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Items: 35

1.

Refining the Spectrum of Neuronal Intranuclear Inclusion Disease: A Case Report.

Cupidi C, Dijkstra AA, Melhem S, Vernooij MW, Severijnen LA, Hukema RK, Rozemuller AJM, Neumann M, van Swieten JC, Seelaar H.

J Neuropathol Exp Neurol. 2019 Jul 1;78(7):665-670. doi: 10.1093/jnen/nlz043.

PMID:
31150092
2.

Clinical value of cerebrospinal fluid neurofilament light chain in semantic dementia.

Meeter LHH, Steketee RME, Salkovic D, Vos ME, Grossman M, McMillan CT, Irwin DJ, Boxer AL, Rojas JC, Olney NT, Karydas A, Miller BL, Pijnenburg YAL, Barkhof F, Sánchez-Valle R, Lladó A, Borrego-Ecija S, Diehl-Schmid J, Grimmer T, Goldhardt O, Santillo AF, Hansson O, Vestberg S, Borroni B, Padovani A, Galimberti D, Scarpini E, Rohrer JD, Woollacott IOC, Synofzik M, Wilke C, de Mendonca A, Vandenberghe R, Benussi L, Ghidoni R, Binetti G, Niessen WJ, Papma JM, Seelaar H, Jiskoot LC, de Jong FJ, Donker Kaat L, Del Campo M, Teunissen CE, Bron EE, Van den Berg E, Van Swieten JC.

J Neurol Neurosurg Psychiatry. 2019 May 23. pii: jnnp-2018-319784. doi: 10.1136/jnnp-2018-319784. [Epub ahead of print]

3.

Novel CSF biomarkers in genetic frontotemporal dementia identified by proteomics.

van der Ende EL, Meeter LH, Stingl C, van Rooij JGJ, Stoop MP, Nijholt DAT, Sanchez-Valle R, Graff C, Öijerstedt L, Grossman M, McMillan C, Pijnenburg YAL, Laforce R Jr, Binetti G, Benussi L, Ghidoni R, Luider TM, Seelaar H, van Swieten JC.

Ann Clin Transl Neurol. 2019 Mar 7;6(4):698-707. doi: 10.1002/acn3.745. eCollection 2019 Apr.

4.

HR23B pathology preferentially co-localizes with p62, pTDP-43 and poly-GA in C9ORF72-linked frontotemporal dementia and amyotrophic lateral sclerosis.

Riemslagh FW, Lans H, Seelaar H, Severijnen LWFM, Melhem S, Vermeulen W, Aronica E, Pasterkamp RJ, van Swieten JC, Willemsen R.

Acta Neuropathol Commun. 2019 Mar 13;7(1):39. doi: 10.1186/s40478-019-0694-6.

5.

Genetic screening in early-onset Alzheimer's disease identified three novel presenilin mutations.

Wong TH, Seelaar H, Melhem S, Rozemuller AJM, van Swieten JC.

Neurobiol Aging. 2019 Jan 29. pii: S0197-4580(19)30029-6. doi: 10.1016/j.neurobiolaging.2019.01.015. [Epub ahead of print]

PMID:
30797548
6.

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
7.

Neuropsychiatric Symptoms Complicating the Diagnosis of Alzheimer's Disease: A Case Report.

Eikelboom WS, van Rooij JGJ, van den Berg E, Coesmans M, Jiskoot LC, Singleton E, Ossenkoppele R, van Swieten JC, Seelaar H, Papma JM.

J Alzheimers Dis. 2018;66(4):1363-1369. doi: 10.3233/JAD-180700.

PMID:
30412494
8.

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.

9.

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.

10.

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
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.

Cerebral blood flow in presymptomatic MAPT and GRN mutation carriers: A longitudinal arterial spin labeling study.

Dopper EG, Chalos V, Ghariq E, den Heijer T, Hafkemeijer A, Jiskoot LC, de Koning I, Seelaar H, van Minkelen R, van Osch MJ, Rombouts SA, van Swieten JC.

Neuroimage Clin. 2016 Aug 3;12:460-5. doi: 10.1016/j.nicl.2016.08.001. eCollection 2016.

13.

Structural and functional brain connectivity in presymptomatic familial frontotemporal dementia.

Dopper EG, Rombouts SA, Jiskoot LC, den Heijer T, de Graaf JR, de Koning I, Hammerschlag AR, Seelaar H, Seeley WW, Veer IM, van Buchem MA, Rizzu P, van Swieten JC.

Neurology. 2014 Jul 8;83(2):e19-26. doi: 10.1212/WNL.0000000000000583.

PMID:
25002573
14.

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.

15.

PRKAR1B mutation associated with a new neurodegenerative disorder with unique pathology.

