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
DOI 10.1038/mp.2015.159

Cited by (244)

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  3. Zebrafish C9orf72 loss-of-function models of Amyotrophic Lateral Sclerosis and Frontotemporal Dementia
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  4. Altered DNA methylation profiles in blood from patients with sporadic Creutzfeldt-Jakob disease
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  12. CLIP-Seq Analysis Enables the Design of Ribosomal RNA Bait Oligonucleotides That Protect Against C9ORF72 ALS/FTD-Associated Poly-GR Pathophysiology
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  13. C9ORF72 deficiency results in degeneration of the zebrafish retina in vivo
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  14. C9orf72 expansion creates the unstable folate-sensitive fragile site FRA9A
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  15. Estimating the size of long tandem repeat expansions from short reads with ScatTR
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  16. C9orf72 expansions disrupt ATM-mediated DNA repair
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  17. ‘Non-self’ mutation in a Drosophila model of expanded CAG repeat neurodegenerative disease
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  18. Apathy and Impulsivity in Frontotemporal Lobar Degeneration
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  19. Repeat sizes of NOP56 gene in a Japanese Asidan (SCA36) family with clinical anticipation
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  20. Unraveling molecular biology of C9ORF72 repeat expansions in amyotrophic lateral sclerosis-frontotemporal dementia: Implications for therapy
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  21. A Multi-omics Data Resource for Frontotemporal Dementia Research
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  22. Susceptibility Genes and Epigenetics in Sporadic ALS
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  23. Effect of G 4 C 2 Repeat Expansions on the Motion of Lysosomes Inside Neurites
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  24. Linkage of proteasomal impairment and autophagy activation by C9orf72 poly-GA aggregate formation
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  25. Linkage of proteasomal impairment and autophagy activation by C9orf72 poly-GA aggregate formation
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  26. C9ORF72 repeat expansion is not associated with atypical parkinsonism in the Serbian population
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  27. Analysis of normal C9orf72 repeat length as possible disease modifier in amyotrophic lateral sclerosis
    Silvia Peverelli, Alberto Brusati, Valeria Casiraghi, Marta Nice Sorce, Sabrina Invernizzi, Serena Santangelo, Claudia Morelli, Federico Verde, Vincenzo Silani, Nicola Ticozzi et al. · 2023 · Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
  28. Additional file 3 of DeepRepeat: direct quantification of short tandem repeats on signal data from nanopore sequencing
    Fang Li, Qian Liu, Alex Mas, Pedro Gonzalez‐Alegre, Beverly L. Davidson, Kai Wang · 2022 · Figshare
  29. Additional file 2 of DeepRepeat: direct quantification of short tandem repeats on signal data from nanopore sequencing
    Fang Li, Qian Liu, Alex Mas, Pedro Gonzalez‐Alegre, Beverly L. Davidson, Kai Wang · 2022 · Figshare
  30. C9orf72 ALS-causing mutations lead to nucleoporin Nup107 aggregation and subsequent pathological changes
    Saygın Bilican, Yara Nabawi, William Hongyu Zhang, David Vı́lchez · 2025 · bioRxiv (Cold Spring Harbor Laboratory)
  31. ScatTR: Estimating the Size of Long Tandem Repeat Expansions from Short-Reads
    Rashid Al-Abri, Gamze Gürsoy · 2025 · Lecture notes in computer science
  32. Genetics of Frontotemporal Dementia: an updated overview
    Mustafa A Ghanim, Mohammad Abuawad, Malik Alqub, Majdi Dwikat, Samar Alkhaldi, Doaa Rabaya · 2024 · Palestinian medical and pharmaceutical journal/Palestinian medical & pharmaceutical journal
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  34. Additional file 1 of Carriership of two copies of C9orf72 hexanucleotide repeat intermediate-length alleles is a risk factor for ALS in the Finnish population
    Karri Kaivola, Samuli J. Salmi, Lilja Jansson, Jyrki Launes, Hokkanen, Laura, Anna‐Kaisa Niemi, Kari Majamaa, Lahti, Jari, Eriksson, Johan G., Strandberg, Timo et al. · 2020 · Figshare
  35. Additional file 4 of DeepRepeat: direct quantification of short tandem repeats on signal data from nanopore sequencing
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  36. Additional file 1 of DeepRepeat: direct quantification of short tandem repeats on signal data from nanopore sequencing
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  37. Additional file 1 of Combined epigenetic/genetic study identified an ALS age of onset modifier
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  38. Wild-type C9orf72 expression is a genetic modifier of C9-ALS survival
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  39. Effect of G 4 C 2 repeat expansions on the motion of lysosomes inside neurites
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  40. Rôle du muscle squelettique dans la Sclérose Latérale Amyotrophique : apport de modèles transgéniques conditionnels
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  41. Caractérisations biochimiques des protéines à répétitions de dipeptides et de leurs assemblages
    Laurent Brasseur · 2019 · theses.fr (ABES)
  42. The spectrum of C9orf72 repeat lengths in Portuguese frontotemporal dementia and amyotrophic lateral sclerosis patients: from pathogenic expansions to intermediate alleles
    Maria Rosário Almeida, Miguel Tábuas‐Pereira, Anabela Matos, Ana Santos, Carolina Teixeira, Inês Baldeiras, Marisa Lima, Isabel J. Santana · 2026 · Frontiers in Neuroscience
  43. Association between C9orf72 G4C2 repeat length and idiopathic Parkinson’s disease in a Turkish cohort
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  44. Plasma Proteomic Signatures Predict Incident Amyotrophic Lateral Sclerosis: A Prospective Study Stratified by C9orf72 Expansion
    Wei‐Ming Su, Qing‐Qing Duan, Nan Zhang, Sheng‐Yi He, Ru‐Yin Liu, Xi Wen, Xiao‐Jing Gu, Yi Wang, Bei Cao, Yongping Chen · 2026 · Journal of Cachexia Sarcopenia and Muscle