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Frontotemporal lobar degeneration targets brain regions linked to expression of recently evolved genes. Brain. 2024 Sep 03; 147(9):3032-3047.
Pasquini L, Pereira FL, Seddighi S, Zeng Y, Wei Y, Illán-Gala I, Vatsavayai SC, Friedberg A, Lee AJ, Brown JA, Spina S, Grinberg LT, Sirkis DW, Bonham LW, Yokoyama JS, Boxer AL, Kramer JH, Rosen HJ, Humphrey J, Gitler AD, Miller BL, Pollard KS, Ward ME, Seeley WW. PMID: 38940350; PMCID: PMC11370792.
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1 Fields:
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HumansAnimals
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FTLD targets brain regions expressing recently evolved genes. medRxiv. 2023 Oct 28.
Pasquini L, Pereira FL, Seddighi S, Zeng Y, Wei Y, Illán-Gala I, Vatsavayai SC, Friedberg A, Lee AJ, Brown JA, Spina S, Grinberg LT, Sirkis DW, Bonham LW, Yokoyama JS, Boxer AL, Kramer JH, Rosen HJ, Humphrey J, Gitler AD, Miller BL, Pollard KS, Ward ME, Seeley WW. PMID: 37961381; PMCID: PMC10635220.
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1
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Loss of TDP-43 function contributes to genomic instability in amyotrophic lateral sclerosis. Front Neurosci. 2023; 17:1251228.
Fang M, Deibler SK, Nana AL, Vatsavayai SC, Banday S, Zhou Y, Almeida S, Weiss A, Brown RH, Seeley WW, Gao FB, Green MR. PMID: 37849894; PMCID: PMC10577185.
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1
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Tuberous sclerosis complex is associated with a novel human tauopathy. Acta Neuropathol. 2023 01; 145(1):1-12.
Hwang JL, Perloff OS, Gaus SE, Benitez C, Alquezar C, Cosme CQ, Nana AL, Vatsavayai SC, Ramos EM, Geschwind DH, Miller BL, Kao AW, Seeley WW. PMID: 36469115; PMCID: PMC10244026.
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3 Fields:
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Humans
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TDP-43 represses cryptic exon inclusion in the FTD-ALS gene UNC13A. Nature. 2022 03; 603(7899):124-130.
Ma XR, Prudencio M, Koike Y, Vatsavayai SC, Kim G, Harbinski F, Briner A, Rodriguez CM, Guo C, Akiyama T, Schmidt HB, Cummings BB, Wyatt DW, Kurylo K, Miller G, Mekhoubad S, Sallee N, Mekonnen G, Ganser L, Rubien JD, Jansen-West K, Cook CN, Pickles S, Oskarsson B, Graff-Radford NR, Boeve BF, Knopman DS, Petersen RC, Dickson DW, Shorter J, Myong S, Green EM, Seeley WW, Petrucelli L, Gitler AD. PMID: 35197626; PMCID: PMC8891019.
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165 Fields:
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HumansCells
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C9orf72-specific phenomena associated with frontotemporal dementia and gastrointestinal symptoms in the absence of TDP-43 aggregation. Acta Neuropathol. 2019 12; 138(6):1093-1097.
Sampognaro PJ, Vatsavayai SC, Cosme CG, Hwang JL, Nolan A, Huang EJ, Seeley WW, De May MG. PMID: 31624869; PMCID: PMC6858587.
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2 Fields:
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HumansCells
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C9orf72-FTD/ALS pathogenesis: evidence from human neuropathological studies. Acta Neuropathol. 2019 01; 137(1):1-26.
Vatsavayai SC, Nana AL, Yokoyama JS, Seeley WW. PMID: 30368547; PMCID: PMC6546170.
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31 Fields:
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HumansAnimalsCells
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Suppression of C9orf72 RNA repeat-induced neurotoxicity by the ALS-associated RNA-binding protein Zfp106. Elife. 2017 01 10; 6.
