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Items: 1 to 50 of 327

1.

Rates of lobar atrophy in asymptomatic MAPT mutation carriers.

Chen Q, Boeve BF, Senjem M, Tosakulwong N, Lesnick TG, Brushaber D, Dheel C, Fields J, Forsberg L, Gavrilova R, Gearhart D, Graff-Radford J, Graff-Radford NR, Jack CR Jr, Jones DT, Knopman DS, Kremers WK, Lapid M, Rademakers R, Syrjanen J, Boxer AL, Rosen H, Wszolek ZK, Kantarci K; LEFFTDS Consortium.

Alzheimers Dement (N Y). 2019 Jul 30;5:338-346. doi: 10.1016/j.trci.2019.05.010. eCollection 2019.

2.

FTLD-TDP With and Without GRN Mutations Cause Different Patterns of CA1 Pathology.

Mao Q, Zheng X, Gefen T, Rogalski E, Spencer CL, Rademakers R, Fought AJ, Kohler M, Weintraub S, Xia H, Mesulam MM, Bigio EH.

J Neuropathol Exp Neurol. 2019 Jul 30. pii: nlz059. doi: 10.1093/jnen/nlz059. [Epub ahead of print]

PMID:
31361008
3.

Reply: LATE to the PART-y.

Nelson PT, Dickson DW, Trojanowski JQ, Jack CR, Boyle PA, Arfanakis K, Rademakers R, Alafuzoff I, Attems J, Brayne C, Coyle-Gilchrist ITS, Fardo DW, Flanagan ME, Halliday G, Hunter S, Jicha GA, Katsumata Y, Kawas CH, Keene CD, Kovacs GG, Kukull WA, Levey AI, Makkinejad N, Montine TJ, Murray ME, Nag S, Seeley WW, Sperling RA, White CL, Schneider JA.

Brain. 2019 Jul 29. pii: awz226. doi: 10.1093/brain/awz226. [Epub ahead of print] No abstract available.

PMID:
31359039
4.

Frontal lobe 1H MR spectroscopy in asymptomatic and symptomatic MAPT mutation carriers.

Chen Q, Boeve BF, Tosakulwong N, Lesnick T, Brushaber D, Dheel C, Fields J, Forsberg L, Gavrilova R, Gearhart D, Haley D, Gunter JL, Graff-Radford J, Jones D, Knopman D, Graff-Radford N, Kraft R, Lapid M, Rademakers R, Syrjanen J, Wszolek ZK, Rosen H, Boxer AL, Kantarci K.

Neurology. 2019 Aug 20;93(8):e758-e765. doi: 10.1212/WNL.0000000000007961. Epub 2019 Jul 17.

PMID:
31315971
5.

Individualized atrophy scores predict dementia onset in familial frontotemporal lobar degeneration.

Staffaroni AM, Cobigo Y, Goh SM, Kornak J, Bajorek L, Chiang K, Appleby B, Bove J, Bordelon Y, Brannelly P, Brushaber D, Caso C, Coppola G, Dever R, 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, Heuer HW, Hsiung GY, Huey ED, Irwin DJ, Jones DT, Jones L, Kantarci K, Karydas A, Kaufer DI, Kerwin DR, Knopman DS, Kraft R, Kramer JH, Kremers WK, Kukull WA, Litvan I, Ljubenkov PA, 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, Rosen HJ; ARTFL/LEFFTDS consortium.

Alzheimers Dement. 2019 Jul 1. pii: S1552-5260(19)30111-6. doi: 10.1016/j.jalz.2019.04.007. [Epub ahead of print]

6.

C-terminal and full length TDP-43 specie differ according to FTLD-TDP lesion type but not genetic mutation.

Josephs KA, Zhang YJ, Baker M, Rademakers R, Petrucelli L, Dickson DW.

Acta Neuropathol Commun. 2019 Jul 2;7(1):100. doi: 10.1186/s40478-019-0755-x.

7.

Clinicopathologic correlations in a family with a TBK1 mutation presenting as primary progressive aphasia and primary lateral sclerosis.

