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Items: 1 to 50 of 189

1.

Assessment of executive function declines in presymptomatic and mildly symptomatic familial frontotemporal dementia: NIH-EXAMINER as a potential clinical trial endpoint.

Staffaroni AM, Bajorek L, Casaletto KB, Cobigo Y, Goh SM, Wolf A, Heuer HW, Elahi FM, Ljubenkov PA, Dever R, Kornak J, Appleby B, Bove J, Bordelon Y, Brannelly P, Brushaber D, Caso C, Coppola G, Dheel C, Dickerson BC, Dickinson S, Dominguez S, Domoto-Reilly K, Faber K, Ferrall J, Fields JA, Fishman A, Fong J, Foroud T, Forsberg LK, Gavrilova R, Gearhart D, Ghazanfari B, Ghoshal N, Goldman J, Graff-Radford J, Graff-Radford N, Grant I, Grossman M, Haley D, Hsiung GY, Huey ED, Irwin DJ, Jones DT, Jones L, Kantarci K, Karydas A, Kaufer DI, Kerwin DR, Knopman DS, Kraft R, Kremers WK, Kukull WA, Litvan I, Lucente D, Lungu C, Mackenzie IR, Maldonado M, Manoochehri M, McGinnis SM, McKinley E, Mendez MF, Miller BL, Multani N, Onyike C, Padmanabhan J, Pantelyat A, Pearlman R, Petrucelli L, Potter M, Rademakers R, Ramos EM, Rankin KP, Rascovsky K, Roberson ED, Rogalski E, Sengdy P, Shaw LM, Syrjanen J, Tartaglia MC, Tatton N, Taylor J, Toga A, Trojanowski JQ, Weintraub S, Wang P, Wong B, Wszolek Z, Boxer AL, Boeve BF, Kramer JH, Rosen HJ; ARTFL/LEFFTDS consortium.

Alzheimers Dement. 2019 May 11. pii: S1552-5260(19)30044-5. doi: 10.1016/j.jalz.2019.01.012. [Epub ahead of print]

2.

Genome-wide analyses as part of the international FTLD-TDP whole-genome sequencing consortium reveals novel disease risk factors and increases support for immune dysfunction in FTLD.

Pottier C, Ren Y, Perkerson RB 3rd, Baker M, Jenkins GD, van Blitterswijk M, DeJesus-Hernandez M, van Rooij JGJ, Murray ME, Christopher E, McDonnell SK, Fogarty Z, Batzler A, Tian S, Vicente CT, Matchett B, Karydas AM, Hsiung GR, Seelaar H, Mol MO, Finger EC, Graff C, Öijerstedt L, Neumann M, Heutink P, Synofzik M, Wilke C, Prudlo J, Rizzu P, Simon-Sanchez J, Edbauer D, Roeber S, Diehl-Schmid J, Evers BM, King A, Mesulam MM, Weintraub S, Geula C, Bieniek KF, Petrucelli L, Ahern GL, Reiman EM, Woodruff BK, Caselli RJ, Huey ED, Farlow MR, Grafman J, Mead S, Grinberg LT, Spina S, Grossman M, Irwin DJ, Lee EB, Suh E, Snowden J, Mann D, Ertekin-Taner N, Uitti RJ, Wszolek ZK, Josephs KA, Parisi JE, Knopman DS, Petersen RC, Hodges JR, Piguet O, Geier EG, Yokoyama JS, Rissman RA, Rogaeva E, Keith J, Zinman L, Tartaglia MC, Cairns NJ, Cruchaga C, Ghetti B, Kofler J, Lopez OL, Beach TG, Arzberger T, Herms J, Honig LS, Vonsattel JP, Halliday GM, Kwok JB, White CL 3rd, Gearing M, Glass J, Rollinson S, Pickering-Brown S, Rohrer JD, Trojanowski JQ, Van Deerlin V, Bigio EH, Troakes C, Al-Sarraj S, Asmann Y, Miller BL, Graff-Radford NR, Boeve BF, Seeley WW, Mackenzie IRA, van Swieten JC, Dickson DW, Biernacka JM, Rademakers R.

Acta Neuropathol. 2019 Jun;137(6):879-899. doi: 10.1007/s00401-019-01962-9. Epub 2019 Feb 9.

PMID:
30739198
3.

CNS-derived extracellular vesicles from superoxide dismutase 1 (SOD1)G93A ALS mice originate from astrocytes and neurons and carry misfolded SOD1.

Silverman JM, Christy D, Shyu CC, Moon KM, Fernando S, Gidden Z, Cowan CM, Ban Y, Stacey RG, Grad LI, McAlary L, Mackenzie IR, Foster LJ, Cashman NR.

