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3. Association between repeat sizes and clinical and pathological characteristics in carriers of C9ORF72 repeat expansions (Xpansize-72): a cross-sectional cohort study. van Blitterswijk M; DeJesus-Hernandez M; Niemantsverdriet E; Murray ME; Heckman MG; Diehl NN; Brown PH; Baker MC; Finch NA; Bauer PO; Serrano G; Beach TG; Josephs KA; Knopman DS; Petersen RC; Boeve BF; Graff-Radford NR; Boylan KB; Petrucelli L; Dickson DW; Rademakers R Lancet Neurol; 2013 Oct; 12(10):978-88. PubMed ID: 24011653 [TBL] [Abstract][Full Text] [Related]
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8. The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions. Simón-Sánchez J; Dopper EG; Cohn-Hokke PE; Hukema RK; Nicolaou N; Seelaar H; de Graaf JR; de Koning I; van Schoor NM; Deeg DJ; Smits M; Raaphorst J; van den Berg LH; Schelhaas HJ; De Die-Smulders CE; Majoor-Krakauer D; Rozemuller AJ; Willemsen R; Pijnenburg YA; Heutink P; van Swieten JC Brain; 2012 Mar; 135(Pt 3):723-35. PubMed ID: 22300876 [TBL] [Abstract][Full Text] [Related]
9. Reduced C9orf72 protein levels in frontal cortex of amyotrophic lateral sclerosis and frontotemporal degeneration brain with the C9ORF72 hexanucleotide repeat expansion. Waite AJ; Bäumer D; East S; Neal J; Morris HR; Ansorge O; Blake DJ Neurobiol Aging; 2014 Jul; 35(7):1779.e5-1779.e13. PubMed ID: 24559645 [TBL] [Abstract][Full Text] [Related]
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12. A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study. Gijselinck I; Van Langenhove T; van der Zee J; Sleegers K; Philtjens S; Kleinberger G; Janssens J; Bettens K; Van Cauwenberghe C; Pereson S; Engelborghs S; Sieben A; De Jonghe P; Vandenberghe R; Santens P; De Bleecker J; Maes G; Bäumer V; Dillen L; Joris G; Cuijt I; Corsmit E; Elinck E; Van Dongen J; Vermeulen S; Van den Broeck M; Vaerenberg C; Mattheijssens M; Peeters K; Robberecht W; Cras P; Martin JJ; De Deyn PP; Cruts M; Van Broeckhoven C Lancet Neurol; 2012 Jan; 11(1):54-65. PubMed ID: 22154785 [TBL] [Abstract][Full Text] [Related]
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17. Polymerase chain reaction and Southern blot-based analysis of the C9orf72 hexanucleotide repeat in different motor neuron diseases. Hübers A; Marroquin N; Schmoll B; Vielhaber S; Just M; Mayer B; Högel J; Dorst J; Mertens T; Just W; Aulitzky A; Wais V; Ludolph AC; Kubisch C; Weishaupt JH; Volk AE Neurobiol Aging; 2014 May; 35(5):1214.e1-6. PubMed ID: 24378086 [TBL] [Abstract][Full Text] [Related]
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19. von Economo Neuron Density and Thalamus Volumes in Behavioral Deficits in Frontotemporal Dementia Cases with and without a C9ORF72 Repeat Expansion. Yang Y; Halliday GM; Hodges JR; Tan RH J Alzheimers Dis; 2017; 58(3):701-709. PubMed ID: 28482638 [TBL] [Abstract][Full Text] [Related]
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