Hirsch-Reinshagen V, Alfaify OA, Hsiung GR, Pottier C, Baker M, Perkerson RB 3rd, Rademakers R, Briemberg H, Foti DJ, Mackenzie IR.

Amyotroph Lateral Scler Frontotemporal Degener. 2019 Jun 27:1-8. doi: 10.1080/21678421.2019.1632347. [Epub ahead of print]

PMID:
31244341
8.

Coexistence of Progressive Supranuclear Palsy With Pontocerebellar Atrophy and Myotonic Dystrophy Type 1.

Koga S, Eric Ahlskog J, DeTure MA, Baker M, Roemer SF, Konno T, Rademakers R, Ross OA, Dickson DW.

J Neuropathol Exp Neurol. 2019 May 24. pii: nlz048. doi: 10.1093/jnen/nlz048. [Epub ahead of print]

PMID:
31216016
9.

Brain MR Spectroscopy Changes Precede Frontotemporal Lobar Degeneration Phenoconversion in Mapt Mutation Carriers.

Chen Q, Boeve BF, Tosakulwong N, Lesnick T, Brushaber D, Dheel C, Fields J, Forsberg L, Gavrilova R, Gearhart D, Haley D, Gunter JL, Graff-Radford J, Jones D, Knopman D, Graff-Radford N, Kraft R, Lapid M, Rademakers R, Wszolek ZK, Rosen H, Boxer AL, Kantarci K.

J Neuroimaging. 2019 Jun 7. doi: 10.1111/jon.12642. [Epub ahead of print]

PMID:
31173437
10.

A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer's disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity.

van der Lee SJ, Conway OJ, Jansen I, Carrasquillo MM, Kleineidam L, van den Akker E, Hernández I, van Eijk KR, Stringa N, Chen JA, Zettergren A, Andlauer TFM, Diez-Fairen M, Simon-Sanchez J, Lleó A, Zetterberg H, Nygaard M, Blauwendraat C, Savage JE, Mengel-From J, Moreno-Grau S, Wagner M, Fortea J, Keogh MJ, Blennow K, Skoog I, Friese MA, Pletnikova O, Zulaica M, Lage C, de Rojas I, Riedel-Heller S, Illán-Gala I, Wei W, Jeune B, Orellana A, Then Bergh F, Wang X, Hulsman M, Beker N, Tesi N, Morris CM, Indakoetxea B, Collij LE, Scherer M, Morenas-Rodríguez E, Ironside JW, van Berckel BNM, Alcolea D, Wiendl H, Strickland SL, Pastor P, Rodríguez Rodríguez E; DESGESCO (Dementia Genetics Spanish Consortium), EADB (Alzheimer Disease European DNA biobank); EADB (Alzheimer Disease European DNA biobank); IFGC (International FTD-Genomics Consortium), IPDGC (The International Parkinson Disease Genomics Consortium); IPDGC (The International Parkinson Disease Genomics Consortium); RiMod-FTD (Risk and Modifying factors in Fronto-Temporal Dementia); Netherlands Brain Bank (NBB), Boeve BF, Petersen RC, Ferman TJ, van Gerpen JA, Reinders MJT, Uitti RJ, Tárraga L, Maier W, Dols-Icardo O, Kawalia A, Dalmasso MC, Boada M, Zettl UK, van Schoor NM, Beekman M, Allen M, Masliah E, de Munain AL, Pantelyat A, Wszolek ZK, Ross OA, Dickson DW, Graff-Radford NR, Knopman D, Rademakers R, Lemstra AW, Pijnenburg YAL, Scheltens P, Gasser T, Chinnery PF, Hemmer B, Huisman MA, Troncoso J, Moreno F, Nohr EA, Sørensen TIA, Heutink P, Sánchez-Juan P, Posthuma D; GIFT (Genetic Investigation in Frontotemporal Dementia and Alzheimer’s Disease) Study Group, Clarimón J, Christensen K, Ertekin-Taner N, Scholz SW, Ramirez A, Ruiz A, Slagboom E, van der Flier WM, Holstege H.

