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Items: 1 to 50 of 299

1.

Three VCP Mutations in Patients with Frontotemporal Dementia.

Hang Wong T, Pottier C, Hondius D, H H Meeter L, G J van Rooij J, Melhem S, Brain Bank TN, van Minkelen R, M van Duijn C, J M Rozemuller A, Seelaar H, Rademakers R, C van Swieten J.

J Alzheimers Dis. 2018 Aug 9. doi: 10.3233/JAD-180301. [Epub ahead of print]

PMID:
30103325
2.

Poly-GR dipeptide repeat polymers correlate with neurodegeneration and Clinicopathological subtypes in C9ORF72-related brain disease.

Sakae N, Bieniek KF, Zhang YJ, Ross K, Gendron TF, Murray ME, Rademakers R, Petrucelli L, Dickson DW.

Acta Neuropathol Commun. 2018 Jul 20;6(1):63. doi: 10.1186/s40478-018-0564-7.

3.

Replication of progressive supranuclear palsy genome-wide association study identifies SLCO1A2 and DUSP10 as new susceptibility loci.

Sanchez-Contreras MY, Kouri N, Cook CN, Serie DJ, Heckman MG, Finch NA, Caselli RJ, Uitti RJ, Wszolek ZK, Graff-Radford N, Petrucelli L, Wang LS, Schellenberg GD, Dickson DW, Rademakers R, Ross OA.

Mol Neurodegener. 2018 Jul 9;13(1):37. doi: 10.1186/s13024-018-0267-3.

4.

Dipeptide repeat proteins activate a heat shock response found in C9ORF72-ALS/FTLD patients.

Mordes DA, Prudencio M, Goodman LD, Klim JR, Moccia R, Limone F, Pietilainen O, Chowdhary K, Dickson DW, Rademakers R, Bonini NM, Petrucelli L, Eggan K.

Acta Neuropathol Commun. 2018 Jul 4;6(1):55. doi: 10.1186/s40478-018-0555-8.

5.

TMEM106B haplotypes have distinct gene expression patterns in aged brain.

Ren Y, van Blitterswijk M, Allen M, Carrasquillo MM, Reddy JS, Wang X, Beach TG, Dickson DW, Ertekin-Taner N, Asmann YW, Rademakers R.

Mol Neurodegener. 2018 Jul 3;13(1):35. doi: 10.1186/s13024-018-0268-2.

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.

Partial Tmem106b reduction does not correct abnormalities due to progranulin haploinsufficiency.

Arrant AE, Nicholson AM, Zhou X, Rademakers R, Roberson ED.

Mol Neurodegener. 2018 Jun 22;13(1):32. doi: 10.1186/s13024-018-0264-6.

8.

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.

9.

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.

10.

Poly(GP), neurofilament and grey matter deficits in C9orf72 expansion carriers.

Meeter LHH, Gendron TF, Sias AC, Jiskoot LC, Russo SP, Donker Kaat L, Papma JM, Panman JL, van der Ende EL, Dopper EG, Franzen S, Graff C, Boxer AL, Rosen HJ, Sanchez-Valle R, Galimberti D, Pijnenburg YAL, Benussi L, Ghidoni R, Borroni B, Laforce R Jr, Del Campo M, Teunissen CE, van Minkelen R, Rojas JC, Coppola G, Geschwind DH, Rademakers R, Karydas AM, Öijerstedt L, Scarpini E, Binetti G, Padovani A, Cash DM, Dick KM, Bocchetta M, Miller BL, Rohrer JD, Petrucelli L, van Swieten JC, Lee SE.

Ann Clin Transl Neurol. 2018 Apr 6;5(5):583-597. doi: 10.1002/acn3.559. eCollection 2018 May.

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.

PMID:
29724592
12.

Identification of missing variants by combining multiple analytic pipelines.

Ren Y, Reddy JS, Pottier C, Sarangi V, Tian S, Sinnwell JP, McDonnell SK, Biernacka JM, Carrasquillo MM, Ross OA, Ertekin-Taner N, Rademakers R, Hudson M, Mainzer LS, Asmann YW.

BMC Bioinformatics. 2018 Apr 16;19(1):139. doi: 10.1186/s12859-018-2151-0.

13.

Repeat expansions in myoclonic epilepsy.

van Blitterswijk M, Rademakers R.

Nat Genet. 2018 Apr;50(4):477-478. doi: 10.1038/s41588-018-0093-0. No abstract available.

PMID:
29632377
14.

