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Items: 1 to 50 of 69

1.

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 Sep 22. pii: S0028-3843(18)30236-6. doi: 10.1016/j.pjnns.2018.09.006. [Epub ahead of print]

PMID:
30279051
2.

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 Sep 14. doi: 10.1097/CCM.0000000000003395. [Epub ahead of print]

PMID:
30222636
3.

A matter of balance.

Gitler AD, Fryer JD.

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

4.

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.

5.

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.

PMID:
30082275
6.

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.

PMID:
29942091
7.

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.

8.

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. Review.

PMID:
29304923
9.

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.

10.

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.

11.

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.

12.

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.

13.

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.

14.

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.

15.

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.

16.

Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans.

Lu HC, Tan Q, Rousseaux MW, Wang W, Kim JY, Richman R, Wan YW, Yeh SY, Patel JM, Liu X, Lin T, Lee Y, Fryer JD, Han J, Chahrour M, Finnell RH, Lei Y, Zurita-Jimenez ME, Ahimaz P, Anyane-Yeboa K, Van Maldergem L, Lehalle D, Jean-Marcais N, Mosca-Boidron AL, Thevenon J, Cousin MA, Bro DE, Lanpher BC, Klee EW, Alexander N, Bainbridge MN, Orr HT, Sillitoe RV, Ljungberg MC, Liu Z, Schaaf CP, Zoghbi HY.

Nat Genet. 2017 Apr;49(4):527-536. doi: 10.1038/ng.3808. Epub 2017 Mar 13.

17.

Subacute ibuprofen treatment rescues the synaptic and cognitive deficits in advanced-aged mice.

Rogers JT, Liu CC, Zhao N, Wang J, Putzke T, Yang L, Shinohara M, Fryer JD, Kanekiyo T, Bu G.

Neurobiol Aging. 2017 May;53:112-121. doi: 10.1016/j.neurobiolaging.2017.02.001. Epub 2017 Feb 9.

18.

Soluble TREM2 induces inflammatory responses and enhances microglial survival.

Zhong L, Chen XF, Wang T, Wang Z, Liao C, Wang Z, Huang R, Wang D, Li X, Wu L, Jia L, Zheng H, Painter M, Atagi Y, Liu CC, Zhang YW, Fryer JD, Xu H, Bu G.

J Exp Med. 2017 Mar 6;214(3):597-607. doi: 10.1084/jem.20160844. Epub 2017 Feb 16.

19.

TREM2 Promotes Microglial Survival by Activating Wnt/β-Catenin Pathway.

Zheng H, Jia L, Liu CC, Rong Z, Zhong L, Yang L, Chen XF, Fryer JD, Wang X, Zhang YW, Xu H, Bu G.

J Neurosci. 2017 Feb 15;37(7):1772-1784. doi: 10.1523/JNEUROSCI.2459-16.2017. Epub 2017 Jan 11.

20.

Lipocalin-2 protects the brain during inflammatory conditions.

Kang SS, Ren Y, Liu CC, Kurti A, Baker KE, Bu G, Asmann Y, Fryer JD.

Mol Psychiatry. 2018 Feb;23(2):344-350. doi: 10.1038/mp.2016.243. Epub 2017 Jan 10.

21.

Derivation and validation of the automated search algorithms to identify cognitive impairment and dementia in electronic health records.

Amra S, O'Horo JC, Singh TD, Wilson GA, Kashyap R, Petersen R, Roberts RO, Fryer JD, Rabinstein AA, Gajic O.

J Crit Care. 2017 Feb;37:202-205. doi: 10.1016/j.jcrc.2016.09.026. Epub 2016 Oct 8.

PMID:
27969571
22.

Identification of plexin A4 as a novel clusterin receptor links two Alzheimer's disease risk genes.

Kang SS, Kurti A, Wojtas A, Baker KE, Liu CC, Kanekiyo T, Deming Y, Cruchaga C, Estus S, Bu G, Fryer JD.

Hum Mol Genet. 2016 Aug 15;25(16):3467-3475. doi: 10.1093/hmg/ddw188. Epub 2016 Jul 4.