Acta Neuropathol. 2019 Aug;138(2):237-250. doi: 10.1007/s00401-019-02026-8. Epub 2019 May 27.

11.

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.

12.

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]

13.

Gyrification abnormalities in presymptomatic c9orf72 expansion carriers.

Caverzasi E, Battistella G, Chu SA, Rosen H, Zanto TP, Karydas A, Shwe W, Coppola G, Geschwind DH, Rademakers R, Miller BL, Gorno-Tempini ML, Lee SE.

J Neurol Neurosurg Psychiatry. 2019 Sep;90(9):1005-1010. doi: 10.1136/jnnp-2018-320265. Epub 2019 May 11.

14.

Revisiting the utility of TDP-43 immunoreactive (TDP-43-ir) pathology to classify FTLD-TDP subtypes.

Nishihira Y, Gefen T, Mao Q, Appin C, Kohler M, Walker J, Rademakers R, Rademaker A, Rogalski E, Weintraub S, Geula C, Mesulam MM, Bigio EH.

Acta Neuropathol. 2019 Jul;138(1):167-169. doi: 10.1007/s00401-019-02024-w. Epub 2019 May 7. No abstract available.

PMID:
31065833
15.

Limbic-predominant age-related TDP-43 encephalopathy (LATE): consensus working group report.

Nelson PT, Dickson DW, Trojanowski JQ, Jack CR, Boyle PA, Arfanakis K, Rademakers R, Alafuzoff I, Attems J, Brayne C, Coyle-Gilchrist ITS, Chui HC, Fardo DW, Flanagan ME, Halliday G, Hokkanen SRK, Hunter S, Jicha GA, Katsumata Y, Kawas CH, Keene CD, Kovacs GG, Kukull WA, Levey AI, Makkinejad N, Montine TJ, Murayama S, Murray ME, Nag S, Rissman RA, Seeley WW, Sperling RA, White Iii CL, Yu L, Schneider JA.

Brain. 2019 Jun 1;142(6):1503-1527. doi: 10.1093/brain/awz099. Erratum in: Brain. 2019 May 31;:.

16.

CSF1R mutation presenting as dementia with Lewy bodies.

Sharma R, Graff-Radford J, Rademakers R, Boeve BF, Petersen RC, Jones DT.

Neurocase. 2019 Feb - Apr;25(1-2):17-20. doi: 10.1080/13554794.2019.1601230. Epub 2019 Apr 10.

PMID:
30968732
17.

Thalamo-cortical network hyperconnectivity in preclinical progranulin mutation carriers.

Lee SE, Sias AC, Kosik EL, Flagan TM, Deng J, Chu SA, Brown JA, Vidovszky AA, Ramos EM, Gorno-Tempini ML, Karydas AM, Coppola G, Geschwind DH, Rademakers R, Boeve BF, Boxer AL, Rosen HJ, Miller BL, Seeley WW.

Neuroimage Clin. 2019;22:101751. doi: 10.1016/j.nicl.2019.101751. Epub 2019 Mar 16.

18.

Preferential Disruption of Auditory Word Representations in Primary Progressive Aphasia With the Neuropathology of FTLD-TDP Type A.

Mesulam MM, Nelson MJ, Hyun J, Rader B, Hurley RS, Rademakers R, Baker MC, Bigio EH, Weintraub S.

Cogn Behav Neurol. 2019 Mar;32(1):46-53. doi: 10.1097/WNN.0000000000000180.

PMID:
30896577
19.

Association of MAPT Subhaplotypes With Risk of Progressive Supranuclear Palsy and Severity of Tau Pathology.

Heckman MG, Brennan RR, Labbé C, Soto AI, Koga S, DeTure MA, Murray ME, Petersen RC, Boeve BF, van Gerpen JA, Uitti RJ, Wszolek ZK, Rademakers R, Dickson DW, Ross OA.

JAMA Neurol. 2019 Jun 1;76(6):710-717. doi: 10.1001/jamaneurol.2019.0250.

PMID:
30882841
20.

Ossified blood vessels in primary familial brain calcification elicit a neurotoxic astrocyte response.

