The C9orf72 repeat size correlates with onset age of disease, DNA methylation and transcriptional downregulation of the promoter
on behalf of the BELNEU CONSORTIUM, Gijselinck, I, Van Mossevelde, S, van der Zee, J, Sieben, A, Engelborghs, S, De Bleecker, J, Ivanoiu, A +15 more·2016·Molecular Psychiatry
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- C9orf72 Gene Expression in Frontotemporal Dementia and Amyotrophic Lateral SclerosisYu. A. Shpilyukova, E. Yu. Fedotova, Natalia Yu. Abramycheva, Ivan A. Kochergin, Закройщикова Инесса Владимировна, Mariya N. Zakharova, Sergey Nikolaevich Illarioshkin · 2020 · Bulletin of Experimental Biology and Medicine
- CRISPR/Cas9 does not facilitate stable expression of long C9orf72 dipeptides in miceSarah Ryan, Eleanor Hobbs, Sara J. Rollinson, Stuart M. Pickering-Brown · 2019 · Neurobiology of Aging
- No association of CpG SNP rs9357140 with onset age in Belgian C9orf72 repeat expansion carriersCemile Koçoğlu, Helena Gossye, Lubina Dillen, Sara Van Mossevelde, Jan De Bleecker, Rik R. Vandenberghe, Peter P. De Deyn, Kristel Sleegers, Patrick P Cras, Sebastiaan Engelborghs et al. · 2020 · Neurobiology of Aging
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- From molecular convergence to clinical divergence: Comparative pathogenic mechanisms and therapeutic trajectories in C9orf72-ALS/FTD and myotonic dystrophyClaudia Alberti, Valeria Parente, Stefania Paola Corti, Valeria Sansone · 2025 · Neurobiology of Disease
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- Basal parasympathetic deficits in C9orf72 hexanucleotide repeat expansion carriers relate to smaller frontoinsula and thalamus volume and lower empathyAshlin R. K. Roy, Fate Noohi, Nathaniel Morris, Peter Alexander Ljubenkov, Hilary W. Heuer, Jamie C Fong, Matthew Hall, Argentina Lario Lago, Katherine P. Rankin, Bruce L. Miller et al. · 2024 · NeuroImage Clinical
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