J Biol Chem. 2019 Mar 8;294(10):3744-3759. doi: 10.1074/jbc.RA118.004825. Epub 2019 Jan 11.

PMID:
30635404
4.

Review: Neuropathology of non-tau frontotemporal lobar degeneration.

Neumann M, Mackenzie IRA.

Neuropathol Appl Neurobiol. 2019 Feb;45(1):19-40. doi: 10.1111/nan.12526. Review.

PMID:
30357887
5.

Prevalence of amyloid-β pathology in distinct variants of primary progressive aphasia.

Bergeron D, Gorno-Tempini ML, Rabinovici GD, Santos-Santos MA, Seeley W, Miller BL, Pijnenburg Y, Keulen MA, Groot C, van Berckel BNM, van der Flier WM, Scheltens P, Rohrer JD, Warren JD, Schott JM, Fox NC, Sanchez-Valle R, Grau-Rivera O, Gelpi E, Seelaar H, Papma JM, van Swieten JC, Hodges JR, Leyton CE, Piguet O, Rogalski EJ, Mesulam MM, Koric L, Nora K, Pariente J, Dickerson B, Mackenzie IR, Hsiung GR, Belliard S, Irwin DJ, Wolk DA, Grossman M, Jones M, Harris J, Mann D, Snowden JS, Chrem-Mendez P, Calandri IL, Amengual AA, Miguet-Alfonsi C, Magnin E, Magnani G, Santangelo R, Deramecourt V, Pasquier F, Mattsson N, Nilsson C, Hansson O, Keith J, Masellis M, Black SE, Matías-Guiu JA, Cabrera-Martin MN, Paquet C, Dumurgier J, Teichmann M, Sarazin M, Bottlaender M, Dubois B, Rowe CC, Villemagne VL, Vandenberghe R, Granadillo E, Teng E, Mendez M, Meyer PT, Frings L, Lleó A, Blesa R, Fortea J, Seo SW, Diehl-Schmid J, Grimmer T, Frederiksen KS, Sánchez-Juan P, Chételat G, Jansen W, Bouchard RW, Laforce RJ, Visser PJ, Ossenkoppele R.

Ann Neurol. 2018 Nov;84(5):729-740. doi: 10.1002/ana.25333.

6.

A mitochondrial DNA D loop insertion detected almost exclusively in non-replicating tissues with maternal inheritance across three generations.

Sharma MA, Lee JYJ, Tam A, Sattha B, Mackenzie IR, Vallance HD, Sirrs S, Hannah-Shmouni F, Côté HCF, Mattman A.

Mitochondrion. 2019 May;46:298-301. doi: 10.1016/j.mito.2018.08.002. Epub 2018 Aug 13.

PMID:
30114489
7.

Novel antibodies reveal presynaptic localization of C9orf72 protein and reduced protein levels in C9orf72 mutation carriers.

Frick P, Sellier C, Mackenzie IRA, Cheng CY, Tahraoui-Bories J, Martinat C, Pasterkamp RJ, Prudlo J, Edbauer D, Oulad-Abdelghani M, Feederle R, Charlet-Berguerand N, Neumann M.

Acta Neuropathol Commun. 2018 Aug 3;6(1):72. doi: 10.1186/s40478-018-0579-0.

8.

Activity of translation regulator eukaryotic elongation factor-2 kinase is increased in Parkinson disease brain and its inhibition reduces alpha synuclein toxicity.

Jan A, Jansonius B, Delaidelli A, Bhanshali F, An YA, Ferreira N, Smits LM, Negri GL, Schwamborn JC, Jensen PH, Mackenzie IR, Taubert S, Sorensen PH.

Acta Neuropathol Commun. 2018 Jul 2;6(1):54. doi: 10.1186/s40478-018-0554-9.

9.

Development and validation of a novel dementia of Alzheimer's type (DAT) score based on metabolism FDG-PET imaging.

Popuri K, Balachandar R, Alpert K, Lu D, Bhalla M, Mackenzie IR, Hsiung RG, Wang L, Beg MF; Alzheimer's Disease Neuroimaging Initiative.

Neuroimage Clin. 2018 Mar 10;18:802-813. doi: 10.1016/j.nicl.2018.03.007. eCollection 2018.

10.

Gray matter changes in asymptomatic C9orf72 and GRN mutation carriers.

Popuri K, Dowds E, Beg MF, Balachandar R, Bhalla M, Jacova C, Buller A, Slack P, Sengdy P, Rademakers R, Wittenberg D, Feldman HH, Mackenzie IR, Hsiung GR.