Zarb Y, Weber-Stadlbauer U, Kirschenbaum D, Kindler DR, Richetto J, Keller D, Rademakers R, Dickson DW, Pasch A, Byzova T, Nahar K, Voigt FF, Helmchen F, Boss A, Aguzzi A, Klohs J, Keller A.

Brain. 2019 Apr 1;142(4):885-902. doi: 10.1093/brain/awz032.

21.

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.

22.

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
23.

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.

24.

Pathological, imaging and genetic characteristics support the existence of distinct TDP-43 types in non-FTLD brains.

Josephs KA, Murray ME, Tosakulwong N, Weigand SD, Serie AM, Perkerson RB, Matchett BJ, Jack CR Jr, Knopman DS, Petersen RC, Parisi JE, Petrucelli L, Baker M, Rademakers R, Whitwell JL, Dickson DW.

Acta Neuropathol. 2019 Feb;137(2):227-238. doi: 10.1007/s00401-018-1951-7. Epub 2019 Jan 2.

PMID:
30604226
25.

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.

26.

EIF2AK3 variants in Dutch patients with Alzheimer's disease.

Wong TH, van der Lee SJ, van Rooij JGJ, Meeter LHH, Frick P, Melhem S, Seelaar H, Ikram MA, Rozemuller AJ, Holstege H, Hulsman M, Uitterlinden A, Neumann M, Hoozemans JJM, van Duijn CM, Rademakers R, van Swieten JC.

Neurobiol Aging. 2019 Jan;73:229.e11-229.e18. doi: 10.1016/j.neurobiolaging.2018.08.016. Epub 2018 Aug 24.

27.

A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers.

Zhang M, Ferrari R, Tartaglia MC, Keith J, Surace EI, Wolf U, Sato C, Grinberg M, Liang Y, Xi Z, Dupont K, McGoldrick P, Weichert A, McKeever PM, Schneider R, McCorkindale MD, Manzoni C, Rademakers R, Graff-Radford NR, Dickson DW, Parisi JE, Boeve BF, Petersen RC, Miller BL, Seeley WW, van Swieten JC, van Rooij J, Pijnenburg Y, van der Zee J, Van Broeckhoven C, Le Ber I, Van Deerlin V, Suh E, Rohrer JD, Mead S, Graff C, Öijerstedt L, Pickering-Brown S, Rollinson S, Rossi G, Tagliavini F, Brooks WS, Dobson-Stone C, Halliday GM, Hodges JR, Piguet O, Binetti G, Benussi L, Ghidoni R, Nacmias B, Sorbi S, Bruni AC, Galimberti D, Scarpini E, Rainero I, Rubino E, Clarimon J, Lleó A, Ruiz A, Hernández I, Pastor P, Diez-Fairen M, Borroni B, Pasquier F, Deramecourt V, Lebouvier T, Perneczky R, Diehl-Schmid J, Grafman J, Huey ED, Mayeux R, Nalls MA, Hernandez D, Singleton A, Momeni P, Zeng Z, Hardy J, Robertson J, Zinman L, Rogaeva E; International FTD-Genomics Consortium (IFGC).

Brain. 2018 Oct 1;141(10):2895-2907. doi: 10.1093/brain/awy238.

28.

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.

29.

Three VCP Mutations in Patients with Frontotemporal Dementia.

Wong TH, Pottier C, Hondius DC, Meeter LHH, van Rooij JGJ, Melhem S; Netherlands Brain bank, van Minkelen R, van Duijn CM, Rozemuller AJM, Seelaar H, Rademakers R, van Swieten JC.

J Alzheimers Dis. 2018;65(4):1139-1146. doi: 10.3233/JAD-180301.

PMID:
30103325
30.

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.

31.

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.

32.

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.

33.

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.

34.

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.

35.

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.

36.

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.

37.

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.

38.

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.

39.

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.

40.

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.

41.

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
42.

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.

43.

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.

44.

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.

45.

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.

46.

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.

47.

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.

48.

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.

49.

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.

50.

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.

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