23.

Impact of sex and APOE4 on cerebral amyloid angiopathy in Alzheimer's disease.

Shinohara M, Murray ME, Frank RD, Shinohara M, DeTure M, Yamazaki Y, Tachibana M, Atagi Y, Davis MD, Liu CC, Zhao N, Painter MM, Petersen RC, Fryer JD, Crook JE, Dickson DW, Bu G, Kanekiyo T.

Acta Neuropathol. 2016 Aug;132(2):225-34. doi: 10.1007/s00401-016-1580-y. Epub 2016 May 14.

24.

Opposing roles of the triggering receptor expressed on myeloid cells 2 and triggering receptor expressed on myeloid cells-like transcript 2 in microglia activation.

Zheng H, Liu CC, Atagi Y, Chen XF, Jia L, Yang L, He W, Zhang X, Kang SS, Rosenberry TL, Fryer JD, Zhang YW, Xu H, Bu G.

Neurobiol Aging. 2016 Jun;42:132-41. doi: 10.1016/j.neurobiolaging.2016.03.004. Epub 2016 Mar 16.

25.

ABCA7 Deficiency Accelerates Amyloid-β Generation and Alzheimer's Neuronal Pathology.

Sakae N, Liu CC, Shinohara M, Frisch-Daiello J, Ma L, Yamazaki Y, Tachibana M, Younkin L, Kurti A, Carrasquillo MM, Zou F, Sevlever D, Bisceglio G, Gan M, Fol R, Knight P, Wang M, Han X, Fryer JD, Fitzgerald ML, Ohyagi Y, Younkin SG, Bu G, Kanekiyo T.

J Neurosci. 2016 Mar 30;36(13):3848-59. doi: 10.1523/JNEUROSCI.3757-15.2016.

26.

C9ORF72 poly(GA) aggregates sequester and impair HR23 and nucleocytoplasmic transport proteins.

Zhang YJ, Gendron TF, Grima JC, Sasaguri H, Jansen-West K, Xu YF, Katzman RB, Gass J, Murray ME, Shinohara M, Lin WL, Garrett A, Stankowski JN, Daughrity L, Tong J, Perkerson EA, Yue M, Chew J, Castanedes-Casey M, Kurti A, Wang ZS, Liesinger AM, Baker JD, Jiang J, Lagier-Tourenne C, Edbauer D, Cleveland DW, Rademakers R, Boylan KB, Bu G, Link CD, Dickey CA, Rothstein JD, Dickson DW, Fryer JD, Petrucelli L.

Nat Neurosci. 2016 May;19(5):668-677. doi: 10.1038/nn.4272. Epub 2016 Mar 21.

27.

APOE2 eases cognitive decline during Aging: Clinical and preclinical evaluations.

Shinohara M, Kanekiyo T, Yang L, Linthicum D, Shinohara M, Fu Y, Price L, Frisch-Daiello JL, Han X, Fryer JD, Bu G.

Ann Neurol. 2016 May;79(5):758-774. doi: 10.1002/ana.24628. Epub 2016 Mar 29.

28.

Apolipoprotein E Is a Ligand for Triggering Receptor Expressed on Myeloid Cells 2 (TREM2).

Atagi Y, Liu CC, Painter MM, Chen XF, Verbeeck C, Zheng H, Li X, Rademakers R, Kang SS, Xu H, Younkin S, Das P, Fryer JD, Bu G.

J Biol Chem. 2015 Oct 23;290(43):26043-50. doi: 10.1074/jbc.M115.679043. Epub 2015 Sep 15.

29.

TREM2 in CNS homeostasis and neurodegenerative disease.

Painter MM, Atagi Y, Liu CC, Rademakers R, Xu H, Fryer JD, Bu G.

Mol Neurodegener. 2015 Sep 4;10:43. doi: 10.1186/s13024-015-0040-9. Review.

30.

Tau deposition drives neuropathological, inflammatory and behavioral abnormalities independently of neuronal loss in a novel mouse model.