Wong TH, Chiu WZ, Breedveld GJ, Li KW, Verkerk AJ, Hondius D, Hukema RK, Seelaar H, Frick P, Severijnen LA, Lammers GJ, Lebbink JH, van Duinen SG, Kamphorst W, Rozemuller AJ; Netherlands Brain Bank, Bakker EB; International Parkinsonism Genetics Network, Neumann M, Willemsen R, Bonifati V, Smit AB, van Swieten J.

Brain. 2014 May;137(Pt 5):1361-73. doi: 10.1093/brain/awu067. Epub 2014 Apr 9. Erratum in: Brain. 2015 Feb;138(Pt 2):e331.

PMID:
24722252
16.

Structural and functional brain connectivity in presymptomatic familial frontotemporal dementia.

Dopper EG, Rombouts SA, Jiskoot LC, Heijer Td, de Graaf JR, Koning Id, Hammerschlag AR, Seelaar H, Seeley WW, Veer IM, van Buchem MA, Rizzu P, van Swieten JC.

Neurology. 2013 Feb 26;80(9):814-23. doi: 10.1212/WNL.0b013e31828407bc. Epub 2013 Feb 6. Erratum in: Neurology. 2014 Apr 29;82(17):1570.

17.

Episodic memory impairment in frontotemporal dementia; a ⁹⁹mTc- HMPAO SPECT study.

Papma JM, Seelaar H, de Koning I, Hasan D, Reijs A, Valkema R, Prins ND, van Swieten JC.

Curr Alzheimer Res. 2013 Mar;10(3):332-9.

PMID:
23016870
18.

Midcingulate involvement in progressive supranuclear palsy and tau positive frontotemporal dementia.

Chiu WZ, Papma JM, de Koning I, Donker Kaat L, Seelaar H, Reijs AE, Valkema R, Hasan D, Boon AJ, van Swieten JC.

J Neurol Neurosurg Psychiatry. 2012 Sep;83(9):910-5. doi: 10.1136/jnnp-2011-302035. Epub 2012 Jun 25.

PMID:
22733085
19.

The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions.

Simón-Sánchez J, Dopper EG, Cohn-Hokke PE, Hukema RK, Nicolaou N, Seelaar H, de Graaf JR, de Koning I, van Schoor NM, Deeg DJ, Smits M, Raaphorst J, van den Berg LH, Schelhaas HJ, De Die-Smulders CE, Majoor-Krakauer D, Rozemuller AJ, Willemsen R, Pijnenburg YA, Heutink P, van Swieten JC.

Brain. 2012 Mar;135(Pt 3):723-35. doi: 10.1093/brain/awr353. Epub 2012 Feb 1.

PMID:
22300876
20.

A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD.

Renton AE, Majounie E, Waite A, Simón-Sánchez J, Rollinson S, Gibbs JR, Schymick JC, Laaksovirta H, van Swieten JC, Myllykangas L, Kalimo H, Paetau A, Abramzon Y, Remes AM, Kaganovich A, Scholz SW, Duckworth J, Ding J, Harmer DW, Hernandez DG, Johnson JO, Mok K, Ryten M, Trabzuni D, Guerreiro RJ, Orrell RW, Neal J, Murray A, Pearson J, Jansen IE, Sondervan D, Seelaar H, Blake D, Young K, Halliwell N, Callister JB, Toulson G, Richardson A, Gerhard A, Snowden J, Mann D, Neary D, Nalls MA, Peuralinna T, Jansson L, Isoviita VM, Kaivorinne AL, Hölttä-Vuori M, Ikonen E, Sulkava R, Benatar M, Wuu J, Chiò A, Restagno G, Borghero G, Sabatelli M; ITALSGEN Consortium, Heckerman D, Rogaeva E, Zinman L, Rothstein JD, Sendtner M, Drepper C, Eichler EE, Alkan C, Abdullaev Z, Pack SD, Dutra A, Pak E, Hardy J, Singleton A, Williams NM, Heutink P, Pickering-Brown S, Morris HR, Tienari PJ, Traynor BJ.

Neuron. 2011 Oct 20;72(2):257-68. doi: 10.1016/j.neuron.2011.09.010. Epub 2011 Sep 21.

21.

Symmetrical corticobasal syndrome caused by a novel C.314dup progranulin mutation.

Dopper EG, Seelaar H, Chiu WZ, de Koning I, van Minkelen R, Baker MC, Rozemuller AJ, Rademakers R, van Swieten JC.

J Mol Neurosci. 2011 Nov;45(3):354-8. doi: 10.1007/s12031-011-9626-z. Epub 2011 Aug 24.

22.

Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia.

