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Items: 1 to 20 of 43

1.

Systematic analysis of dark and camouflaged genes reveals disease-relevant genes hiding in plain sight.

Ebbert MTW, Jensen TD, Jansen-West K, Sens JP, Reddy JS, Ridge PG, Kauwe JSK, Belzil V, Pregent L, Carrasquillo MM, Keene D, Larson E, Crane P, Asmann YW, Ertekin-Taner N, Younkin SG, Ross OA, Rademakers R, Petrucelli L, Fryer JD.

Genome Biol. 2019 May 20;20(1):97. doi: 10.1186/s13059-019-1707-2.

2.

Aberrant deposition of stress granule-resident proteins linked to C9orf72-associated TDP-43 proteinopathy.

Chew J, Cook C, Gendron TF, Jansen-West K, Del Rosso G, Daughrity LM, Castanedes-Casey M, Kurti A, Stankowski JN, Disney MD, Rothstein JD, Dickson DW, Fryer JD, Zhang YJ, Petrucelli L.

Mol Neurodegener. 2019 Feb 15;14(1):9. doi: 10.1186/s13024-019-0310-z.

3.

Heterochromatin anomalies and double-stranded RNA accumulation underlie C9orf72 poly(PR) toxicity.

Zhang YJ, Guo L, Gonzales PK, Gendron TF, Wu Y, Jansen-West K, O'Raw AD, Pickles SR, Prudencio M, Carlomagno Y, Gachechiladze MA, Ludwig C, Tian R, Chew J, DeTure M, Lin WL, Tong J, Daughrity LM, Yue M, Song Y, Andersen JW, Castanedes-Casey M, Kurti A, Datta A, Antognetti G, McCampbell A, Rademakers R, Oskarsson B, Dickson DW, Kampmann M, Ward ME, Fryer JD, Link CD, Shorter J, Petrucelli L.

Science. 2019 Feb 15;363(6428). pii: eaav2606. doi: 10.1126/science.aav2606.

4.

Enhanced phosphorylation of T153 in soluble tau is a defining biochemical feature of the A152T tau risk variant.

Carlomagno Y, Chung DC, Yue M, Kurti A, Avendano NM, Castanedes-Casey M, Hinkle KM, Jansen-West K, Daughrity LM, Tong J, Phillips V, Rademakers R, DeTure M, Fryer JD, Dickson DW, Petrucelli L, Cook C.

Acta Neuropathol Commun. 2019 Jan 23;7(1):10. doi: 10.1186/s40478-019-0661-2.

5.

APOE ε2 is associated with increased tau pathology in primary tauopathy.

Zhao N, Liu CC, Van Ingelgom AJ, Linares C, Kurti A, Knight JA, Heckman MG, Diehl NN, Shinohara M, Martens YA, Attrebi ON, Petrucelli L, Fryer JD, Wszolek ZK, Graff-Radford NR, Caselli RJ, Sanchez-Contreras MY, Rademakers R, Murray ME, Koga S, Dickson DW, Ross OA, Bu G.

Nat Commun. 2018 Oct 22;9(1):4388. doi: 10.1038/s41467-018-06783-0.

6.

TRIO gene segregation in a family with cerebellar ataxia.

Hanna Al Shaikh R, Caulfield T, Strongosky AJ, Matthew M, Jansen-West KR, Prudencio M, Fryer JD, Petrucelli L, Uitti RJ, Wszolek ZK.

Neurol Neurochir Pol. 2018 Nov - Dec;52(6):743-749. doi: 10.1016/j.pjnns.2018.09.006. Epub 2018 Sep 22.

PMID:
30279051
7.

Risk Factors for Persistent Cognitive Impairment After Critical Illness, Nested Case-Control Study.

Sakusic A, Gajic O, Singh TD, O'Horo JC, Jenkins G, Wilson GA, Petersen R, Fryer JD, Kashyap R, Rabinstein AA.

Crit Care Med. 2018 Dec;46(12):1977-1984. doi: 10.1097/CCM.0000000000003395.

