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Items: 1 to 20 of 64

1.

C9ORF72: grabbing a tiger by the tail.

Mann D.

Acta Neuropathol. 2014 Mar;127(3):311-8. doi: 10.1007/s00401-014-1252-8. No abstract available.

PMID:
24493409
2.

Reduced C9orf72 protein levels in frontal cortex of amyotrophic lateral sclerosis and frontotemporal degeneration brain with the C9ORF72 hexanucleotide repeat expansion.

Waite AJ, Bäumer D, East S, Neal J, Morris HR, Ansorge O, Blake DJ.

Neurobiol Aging. 2014 Jul;35(7):1779.e5-1779.e13. doi: 10.1016/j.neurobiolaging.2014.01.016. Epub 2014 Jan 17.

3.

The C9ORF72 expansion mutation: gene structure, phenotypic and diagnostic issues.

Woollacott IO, Mead S.

Acta Neuropathol. 2014 Mar;127(3):319-32. doi: 10.1007/s00401-014-1253-7. Epub 2014 Feb 11. Review.

PMID:
24515836
4.

C9ORF72 repeat expansion not detected in patients with multiple sclerosis.

Fenoglio C, De Riz M, Villa C, Serpente M, Ridolfi E, Bonsi R, Cioffi SM, Barone C, Pietroboni A, Calvi A, Scarpini E, Galimberti D.

Neurobiol Aging. 2014 May;35(5):1213.e1-2. doi: 10.1016/j.neurobiolaging.2013.10.096. Epub 2013 Nov 1.

PMID:
24355526
5.

Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population.

Beck J, Poulter M, Hensman D, Rohrer JD, Mahoney CJ, Adamson G, Campbell T, Uphill J, Borg A, Fratta P, Orrell RW, Malaspina A, Rowe J, Brown J, Hodges J, Sidle K, Polke JM, Houlden H, Schott JM, Fox NC, Rossor MN, Tabrizi SJ, Isaacs AM, Hardy J, Warren JD, Collinge J, Mead S.

Am J Hum Genet. 2013 Mar 7;92(3):345-53. doi: 10.1016/j.ajhg.2013.01.011. Epub 2013 Feb 21.

6.

Characterization of DNA G-quadruplex species forming from C9ORF72 G4C2-expanded repeats associated with amyotrophic lateral sclerosis and frontotemporal lobar degeneration.

Šket P, Pohleven J, Kovanda A, Štalekar M, Župunski V, Zalar M, Plavec J, Rogelj B.

Neurobiol Aging. 2015 Feb;36(2):1091-6. doi: 10.1016/j.neurobiolaging.2014.09.012. Epub 2014 Sep 28.

PMID:
25442110
7.

Mechanisms of toxicity in C9FTLD/ALS.

Gendron TF, Belzil VV, Zhang YJ, Petrucelli L.

Acta Neuropathol. 2014 Mar;127(3):359-76. doi: 10.1007/s00401-013-1237-z. Epub 2014 Jan 7. Review.

8.

C9ORF72, the new gene on the block, causes C9FTD/ALS: new insights provided by neuropathology.

Bigio EH.

Acta Neuropathol. 2011 Dec;122(6):653-5. doi: 10.1007/s00401-011-0919-7. No abstract available.

9.

A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study.

Gijselinck I, Van Langenhove T, van der Zee J, Sleegers K, Philtjens S, Kleinberger G, Janssens J, Bettens K, Van Cauwenberghe C, Pereson S, Engelborghs S, Sieben A, De Jonghe P, Vandenberghe R, Santens P, De Bleecker J, Maes G, Bäumer V, Dillen L, Joris G, Cuijt I, Corsmit E, Elinck E, Van Dongen J, Vermeulen S, Van den Broeck M, Vaerenberg C, Mattheijssens M, Peeters K, Robberecht W, Cras P, Martin JJ, De Deyn PP, Cruts M, Van Broeckhoven C.

Lancet Neurol. 2012 Jan;11(1):54-65. doi: 10.1016/S1474-4422(11)70261-7. Epub 2011 Dec 7. Erratum in: Lancet Neurol. 2012 Feb;11(2):125.

PMID:
22154785
10.

Jump from pre-mutation to pathologic expansion in C9orf72.

Xi Z, van Blitterswijk M, Zhang M, McGoldrick P, McLean JR, Yunusova Y, Knock E, Moreno D, Sato C, McKeever PM, Schneider R, Keith J, Petrescu N, Fraser P, Tartaglia MC, Baker MC, Graff-Radford NR, Boylan KB, Dickson DW, Mackenzie IR, Rademakers R, Robertson J, Zinman L, Rogaeva E.

Am J Hum Genet. 2015 Jun 4;96(6):962-70. doi: 10.1016/j.ajhg.2015.04.016. Epub 2015 May 21.

11.

Loss of function of C9orf72 causes motor deficits in a zebrafish model of amyotrophic lateral sclerosis.

Ciura S, Lattante S, Le Ber I, Latouche M, Tostivint H, Brice A, Kabashi E.

Ann Neurol. 2013 Aug;74(2):180-7. doi: 10.1002/ana.23946.

