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Items: 1 to 20 of 100

1.

Extended FTLD pedigree segregating a Belgian GRN-null mutation: neuropathological heterogeneity in one family.

Sieben A, Van Mossevelde S, Wauters E, Engelborghs S, van der Zee J, Van Langenhove T, Santens P, Praet M, Boon P, Miatton M, Van Hoecke S, Vandenbulcke M, Vandenberghe R, Cras P, Cruts M, De Deyn PP, Van Broeckhoven C, Martin JJ.

Alzheimers Res Ther. 2018 Jan 22;10(1):7. doi: 10.1186/s13195-017-0334-y.

2.

Investigating the role of filamin C in Belgian patients with frontotemporal dementia linked to GRN deficiency in FTLD-TDP brains.

Janssens J, Philtjens S, Kleinberger G, Van Mossevelde S, van der Zee J, Cacace R, Engelborghs S, Sieben A, Banzhaf-Strathmann J, Dillen L, Merlin C, Cuijt I, Robberecht C, Schmid B, Santens P, Ivanoiu A, Vandenbulcke M, Vandenberghe R, Cras P, De Deyn PP, Martin JJ, Maudsley S, Haass C, Cruts M, Van Broeckhoven C; Belgian Neurology (BELNEU) consortium.

Acta Neuropathol Commun. 2015 Nov 10;3:68. doi: 10.1186/s40478-015-0246-7.

3.

A distinct clinical, neuropsychological and radiological phenotype is associated with progranulin gene mutations in a large UK series.

Beck J, Rohrer JD, Campbell T, Isaacs A, Morrison KE, Goodall EF, Warrington EK, Stevens J, Revesz T, Holton J, Al-Sarraj S, King A, Scahill R, Warren JD, Fox NC, Rossor MN, Collinge J, Mead S.

Brain. 2008 Mar;131(Pt 3):706-20. doi: 10.1093/brain/awm320. Epub 2008 Jan 29.

4.

Mutations in progranulin (GRN) within the spectrum of clinical and pathological phenotypes of frontotemporal dementia.

van Swieten JC, Heutink P.

Lancet Neurol. 2008 Oct;7(10):965-74. doi: 10.1016/S1474-4422(08)70194-7. Epub 2008 Sep 2. Review.

PMID:
18771956
5.

Neuropathological heterogeneity in frontotemporal lobar degeneration with TDP-43 proteinopathy: a quantitative study of 94 cases using principal components analysis.

Armstrong RA, Ellis W, Hamilton RL, Mackenzie IR, Hedreen J, Gearing M, Montine T, Vonsattel JP, Head E, Lieberman AP, Cairns NJ.

J Neural Transm (Vienna). 2010 Feb;117(2):227-39. doi: 10.1007/s00702-009-0350-6. Epub 2009 Dec 10.

7.

A quantitative study of the neuropathology of 32 sporadic and familial cases of frontotemporal lobar degeneration with TDP-43 proteinopathy (FTLD-TDP).

Armstrong RA, Carter D, Cairns NJ.

Neuropathol Appl Neurobiol. 2012 Feb;38(1):25-38. doi: 10.1111/j.1365-2990.2011.01188.x.

8.

Progranulin deficiency induces overactivation of WNT5A expression via TNF-α/NF-κB pathway in peripheral cells from frontotemporal dementia-linked granulin mutation carriers.

Alquézar C, de la Encarnación A, Moreno F, López de Munain A, Martín-Requero Á.

J Psychiatry Neurosci. 2016 Jun;41(4):225-39.

9.

A Novel Loss-of-Function GRN Mutation p.(Tyr229*): Clinical and Neuropathological Features.

Kuuluvainen L, Pöyhönen M, Pasanen P, Siitonen M, Rummukainen J, Tienari PJ, Paetau A, Myllykangas L.

J Alzheimers Dis. 2017;55(3):1167-1174.

PMID:
27767988
10.

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.

11.

Cortical degeneration in frontotemporal lobar degeneration with TDP-43 proteinopathy caused by progranulin gene mutation.

Armstrong RA.

Int J Neurosci. 2014 Dec;124(12):894-903. doi: 10.3109/00207454.2014.890620. Epub 2014 Mar 3.

PMID:
24494724
12.

Frontotemporal dementias: update on recent developments in molecular genetics and neuropathology.

Liscić RM.

