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Results: 1 to 20 of 36

PubMed Links for Books (Select 1484702)

1.

Reversal of pathology in CHMP2B-mediated frontotemporal dementia patient cells using RNA interference.

Nielsen TT, Mizielinska S, Hasholt L, Isaacs AM, Nielsen JE; FReJA Consortium.

J Gene Med. 2012 Aug;14(8):521-9. doi: 10.1002/jgm.2649.

PMID:
22786763
2.

Progressive neuronal inclusion formation and axonal degeneration in CHMP2B mutant transgenic mice.

Ghazi-Noori S, Froud KE, Mizielinska S, Powell C, Smidak M, Fernandez de Marco M, O'Malley C, Farmer M, Parkinson N, Fisher EM, Asante EA, Brandner S, Collinge J, Isaacs AM.

Brain. 2012 Mar;135(Pt 3):819-32. doi: 10.1093/brain/aws006.

3.

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.

4.

Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS.

DeJesus-Hernandez M, Mackenzie IR, Boeve BF, Boxer AL, Baker M, Rutherford NJ, Nicholson AM, Finch NA, Flynn H, Adamson J, Kouri N, Wojtas A, Sengdy P, Hsiung GY, Karydas A, Seeley WW, Josephs KA, Coppola G, Geschwind DH, Wszolek ZK, Feldman H, Knopman DS, Petersen RC, Miller BL, Dickson DW, Boylan KB, Graff-Radford NR, Rademakers R.

Neuron. 2011 Oct 20;72(2):245-56. doi: 10.1016/j.neuron.2011.09.011. Epub 2011 Sep 21.

5.

Frontotemporal dementia caused by CHMP2B mutations.

Isaacs AM, Johannsen P, Holm I, Nielsen JE; FReJA consortium.

Curr Alzheimer Res. 2011 May;8(3):246-51. Review.

6.

CHMP2B mutations are rare in French families with frontotemporal lobar degeneration.

Ghanim M, Guillot-Noel L, Pasquier F, Jornea L, Deramecourt V, Dubois B, Le Ber I, Brice A; French Research Network on FTD and FTD/MND.

J Neurol. 2010 Dec;257(12):2032-6. doi: 10.1007/s00415-010-5655-8. Epub 2010 Jul 14.

PMID:
20625756
7.

Mutations in CHMP2B in lower motor neuron predominant amyotrophic lateral sclerosis (ALS).

Cox LE, Ferraiuolo L, Goodall EF, Heath PR, Higginbottom A, Mortiboys H, Hollinger HC, Hartley JA, Brockington A, Burness CE, Morrison KE, Wharton SB, Grierson AJ, Ince PG, Kirby J, Shaw PJ.

PLoS One. 2010 Mar 24;5(3):e9872. doi: 10.1371/journal.pone.0009872.

8.

Disruption of endocytic trafficking in frontotemporal dementia with CHMP2B mutations.

Urwin H, Authier A, Nielsen JE, Metcalf D, Powell C, Froud K, Malcolm DS, Holm I, Johannsen P, Brown J, Fisher EM, van der Zee J, Bruyland M; FReJA Consortium, Van Broeckhoven C, Collinge J, Brandner S, Futter C, Isaacs AM.

Hum Mol Genet. 2010 Jun 1;19(11):2228-38. doi: 10.1093/hmg/ddq100. Epub 2010 Mar 10.

9.

Nomenclature and nosology for neuropathologic subtypes of frontotemporal lobar degeneration: an update.

Mackenzie IR, Neumann M, Bigio EH, Cairns NJ, Alafuzoff I, Kril J, Kovacs GG, Ghetti B, Halliday G, Holm IE, Ince PG, Kamphorst W, Revesz T, Rozemuller AJ, Kumar-Singh S, Akiyama H, Baborie A, Spina S, Dickson DW, Trojanowski JQ, Mann DM.

Acta Neuropathol. 2010 Jan;119(1):1-4. doi: 10.1007/s00401-009-0612-2. Epub 2009 Nov 19. No abstract available.

10.

Absence of FUS-immunoreactive pathology in frontotemporal dementia linked to chromosome 3 (FTD-3) caused by mutation in the CHMP2B gene.