PMID:
30222636
8.

A matter of balance.

Gitler AD, Fryer JD.

Elife. 2018 Aug 21;7. pii: e40034. doi: 10.7554/eLife.40034.

9.

Long-read sequencing across the C9orf72 'GGGGCC' repeat expansion: implications for clinical use and genetic discovery efforts in human disease.

Ebbert MTW, Farrugia SL, Sens JP, Jansen-West K, Gendron TF, Prudencio M, McLaughlin IJ, Bowman B, Seetin M, DeJesus-Hernandez M, Jackson J, Brown PH, Dickson DW, van Blitterswijk M, Rademakers R, Petrucelli L, Fryer JD.

Mol Neurodegener. 2018 Aug 21;13(1):46. doi: 10.1186/s13024-018-0274-4.

10.

Microglial translational profiling reveals a convergent APOE pathway from aging, amyloid, and tau.

Kang SS, Ebbert MTW, Baker KE, Cook C, Wang X, Sens JP, Kocher JP, Petrucelli L, Fryer JD.

J Exp Med. 2018 Sep 3;215(9):2235-2245. doi: 10.1084/jem.20180653. Epub 2018 Aug 6.

11.

Poly(GR) impairs protein translation and stress granule dynamics in C9orf72-associated frontotemporal dementia and amyotrophic lateral sclerosis.

Zhang YJ, Gendron TF, Ebbert MTW, O'Raw AD, Yue M, Jansen-West K, Zhang X, Prudencio M, Chew J, Cook CN, Daughrity LM, Tong J, Song Y, Pickles SR, Castanedes-Casey M, Kurti A, Rademakers R, Oskarsson B, Dickson DW, Hu W, Gitler AD, Fryer JD, Petrucelli L.

Nat Med. 2018 Aug;24(8):1136-1142. doi: 10.1038/s41591-018-0071-1. Epub 2018 Jun 25.

12.

Loss of Tmem106b is unable to ameliorate frontotemporal dementia-like phenotypes in an AAV mouse model of C9ORF72-repeat induced toxicity.

Nicholson AM, Zhou X, Perkerson RB, Parsons TM, Chew J, Brooks M, DeJesus-Hernandez M, Finch NA, Matchett BJ, Kurti A, Jansen-West KR, Perkerson E, Daughrity L, Castanedes-Casey M, Rousseau L, Phillips V, Hu F, Gendron TF, Murray ME, Dickson DW, Fryer JD, Petrucelli L, Rademakers R.

Acta Neuropathol Commun. 2018 May 31;6(1):42. doi: 10.1186/s40478-018-0545-x.

13.

Potentially Modifiable Risk Factors for Long-Term Cognitive Impairment After Critical Illness: A Systematic Review.

Sakusic A, O'Horo JC, Dziadzko M, Volha D, Ali R, Singh TD, Kashyap R, Farrell AM, Fryer JD, Petersen R, Gajic O, Rabinstein AA.

Mayo Clin Proc. 2018 Jan;93(1):68-82. doi: 10.1016/j.mayocp.2017.11.005.

PMID:
29304923
14.

Behavioral and transcriptomic analysis of Trem2-null mice: not all knockout mice are created equal.

Kang SS, Kurti A, Baker KE, Liu CC, Colonna M, Ulrich JD, Holtzman DM, Bu G, Fryer JD.

Hum Mol Genet. 2018 Jan 15;27(2):211-223. doi: 10.1093/hmg/ddx366.

15.

Exercise training-induced modification of the gut microbiota persists after microbiota colonization and attenuates the response to chemically-induced colitis in gnotobiotic mice.

Allen JM, Mailing LJ, Cohrs J, Salmonson C, Fryer JD, Nehra V, Hale VL, Kashyap P, White BA, Woods JA.

Gut Microbes. 2018 Mar 4;9(2):115-130. doi: 10.1080/19490976.2017.1372077. Epub 2017 Sep 22.

