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5. Multiple variants in families with amyotrophic lateral sclerosis and frontotemporal dementia related to C9orf72 repeat expansion: further observations on their oligogenic nature. Giannoccaro MP; Bartoletti-Stella A; Piras S; Pession A; De Massis P; Oppi F; Stanzani-Maserati M; Pasini E; Baiardi S; Avoni P; Parchi P; Liguori R; Capellari S J Neurol; 2017 Jul; 264(7):1426-1433. PubMed ID: 28620717 [TBL] [Abstract][Full Text] [Related]
6. The frequency of the C9orf72 expansion in a Brazilian population. Cintra VP; Bonadia LC; Andrade HMT; de Albuquerque M; Eusébio MF; de Oliveira DS; Claudino R; Gonçalves MVM; Teixeira AL; de Godoy Rousseff Prado L; de Souza LC; Dourado MET; Oliveira ASB; Tumas V; França MC; Marques W Neurobiol Aging; 2018 Jun; 66():179.e1-179.e4. PubMed ID: 29449030 [TBL] [Abstract][Full Text] [Related]
7. Clinical features of TBK1 carriers compared with C9orf72, GRN and non-mutation carriers in a Belgian cohort. Van Mossevelde S; van der Zee J; Gijselinck I; Engelborghs S; Sieben A; Van Langenhove T; De Bleecker J; Baets J; Vandenbulcke M; Van Laere K; Ceyssens S; Van den Broeck M; Peeters K; Mattheijssens M; Cras P; Vandenberghe R; De Jonghe P; Martin JJ; De Deyn PP; Cruts M; Van Broeckhoven C; Brain; 2016 Feb; 139(Pt 2):452-67. PubMed ID: 26674655 [TBL] [Abstract][Full Text] [Related]
8. Presymptomatic grey matter alterations in ALS kindreds: a computational neuroimaging study of asymptomatic C9orf72 and SOD1 mutation carriers. Bede P; Lulé D; Müller HP; Tan EL; Dorst J; Ludolph AC; Kassubek J J Neurol; 2023 Sep; 270(9):4235-4247. PubMed ID: 37178170 [TBL] [Abstract][Full Text] [Related]
9. Relations between C9orf72 expansion size in blood, age at onset, age at collection and transmission across generations in patients and presymptomatic carriers. Fournier C; Barbier M; Camuzat A; Anquetil V; Lattante S; Clot F; Cazeneuve C; Rinaldi D; Couratier P; Deramecourt V; Sabatelli M; Belliard S; Vercelletto M; Forlani S; Jornea L; ; ; Leguern E; Brice A; Le Ber I Neurobiol Aging; 2019 Feb; 74():234.e1-234.e8. PubMed ID: 30337192 [TBL] [Abstract][Full Text] [Related]
10. Elevated methylation levels, reduced expression levels, and frequent contractions in a clinical cohort of C9orf72 expansion carriers. Jackson JL; Finch NA; Baker MC; Kachergus JM; DeJesus-Hernandez M; Pereira K; Christopher E; Prudencio M; Heckman MG; Thompson EA; Dickson DW; Shah J; Oskarsson B; Petrucelli L; Rademakers R; van Blitterswijk M Mol Neurodegener; 2020 Jan; 15(1):7. PubMed ID: 32000838 [TBL] [Abstract][Full Text] [Related]
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13. Basal parasympathetic deficits in C9orf72 hexanucleotide repeat expansion carriers relate to smaller frontoinsula and thalamus volume and lower empathy. R K Roy A; Noohi F; Morris NA; Ljubenkov P; Heuer H; Fong J; Hall M; Lario Lago A; Rankin KP; Miller BL; Boxer AL; Rosen HJ; Seeley WW; Perry DC; Yokoyama JS; Lee SE; Sturm VE Neuroimage Clin; 2024; 43():103649. PubMed ID: 39098187 [TBL] [Abstract][Full Text] [Related]
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15. Presymptomatic spinal cord pathology in c9orf72 mutation carriers: A longitudinal neuroimaging study. Querin G; Bede P; El Mendili MM; Li M; Pélégrini-Issac M; Rinaldi D; Catala M; Saracino D; Salachas F; Camuzat A; Marchand-Pauvert V; Cohen-Adad J; Colliot O; Le Ber I; Pradat PF; Ann Neurol; 2019 Aug; 86(2):158-167. PubMed ID: 31177556 [TBL] [Abstract][Full Text] [Related]
16. Frontotemporal dementia with amyotrophic lateral sclerosis: a clinical comparison of patients with and without repeat expansions in C9orf72. Snowden JS; Harris J; Richardson A; Rollinson S; Thompson JC; Neary D; Mann DM; Pickering-Brown S Amyotroph Lateral Scler Frontotemporal Degener; 2013 Apr; 14(3):172-6. PubMed ID: 23421625 [TBL] [Abstract][Full Text] [Related]
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19. No association of CpG SNP rs9357140 with onset age in Belgian C9orf72 repeat expansion carriers. Koçoğlu C; Gossye H; Dillen L; Van Mossevelde S; De Bleecker JL; Vandenberghe R; De Deyn PP; Sleegers K; Cras P; Engelborghs S; Van Broeckhoven C; van der Zee J; Neurobiol Aging; 2021 Jan; 97():145.e1-145.e4. PubMed ID: 32921502 [TBL] [Abstract][Full Text] [Related]
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