by Betulin Treatment.

Fu RH, Chen HJ, Hong SY. Fu RH, et al. Cells. 2023 Oct 18;12(20):2476. doi: 10.3390/cells12202476. Cells. 2023. PMID: 37887320 Free PMC article.

10

lncRNA Sequencing Reveals Neurodegeneration-Associated FUS Mutations Alter Transcriptional Landscape of iPS Cells That Persists in Motor Neurons.

Provasek VE, Kodavati M, Guo W, Wang H, Boldogh I, Van Den Bosch L, Britz G, Hegde ML. Provasek VE, et al. Cells. 2023 Oct 16;12(20):2461. doi: 10.3390/cells12202461. Cells. 2023. PMID: 37887305 Free PMC article.

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