Neuroimage Clin. 2018 Feb 17;18:591-598. doi: 10.1016/j.nicl.2018.02.017. eCollection 2018.

11.

Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study.

Pottier C, Zhou X, Perkerson RB 3rd, Baker M, Jenkins GD, Serie DJ, Ghidoni R, Benussi L, Binetti G, López de Munain A, Zulaica M, Moreno F, Le Ber I, Pasquier F, Hannequin D, Sánchez-Valle R, Antonell A, Lladó A, Parsons TM, Finch NA, Finger EC, Lippa CF, Huey ED, Neumann M, Heutink P, Synofzik M, Wilke C, Rissman RA, Slawek J, Sitek E, Johannsen P, Nielsen JE, Ren Y, van Blitterswijk M, DeJesus-Hernandez M, Christopher E, Murray ME, Bieniek KF, Evers BM, Ferrari C, Rollinson S, Richardson A, Scarpini E, Fumagalli GG, Padovani A, Hardy J, Momeni P, Ferrari R, Frangipane F, Maletta R, Anfossi M, Gallo M, Petrucelli L, Suh E, Lopez OL, Wong TH, van Rooij JGJ, Seelaar H, Mead S, Caselli RJ, Reiman EM, Noel Sabbagh M, Kjolby M, Nykjaer A, Karydas AM, Boxer AL, Grinberg LT, Grafman J, Spina S, Oblak A, Mesulam MM, Weintraub S, Geula C, Hodges JR, Piguet O, Brooks WS, Irwin DJ, Trojanowski JQ, Lee EB, Josephs KA, Parisi JE, Ertekin-Taner N, Knopman DS, Nacmias B, Piaceri I, Bagnoli S, Sorbi S, Gearing M, Glass J, Beach TG, Black SE, Masellis M, Rogaeva E, Vonsattel JP, Honig LS, Kofler J, Bruni AC, Snowden J, Mann D, Pickering-Brown S, Diehl-Schmid J, Winkelmann J, Galimberti D, Graff C, Öijerstedt L, Troakes C, Al-Sarraj S, Cruchaga C, Cairns NJ, Rohrer JD, Halliday GM, Kwok JB, van Swieten JC, White CL 3rd, Ghetti B, Murell JR, Mackenzie IRA, Hsiung GR, Borroni B, Rossi G, Tagliavini F, Wszolek ZK, Petersen RC, Bigio EH, Grossman M, Van Deerlin VM, Seeley WW, Miller BL, Graff-Radford NR, Boeve BF, Dickson DW, Biernacka JM, Rademakers R.

Lancet Neurol. 2018 Jun;17(6):548-558. doi: 10.1016/S1474-4422(18)30126-1. Epub 2018 Apr 30.

12.

Developmental Delay, Treatment-Resistant Psychosis, and Early-Onset Dementia in a Man With 22q11 Deletion Syndrome and Huntington's Disease.

Farrell M, Lichtenstein M, Crowley JJ, Filmyer DM, Lázaro-Muñoz G, Shaughnessy RA, Mackenzie IR, Hirsch-Reinshagen V, Stowe R, Evans JP, Berg JS, Szatkiewicz J, Josiassen RC, Sullivan PF.

Am J Psychiatry. 2018 May 1;175(5):400-407. doi: 10.1176/appi.ajp.2017.17060638. No abstract available.

13.

Decreased Prefrontal Activation during Matrix Reasoning in Predementia Progranulin Mutation Carriers.

Alexander C, Zeithamova D, Hsiung GR, Mackenzie IR, Jacova C.

J Alzheimers Dis. 2018;62(2):583-589. doi: 10.3233/JAD-170716.

PMID:
29480174
14.

Drusen in the Peripheral Retina of the Alzheimer's Eye.

Ukalovic K, Cao S, Lee S, Tang Q, Beg MF, Sarunic MV, Hsiung GR, Mackenzie IR, Hirsch-Reinshagen V, Cui JZ, Matsubara JA.

Curr Alzheimer Res. 2018;15(8):743-750. doi: 10.2174/1567205015666180123122637.

PMID:
29359670
15.

Clinical and neuropathological features of ALS/FTD with TIA1 mutations.

Hirsch-Reinshagen V, Pottier C, Nicholson AM, Baker M, Hsiung GR, Krieger C, Sengdy P, Boylan KB, Dickson DW, Mesulam M, Weintraub S, Bigio E, Zinman L, Keith J, Rogaeva E, Zivkovic SA, Lacomis D, Taylor JP, Rademakers R, Mackenzie IRA.

Acta Neuropathol Commun. 2017 Dec 7;5(1):96. doi: 10.1186/s40478-017-0493-x.

16.