Holm IE, Isaacs AM, Mackenzie IR.

Acta Neuropathol. 2009 Nov;118(5):719-20. doi: 10.1007/s00401-009-0593-1. Epub 2009 Oct 21. No abstract available.

PMID:
19844732
11.

Frontotemporal dementia linked to chromosome 3 (FTD-3)--current concepts and the detection of a previously unknown branch of the Danish FTD-3 family.

Lindquist SG, Braedgaard H, Svenstrup K, Isaacs AM, Nielsen JE; FReJA Consortium.

Eur J Neurol. 2008 Jul;15(7):667-70. doi: 10.1111/j.1468-1331.2008.02144.x. Epub 2008 May 15.

PMID:
18484988
12.

CHMP2B mutations are not a common cause of familial or sporadic amyotrophic lateral sclerosis.

Blair IP, Vance C, Durnall JC, Williams KL, Thoeng A, Shaw CE, Nicholson GA.

J Neurol Neurosurg Psychiatry. 2008 Jul;79(7):849-50. doi: 10.1136/jnnp.2007.140541. Epub 2008 Feb 12. No abstract available.

PMID:
18270236
13.

Functional multivesicular bodies are required for autophagic clearance of protein aggregates associated with neurodegenerative disease.

Filimonenko M, Stuffers S, Raiborg C, Yamamoto A, Malerød L, Fisher EM, Isaacs A, Brech A, Stenmark H, Simonsen A.

J Cell Biol. 2007 Nov 5;179(3):485-500.

14.

CHMP2B C-truncating mutations in frontotemporal lobar degeneration are associated with an aberrant endosomal phenotype in vitro.

van der Zee J, Urwin H, Engelborghs S, Bruyland M, Vandenberghe R, Dermaut B, De Pooter T, Peeters K, Santens P, De Deyn PP, Fisher EM, Collinge J, Isaacs AM, Van Broeckhoven C.

Hum Mol Genet. 2008 Jan 15;17(2):313-22. Epub 2007 Oct 22.

15.

A reassessment of the neuropathology of frontotemporal dementia linked to chromosome 3.

Holm IE, Englund E, Mackenzie IR, Johannsen P, Isaacs AM.

J Neuropathol Exp Neurol. 2007 Oct;66(10):884-91.

PMID:
17917582
16.

ESCRT-III dysfunction causes autophagosome accumulation and neurodegeneration.

Lee JA, Beigneux A, Ahmad ST, Young SG, Gao FB.

Curr Biol. 2007 Sep 18;17(18):1561-7. Epub 2007 Aug 2. Erratum in: Curr Biol. 2007 Sep 18;17(18):1622.

17.

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.

18.

Neuropathologic heterogeneity in HDDD1: a familial frontotemporal lobar degeneration with ubiquitin-positive inclusions and progranulin mutation.

Behrens MI, Mukherjee O, Tu PH, Liscic RM, Grinberg LT, Carter D, Paulsmeyer K, Taylor-Reinwald L, Gitcho M, Norton JB, Chakraverty S, Goate AM, Morris JC, Cairns NJ.

Alzheimer Dis Assoc Disord. 2007 Jan-Mar;21(1):1-7.

PMID:
17334266
19.

Neuropathologic features of frontotemporal lobar degeneration with ubiquitin-positive inclusions with progranulin gene (PGRN) mutations.

Josephs KA, Ahmed Z, Katsuse O, Parisi JF, Boeve BF, Knopman DS, Petersen RC, Davies P, Duara R, Graff-Radford NR, Uitti RJ, Rademakers R, Adamson J, Baker M, Hutton ML, Dickson DW.

J Neuropathol Exp Neurol. 2007 Feb;66(2):142-51.

PMID:
17278999
20.

Progranulin mutations in primary progressive aphasia: the PPA1 and PPA3 families.

Mesulam M, Johnson N, Krefft TA, Gass JM, Cannon AD, Adamson JL, Bigio EH, Weintraub S, Dickson DW, Hutton ML, Graff-Radford NR.

Arch Neurol. 2007 Jan;64(1):43-7.

PMID:
17210807
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