Rascovsky K, Hodges JR, Knopman D, Mendez MF, Kramer JH, Neuhaus J, van Swieten JC, Seelaar H, Dopper EG, Onyike CU, Hillis AE, Josephs KA, Boeve BF, Kertesz A, Seeley WW, Rankin KP, Johnson JK, Gorno-Tempini ML, Rosen H, Prioleau-Latham CE, Lee A, Kipps CM, Lillo P, Piguet O, Rohrer JD, Rossor MN, Warren JD, Fox NC, Galasko D, Salmon DP, Black SE, Mesulam M, Weintraub S, Dickerson BC, Diehl-Schmid J, Pasquier F, Deramecourt V, Lebert F, Pijnenburg Y, Chow TW, Manes F, Grafman J, Cappa SF, Freedman M, Grossman M, Miller BL.

Brain. 2011 Sep;134(Pt 9):2456-77. doi: 10.1093/brain/awr179. Epub 2011 Aug 2.

23.

Brain perfusion patterns in familial frontotemporal lobar degeneration.

Seelaar H, Papma JM, Garraux G, de Koning I, Reijs AE, Valkema R, Rozemuller AJ, Salmon E, van Swieten JC.

Neurology. 2011 Jul 26;77(4):384-92. doi: 10.1212/WNL.0b013e3182270456. Epub 2011 Jul 13.

PMID:
21753175
24.

Genetic and clinical features of progranulin-associated frontotemporal lobar degeneration.

Chen-Plotkin AS, Martinez-Lage M, Sleiman PM, Hu W, Greene R, Wood EM, Bing S, Grossman M, Schellenberg GD, Hatanpaa KJ, Weiner MF, White CL 3rd, Brooks WS, Halliday GM, Kril JJ, Gearing M, Beach TG, Graff-Radford NR, Dickson DW, Rademakers R, Boeve BF, Pickering-Brown SM, Snowden J, van Swieten JC, Heutink P, Seelaar H, Murrell JR, Ghetti B, Spina S, Grafman J, Kaye JA, Woltjer RL, Mesulam M, Bigio E, Lladó A, Miller BL, Alzualde A, Moreno F, Rohrer JD, Mackenzie IR, Feldman HH, Hamilton RL, Cruts M, Engelborghs S, De Deyn PP, Van Broeckhoven C, Bird TD, Cairns NJ, Goate A, Frosch MP, Riederer PF, Bogdanovic N, Lee VM, Trojanowski JQ, Van Deerlin VM.

Arch Neurol. 2011 Apr;68(4):488-97. doi: 10.1001/archneurol.2011.53.

25.

Optineurin inclusions occur in a minority of TDP-43 positive ALS and FTLD-TDP cases and are rarely observed in other neurodegenerative disorders.

Hortobágyi T, Troakes C, Nishimura AL, Vance C, van Swieten JC, Seelaar H, King A, Al-Sarraj S, Rogelj B, Shaw CE.

Acta Neuropathol. 2011 Apr;121(4):519-27. doi: 10.1007/s00401-011-0813-3. Epub 2011 Mar 1.

PMID:
21360076
26.

Clinical, genetic and pathological heterogeneity of frontotemporal dementia: a review.

Seelaar H, Rohrer JD, Pijnenburg YA, Fox NC, van Swieten JC.

J Neurol Neurosurg Psychiatry. 2011 May;82(5):476-86. doi: 10.1136/jnnp.2010.212225. Epub 2010 Oct 22. Review.

PMID:
20971753
27.

FUS pathology defines the majority of tau- and TDP-43-negative frontotemporal lobar degeneration.

Urwin H, Josephs KA, Rohrer JD, Mackenzie IR, Neumann M, Authier A, Seelaar H, Van Swieten JC, Brown JM, Johannsen P, Nielsen JE, Holm IE; FReJA Consortium, Dickson DW, Rademakers R, Graff-Radford NR, Parisi JE, Petersen RC, Hatanpaa KJ, White CL 3rd, Weiner MF, Geser F, Van Deerlin VM, Trojanowski JQ, Miller BL, Seeley WW, van der Zee J, Kumar-Singh S, Engelborghs S, De Deyn PP, Van Broeckhoven C, Bigio EH, Deng HX, Halliday GM, Kril JJ, Munoz DG, Mann DM, Pickering-Brown SM, Doodeman V, Adamson G, Ghazi-Noori S, Fisher EM, Holton JL, Revesz T, Rossor MN, Collinge J, Mead S, Isaacs AM.

Acta Neuropathol. 2010 Jul;120(1):33-41. doi: 10.1007/s00401-010-0698-6. Epub 2010 May 20.

28.

Survival in progressive supranuclear palsy and frontotemporal dementia.

Chiu WZ, Kaat LD, Seelaar H, Rosso SM, Boon AJ, Kamphorst W, van Swieten JC.