Spinal cord homogenates from SOD1 familial amyotrophic lateral sclerosis induce SOD1 aggregation in living cells.

Pokrishevsky E, Hong RH, Mackenzie IR, Cashman NR.

PLoS One. 2017 Sep 6;12(9):e0184384. doi: 10.1371/journal.pone.0184384. eCollection 2017.

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.

Multisite Assessment of Aging-Related Tau Astrogliopathy (ARTAG).

Kovacs GG, Xie SX, Lee EB, Robinson JL, Caswell C, Irwin DJ, Toledo JB, Johnson VE, Smith DH, Alafuzoff I, Attems J, Bencze J, Bieniek KF, Bigio EH, Bodi I, Budka H, Dickson DW, Dugger BN, Duyckaerts C, Ferrer I, Forrest SL, Gelpi E, Gentleman SM, Giaccone G, Grinberg LT, Halliday GM, Hatanpaa KJ, Hof PR, Hofer M, Hortobágyi T, Ironside JW, King A, Kofler J, Kövari E, Kril JJ, Love S, Mackenzie IR, Mao Q, Matej R, McLean C, Munoz DG, Murray ME, Neltner J, Nelson PT, Ritchie D, Rodriguez RD, Rohan Z, Rozemuller A, Sakai K, Schultz C, Seilhean D, Smith V, Tacik P, Takahashi H, Takao M, Rudolf Thal D, Weis S, Wharton SB, White CL 3rd, Woulfe JM, Yamada M, Trojanowski JQ.

J Neuropathol Exp Neurol. 2017 Jul 1;76(7):605-619. doi: 10.1093/jnen/nlx041.

19.

Reappraisal of TDP-43 pathology in FTLD-U subtypes.

Mackenzie IR, Neumann M.

Acta Neuropathol. 2017 Jul;134(1):79-96. doi: 10.1007/s00401-017-1716-8. Epub 2017 May 2.

PMID:
28466142
20.

Individuals with progranulin haploinsufficiency exhibit features of neuronal ceroid lipofuscinosis.

Ward ME, Chen R, Huang HY, Ludwig C, Telpoukhovskaia M, Taubes A, Boudin H, Minami SS, Reichert M, Albrecht P, Gelfand JM, Cruz-Herranz A, Cordano C, Alavi MV, Leslie S, Seeley WW, Miller BL, Bigio E, Mesulam MM, Bogyo MS, Mackenzie IR, Staropoli JF, Cotman SL, Huang EJ, Gan L, Green AJ.

Sci Transl Med. 2017 Apr 12;9(385). pii: eaah5642. doi: 10.1126/scitranslmed.aah5642.

21.

Fused in Sarcoma Neuropathology in Neurodegenerative Disease.

Mackenzie IRA, Neumann M.

Cold Spring Harb Perspect Med. 2017 Dec 1;7(12). pii: a024299. doi: 10.1101/cshperspect.a024299. Review.

PMID:
28096243
22.

An Unusual Case of Rabies Encephalitis.

Walker G, Thiessen B, Graeb D, Moore GR, Mackenzie IR.

Can J Neurol Sci. 2016 Nov;43(6):852-855. Epub 2016 Aug 31.

PMID:
27579969
23.

Reduced hnRNPA3 increases C9orf72 repeat RNA levels and dipeptide-repeat protein deposition.

Mori K, Nihei Y, Arzberger T, Zhou Q, Mackenzie IR, Hermann A, Hanisch F; German Consortium for Frontotemporal Lobar Degeneration; Bavarian Brain Banking Alliance, Kamp F, Nuscher B, Orozco D, Edbauer D, Haass C.

EMBO Rep. 2016 Sep;17(9):1314-25. doi: 10.15252/embr.201541724. Epub 2016 Jul 26.

24.

Molecular neuropathology of frontotemporal dementia: insights into disease mechanisms from postmortem studies.

Mackenzie IR, Neumann M.

J Neurochem. 2016 Aug;138 Suppl 1:54-70. doi: 10.1111/jnc.13588. Epub 2016 Jun 15. Review.

25.

Progranulin Deficiency Promotes Circuit-Specific Synaptic Pruning by Microglia via Complement Activation.

Lui H, Zhang J, Makinson SR, Cahill MK, Kelley KW, Huang HY, Shang Y, Oldham MC, Martens LH, Gao F, Coppola G, Sloan SA, Hsieh CL, Kim CC, Bigio EH, Weintraub S, Mesulam MM, Rademakers R, Mackenzie IR, Seeley WW, Karydas A, Miller BL, Borroni B, Ghidoni R, Farese RV Jr, Paz JT, Barres BA, Huang EJ.