Cook C, Kang SS, Carlomagno Y, Lin WL, Yue M, Kurti A, Shinohara M, Jansen-West K, Perkerson E, Castanedes-Casey M, Rousseau L, Phillips V, Bu G, Dickson DW, Petrucelli L, Fryer JD.

Hum Mol Genet. 2015 Nov 1;24(21):6198-212. doi: 10.1093/hmg/ddv336. Epub 2015 Aug 13.

31.

Neurodegeneration. C9ORF72 repeat expansions in mice cause TDP-43 pathology, neuronal loss, and behavioral deficits.

Chew J, Gendron TF, Prudencio M, Sasaguri H, Zhang YJ, Castanedes-Casey M, Lee CW, Jansen-West K, Kurti A, Murray ME, Bieniek KF, Bauer PO, Whitelaw EC, Rousseau L, Stankowski JN, Stetler C, Daughrity LM, Perkerson EA, Desaro P, Johnston A, Overstreet K, Edbauer D, Rademakers R, Boylan KB, Dickson DW, Fryer JD, Petrucelli L.

Science. 2015 Jun 5;348(6239):1151-4. doi: 10.1126/science.aaa9344. Epub 2015 May 14.

32.

Progressive dopaminergic alterations and mitochondrial abnormalities in LRRK2 G2019S knock-in mice.

Yue M, Hinkle KM, Davies P, Trushina E, Fiesel FC, Christenson TA, Schroeder AS, Zhang L, Bowles E, Behrouz B, Lincoln SJ, Beevers JE, Milnerwood AJ, Kurti A, McLean PJ, Fryer JD, Springer W, Dickson DW, Farrer MJ, Melrose HL.

Neurobiol Dis. 2015 Jun;78:172-95. doi: 10.1016/j.nbd.2015.02.031. Epub 2015 Mar 31.

33.

Voluntary and forced exercise differentially alters the gut microbiome in C57BL/6J mice.

Allen JM, Berg Miller ME, Pence BD, Whitlock K, Nehra V, Gaskins HR, White BA, Fryer JD, Woods JA.

J Appl Physiol (1985). 2015 Apr 15;118(8):1059-66. doi: 10.1152/japplphysiol.01077.2014. Epub 2015 Feb 12.

34.

Deficiency of Capicua disrupts bile acid homeostasis.

Kim E, Park S, Choi N, Lee J, Yoe J, Kim S, Jung HY, Kim KT, Kang H, Fryer JD, Zoghbi HY, Hwang D, Lee Y.

Sci Rep. 2015 Feb 5;5:8272. doi: 10.1038/srep08272.

35.

Large-scale topology and the default mode network in the mouse connectome.

Stafford JM, Jarrett BR, Miranda-Dominguez O, Mills BD, Cain N, Mihalas S, Lahvis GP, Lattal KM, Mitchell SH, David SV, Fryer JD, Nigg JT, Fair DA.

Proc Natl Acad Sci U S A. 2014 Dec 30;111(52):18745-50. doi: 10.1073/pnas.1404346111. Epub 2014 Dec 15.

36.

Deficiency in LRP6-mediated Wnt signaling contributes to synaptic abnormalities and amyloid pathology in Alzheimer's disease.

Liu CC, Tsai CW, Deak F, Rogers J, Penuliar M, Sung YM, Maher JN, Fu Y, Li X, Xu H, Estus S, Hoe HS, Fryer JD, Kanekiyo T, Bu G.

Neuron. 2014 Oct 1;84(1):63-77. doi: 10.1016/j.neuron.2014.08.048. Epub 2014 Sep 18.

37.

Diet and exercise orthogonally alter the gut microbiome and reveal independent associations with anxiety and cognition.

Kang SS, Jeraldo PR, Kurti A, Miller ME, Cook MD, Whitlock K, Goldenfeld N, Woods JA, White BA, Chia N, Fryer JD.

Mol Neurodegener. 2014 Sep 13;9:36. doi: 10.1186/1750-1326-9-36.

38.

Dietary intervention rescues maternal obesity induced behavior deficits and neuroinflammation in offspring.

Kang SS, Kurti A, Fair DA, Fryer JD.