16.

Capicua deficiency induces autoimmunity and promotes follicular helper T cell differentiation via derepression of ETV5.

Park S, Lee S, Lee CG, Park GY, Hong H, Lee JS, Kim YM, Lee SB, Hwang D, Choi YS, Fryer JD, Im SH, Lee SW, Lee Y.

Nat Commun. 2017 Jul 12;8:16037. doi: 10.1038/ncomms16037.

17.

TIA1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Promote Phase Separation and Alter Stress Granule Dynamics.

Mackenzie IR, Nicholson AM, Sarkar M, Messing J, Purice MD, Pottier C, Annu K, Baker M, Perkerson RB, Kurti A, Matchett BJ, Mittag T, Temirov J, Hsiung GR, Krieger C, Murray ME, Kato M, Fryer JD, Petrucelli L, Zinman L, Weintraub S, Mesulam M, Keith J, Zivkovic SA, Hirsch-Reinshagen V, Roos RP, Züchner S, Graff-Radford NR, Petersen RC, Caselli RJ, Wszolek ZK, Finger E, Lippa C, Lacomis D, Stewart H, Dickson DW, Kim HJ, Rogaeva E, Bigio E, Boylan KB, Taylor JP, Rademakers R.

Neuron. 2017 Aug 16;95(4):808-816.e9. doi: 10.1016/j.neuron.2017.07.025.

18.

Loss of clusterin shifts amyloid deposition to the cerebrovasculature via disruption of perivascular drainage pathways.

Wojtas AM, Kang SS, Olley BM, Gatherer M, Shinohara M, Lozano PA, Liu CC, Kurti A, Baker KE, Dickson DW, Yue M, Petrucelli L, Bu G, Carare RO, Fryer JD.

Proc Natl Acad Sci U S A. 2017 Aug 15;114(33):E6962-E6971. doi: 10.1073/pnas.1701137114. Epub 2017 Jul 12.

19.

Neonatal AAV delivery of alpha-synuclein induces pathology in the adult mouse brain.

Delenclos M, Faroqi AH, Yue M, Kurti A, Castanedes-Casey M, Rousseau L, Phillips V, Dickson DW, Fryer JD, McLean PJ.

Acta Neuropathol Commun. 2017 Jun 23;5(1):51. doi: 10.1186/s40478-017-0455-3.

20.

Poly(GP) proteins are a useful pharmacodynamic marker for C9ORF72-associated amyotrophic lateral sclerosis.

Gendron TF, Chew J, Stankowski JN, Hayes LR, Zhang YJ, Prudencio M, Carlomagno Y, Daughrity LM, Jansen-West K, Perkerson EA, O'Raw A, Cook C, Pregent L, Belzil V, van Blitterswijk M, Tabassian LJ, Lee CW, Yue M, Tong J, Song Y, Castanedes-Casey M, Rousseau L, Phillips V, Dickson DW, Rademakers R, Fryer JD, Rush BK, Pedraza O, Caputo AM, Desaro P, Palmucci C, Robertson A, Heckman MG, Diehl NN, Wiggs E, Tierney M, Braun L, Farren J, Lacomis D, Ladha S, Fournier CN, McCluskey LF, Elman LB, Toledo JB, McBride JD, Tiloca C, Morelli C, Poletti B, Solca F, Prelle A, Wuu J, Jockel-Balsarotti J, Rigo F, Ambrose C, Datta A, Yang W, Raitcheva D, Antognetti G, McCampbell A, Van Swieten JC, Miller BL, Boxer AL, Brown RH, Bowser R, Miller TM, Trojanowski JQ, Grossman M, Berry JD, Hu WT, Ratti A, Traynor BJ, Disney MD, Benatar M, Silani V, Glass JD, Floeter MK, Rothstein JD, Boylan KB, Petrucelli L.

Sci Transl Med. 2017 Mar 29;9(383). pii: eaai7866. doi: 10.1126/scitranslmed.aai7866.

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