Majounie E, Renton AE, Mok K, Dopper EG, Waite A, Rollinson S, Chio A, Restagno G, Nicolaou N, Simon-Sanchez J, van Swieten JC, Abramzon Y, Johnson JO, Sendtner M, Pamphlett R, Orrell RW, Mead S, Sidle KC, Houlden H, Rohrer JD, Morrison KE, Pall H, Talbot K, Ansorge O, Consortium ITALSGEN, Hernandez DG, Arepalli S, Sabatelli M, Mora G, Corbo M, Giannini F, Calvo A, Englund E, Borghero G, Floris GL, Remes AM, Laaksovirta H, McCluskey L, Trojanowski JQ, Van Deerlin VM, Schellenberg GD, Nalls MA, Drory VE, Lu CS, Yeh TH, Ishiura H, Takahashi Y, Tsuji S, Le Ber I, Brice A, Drepper C, Williams N, Kirby J, Shaw P, Hardy J, Tienari PJ, Heutink P, Morris HR, Pickering-Brown S, Traynor BJ (2012) Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study. Lancet Neurol 2011:323–330

Google Scholar 

Laaksovirta H, Launes J, Jansson L, Traynor BJ, Kaivola K, Tienari PJ (2022) ALS in Finland: major genetic variants and clinical characteristics of patients with and without the C9orf72 hexanucleotide repeat expansion. Neurol Genetics 8(2):e665

Article  Google Scholar 

Kaivola K, Salmi SJ, Jansson L, Launes J, Hokkanen L, Niemi AK, Majamaa K, Lahti J, Eriksson JG, Strandberg T, Laaksovirta H (2020) Tienari PJ carriership of two copies of C9orf72 hexanucleotide repeat intermediate-length alleles is a risk factor for ALS in the finnish population. Acta Neuropathol Commun 8(1):187. https://doi.org/10.1186/s40478-020-01059-5

Article  CAS  PubMed  PubMed Central  Google Scholar 

de Boer SCM, Woolley L, Mol MO, Serpente M, Reus LM, van Minkelen R, van Vugt JFA, Sorrentino F, Veldink JH, Seelaar H, Galimberti D, van Ruissen F, Mead S, Rogaeva E, Pijnenburg YAL, van der Lee SJ. Letter to the editor on a paper by Kaivola et al (2020): carriership of two copies of C9orf72 hexanucleotide repeat intermediate-length alleles is not associated with amyotrophic lateral sclerosis or frontotemporal dementia. Acta Neuropathol Commun 10(1):141.https://doi.org/10.1186/s40478-022-01438-0