J Neuroinflammation. 2014 Sep 12;11:156. doi: 10.1186/s12974-014-0156-9.

39.

Severe amygdala dysfunction in a MAPT transgenic mouse model of frontotemporal dementia.

Cook C, Dunmore JH, Murray ME, Scheffel K, Shukoor N, Tong J, Castanedes-Casey M, Phillips V, Rousseau L, Penuliar MS, Kurti A, Dickson DW, Petrucelli L, Fryer JD.

Neurobiol Aging. 2014 Jul;35(7):1769-77. doi: 10.1016/j.neurobiolaging.2013.12.023. Epub 2013 Dec 26.

40.

Autophagy in astrocytes: a novel culprit in lysosomal storage disorders.

Di Malta C, Fryer JD, Settembre C, Ballabio A.

Autophagy. 2012 Dec;8(12):1871-2. doi: 10.4161/auto.22184. Epub 2012 Oct 9.

41.

Astrocyte dysfunction triggers neurodegeneration in a lysosomal storage disorder.

Di Malta C, Fryer JD, Settembre C, Ballabio A.

Proc Natl Acad Sci U S A. 2012 Aug 28;109(35):E2334-42. doi: 10.1073/pnas.1209577109. Epub 2012 Jul 23.

42.
43.

Exercise and genetic rescue of SCA1 via the transcriptional repressor Capicua.

Fryer JD, Yu P, Kang H, Mandel-Brehm C, Carter AN, Crespo-Barreto J, Gao Y, Flora A, Shaw C, Orr HT, Zoghbi HY.

Science. 2011 Nov 4;334(6056):690-3. doi: 10.1126/science.1212673.

44.

ATXN1 protein family and CIC regulate extracellular matrix remodeling and lung alveolarization.

Lee Y, Fryer JD, Kang H, Crespo-Barreto J, Bowman AB, Gao Y, Kahle JJ, Hong JS, Kheradmand F, Orr HT, Finegold MJ, Zoghbi HY.

Dev Cell. 2011 Oct 18;21(4):746-57. doi: 10.1016/j.devcel.2011.08.017.

45.

Partial loss of ataxin-1 function contributes to transcriptional dysregulation in spinocerebellar ataxia type 1 pathogenesis.

Crespo-Barreto J, Fryer JD, Shaw CA, Orr HT, Zoghbi HY.

PLoS Genet. 2010 Jul 8;6(7):e1001021. doi: 10.1371/journal.pgen.1001021.

46.

A partial loss of function allele of methyl-CpG-binding protein 2 predicts a human neurodevelopmental syndrome.

Samaco RC, Fryer JD, Ren J, Fyffe S, Chao HT, Sun Y, Greer JJ, Zoghbi HY, Neul JL.

Hum Mol Genet. 2008 Jun 15;17(12):1718-27. doi: 10.1093/hmg/ddn062. Epub 2008 Mar 4.

47.

Duplication of Atxn1l suppresses SCA1 neuropathology by decreasing incorporation of polyglutamine-expanded ataxin-1 into native complexes.

Bowman AB, Lam YC, Jafar-Nejad P, Chen HK, Richman R, Samaco RC, Fryer JD, Kahle JJ, Orr HT, Zoghbi HY.

Nat Genet. 2007 Mar;39(3):373-9. Epub 2007 Feb 18.

PMID:
17322884
48.

ATAXIN-1 interacts with the repressor Capicua in its native complex to cause SCA1 neuropathology.

Lam YC, Bowman AB, Jafar-Nejad P, Lim J, Richman R, Fryer JD, Hyun ED, Duvick LA, Orr HT, Botas J, Zoghbi HY.

Cell. 2006 Dec 29;127(7):1335-47.

49.

Huntingtin's critical cleavage.

Fryer JD, Zoghbi HY.

Nat Neurosci. 2006 Sep;9(9):1088-9. No abstract available.

PMID:
16936769
50.

The bad seed in Alzheimer's disease.

Fryer JD, Holtzman DM.

Neuron. 2005 Jul 21;47(2):167-8.

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