Combined Pathologies in FTLD-TDP Types A and C.

Gefen T, Ahmadian SS, Mao Q, Kim G, Seckin M, Bonakdarpour B, Ramos EM, Coppola G, Rademakers R, Rogalski E, Rademaker A, Weintraub S, Mesulam MM, Geula C, Bigio EH.

J Neuropathol Exp Neurol. 2018 May 1;77(5):405-412. doi: 10.1093/jnen/nly018.

PMID:
29584904
15.

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.

Nicolas A, Kenna KP, Renton AE, Ticozzi N, Faghri F, Chia R, Dominov JA, Kenna BJ, Nalls MA, Keagle P, Rivera AM, van Rheenen W, Murphy NA, van Vugt JJFA, Geiger JT, Van der Spek RA, Pliner HA, Shankaracharya, Smith BN, Marangi G, Topp SD, Abramzon Y, Gkazi AS, Eicher JD, Kenna A; ITALSGEN Consortium, Mora G, Calvo A, Mazzini L, Riva N, Mandrioli J, Caponnetto C, Battistini S, Volanti P, La Bella V, Conforti FL, Borghero G, Messina S, Simone IL, Trojsi F, Salvi F, Logullo FO, D'Alfonso S, Corrado L, Capasso M, Ferrucci L; Genomic Translation for ALS Care (GTAC) Consortium, Moreno CAM, Kamalakaran S, Goldstein DB; ALS Sequencing Consortium, Gitler AD, Harris T, Myers RM; NYGC ALS Consortium, Phatnani H, Musunuri RL, Evani US, Abhyankar A, Zody MC; Answer ALS Foundation, Kaye J, Finkbeiner S, Wyman SK, LeNail A, Lima L, Fraenkel E, Svendsen CN, Thompson LM, Van Eyk JE, Berry JD, Miller TM, Kolb SJ, Cudkowicz M, Baxi E; Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium, Benatar M, Taylor JP, Rampersaud E, Wu G, Wuu J; SLAGEN Consortium, Lauria G, Verde F, Fogh I, Tiloca C, Comi GP, Sorarù G, Cereda C; French ALS Consortium, Corcia P, Laaksovirta H, Myllykangas L, Jansson L, Valori M, Ealing J, Hamdalla H, Rollinson S, Pickering-Brown S, Orrell RW, Sidle KC, Malaspina A, Hardy J, Singleton AB, Johnson JO, Arepalli S, Sapp PC, McKenna-Yasek D, Polak M, Asress S, Al-Sarraj S, King A, Troakes C, Vance C, de Belleroche J, Baas F, Ten Asbroek ALMA, Muñoz-Blanco JL, Hernandez DG, Ding J, Gibbs JR, Scholz SW, Floeter MK, Campbell RH, Landi F, Bowser R, Pulst SM, Ravits JM, MacGowan DJL, Kirby J, Pioro EP, Pamphlett R, Broach J, Gerhard G, Dunckley TL, Brady CB, Kowall NW, Troncoso JC, Le Ber I, Mouzat K, Lumbroso S, Heiman-Patterson TD, Kamel F, Van Den Bosch L, Baloh RH, Strom TM, Meitinger T, Shatunov A, Van Eijk KR, de Carvalho M, Kooyman M, Middelkoop B, Moisse M, McLaughlin RL, Van Es MA, Weber M, Boylan KB, Van Blitterswijk M, Rademakers R, Morrison KE, Basak AN, Mora JS, Drory VE, Shaw PJ, Turner MR, Talbot K, Hardiman O, Williams KL, Fifita JA, Nicholson GA, Blair IP, Rouleau GA, Esteban-Pérez J, García-Redondo A, Al-Chalabi A; Project MinE ALS Sequencing Consortium, Rogaeva E, Zinman L, Ostrow LW, Maragakis NJ, Rothstein JD, Simmons Z, Cooper-Knock J, Brice A, Goutman SA, Feldman EL, Gibson SB, Taroni F, Ratti A, Gellera C, Van Damme P, Robberecht W, Fratta P, Sabatelli M, Lunetta C, Ludolph AC, Andersen PM, Weishaupt JH, Camu W, Trojanowski JQ, Van Deerlin VM, Brown RH Jr, van den Berg LH, Veldink JH, Harms MB, Glass JD, Stone DJ, Tienari P, Silani V, Chiò A, Shaw CE, Traynor BJ, Landers JE.

Neuron. 2018 Mar 21;97(6):1268-1283.e6. doi: 10.1016/j.neuron.2018.02.027.