Celona B, Dollen JV, Vatsavayai SC, Kashima R, Johnson JR, Tang AA, Hata A, Miller BL, Huang EJ, Krogan NJ, Seeley WW, Black BL. PMID: 28072389; PMCID: PMC5283830.
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26 Fields:
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AnimalsCells
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Neuropathology of dementia. The Behavioral Neurology of Dementia. 2017 Jan 1; 94-122.
Kim KE, Vatsavayai VS, Seeley SW. .
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Timing and significance of pathological features in C9orf72 expansion-associated frontotemporal dementia. Brain. 2016 12; 139(Pt 12):3202-3216.
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. PMID: 27797809; PMCID: PMC5790143.
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97 Fields:
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HumansCells
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Dysfunctional Dopaminergic Neurones in Mouse Models of Huntington's Disease: A Role for SK3 Channels. Neurodegener Dis. 2015; 15(2):93-108.
Dallérac GM, Levasseur G, Vatsavayai SC, Milnerwood AJ, Cummings DM, Kraev I, Huetz C, Evans KA, Walters SW, Rezaie P, Cho Y, Hirst MC, Murphy KP. PMID: 25871323.
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12 Fields:
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HumansAnimalsCells
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B05 CAG profiling in R6/1 89Q indicates early and progressive expansion in critical neuronal populations and expansion and changes in surrounding glial cell populations. Journal of Neurology Neurosurgery & Psychiatry. 2012 Sep 1; 83(Suppl 1):a7.
Hirst HM, Vatsavayai VS, Dallerac DG, Milnerwood MA, Cummings CD, Rezaie RP, Evans EK, Stramek SA, Walters WS, Murphy MK. .
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B24 Dysfunctional dopaminergic neurones and biphasic activity-dependent dopamine release in mouse models of Huntington's disease. Journal of Neurology Neurosurgery & Psychiatry. 2012 Sep 1; 83(Suppl 1):a13.
Murphy MK, Dallerac DG, Milnerwood MA, Cummings CD, Vatsavayai VS, Stramek SA, Evans EK, Walters WS, Hirst HM. .
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Impaired long-term potentiation in the prefrontal cortex of Huntington's disease mouse models: rescue by D1 dopamine receptor activation. Neurodegener Dis. 2011; 8(4):230-9.
Dallérac GM, Vatsavayai SC, Cummings DM, Milnerwood AJ, Peddie CJ, Evans KA, Walters SW, Rezaie P, Hirst MC, Murphy KP. PMID: 21282937.
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14 Fields:
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AnimalsCells
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Abnormal cortical synaptic plasticity in a mouse model of Huntington's disease. Brain Res Bull. 2007 Apr 30; 72(2-3):103-7.
Cummings DM, Milnerwood AJ, Dallérac GM, Vatsavayai SC, Hirst MC, Murphy KP. PMID: 17352933.
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23 Fields:
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AnimalsCells
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Progressive CAG expansion in the brain of a novel R6/1-89Q mouse model of Huntington's disease with delayed phenotypic onset. Brain Res Bull. 2007 Apr 30; 72(2-3):98-102.
Vatsavayai SC, Dallérac GM, Milnerwood AJ, Cummings DM, Rezaie P, Murphy KP, Hirst MC. PMID: 17352932.
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6 Fields:
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AnimalsCells
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Aberrant cortical synaptic plasticity and dopaminergic dysfunction in a mouse model of Huntington's disease. Hum Mol Genet. 2006 Oct 01; 15(19):2856-68.
Cummings DM, Milnerwood AJ, Dallérac GM, Waights V, Brown JY, Vatsavayai SC, Hirst MC, Murphy KP. PMID: 16905556.
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53 Fields:
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HumansAnimalsCells
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Early development of aberrant synaptic plasticity in a mouse model of Huntington's disease. Hum Mol Genet. 2006 May 15; 15(10):1690-703.
Milnerwood AJ, Cummings DM, Dallérac GM, Brown JY, Vatsavayai SC, Hirst MC, Rezaie P, Murphy KP. PMID: 16600988.
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PubMed Mentions:
55 Fields:
Translation:
AnimalsCells