van der Zee J, Gijselinck I, Dillen L, Van Langenhove T, Theuns J, Engelborghs S, Philtjens S, Vandenbulcke M, Sleegers K, Sieben A, Baumer V, Maes G, Corsmit E, Borroni B, Padovani A, Archetti S, Perneczky R, Diehl-Schmid J, de Mendonca A, Miltenberger-Miltenyi G, Pereira S, Pimentel J, Nacmias B, Bagnoli S, Sorbi S, Graff C, Chiang HH, Westerlund M, Sanchez-Valle R, Llado A, Gelpi E, Santana I, Almeida MR, Santiago B, Frisoni G, Zanetti O, Bonvicini C, Synofzik M, Maetzler W, Vom Hagen JM, Schols L, Heneka MT, Jessen F, Matej R, Parobkova E, Kovacs GG, Strobel T, Sarafov S, Tournev I, Jordanova A, Danek A, Arzberger T, Fabrizi GM, Testi S, Salmon E, Santens P, Martin JJ, Cras P, Vandenberghe R, De Deyn PP, Cruts M, Van Broeckhoven C, van der Zee J, Gijselinck I, Dillen L, Van Langenhove T, Theuns J, Philtjens S, Sleegers K, Baumer V, Maes G, Corsmit E, Cruts M, Van Broeckhoven C, van der Zee J, Gijselinck I, Dillen L, Van Langenhove T, Philtjens S, Theuns J, Sleegers K, Baumer V, Maes G, Cruts M, Van Broeckhoven C, Engelborghs S, De Deyn PP, Cras P, Engelborghs S, De Deyn PP, Vandenbulcke M, Vandenbulcke M, Borroni B, Padovani A, Archetti S, Perneczky R, Diehl-Schmid J, Synofzik M, Maetzler W, Muller Vom Hagen J, Schols L, Synofzik M, Maetzler W, Muller Vom Hagen J, Schols L, Heneka MT, Jessen F, Ramirez A, Kurzwelly D, Sachtleben C, Mairer W, de Mendonca A, Miltenberger-Miltenyi G, Pereira S, Firmo C, Pimentel J, Sanchez-Valle R, Llado A, Antonell A, Molinuevo J, Gelpi E, Graff C, Chiang HH, Westerlund M, Graff C, Kinhult Stahlbom A, Thonberg H, Nennesmo I, Borjesson-Hanson A, Nacmias B, Bagnoli S, Sorbi S, Bessi V, Piaceri I, Santana I, Santiago B, Santana I, Helena Ribeiro M, Rosario Almeida M, Oliveira C, Massano J, Garret C, Pires P, Frisoni G, Zanetti O, Bonvicini C, Sarafov S, Tournev I, Jordanova A, Tournev I, Kovacs GG, Strobel T, Heneka MT, Jessen F, Ramirez A, Kurzwelly D, Sachtleben C, Mairer W, Jessen F, Matej R, Parobkova E, Danel A, Arzberger T, Maria Fabrizi G, Testi S, Ferrari S, Cavallaro T, Salmon E, Santens P, Cras P, European Early-Onset Dementia Consortium (2013). A pan-European study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability, and intermediate repeats. Hum Mutat. 34:363–373. https://doi.org/10.1002/humu.22244

Article  CAS  Google Scholar 

Gijselinck I, Van Mossevelde S, van der Zee J, Sieben A, Engelborghs S, De Bleecker J, Ivanoiu A, Deryck O, Edbauer D, Zhang M, Heeman B, Baumer V, Van den Broeck M, Mattheijssens M, Peeters K, Rogaeva E, De Jonghe P, Cras P, Martin JJ, de Deyn PP, Cruts M, Van Broeckhoven C (2016) The C9orf72 repeat size correlates with onset age of disease, DNA methylation and transcriptional downregulation of the promoter. Mol Psychiatry 21:1112–1124. https://doi.org/10.1038/mp.2015.159

Article  CAS  PubMed  Google Scholar 

Beck J, Poulter M, Hensman D, Rohrer JD, Mahoney CJ, Adamson G, Campbell T, Uphill J, Borg A, Fratta P, Orrell RW, Malaspina A, Rowe J, Brown J, Hodges J, Sidle K, Polke JM, Houlden H, Schott JM, Fox NC, Rossor MN, Tabrizi SJ, Isaacs AM, Hardy J, Warren JD, Collinge J, Mead S (2013) Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population. Am J Hum Genet 92:345–353. https://doi.org/10.1016/j.ajhg.2013.01.011

Article  CAS  PubMed  PubMed Central  Google Scholar 

Kaivola K, Kiviharju A, Jansson L, Rantalainen V, Eriksson JG, Strandberg TE, Laaksovirta H, Renton AE, Traynor BJ, Myllykangas L, Tienari PJ (2019) C9orf72 hexanucleotide repeat length in older population: normal variation and effects on cognition. Neurobiol Aging 84:242e7–242e12. https://doi.org/10.1016/j.neurobiolaging.2019.02.026

Thys RG, Wang YH (2015) DNA replication dynamics of the GGGGCC repeat of the C9orf72 gene. J Biol Chem 290(48):28953–28962

Article  CAS  PubMed  PubMed Central  Google Scholar 

Rostalski H, Korhonen V, Kuulasmaa T, Solje E, Krüger J, Gen F, Kaivola K, Eide PK, Lambert JC, Julkunen V, Tienari PJ, Remes AM, Leinonen V, Hiltunen M, Haapasalo A (2021) A novel genetic marker for the C9orf72 repeat expansion in the finnish population. J Alzheimers Dis 83(3):1325–1332. https://doi.org/10.3233/JAD-210599

Article  CAS  PubMed  Google Scholar