Arh Hig Rada Toksikol. 2009 Mar;60(1):117-22. doi: 10.2478/10004-1254-60-2009-1921. Review.

PMID:
19329383
13.

Brain progranulin expression in GRN-associated frontotemporal lobar degeneration.

Chen-Plotkin AS, Xiao J, Geser F, Martinez-Lage M, Grossman M, Unger T, Wood EM, Van Deerlin VM, Trojanowski JQ, Lee VM.

Acta Neuropathol. 2010 Jan;119(1):111-22. doi: 10.1007/s00401-009-0576-2. Epub 2009 Aug 2.

14.

Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease.

Pottier C, Bieniek KF, Finch N, van de Vorst M, Baker M, Perkersen R, Brown P, Ravenscroft T, van Blitterswijk M, Nicholson AM, DeTure M, Knopman DS, Josephs KA, Parisi JE, Petersen RC, Boylan KB, Boeve BF, Graff-Radford NR, Veltman JA, Gilissen C, Murray ME, Dickson DW, Rademakers R.

Acta Neuropathol. 2015 Jul;130(1):77-92. doi: 10.1007/s00401-015-1436-x. Epub 2015 May 6.

15.

Expression of TMEM106B, the frontotemporal lobar degeneration-associated protein, in normal and diseased human brain.

Busch JI, Martinez-Lage M, Ashbridge E, Grossman M, Van Deerlin VM, Hu F, Lee VM, Trojanowski JQ, Chen-Plotkin AS.

Acta Neuropathol Commun. 2013 Jul 11;1:36. doi: 10.1186/2051-5960-1-36.

16.

A Novel Splice-Acceptor Site Mutation in GRN (c.709-2 A>T) Causes Frontotemporal Dementia Spectrum in a Large Family from Southern Italy.

Sassi C, Capozzo R, Gibbs R, Crews C, Zecca C, Arcuti S, Copetti M, Barulli MR, Brescia V, Singleton AB, Logroscino G.

J Alzheimers Dis. 2016 May 30;53(2):475-85. doi: 10.3233/JAD-151170.

17.

The spectrum of mutations in progranulin: a collaborative study screening 545 cases of neurodegeneration.

Yu CE, Bird TD, Bekris LM, Montine TJ, Leverenz JB, Steinbart E, Galloway NM, Feldman H, Woltjer R, Miller CA, Wood EM, Grossman M, McCluskey L, Clark CM, Neumann M, Danek A, Galasko DR, Arnold SE, Chen-Plotkin A, Karydas A, Miller BL, Trojanowski JQ, Lee VM, Schellenberg GD, Van Deerlin VM.

Arch Neurol. 2010 Feb;67(2):161-70. doi: 10.1001/archneurol.2009.328.

18.

No interaction between tau and TDP-43 pathologies in either frontotemporal lobar degeneration or motor neurone disease.

Robinson AC, Thompson JC, Weedon L, Rollinson S, Pickering-Brown S, Snowden JS, Davidson YS, Mann DM.

Neuropathol Appl Neurobiol. 2014 Dec;40(7):844-54. doi: 10.1111/nan.12155.

PMID:
24861427
19.

Neuropathologic diagnostic and nosologic criteria for frontotemporal lobar degeneration: consensus of the Consortium for Frontotemporal Lobar Degeneration.

Cairns NJ, Bigio EH, Mackenzie IR, Neumann M, Lee VM, Hatanpaa KJ, White CL 3rd, Schneider JA, Grinberg LT, Halliday G, Duyckaerts C, Lowe JS, Holm IE, Tolnay M, Okamoto K, Yokoo H, Murayama S, Woulfe J, Munoz DG, Dickson DW, Ince PG, Trojanowski JQ, Mann DM; Consortium for Frontotemporal Lobar Degeneration.

Acta Neuropathol. 2007 Jul;114(1):5-22. Epub 2007 Jun 20.

20.

Tau pathology in frontotemporal lobar degeneration with C9ORF72 hexanucleotide repeat expansion.

Bieniek KF, Murray ME, Rutherford NJ, Castanedes-Casey M, DeJesus-Hernandez M, Liesinger AM, Baker MC, Boylan KB, Rademakers R, Dickson DW.

Acta Neuropathol. 2013 Feb;125(2):289-302. doi: 10.1007/s00401-012-1048-7. Epub 2012 Sep 28.

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