PMID:
29566793
16.

Identification of compound heterozygous variants in OPTN in an ALS-FTD patient from the CReATe consortium: a case report.

Pottier C, Rampersaud E, Baker M, Wu G, Wuu J, McCauley JL, Zuchner S, Schule R, Bermudez C, Hussain S, Cooley A, Wallace M, Zhang J, Taylor JP, Benatar M, Rademakers R.

Amyotroph Lateral Scler Frontotemporal Degener. 2018 Aug;19(5-6):469-471. doi: 10.1080/21678421.2018.1452947. Epub 2018 Mar 20.

PMID:
29558868
17.

Partial loss of function of colony-stimulating factor 1 receptor in a patient with white matter abnormalities.

Konno T, Miura T, Harriott AM, Mezaki N, Edwards ES, Rademakers R, Ross OA, Meschia JF, Ikeuchi T, Wszolek ZK.

Eur J Neurol. 2018 Jun;25(6):875-881. doi: 10.1111/ene.13611. Epub 2018 Apr 3.

PMID:
29509319
18.

In vivo 18F-AV-1451 tau PET signal in MAPT mutation carriers varies by expected tau isoforms.

Jones DT, Knopman DS, Graff-Radford J, Syrjanen JA, Senjem ML, Schwarz CG, Dheel C, Wszolek Z, Rademakers R, Kantarci K, Petersen RC, Jack CR Jr, Lowe VJ, Boeve BF.

Neurology. 2018 Mar 13;90(11):e947-e954. doi: 10.1212/WNL.0000000000005117. Epub 2018 Feb 9.

PMID:
29440563
19.

Slowly progressive dementia caused by MAPT R406W mutations: longitudinal report on a new kindred and systematic review.

Ygland E, van Westen D, Englund E, Rademakers R, Wszolek ZK, Nilsson K, Nilsson C, Landqvist Waldö M, Alafuzoff I, Hansson O, Gustafson L, Puschmann A.

Alzheimers Res Ther. 2018 Jan 9;10(1):2. doi: 10.1186/s13195-017-0330-2.

20.

Relationships between lewy and tau pathologies in 375 consecutive non-Alzheimer's olfactory bulbs.

Kasanuki K, Ross OA, DeTure MA, Walton RL, Sanchez-Contreras M, Koga S, Murray ME, Rademakers R, Dickson DW.

Mov Disord. 2018 Feb;33(2):333-334. doi: 10.1002/mds.27250. Epub 2018 Jan 11. No abstract available.

PMID:
29322556
21.

TDP-43 pathology disrupts nuclear pore complexes and nucleocytoplasmic transport in ALS/FTD.

Chou CC, Zhang Y, Umoh ME, Vaughan SW, Lorenzini I, Liu F, Sayegh M, Donlin-Asp PG, Chen YH, Duong DM, Seyfried NT, Powers MA, Kukar T, Hales CM, Gearing M, Cairns NJ, Boylan KB, Dickson DW, Rademakers R, Zhang YJ, Petrucelli L, Sattler R, Zarnescu DC, Glass JD, Rossoll W.

Nat Neurosci. 2018 Feb;21(2):228-239. doi: 10.1038/s41593-017-0047-3. Epub 2018 Jan 8.

22.

Unaffected mosaic C9orf72 case: RNA foci, dipeptide proteins, but upregulated C9orf72 expression.

McGoldrick P, Zhang M, van Blitterswijk M, Sato C, Moreno D, Xiao S, Zhang AB, McKeever PM, Weichert A, Schneider R, Keith J, Petrucelli L, Rademakers R, Zinman L, Robertson J, Rogaeva E.

Neurology. 2018 Jan 23;90(4):e323-e331. doi: 10.1212/WNL.0000000000004865. Epub 2017 Dec 27.

23.

Mitotic defects lead to neuronal aneuploidy and apoptosis in frontotemporal lobar degeneration caused by MAPT mutations.

Caneus J, Granic A, Rademakers R, Dickson DW, Coughlan CM, Chial HJ, Potter H.

Mol Biol Cell. 2018 Mar 1;29(5):575-586. doi: 10.1091/mbc.E17-01-0031. Epub 2017 Dec 27.

24.

Novel GRN mutation presenting as an aphasic dementia and evolving into corticobasal syndrome.

Botha H, Finch NA, Gavrilova RH, Machulda MM, Fields JA, Lowe VJ, Petersen RC, Jack CR Jr, Dheel CM, Gearhart DJ, Knopman DS, Rademakers R, Boeve BF.