J Neurol Neurosurg Psychiatry. 2010 Apr;81(4):441-5. doi: 10.1136/jnnp.2009.195719.

PMID:
20360166
29.

Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions.

Van Deerlin VM, Sleiman PM, Martinez-Lage M, Chen-Plotkin A, Wang LS, Graff-Radford NR, Dickson DW, Rademakers R, Boeve BF, Grossman M, Arnold SE, Mann DM, Pickering-Brown SM, Seelaar H, Heutink P, van Swieten JC, Murrell JR, Ghetti B, Spina S, Grafman J, Hodges J, Spillantini MG, Gilman S, Lieberman AP, Kaye JA, Woltjer RL, Bigio EH, Mesulam M, Al-Sarraj S, Troakes C, Rosenberg RN, White CL 3rd, Ferrer I, Lladó A, Neumann M, Kretzschmar HA, Hulette CM, Welsh-Bohmer KA, Miller BL, Alzualde A, Lopez de Munain A, McKee AC, Gearing M, Levey AI, Lah JJ, Hardy J, Rohrer JD, Lashley T, Mackenzie IR, Feldman HH, Hamilton RL, Dekosky ST, van der Zee J, Kumar-Singh S, Van Broeckhoven C, Mayeux R, Vonsattel JP, Troncoso JC, Kril JJ, Kwok JB, Halliday GM, Bird TD, Ince PG, Shaw PJ, Cairns NJ, Morris JC, McLean CA, DeCarli C, Ellis WG, Freeman SH, Frosch MP, Growdon JH, Perl DP, Sano M, Bennett DA, Schneider JA, Beach TG, Reiman EM, Woodruff BK, Cummings J, Vinters HV, Miller CA, Chui HC, Alafuzoff I, Hartikainen P, Seilhean D, Galasko D, Masliah E, Cotman CW, Tuñón MT, Martínez MC, Munoz DG, Carroll SL, Marson D, Riederer PF, Bogdanovic N, Schellenberg GD, Hakonarson H, Trojanowski JQ, Lee VM.

Nat Genet. 2010 Mar;42(3):234-9. doi: 10.1038/ng.536. Epub 2010 Feb 14.

30.

Frequency of ubiquitin and FUS-positive, TDP-43-negative frontotemporal lobar degeneration.

Seelaar H, Klijnsma KY, de Koning I, van der Lugt A, Chiu WZ, Azmani A, Rozemuller AJ, van Swieten JC.

J Neurol. 2010 May;257(5):747-53. doi: 10.1007/s00415-009-5404-z. Epub 2009 Nov 28.

31.

Survival profiles of patients with frontotemporal dementia and motor neuron disease.

Hu WT, Seelaar H, Josephs KA, Knopman DS, Boeve BF, Sorenson EJ, McCluskey L, Elman L, Schelhaas HJ, Parisi JE, Kuesters B, Lee VM, Trojanowski JQ, Petersen RC, van Swieten JC, Grossman M.

Arch Neurol. 2009 Nov;66(11):1359-64. doi: 10.1001/archneurol.2009.253.

32.

Variation at GRN 3'-UTR rs5848 is not associated with a risk of frontotemporal lobar degeneration in Dutch population.

Simón-Sánchez J, Seelaar H, Bochdanovits Z, Deeg DJ, van Swieten JC, Heutink P.

PLoS One. 2009 Oct 22;4(10):e7494. doi: 10.1371/journal.pone.0007494.

33.

Distinct genetic forms of frontotemporal dementia.

Seelaar H, Kamphorst W, Rosso SM, Azmani A, Masdjedi R, de Koning I, Maat-Kievit JA, Anar B, Donker Kaat L, Breedveld GJ, Dooijes D, Rozemuller JM, Bronner IF, Rizzu P, van Swieten JC.

Neurology. 2008 Oct 14;71(16):1220-6. doi: 10.1212/01.wnl.0000319702.37497.72. Epub 2008 Aug 13.

PMID:
18703462
34.

TDP-43 pathology in familial frontotemporal dementia and motor neuron disease without Progranulin mutations.

Seelaar H, Schelhaas HJ, Azmani A, Küsters B, Rosso S, Majoor-Krakauer D, de Rijk MC, Rizzu P, ten Brummelhuis M, van Doorn PA, Kamphorst W, Willemsen R, van Swieten JC.

Brain. 2007 May;130(Pt 5):1375-85. Epub 2007 Mar 14.

PMID:
17360763
35.

Progranulin mutations in Dutch familial frontotemporal lobar degeneration.

Bronner IF, Rizzu P, Seelaar H, van Mil SE, Anar B, Azmani A, Donker Kaat L, Rosso S, Heutink P, van Swieten JC.

Eur J Hum Genet. 2007 Mar;15(3):369-74. Epub 2007 Jan 17.

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