Cell. 2016 May 5;165(4):921-35. doi: 10.1016/j.cell.2016.04.001. Epub 2016 Apr 21.

26.

Monomethylated and unmethylated FUS exhibit increased binding to Transportin and distinguish FTLD-FUS from ALS-FUS.

Suárez-Calvet M, Neumann M, Arzberger T, Abou-Ajram C, Funk E, Hartmann H, Edbauer D, Kremmer E, Göbl C, Resch M, Bourgeois B, Madl T, Reber S, Jutzi D, Ruepp MD, Mackenzie IR, Ansorge O, Dormann D, Haass C.

Acta Neuropathol. 2016 Apr;131(4):587-604. doi: 10.1007/s00401-016-1544-2. Epub 2016 Feb 19.

PMID:
26895297
27.

Aging-related tau astrogliopathy (ARTAG): harmonized evaluation strategy.

Kovacs GG, Ferrer I, Grinberg LT, Alafuzoff I, Attems J, Budka H, Cairns NJ, Crary JF, Duyckaerts C, Ghetti B, Halliday GM, Ironside JW, Love S, Mackenzie IR, Munoz DG, Murray ME, Nelson PT, Takahashi H, Trojanowski JQ, Ansorge O, Arzberger T, Baborie A, Beach TG, Bieniek KF, Bigio EH, Bodi I, Dugger BN, Feany M, Gelpi E, Gentleman SM, Giaccone G, Hatanpaa KJ, Heale R, Hof PR, Hofer M, Hortobágyi T, Jellinger K, Jicha GA, Ince P, Kofler J, Kövari E, Kril JJ, Mann DM, Matej R, McKee AC, McLean C, Milenkovic I, Montine TJ, Murayama S, Lee EB, Rahimi J, Rodriguez RD, Rozemüller A, Schneider JA, Schultz C, Seeley W, Seilhean D, Smith C, Tagliavini F, Takao M, Thal DR, Toledo JB, Tolnay M, Troncoso JC, Vinters HV, Weis S, Wharton SB, White CL 3rd, Wisniewski T, Woulfe JM, Yamada M, Dickson DW.

Acta Neuropathol. 2016 Jan;131(1):87-102. doi: 10.1007/s00401-015-1509-x. Epub 2015 Dec 10. Review.

28.

The role of dipeptide-repeat protein pathology in C9orf72 mutation cases.

Mackenzie IR.

Neuropathol Appl Neurobiol. 2016 Apr;42(3):217-9. doi: 10.1111/nan.12296. No abstract available.

PMID:
26577056
29.

Quantitative analysis and clinico-pathological correlations of different dipeptide repeat protein pathologies in C9ORF72 mutation carriers.

Mackenzie IR, Frick P, Grässer FA, Gendron TF, Petrucelli L, Cashman NR, Edbauer D, Kremmer E, Prudlo J, Troost D, Neumann M.

Acta Neuropathol. 2015 Dec;130(6):845-61. doi: 10.1007/s00401-015-1476-2. Epub 2015 Sep 15.

PMID:
26374446
30.

Two cases of rheumatoid meningitis.

Magaki S, Chang E, Hammond RR, Yang I, Mackenzie IR, Chou BT, Choi SI, Jen JC, Pope WB, Bell DA, Vinters HV.

Neuropathology. 2016 Feb;36(1):93-102. doi: 10.1111/neup.12238. Epub 2015 Sep 8.

PMID:
26350538
31.

Jump from pre-mutation to pathologic expansion in C9orf72.

Xi Z, van Blitterswijk M, Zhang M, McGoldrick P, McLean JR, Yunusova Y, Knock E, Moreno D, Sato C, McKeever PM, Schneider R, Keith J, Petrescu N, Fraser P, Tartaglia MC, Baker MC, Graff-Radford NR, Boylan KB, Dickson DW, Mackenzie IR, Rademakers R, Robertson J, Zinman L, Rogaeva E.

Am J Hum Genet. 2015 Jun 4;96(6):962-70. doi: 10.1016/j.ajhg.2015.04.016. Epub 2015 May 21.

32.

PART, a distinct tauopathy, different from classical sporadic Alzheimer disease.

Jellinger KA, Alafuzoff I, Attems J, Beach TG, Cairns NJ, Crary JF, Dickson DW, Hof PR, Hyman BT, Jack CR Jr, Jicha GA, Knopman DS, Kovacs GG, Mackenzie IR, Masliah E, Montine TJ, Nelson PT, Schmitt F, Schneider JA, Serrano-Pozo A, Thal DR, Toledo JB, Trojanowski JQ, Troncoso JC, Vonsattel JP, Wisniewski T.