Neurol Genet. 2017 Dec 11;3(6):e201. doi: 10.1212/NXG.0000000000000201. eCollection 2017 Dec. No abstract available.

25.

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.

26.

TMEM106B and myelination: rare leukodystrophy families reveal unexpected connections.

Zhou X, Rademakers R.

Brain. 2017 Dec 1;140(12):3069-3080. doi: 10.1093/brain/awx318. No abstract available.

PMID:
29194508
27.

Cognitive impairment in progressive supranuclear palsy is associated with tau burden.

Koga S, Parks A, Kasanuki K, Sanchez-Contreras M, Baker MC, Josephs KA, Ahlskog JE, Uitti RJ, Graff-Radford N, van Gerpen JA, Wszolek ZK, Rademakers R, Dickson DW.

Mov Disord. 2017 Dec;32(12):1772-1779. doi: 10.1002/mds.27198. Epub 2017 Oct 30.

PMID:
29082658
28.

Disease and Region Specificity of Granulin Immunopositivities in Alzheimer Disease and Frontotemporal Lobar Degeneration.

Mao Q, Wang D, Li Y, Kohler M, Wilson J, Parton Z, Shmaltsuyeva B, Gursel D, Rademakers R, Weintraub S, Mesulam MM, Xia H, Bigio EH.

J Neuropathol Exp Neurol. 2017 Nov 1;76(11):957-968. doi: 10.1093/jnen/nlx085.

PMID:
29044416
29.

Lipidomic and Transcriptomic Basis of Lysosomal Dysfunction in Progranulin Deficiency.

Evers BM, Rodriguez-Navas C, Tesla RJ, Prange-Kiel J, Wasser CR, Yoo KS, McDonald J, Cenik B, Ravenscroft TA, Plattner F, Rademakers R, Yu G, White CL 3rd, Herz J.

Cell Rep. 2017 Sep 12;20(11):2565-2574. doi: 10.1016/j.celrep.2017.08.056.

30.

Detection of long repeat expansions from PCR-free whole-genome sequence data.

Dolzhenko E, van Vugt JJFA, Shaw RJ, Bekritsky MA, van Blitterswijk M, Narzisi G, Ajay SS, Rajan V, Lajoie BR, Johnson NH, Kingsbury Z, Humphray SJ, Schellevis RD, Brands WJ, Baker M, Rademakers R, Kooyman M, Tazelaar GHP, van Es MA, McLaughlin R, Sproviero W, Shatunov A, Jones A, Al Khleifat A, Pittman A, Morgan S, Hardiman O, Al-Chalabi A, Shaw C, Smith B, Neo EJ, Morrison K, Shaw PJ, Reeves C, Winterkorn L, Wexler NS; US–Venezuela Collaborative Research Group, Housman DE, Ng CW, Li AL, Taft RJ, van den Berg LH, Bentley DR, Veldink JH, Eberle MA.

Genome Res. 2017 Nov;27(11):1895-1903. doi: 10.1101/gr.225672.117. Epub 2017 Sep 8.

31.

DCTN1 variation in pathologically-confirmed PSP and CBD tauopathy.

Sanchez-Contreras M, Soto AI, Walton RL, Wszolek ZK, Dickson DW, Ross OA, Rademakers R.

Parkinsonism Relat Disord. 2017 Nov;44:151-153. doi: 10.1016/j.parkreldis.2017.08.027. Epub 2017 Aug 30. No abstract available.

PMID:
28867162
32.

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.

33.

Conserved DNA methylation combined with differential frontal cortex and cerebellar expression distinguishes C9orf72-associated and sporadic ALS, and implicates SERPINA1 in disease.

Ebbert MTW, Ross CA, Pregent LJ, Lank RJ, Zhang C, Katzman RB, Jansen-West K, Song Y, da Rocha EL, Palmucci C, Desaro P, Robertson AE, Caputo AM, Dickson DW, Boylan KB, Rademakers R, Ordog T, Li H, Belzil VV.

Acta Neuropathol. 2017 Nov;134(5):715-728. doi: 10.1007/s00401-017-1760-4. Epub 2017 Aug 14.

PMID:
28808785
34.

Brain calcifications and PCDH12 variants.

Nicolas G, Sanchez-Contreras M, Ramos EM, Lemos RR, Ferreira J, Moura D, Sobrido MJ, Richard AC, Lopez AR, Legati A, Deleuze JF, Boland A, Quenez O, Krystkowiak P, Favrole P, Geschwind DH, Aran A, Segel R, Levy-Lahad E, Dickson DW, Coppola G, Rademakers R, de Oliveira JRM.

