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5. Radiogenomics of C9orf72 Expansion Carriers Reveals Global Transposable Element Derepression and Enables Prediction of Thalamic Atrophy and Clinical Impairment. Bonham LW, Geier EG, Sirkis DW, Leong JK, Ramos EM, Wang Q, Karydas A, Lee SE, Sturm VE, Sawyer RP, Friedberg A, Ichida JK, Gitler AD, Sugrue L, Cordingley M, Bee W, Weber E, Kramer JH, Rankin KP, Rosen HJ, Boxer AL, Seeley WW, Ravits J, Miller BL, Yokoyama JS. J Neurosci; 2023 Jan 11; 43(2):333-345. PubMed ID: 36446586 [Abstract] [Full Text] [Related]
6. Frontotemporal dementia associated with the C9ORF72 mutation: a unique clinical profile. Devenney E, Hornberger M, Irish M, Mioshi E, Burrell J, Tan R, Kiernan MC, Hodges JR. JAMA Neurol; 2014 Mar 11; 71(3):331-9. PubMed ID: 24445580 [Abstract] [Full Text] [Related]
7. Characterization of a family with c9FTD/ALS associated with the GGGGCC repeat expansion in C9ORF72. Savica R, Adeli A, Vemuri P, Knopman DS, Dejesus-Hernandez M, Rademakers R, Fields JA, Whitwell J, Jack CR, Lowe V, Petersen RC, Boeve BF. Arch Neurol; 2012 Sep 11; 69(9):1164-9. PubMed ID: 22637471 [Abstract] [Full Text] [Related]
8. Network degeneration and dysfunction in presymptomatic C9ORF72 expansion carriers. Lee SE, Sias AC, Mandelli ML, Brown JA, Brown AB, Khazenzon AM, Vidovszky AA, Zanto TP, Karydas AM, Pribadi M, Dokuru D, Coppola G, Geschwind DH, Rademakers R, Gorno-Tempini ML, Rosen HJ, Miller BL, Seeley WW. Neuroimage Clin; 2017 Sep 11; 14():286-297. PubMed ID: 28337409 [Abstract] [Full Text] [Related]
9. Different CSF protein profiles in amyotrophic lateral sclerosis and frontotemporal dementia with C9orf72 hexanucleotide repeat expansion. Barschke P, Oeckl P, Steinacker P, Al Shweiki MR, Weishaupt JH, Landwehrmeyer GB, Anderl-Straub S, Weydt P, Diehl-Schmid J, Danek A, Kornhuber J, Schroeter ML, Prudlo J, Jahn H, Fassbender K, Lauer M, van der Ende EL, van Swieten JC, Volk AE, Ludolph AC, Otto M, German FTLD consortium. J Neurol Neurosurg Psychiatry; 2020 May 11; 91(5):503-511. PubMed ID: 32132225 [Abstract] [Full Text] [Related]
10. 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 May 11; 58(3):701-709. PubMed ID: 28482638 [Abstract] [Full Text] [Related]
11. 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 May 11; 43():103649. PubMed ID: 39098187 [Abstract] [Full Text] [Related]
12. 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 11; 14(3):172-6. PubMed ID: 23421625 [Abstract] [Full Text] [Related]
14. Stable transgenic C9orf72 zebrafish model key aspects of the ALS/FTD phenotype and reveal novel pathological features. Shaw MP, Higginbottom A, McGown A, Castelli LM, James E, Hautbergue GM, Shaw PJ, Ramesh TM. Acta Neuropathol Commun; 2018 Nov 19; 6(1):125. PubMed ID: 30454072 [Abstract] [Full Text] [Related]
15. 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 19; 12(10):978-88. PubMed ID: 24011653 [Abstract] [Full Text] [Related]
16. 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 19; 135(Pt 3):723-35. PubMed ID: 22300876 [Abstract] [Full Text] [Related]
17. Screening for C9orf72 Expansion Mutation in Serbian Patients with Early-Onset Dementia. Mandic-Stojmenovic G, Stefanova E, Dobricic V, Novakovic I, Stojkovic T, Jesic A, Kostic V. Dement Geriatr Cogn Disord; 2015 Mar 19; 40(5-6):358-65. PubMed ID: 26401819 [Abstract] [Full Text] [Related]
18. Identification of C9orf72 repeat expansions in patients with amyotrophic lateral sclerosis and frontotemporal dementia in mainland China. Jiao B, Tang B, Liu X, Yan X, Zhou L, Yang Y, Wang J, Xia K, Shen L. Neurobiol Aging; 2014 Apr 19; 35(4):936.e19-22. PubMed ID: 24269022 [Abstract] [Full Text] [Related]
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20. Molecular pathology, developmental changes and synaptic dysfunction in (pre-) symptomatic human C9ORF72-ALS/FTD cerebral organoids. van der Geest AT, Jakobs CE, Ljubikj T, Huffels CFM, Cañizares Luna M, Vieira de Sá R, Adolfs Y, de Wit M, Rutten DH, Kaal M, Zwartkruis MM, Carcolé M, Groen EJN, Hol EM, Basak O, Isaacs AM, Westeneng HJ, van den Berg LH, Veldink JH, Schlegel DK, Pasterkamp RJ. Acta Neuropathol Commun; 2024 Sep 18; 12(1):152. PubMed ID: 39289761 [Abstract] [Full Text] [Related] Page: [Next] [New Search]