Acta Neuropathol. 2015 May;129(5):757-62. doi: 10.1007/s00401-015-1407-2. Epub 2015 Mar 17. No abstract available.

33.

Rabies encephalitis.

Co SJ, Mackenzie IR, Shewchuk JR.

Radiographics. 2015 Jan-Feb;35(1):235-8. doi: 10.1148/rg.351140035. No abstract available.

PMID:
25590400
34.

Primary age-related tauopathy (PART): a common pathology associated with human aging.

Crary JF, Trojanowski JQ, Schneider JA, Abisambra JF, Abner EL, Alafuzoff I, Arnold SE, Attems J, Beach TG, Bigio EH, Cairns NJ, Dickson DW, Gearing M, Grinberg LT, Hof PR, Hyman BT, Jellinger K, Jicha GA, Kovacs GG, Knopman DS, Kofler J, Kukull WA, Mackenzie IR, Masliah E, McKee A, Montine TJ, Murray ME, Neltner JH, Santa-Maria I, Seeley WW, Serrano-Pozo A, Shelanski ML, Stein T, Takao M, Thal DR, Toledo JB, Troncoso JC, Vonsattel JP, White CL 3rd, Wisniewski T, Woltjer RL, Yamada M, Nelson PT.

Acta Neuropathol. 2014 Dec;128(6):755-66. doi: 10.1007/s00401-014-1349-0. Epub 2014 Oct 28.

35.

Genetic modifiers in carriers of repeat expansions in the C9ORF72 gene.

van Blitterswijk M, Mullen B, Wojtas A, Heckman MG, Diehl NN, Baker MC, DeJesus-Hernandez M, Brown PH, Murray ME, Hsiung GY, Stewart H, Karydas AM, Finger E, Kertesz A, Bigio EH, Weintraub S, Mesulam M, Hatanpaa KJ, White CL 3rd, Neumann M, Strong MJ, Beach TG, Wszolek ZK, Lippa C, Caselli R, Petrucelli L, Josephs KA, Parisi JE, Knopman DS, Petersen RC, Mackenzie IR, Seeley WW, Grinberg LT, Miller BL, Boylan KB, Graff-Radford NR, Boeve BF, Dickson DW, Rademakers R.

Mol Neurodegener. 2014 Sep 20;9:38. doi: 10.1186/1750-1326-9-38.

36.

Early neuropsychological characteristics of progranulin mutation carriers.

Hallam BJ, Jacova C, Hsiung GY, Wittenberg D, Sengdy P, Bouchard-Kerr P, Slack P, Rademakers R, Baker M, Chow TW, Levine B, Feldman HH, Mackenzie IR.

J Int Neuropsychol Soc. 2014 Aug;20(7):694-703. doi: 10.1017/S1355617714000551. Epub 2014 Jul 4.

PMID:
24993774
37.

Frontotemporal dementia and its subtypes: a genome-wide association study.

Ferrari R, Hernandez DG, Nalls MA, Rohrer JD, Ramasamy A, Kwok JB, Dobson-Stone C, Brooks WS, Schofield PR, Halliday GM, Hodges JR, Piguet O, Bartley L, Thompson E, Haan E, Hernández I, Ruiz A, Boada M, Borroni B, Padovani A, Cruchaga C, Cairns NJ, Benussi L, Binetti G, Ghidoni R, Forloni G, Galimberti D, Fenoglio C, Serpente M, Scarpini E, Clarimón J, Lleó A, Blesa R, Waldö ML, Nilsson K, Nilsson C, Mackenzie IR, Hsiung GY, Mann DM, Grafman J, Morris CM, Attems J, Griffiths TD, McKeith IG, Thomas AJ, Pietrini P, Huey ED, Wassermann EM, Baborie A, Jaros E, Tierney MC, Pastor P, Razquin C, Ortega-Cubero S, Alonso E, Perneczky R, Diehl-Schmid J, Alexopoulos P, Kurz A, Rainero I, Rubino E, Pinessi L, Rogaeva E, St George-Hyslop P, Rossi G, Tagliavini F, Giaccone G, Rowe JB, Schlachetzki JC, Uphill J, Collinge J, Mead S, Danek A, Van Deerlin VM, Grossman M, Trojanowski JQ, van der Zee J, Deschamps W, Van Langenhove T, Cruts M, Van Broeckhoven C, Cappa SF, Le Ber I, Hannequin D, Golfier V, Vercelletto M, Brice A, Nacmias B, Sorbi S, Bagnoli S, Piaceri I, Nielsen JE, Hjermind LE, Riemenschneider M, Mayhaus M, Ibach B, Gasparoni G, Pichler S, Gu W, Rossor MN, Fox NC, Warren JD, Spillantini MG, Morris HR, Rizzu P, Heutink P, Snowden JS, Rollinson S, Richardson A, Gerhard A, Bruni AC, Maletta R, Frangipane F, Cupidi C, Bernardi L, Anfossi M, Gallo M, Conidi ME, Smirne N, Rademakers R, Baker M, Dickson DW, Graff-Radford NR, Petersen RC, Knopman D, Josephs KA, Boeve BF, Parisi JE, Seeley WW, Miller BL, Karydas AM, Rosen H, van Swieten JC, Dopper EG, Seelaar H, Pijnenburg YA, Scheltens P, Logroscino G, Capozzo R, Novelli V, Puca AA, Franceschi M, Postiglione A, Milan G, Sorrentino P, Kristiansen M, Chiang HH, Graff C, Pasquier F, Rollin A, Deramecourt V, Lebert F, Kapogiannis D, Ferrucci L, Pickering-Brown S, Singleton AB, Hardy J, Momeni P.

