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p53 is a central regulator driving neurodegeneration caused by C9orf72 poly(PR).
Maor-Nof M, Shipony Z, Lopez-Gonzalez R, Nakayama L, Zhang YJ, Couthouis J, Blum JA, Castruita PA, Linares GR, Ruan K, Ramaswami G, Simon DJ, Nof A, Santana M, Han K, Sinnott-Armstrong N, Bassik MC, Geschwind DH, Tessier-Lavigne M, Attardi LD, Lloyd TE, Ichida JK, Gao FB, Greenleaf WJ, Yokoyama JS, Petrucelli L, Gitler AD. Maor-Nof M, et al. Among authors: geschwind dh. Cell. 2021 Feb 4;184(3):689-708.e20. doi: 10.1016/j.cell.2020.12.025. Epub 2021 Jan 21. Cell. 2021. PMID: 33482083 Free PMC article.
Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis.
Rutherford NJ, Zhang YJ, Baker M, Gass JM, Finch NA, Xu YF, Stewart H, Kelley BJ, Kuntz K, Crook RJ, Sreedharan J, Vance C, Sorenson E, Lippa C, Bigio EH, Geschwind DH, Knopman DS, Mitsumoto H, Petersen RC, Cashman NR, Hutton M, Shaw CE, Boylan KB, Boeve B, Graff-Radford NR, Wszolek ZK, Caselli RJ, Dickson DW, Mackenzie IR, Petrucelli L, Rademakers R. Rutherford NJ, et al. Among authors: geschwind dh. PLoS Genet. 2008 Sep 19;4(9):e1000193. doi: 10.1371/journal.pgen.1000193. PLoS Genet. 2008. PMID: 18802454 Free PMC article.
Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS.
DeJesus-Hernandez M, Mackenzie IR, Boeve BF, Boxer AL, Baker M, Rutherford NJ, Nicholson AM, Finch NA, Flynn H, Adamson J, Kouri N, Wojtas A, Sengdy P, Hsiung GY, Karydas A, Seeley WW, Josephs KA, Coppola G, Geschwind DH, Wszolek ZK, Feldman H, Knopman DS, Petersen RC, Miller BL, Dickson DW, Boylan KB, Graff-Radford NR, Rademakers R. DeJesus-Hernandez M, et al. Among authors: geschwind dh. Neuron. 2011 Oct 20;72(2):245-56. doi: 10.1016/j.neuron.2011.09.011. Epub 2011 Sep 21. Neuron. 2011. PMID: 21944778 Free PMC article.
Atypical, slowly progressive behavioural variant frontotemporal dementia associated with C9ORF72 hexanucleotide expansion.
Khan BK, Yokoyama JS, Takada LT, Sha SJ, Rutherford NJ, Fong JC, Karydas AM, Wu T, Ketelle RS, Baker MC, Hernandez MD, Coppola G, Geschwind DH, Rademakers R, Lee SE, Rosen HJ, Rabinovici GD, Seeley WW, Rankin KP, Boxer AL, Miller BL. Khan BK, et al. Among authors: geschwind dh. J Neurol Neurosurg Psychiatry. 2012 Apr;83(4):358-64. doi: 10.1136/jnnp-2011-301883. J Neurol Neurosurg Psychiatry. 2012. PMID: 22399793 Free PMC article.
Frontotemporal dementia due to C9ORF72 mutations: clinical and imaging features.
Sha SJ, Takada LT, Rankin KP, Yokoyama JS, Rutherford NJ, Fong JC, Khan B, Karydas A, Baker MC, DeJesus-Hernandez M, Pribadi M, Coppola G, Geschwind DH, Rademakers R, Lee SE, Seeley W, Miller BL, Boxer AL. Sha SJ, et al. Among authors: geschwind dh. Neurology. 2012 Sep 4;79(10):1002-11. doi: 10.1212/WNL.0b013e318268452e. Epub 2012 Aug 8. Neurology. 2012. PMID: 22875087 Free PMC article.
Induced pluripotent stem cell models of progranulin-deficient frontotemporal dementia uncover specific reversible neuronal defects.
Almeida S, Zhang Z, Coppola G, Mao W, Futai K, Karydas A, Geschwind MD, Tartaglia MC, Gao F, Gianni D, Sena-Esteves M, Geschwind DH, Miller BL, Farese RV Jr, Gao FB. Almeida S, et al. Among authors: geschwind dh, geschwind md. Cell Rep. 2012 Oct 25;2(4):789-98. doi: 10.1016/j.celrep.2012.09.007. Epub 2012 Oct 11. Cell Rep. 2012. PMID: 23063362 Free PMC article.
Altered network connectivity in frontotemporal dementia with C9orf72 hexanucleotide repeat expansion.
Lee SE, Khazenzon AM, Trujillo AJ, Guo CC, Yokoyama JS, Sha SJ, Takada LT, Karydas AM, Block NR, Coppola G, Pribadi M, Geschwind DH, Rademakers R, Fong JC, Weiner MW, Boxer AL, Kramer JH, Rosen HJ, Miller BL, Seeley WW. Lee SE, et al. Among authors: geschwind dh. Brain. 2014 Nov;137(Pt 11):3047-60. doi: 10.1093/brain/awu248. Epub 2014 Oct 1. Brain. 2014. PMID: 25273996 Free PMC article.
Human iPSC-Derived Neuronal Model of Tau-A152T Frontotemporal Dementia Reveals Tau-Mediated Mechanisms of Neuronal Vulnerability.
Silva MC, Cheng C, Mair W, Almeida S, Fong H, Biswas MHU, Zhang Z, Huang Y, Temple S, Coppola G, Geschwind DH, Karydas A, Miller BL, Kosik KS, Gao FB, Steen JA, Haggarty SJ. Silva MC, et al. Among authors: geschwind dh. Stem Cell Reports. 2016 Sep 13;7(3):325-340. doi: 10.1016/j.stemcr.2016.08.001. Epub 2016 Sep 1. Stem Cell Reports. 2016. PMID: 27594585 Free PMC article.
Timing and significance of pathological features in C9orf72 expansion-associated frontotemporal dementia.
Vatsavayai SC, Yoon SJ, Gardner RC, Gendron TF, Vargas JN, Trujillo A, Pribadi M, Phillips JJ, Gaus SE, Hixson JD, Garcia PA, Rabinovici GD, Coppola G, Geschwind DH, Petrucelli L, Miller BL, Seeley WW. Vatsavayai SC, et al. Among authors: geschwind dh. Brain. 2016 Dec;139(Pt 12):3202-3216. doi: 10.1093/brain/aww250. Epub 2016 Oct 22. Brain. 2016. PMID: 27797809 Free PMC article.
587 results