Neurol Genet. 2017 Jul 26;3(4):e166. doi: 10.1212/NXG.0000000000000166. eCollection 2017 Aug.

35.

Abnormal expression of homeobox genes and transthyretin in C9ORF72 expansion carriers.

Finch NA, Wang X, Baker MC, Heckman MG, Gendron TF, Bieniek KF, Wuu J, DeJesus-Hernandez M, Brown PH, Chew J, Jansen-West KR, Daughrity LM, Nicholson AM, Murray ME, Josephs KA, Parisi JE, Knopman DS, Petersen RC, Petrucelli L, Boeve BF, Graff-Radford NR, Asmann YW, Dickson DW, Benatar M, Bowser R, Boylan KB, Rademakers R, van Blitterswijk M.

Neurol Genet. 2017 Jun 7;3(4):e161. doi: 10.1212/NXG.0000000000000161. eCollection 2017 Aug.

36.

Repetitive element transcripts are elevated in the brain of C9orf72 ALS/FTLD patients.

Prudencio M, Gonzales PK, Cook CN, Gendron TF, Daughrity LM, Song Y, Ebbert MTW, van Blitterswijk M, Zhang YJ, Jansen-West K, Baker MC, DeTure M, Rademakers R, Boylan KB, Dickson DW, Petrucelli L, Link CD.

Hum Mol Genet. 2017 Sep 1;26(17):3421-3431. doi: 10.1093/hmg/ddx233.

37.

In-depth clinico-pathological examination of RNA foci in a large cohort of C9ORF72 expansion carriers.

DeJesus-Hernandez M, Finch NA, Wang X, Gendron TF, Bieniek KF, Heckman MG, Vasilevich A, Murray ME, Rousseau L, Weesner R, Lucido A, Parsons M, Chew J, Josephs KA, Parisi JE, Knopman DS, Petersen RC, Boeve BF, Graff-Radford NR, de Boer J, Asmann YW, Petrucelli L, Boylan KB, Dickson DW, van Blitterswijk M, Rademakers R.

Acta Neuropathol. 2017 Aug;134(2):255-269. doi: 10.1007/s00401-017-1725-7. Epub 2017 May 15.

38.

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.

39.

Shared genetic risk between corticobasal degeneration, progressive supranuclear palsy, and frontotemporal dementia.

Yokoyama JS, Karch CM, Fan CC, Bonham LW, Kouri N, Ross OA, Rademakers R, Kim J, Wang Y, Höglinger GU, Müller U, Ferrari R, Hardy J; International FTD-Genomics Consortium (IFGC), Momeni P, Sugrue LP, Hess CP, James Barkovich A, Boxer AL, Seeley WW, Rabinovici GD, Rosen HJ, Miller BL, Schmansky NJ, Fischl B, Hyman BT, Dickson DW, Schellenberg GD, Andreassen OA, Dale AM, Desikan RS.

Acta Neuropathol. 2017 May;133(5):825-837. doi: 10.1007/s00401-017-1693-y. Epub 2017 Mar 7.

40.

ATXN2 trinucleotide repeat length correlates with risk of ALS.

Sproviero W, Shatunov A, Stahl D, Shoai M, van Rheenen W, Jones AR, Al-Sarraj S, Andersen PM, Bonini NM, Conforti FL, Van Damme P, Daoud H, Del Mar Amador M, Fogh I, Forzan M, Gaastra B, Gellera C, Gitler AD, Hardy J, Fratta P, La Bella V, Le Ber I, Van Langenhove T, Lattante S, Lee YC, Malaspina A, Meininger V, Millecamps S, Orrell R, Rademakers R, Robberecht W, Rouleau G, Ross OA, Salachas F, Sidle K, Smith BN, Soong BW, Sorarù G, Stevanin G, Kabashi E, Troakes C, van Broeckhoven C, Veldink JH, van den Berg LH, Shaw CE, Powell JF, Al-Chalabi A.

Neurobiol Aging. 2017 Mar;51:178.e1-178.e9. doi: 10.1016/j.neurobiolaging.2016.11.010. Epub 2016 Nov 24.

41.

Distribution and characteristics of transactive response DNA binding protein 43 kDa pathology in progressive supranuclear palsy.

Koga S, Sanchez-Contreras M, Josephs KA, Uitti RJ, Graff-Radford N, van Gerpen JA, Cheshire WP, Wszolek ZK, Rademakers R, Dickson DW.