Lancet Neurol. 2014 Jul;13(7):686-99. doi: 10.1016/S1474-4422(14)70065-1.

38.

Ataxin-2 as potential disease modifier in C9ORF72 expansion carriers.

van Blitterswijk M, Mullen B, Heckman MG, Baker MC, DeJesus-Hernandez M, Brown PH, Murray ME, Hsiung GY, Stewart H, Karydas AM, Finger E, Kertesz A, Bigio EH, Weintraub S, Mesulam M, Hatanpaa KJ, White CL 3rd, Neumann M, Strong MJ, Beach TG, Wszolek ZK, Lippa C, Caselli R, Petrucelli L, Josephs KA, Parisi JE, Knopman DS, Petersen RC, Mackenzie IR, Seeley WW, Grinberg LT, Miller BL, Boylan KB, Graff-Radford NR, Boeve BF, Dickson DW, Rademakers R.

Neurobiol Aging. 2014 Oct;35(10):2421.e13-7. doi: 10.1016/j.neurobiolaging.2014.04.016. Epub 2014 May 2.

39.

Frontotemporal lobar degeneration: current perspectives.

Riedl L, Mackenzie IR, Förstl H, Kurz A, Diehl-Schmid J.

Neuropsychiatr Dis Treat. 2014 Feb 13;10:297-310. doi: 10.2147/NDT.S38706. eCollection 2014. Review.

40.

Intercellular propagated misfolding of wild-type Cu/Zn superoxide dismutase occurs via exosome-dependent and -independent mechanisms.

Grad LI, Yerbury JJ, Turner BJ, Guest WC, Pokrishevsky E, O'Neill MA, Yanai A, Silverman JM, Zeineddine R, Corcoran L, Kumita JR, Luheshi LM, Yousefi M, Coleman BM, Hill AF, Plotkin SS, Mackenzie IR, Cashman NR.

Proc Natl Acad Sci U S A. 2014 Mar 4;111(9):3620-5. doi: 10.1073/pnas.1312245111. Epub 2014 Feb 18.

41.

Early dipeptide repeat pathology in a frontotemporal dementia kindred with C9ORF72 mutation and intellectual disability.

Proudfoot M, Gutowski NJ, Edbauer D, Hilton DA, Stephens M, Rankin J, Mackenzie IR.

Acta Neuropathol. 2014 Mar;127(3):451-8. doi: 10.1007/s00401-014-1245-7. Epub 2014 Jan 21.

PMID:
24445903
42.

TMEM106B protects C9ORF72 expansion carriers against frontotemporal dementia.

van Blitterswijk M, Mullen B, Nicholson AM, Bieniek KF, Heckman MG, Baker MC, DeJesus-Hernandez M, Finch NA, Brown PH, Murray ME, Hsiung GY, Stewart H, Karydas AM, Finger E, Kertesz A, Bigio EH, Weintraub S, Mesulam M, Hatanpaa KJ, White CL 3rd, Strong MJ, Beach TG, Wszolek ZK, Lippa C, Caselli R, Petrucelli L, Josephs KA, Parisi JE, Knopman DS, Petersen RC, Mackenzie IR, Seeley WW, Grinberg LT, Miller BL, Boylan KB, Graff-Radford NR, Boeve BF, Dickson DW, Rademakers R.

Acta Neuropathol. 2014 Mar;127(3):397-406. doi: 10.1007/s00401-013-1240-4. Epub 2014 Jan 3.

43.

The neuropathology associated with repeat expansions in the C9ORF72 gene.

Mackenzie IR, Frick P, Neumann M.

