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Items: 1 to 20 of 361

1.

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.

2.

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
3.

Common pathobiochemical hallmarks of progranulin-associated frontotemporal lobar degeneration and neuronal ceroid lipofuscinosis.

Götzl JK, Mori K, Damme M, Fellerer K, Tahirovic S, Kleinberger G, Janssens J, van der Zee J, Lang CM, Kremmer E, Martin JJ, Engelborghs S, Kretzschmar HA, Arzberger T, Van Broeckhoven C, Haass C, Capell A.

Acta Neuropathol. 2014;127(6):845-60. doi: 10.1007/s00401-014-1262-6. Epub 2014 Mar 12.

PMID:
24619111
4.

TMEM106B, the risk gene for frontotemporal dementia, is regulated by the microRNA-132/212 cluster and affects progranulin pathways.

Chen-Plotkin AS, Unger TL, Gallagher MD, Bill E, Kwong LK, Volpicelli-Daley L, Busch JI, Akle S, Grossman M, Van Deerlin V, Trojanowski JQ, Lee VM.

J Neurosci. 2012 Aug 15;32(33):11213-27. doi: 10.1523/JNEUROSCI.0521-12.2012.

5.

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.

6.

Early retinal neurodegeneration and impaired Ran-mediated nuclear import of TDP-43 in progranulin-deficient FTLD.

Ward ME, Taubes A, Chen R, Miller BL, Sephton CF, Gelfand JM, Minami S, Boscardin J, Martens LH, Seeley WW, Yu G, Herz J, Filiano AJ, Arrant AE, Roberson ED, Kraft TW, Farese RV Jr, Green A, Gan L.

J Exp Med. 2014 Sep 22;211(10):1937-45. doi: 10.1084/jem.20140214. Epub 2014 Aug 25.

7.

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.

8.

Increasing progranulin levels and blockade of the ERK1/2 pathway: upstream and downstream strategies for the treatment of progranulin deficient frontotemporal dementia.

Alquezar C, Esteras N, de la Encarnación A, Moreno F, López de Munain A, Martín-Requero Á.

Eur Neuropsychopharmacol. 2015 Mar;25(3):386-403. doi: 10.1016/j.euroneuro.2014.12.007. Epub 2015 Jan 5.

PMID:
25624003
9.

Reduced Tau protein expression is associated with frontotemporal degeneration with progranulin mutation.

Papegaey A, Eddarkaoui S, Deramecourt V, Fernandez-Gomez FJ, Pantano P, Obriot H, Machala C, Anquetil V, Camuzat A, Brice A, Maurage CA, Le Ber I, Duyckaerts C, Buée L, Sergeant N, Buée-Scherrer V.

Acta Neuropathol Commun. 2016 Jul 19;4(1):74. doi: 10.1186/s40478-016-0345-0.

10.

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.

11.

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.

12.

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.

13.

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
14.

Clinical, neuropathological, and genetic characteristics of the novel IVS9+1delG GRN mutation in a patient with frontotemporal dementia.

Taipa R, Tuna A, Damásio J, Pinto PS, Cavaco S, Pereira S, Milterberger-Miltenyi G, Galimberti D, Melo-Pires M.

J Alzheimers Dis. 2012;30(1):83-90. doi: 10.3233/JAD-2012-112084.

PMID:
22366770
15.

Plasma phosphorylated TDP-43 levels are elevated in patients with frontotemporal dementia carrying a C9orf72 repeat expansion or a GRN mutation.

Suárez-Calvet M, Dols-Icardo O, Lladó A, Sánchez-Valle R, Hernández I, Amer G, Antón-Aguirre S, Alcolea D, Fortea J, Ferrer I, van der Zee J, Dillen L, Van Broeckhoven C, Molinuevo JL, Blesa R, Clarimón J, Lleó A.

J Neurol Neurosurg Psychiatry. 2014 Jun;85(6):684-91. doi: 10.1136/jnnp-2013-305972. Epub 2013 Dec 4.

PMID:
24309270
16.

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
17.

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.

18.

Cellular ageing, increased mortality and FTLD-TDP-associated neuropathology in progranulin knockout mice.

Wils H, Kleinberger G, Pereson S, Janssens J, Capell A, Van Dam D, Cuijt I, Joris G, De Deyn PP, Haass C, Van Broeckhoven C, Kumar-Singh S.

J Pathol. 2012 Sep;228(1):67-76. doi: 10.1002/path.4043. Epub 2012 Jun 25.

PMID:
22733568
19.

Clinical features of TBK1 carriers compared with C9orf72, GRN and non-mutation carriers in a Belgian cohort.

Van Mossevelde S, van der Zee J, Gijselinck I, Engelborghs S, Sieben A, Van Langenhove T, De Bleecker J, Baets J, Vandenbulcke M, Van Laere K, Ceyssens S, Van den Broeck M, Peeters K, Mattheijssens M, Cras P, Vandenberghe R, De Jonghe P, Martin JJ, De Deyn PP, Cruts M, Van Broeckhoven C; Belgian Neurology consortium.

Brain. 2016 Feb;139(Pt 2):452-67. doi: 10.1093/brain/awv358. Epub 2015 Dec 15.

20.

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.

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