Mov Disord. 2017 Feb;32(2):246-255. doi: 10.1002/mds.26809. Epub 2016 Dec 23.

42.

Dementia Research-A Roadmap for the Next Decade.

Traynor BJ, Rademakers R.

JAMA Neurol. 2017 Feb 1;74(2):141-142. doi: 10.1001/jamaneurol.2016.5004. No abstract available.

43.

Clinicopathologic heterogeneity in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) due to microtubule-associated protein tau (MAPT) p.P301L mutation, including a patient with globular glial tauopathy.

Tacik P, Sanchez-Contreras M, DeTure M, Murray ME, Rademakers R, Ross OA, Wszolek ZK, Parisi JE, Knopman DS, Petersen RC, Dickson DW.

Neuropathol Appl Neurobiol. 2017 Apr;43(3):200-214. doi: 10.1111/nan.12367. Epub 2017 Mar 8.

44.

Assessment of Olfactory Function in MAPT-Associated Neurodegenerative Disease Reveals Odor-Identification Irreproducibility as a Non-Disease-Specific, General Characteristic of Olfactory Dysfunction.

Markopoulou K, Chase BA, Robowski P, Strongosky A, Narożańska E, Sitek EJ, Berdynski M, Barcikowska M, Baker MC, Rademakers R, Sławek J, Klein C, Hückelheim K, Kasten M, Wszolek ZK.

PLoS One. 2016 Nov 17;11(11):e0165112. doi: 10.1371/journal.pone.0165112. eCollection 2016.

45.

Increased prevalence of autoimmune disease within C9 and FTD/MND cohorts: Completing the picture.

Miller ZA, Sturm VE, Camsari GB, Karydas A, Yokoyama JS, Grinberg LT, Boxer AL, Rosen HJ, Rankin KP, Gorno-Tempini ML, Coppola G, Geschwind DH, Rademakers R, Seeley WW, Graff-Radford NR, Miller BL.

Neurol Neuroimmunol Neuroinflamm. 2016 Oct 28;3(6):e301. eCollection 2016 Dec.

46.

What we know about TMEM106B in neurodegeneration.

Nicholson AM, Rademakers R.

Acta Neuropathol. 2016 Nov;132(5):639-651. Epub 2016 Aug 20. Review.

47.

Modifiers of LRRK2 parkinsonism: new therapeutic targets.

Ross OA, Rademakers R.

Lancet Neurol. 2016 Nov;15(12):1200-1201. doi: 10.1016/S1474-4422(16)30243-5. Epub 2016 Sep 28. No abstract available.

PMID:
27692901
48.

Study of LRRK2 variation in tauopathy: Progressive supranuclear palsy and corticobasal degeneration.

Sanchez-Contreras M, Heckman MG, Tacik P, Diehl N, Brown PH, Soto-Ortolaza AI, Christopher EA, Walton RL, Ross OA, Golbe LI, Graff-Radford N, Wszolek ZK, Dickson DW, Rademakers R.

Mov Disord. 2017 Jan;32(1):115-123. doi: 10.1002/mds.26815. Epub 2016 Oct 6.

49.

Primary familial brain calcification in the 'IBGC2' kindred: All linkage roads lead to SLC20A2.

Grütz K, Volpato CB, Domingo A, Alvarez-Fischer D, Gebert U, Schifferle G, Buffone E, Wszolek ZK, Rademakers R, Ferbert A, Hicks AA, Klein C, Pramstaller PP, Westenberger A.

Mov Disord. 2016 Dec;31(12):1901-1904. doi: 10.1002/mds.26768. Epub 2016 Sep 27.

PMID:
27671522
50.

TYROBP genetic variants in early-onset Alzheimer's disease.

Pottier C, Ravenscroft TA, Brown PH, Finch NA, Baker M, Parsons M, Asmann YW, Ren Y, Christopher E, Levitch D, van Blitterswijk M, Cruchaga C, Campion D, Nicolas G, Richard AC, Guerreiro R, Bras JT, Zuchner S, Gonzalez MA, Bu G, Younkin S, Knopman DS, Josephs KA, Parisi JE, Petersen RC, Ertekin-Taner N, Graff-Radford NR, Boeve BF, Dickson DW, Rademakers R.

Neurobiol Aging. 2016 Dec;48:222.e9-222.e15. doi: 10.1016/j.neurobiolaging.2016.07.028. Epub 2016 Aug 8.

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