Acta Neuropathol. 2014 Mar;127(3):347-57. doi: 10.1007/s00401-013-1232-4. Epub 2013 Dec 20. Review.

PMID:
24356984
44.

Targeted manipulation of the sortilin-progranulin axis rescues progranulin haploinsufficiency.

Lee WC, Almeida S, Prudencio M, Caulfield TR, Zhang YJ, Tay WM, Bauer PO, Chew J, Sasaguri H, Jansen-West KR, Gendron TF, Stetler CT, Finch N, Mackenzie IR, Rademakers R, Gao FB, Petrucelli L.

Hum Mol Genet. 2014 Mar 15;23(6):1467-78. doi: 10.1093/hmg/ddt534. Epub 2013 Oct 26.

45.

Dipeptide repeat protein pathology in C9ORF72 mutation cases: clinico-pathological correlations.

Mackenzie IR, Arzberger T, Kremmer E, Troost D, Lorenzl S, Mori K, Weng SM, Haass C, Kretzschmar HA, Edbauer D, Neumann M.

Acta Neuropathol. 2013 Dec;126(6):859-79. doi: 10.1007/s00401-013-1181-y. Epub 2013 Oct 6.

PMID:
24096617
46.

Interaction of FUS and HDAC1 regulates DNA damage response and repair in neurons.

Wang WY, Pan L, Su SC, Quinn EJ, Sasaki M, Jimenez JC, Mackenzie IR, Huang EJ, Tsai LH.

Nat Neurosci. 2013 Oct;16(10):1383-91. doi: 10.1038/nn.3514. Epub 2013 Sep 15.

47.

C9ORF72 repeat expansions in cases with previously identified pathogenic mutations.

van Blitterswijk M, Baker MC, DeJesus-Hernandez M, Ghidoni R, Benussi L, Finger E, Hsiung GY, Kelley BJ, Murray ME, Rutherford NJ, Brown PE, Ravenscroft T, Mullen B, Ash PE, Bieniek KF, Hatanpaa KJ, Karydas A, Wood EM, Coppola G, Bigio EH, Lippa C, Strong MJ, Beach TG, Knopman DS, Huey ED, Mesulam M, Bird T, White CL 3rd, Kertesz A, Geschwind DH, Van Deerlin VM, Petersen RC, Binetti G, Miller BL, Petrucelli L, Wszolek ZK, Boylan KB, Graff-Radford NR, Mackenzie IR, Boeve BF, Dickson DW, Rademakers R.

Neurology. 2013 Oct 8;81(15):1332-41. doi: 10.1212/WNL.0b013e3182a8250c. Epub 2013 Sep 11.

48.

Anterior brain glucose hypometabolism predates dementia in progranulin mutation carriers.

Jacova C, Hsiung GY, Tawankanjanachot I, Dinelle K, McCormick S, Gonzalez M, Lee H, Sengdy P, Bouchard-Kerr P, Baker M, Rademakers R, Sossi V, Stoessl AJ, Feldman HH, Mackenzie IR.

Neurology. 2013 Oct 8;81(15):1322-31. doi: 10.1212/WNL.0b013e3182a8237e. Epub 2013 Sep 4.

49.

TREM2 in neurodegeneration: evidence for association of the p.R47H variant with frontotemporal dementia and Parkinson's disease.

Rayaprolu S, Mullen B, Baker M, Lynch T, Finger E, Seeley WW, Hatanpaa KJ, Lomen-Hoerth C, Kertesz A, Bigio EH, Lippa C, Josephs KA, Knopman DS, White CL 3rd, Caselli R, Mackenzie IR, Miller BL, Boczarska-Jedynak M, Opala G, Krygowska-Wajs A, Barcikowska M, Younkin SG, Petersen RC, Ertekin-Taner N, Uitti RJ, Meschia JF, Boylan KB, Boeve BF, Graff-Radford NR, Wszolek ZK, Dickson DW, Rademakers R, Ross OA.

Mol Neurodegener. 2013 Jun 21;8:19. doi: 10.1186/1750-1326-8-19.

50.

TMEM106B p.T185S regulates TMEM106B protein levels: implications for frontotemporal dementia.

Nicholson AM, Finch NA, Wojtas A, Baker MC, Perkerson RB 3rd, Castanedes-Casey M, Rousseau L, Benussi L, Binetti G, Ghidoni R, Hsiung GY, Mackenzie IR, Finger E, Boeve BF, Ertekin-Taner N, Graff-Radford NR, Dickson DW, Rademakers R.

J Neurochem. 2013 Sep;126(6):781-91. doi: 10.1111/jnc.12329. Epub 2013 Jul 1.

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