REFERENCES
1. Urso D, Giannoni-Luza S, Brayne C, Ray N, Logroscino G. Incidence and prevalence of frontotemporal dementia: a systematic review and meta-analysis. JAMA Neurol. 2025;82:1144.
2. Chu M, Wu L, Liu L, et al. Clinical, genetic, and pathological features of very early onset frontotemporal lobe degeneration: a systematic review. Curr Alzheimer Res. 2023;19:870-7.
3. Van Langenhove T, Van Der Zee J, Van Broeckhoven C. The molecular basis of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum. Ann Med. 2012;44:817-28.
4. Mackenzie IRA, Munoz DG, Kusaka H, et al. Distinct pathological subtypes of FTLD-FUS. Acta Neuropathol. 2010;121:207-18.
5. De Coster W, Van Den Broeck M, Baker M, et al. A repeat expansion in GOLGA8A is a major risk factor for atypical frontotemporal lobar degeneration with ubiquitin-positive inclusions. Nat Genet. 2026;58:726-36.
6. Rademakers R, Neumann M, Mackenzie IR. Advances in understanding the molecular basis of frontotemporal dementia. Nat Rev Neurol. 2012;8:423-34.
7. Kovacs G. Molecular pathological classification of neurodegenerative diseases: turning towards precision medicine. Int J Mol Sci. 2016;17:189.
8. Rajan-Babu I, Dolzhenko E, Eberle MA, Friedman JM. Sequence composition changes in short tandem repeats: heterogeneity, detection, mechanisms and clinical implications. Nat Rev Genet. 2024;25:476-99.
9. Malik I, Kelley CP, Wang ET, Todd PK. Molecular mechanisms underlying nucleotide repeat expansion disorders. Nat Rev Mol Cell Biol. 2021;22:589-607.
10. Gendron TF, Petrucelli L. Disease mechanisms of C9ORF72 repeat expansions. Cold Spring Harb Perspect Med. 2018;8:a024224.
11. Boivin M, Deng J, Pfister V, et al. Translation of GGC repeat expansions into a toxic polyglycine protein in NIID defines a novel class of human genetic disorders: the polyG diseases. Neuron. 2021;109:1825-35.e5.
12. Mackenzie IR, Neumann M. FET proteins in frontotemporal dementia and amyotrophic lateral sclerosis. Brain Res. 2012;1462:40-3.
13. Carey JL, Guo L. Liquid-liquid phase separation of TDP-43 and FUS in physiology and pathology of neurodegenerative diseases. Front Mol Biosci. 2022;9:826719.
14. Antonacci F, Dennis MY, Huddleston J, et al. Palindromic GOLGA8 core duplicons promote chromosome 15q13.3 microdeletion and evolutionary instability. Nat Genet. 2014;46:1293-302.
15. Mcdonnell EI, Wang Y, Goldman J, Marder K. Age of onset of huntington's disease in carriers of reduced penetrance alleles. Mov Disord. 2021;36:2958-61.
16. Kampmann M. Molecular and cellular mechanisms of selective vulnerability in neurodegenerative diseases. Nat Rev Neurosci. 2024;25:351-71.
17. Shepherd R, Cheung AS, Pang K, Saffery R, Novakovic B. Sexual dimorphism in innate immunity: the role of sex hormones and epigenetics. Front Immunol. 2021;11:604000.
18. Vegeto E, Villa A, Della Torre S, et al. The role of sex and sex hormones in neurodegenerative diseases. Endocr Rev. 2020;41:273-319.
19. Hampel H, Gao P, Cummings J, et al. The foundation and architecture of precision medicine in neurology and psychiatry. Trends Neurosci. 2023;46:176-98.
20. Gall-Duncan T, Sato N, Yuen RK, Pearson CE. Advancing genomic technologies and clinical awareness accelerates discovery of disease-associated tandem repeat sequences. Genome Res. 2022;32:1-27.
21. Zhou Z, Jankovic J, Ashizawa T, Tan E. Neurodegenerative diseases associated with non-coding CGG tandem repeat expansions. Nat Rev Neurol. 2022;18:145-57.
22. Trigiante G, Blanes Ruiz N, Cerase A. Emerging roles of repetitive and repeat-containing RNA in nuclear and chromatin organization and gene expression. Front Cell Dev Biol. 2021;9:735527.
23. Zhang Y, Liu X, Li Z, et al. Advances on the mechanisms and therapeutic strategies in non-coding CGG repeat expansion diseases. Mol Neurobiol. 2024;61:10722-35.
24. Hammond SM, Aartsma-Rus A, Alves S, et al. Delivery of oligonucleotide-based therapeutics: challenges and opportunities. EMBO Mol Med. 2021;13:e13243.
25. Tanudisastro HA, Deveson IW, Dashnow H, Macarthur DG. Sequencing and characterizing short tandem repeats in the human genome. Nat Rev Genet. 2024;25:460-75.