PMID:
23720273
12.

C9ORF72 hexanucleotide repeat expansion is a rare cause of schizophrenia.

Galimberti D, Reif A, Dell'osso B, Kittel-Schneider S, Leonhard C, Herr A, Palazzo C, Villa C, Fenoglio C, Serpente M, Cioffi SM, Prunas C, Paoli RA, Altamura AC, Scarpini E.

Neurobiol Aging. 2014 May;35(5):1214.e7-1214.e10. doi: 10.1016/j.neurobiolaging.2013.12.004. Epub 2013 Dec 11.

PMID:
24387986
13.

A hexanucleotide repeat expansion in C9ORF72 causes familial and sporadic ALS in Taiwan.

Tsai CP, Soong BW, Tu PH, Lin KP, Fuh JL, Tsai PC, Lu YC, Lee IH, Lee YC.

Neurobiol Aging. 2012 Sep;33(9):2232.e11-2232.e18. doi: 10.1016/j.neurobiolaging.2012.05.002. Epub 2012 Jun 5.

PMID:
22673113
14.

FET proteins TAF15 and EWS are selective markers that distinguish FTLD with FUS pathology from amyotrophic lateral sclerosis with FUS mutations.

Neumann M, Bentmann E, Dormann D, Jawaid A, DeJesus-Hernandez M, Ansorge O, Roeber S, Kretzschmar HA, Munoz DG, Kusaka H, Yokota O, Ang LC, Bilbao J, Rademakers R, Haass C, Mackenzie IR.

Brain. 2011 Sep;134(Pt 9):2595-609. doi: 10.1093/brain/awr201. Epub 2011 Aug 19.

15.

Frontotemporal dementia in a Brazilian kindred with the c9orf72 mutation.

Takada LT, Pimentel ML, Dejesus-Hernandez M, Fong JC, Yokoyama JS, Karydas A, Thibodeau MP, Rutherford NJ, Baker MC, Lomen-Hoerth C, Rademakers R, Miller BL.

Arch Neurol. 2012 Sep;69(9):1149-53. doi: 10.1001/archneurol.2012.650.

16.

Bidirectional transcripts of the expanded C9orf72 hexanucleotide repeat are translated into aggregating dipeptide repeat proteins.

Mori K, Arzberger T, Grässer FA, Gijselinck I, May S, Rentzsch K, Weng SM, Schludi MH, van der Zee J, Cruts M, Van Broeckhoven C, Kremmer E, Kretzschmar HA, Haass C, Edbauer D.

Acta Neuropathol. 2013 Dec;126(6):881-93. doi: 10.1007/s00401-013-1189-3. Epub 2013 Oct 17.

PMID:
24132570
17.

Cognitive and clinical characteristics of patients with amyotrophic lateral sclerosis carrying a C9orf72 repeat expansion: a population-based cohort study.

Byrne S, Elamin M, Bede P, Shatunov A, Walsh C, Corr B, Heverin M, Jordan N, Kenna K, Lynch C, McLaughlin RL, Iyer PM, O'Brien C, Phukan J, Wynne B, Bokde AL, Bradley DG, Pender N, Al-Chalabi A, Hardiman O.

Lancet Neurol. 2012 Mar;11(3):232-40. doi: 10.1016/S1474-4422(12)70014-5. Epub 2012 Feb 3. Erratum in: Lancet Neurol. 2012 May;11(5):388.

18.

Autosomal dominant frontotemporal lobar degeneration due to the C9ORF72 hexanucleotide repeat expansion: late-onset psychotic clinical presentation.

Galimberti D, Fenoglio C, Serpente M, Villa C, Bonsi R, Arighi A, Fumagalli GG, Del Bo R, Bruni AC, Anfossi M, Clodomiro A, Cupidi C, Nacmias B, Sorbi S, Piaceri I, Bagnoli S, Bessi V, Marcone A, Cerami C, Cappa SF, Filippi M, Agosta F, Magnani G, Comi G, Franceschi M, Rainero I, Giordana MT, Rubino E, Ferrero P, Rogaeva E, Xi Z, Confaloni A, Piscopo P, Bruno G, Talarico G, Cagnin A, Clerici F, Dell'Osso B, Comi GP, Altamura AC, Mariani C, Scarpini E.

Biol Psychiatry. 2013 Sep 1;74(5):384-91. doi: 10.1016/j.biopsych.2013.01.031. Epub 2013 Mar 7.

PMID:
23473366
19.

Recent advances in the genetics of the ALS-FTLD complex.

Morris HR, Waite AJ, Williams NM, Neal JW, Blake DJ.

Curr Neurol Neurosci Rep. 2012 Jun;12(3):243-50. doi: 10.1007/s11910-012-0268-5. Review.

PMID:
22477152
20.

C9orf72 promoter hypermethylation is neuroprotective: Neuroimaging and neuropathologic evidence.

McMillan CT, Russ J, Wood EM, Irwin DJ, Grossman M, McCluskey L, Elman L, Van Deerlin V, Lee EB.

Neurology. 2015 Apr 21;84(16):1622-30. doi: 10.1212/WNL.0000000000001495. Epub 2015 Mar 20.

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