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Items: 1 to 20 of 55

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.

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
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.

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
5.

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
6.

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
7.

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
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.

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.

10.

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
11.

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.

12.

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
13.

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.

14.

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.

15.

C9orf72 mutations and the puzzle of cerebro-cerebellar network degeneration.

Marshall CR, Bocchetta M, Rohrer JD, Warren JD.

Brain. 2016 Aug;139(Pt 8):e44. doi: 10.1093/brain/aww103. Epub 2016 May 3. No abstract available.

16.

Reply: C9orf72 mutations and the puzzle of cerebro-cerebellar network degeneration.

Guo CC, Hornberger M.

Brain. 2016 Aug;139(Pt 8):e45. doi: 10.1093/brain/aww104. Epub 2016 May 3. No abstract available.

PMID:
27190029
17.

Clinical implications of recent breakthroughs in amyotrophic lateral sclerosis.

Van Damme P, Robberecht W.

Curr Opin Neurol. 2013 Oct;26(5):466-72. doi: 10.1097/WCO.0b013e328364c063. Review.

PMID:
23945281
18.

Familial benign frontotemporal deterioration with C9ORF72 hexanucleotide expansion.

Gómez-Tortosa E, Serrano S, de Toledo M, Pérez-Pérez J, Sainz MJ.

Alzheimers Dement. 2014 Oct;10(5 Suppl):S284-9. doi: 10.1016/j.jalz.2013.09.013. Epub 2014 Jan 15.

PMID:
24439166
19.

What is repeated in ALS and FTLD.

Fecto F, Siddique T.

Lancet Neurol. 2012 Jan;11(1):25-7. doi: 10.1016/S1474-4422(11)70275-7. Epub 2011 Dec 7. No abstract available.

PMID:
22154784
20.

Distinct clinical characteristics of C9orf72 expansion carriers compared with GRN, MAPT, and nonmutation carriers in a Flanders-Belgian FTLD cohort.

Van Langenhove T, van der Zee J, Gijselinck I, Engelborghs S, Vandenberghe R, Vandenbulcke M, De Bleecker J, Sieben A, Versijpt J, Ivanoiu A, Deryck O, Willems C, Dillen L, Philtjens S, Maes G, Bäumer V, Van Den Broeck M, Mattheijssens M, Peeters K, Martin JJ, Michotte A, Santens P, De Jonghe P, Cras P, De Deyn PP, Cruts M, Van Broeckhoven C.

JAMA Neurol. 2013 Mar 1;70(3):365-73. doi: 10.1001/2013.jamaneurol.181.

PMID:
23338682

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