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Items: 1 to 20 of 67

1.

C9orf72 hexanucleotide repeat expansions as the causative mutation for chromosome 9p21-linked amyotrophic lateral sclerosis and frontotemporal dementia.

Daoud H, Suhail H, Sabbagh M, Belzil V, Szuto A, Dionne-Laporte A, Khoris J, Camu W, Salachas F, Meininger V, Mathieu J, Strong M, Dion PA, Rouleau GA.

Arch Neurol. 2012 Sep;69(9):1159-63. doi: 10.1001/archneurol.2012.377.

PMID:
22964911
2.

How do C9ORF72 repeat expansions cause amyotrophic lateral sclerosis and frontotemporal dementia: can we learn from other noncoding repeat expansion disorders?

van Blitterswijk M, DeJesus-Hernandez M, Rademakers R.

Curr Opin Neurol. 2012 Dec;25(6):689-700. doi: 10.1097/WCO.0b013e32835a3efb. Review.

3.

Insights into the pathogenic mechanisms of Chromosome 9 open reading frame 72 (C9orf72) repeat expansions.

Todd TW, Petrucelli L.

J Neurochem. 2016 Aug;138 Suppl 1:145-62. doi: 10.1111/jnc.13623. Epub 2016 Jun 15. Review.

4.

Tale of two diseases: amyotrophic lateral sclerosis and frontotemporal dementia.

Verma A.

Neurol India. 2014 Jul-Aug;62(4):347-51. doi: 10.4103/0028-3886.141174. Review.

5.

Pathogenic determinants and mechanisms of ALS/FTD linked to hexanucleotide repeat expansions in the C9orf72 gene.

Wen X, Westergard T, Pasinelli P, Trotti D.

Neurosci Lett. 2017 Jan 1;636:16-26. doi: 10.1016/j.neulet.2016.09.007. Epub 2016 Sep 13. Review.

6.

[Overlapping features of frontotemporal dementia and amyotrophic lateral sclerosis].

Lillo P, Matamala JM, Valenzuela D, Verdugo R, Castillo JL, Ibáñez A, Slachevsky A.

Rev Med Chil. 2014 Jul;142(7):867-79. doi: 10.4067/S0034-98872014000700007. Review. Spanish.

7.

C9orf72 expansions in frontotemporal dementia and amyotrophic lateral sclerosis.

Rohrer JD, Isaacs AM, Mizielinska S, Mead S, Lashley T, Wray S, Sidle K, Fratta P, Orrell RW, Hardy J, Holton J, Revesz T, Rossor MN, Warren JD.

Lancet Neurol. 2015 Mar;14(3):291-301. doi: 10.1016/S1474-4422(14)70233-9. Epub 2015 Jan 29. Review. Erratum in: Lancet Neurol. 2015 Apr;14(4):350.

PMID:
25638642
8.

There has been an awakening: Emerging mechanisms of C9orf72 mutations in FTD/ALS.

Gitler AD, Tsuiji H.

Brain Res. 2016 Sep 15;1647:19-29. doi: 10.1016/j.brainres.2016.04.004. Epub 2016 Apr 6. Review.

9.

C9orf72; abnormal RNA expression is the key.

Heutink P, Jansen IE, Lynes EM.

Exp Neurol. 2014 Dec;262 Pt B:102-10. doi: 10.1016/j.expneurol.2014.05.020. Epub 2014 May 27. Review.

PMID:
24873727
10.

Biomarker development for C9orf72 repeat expansion in ALS.

Mendez EF, Sattler R.

Brain Res. 2015 May 14;1607:26-35. doi: 10.1016/j.brainres.2014.09.041. Epub 2014 Sep 27. Review.

PMID:
25261695
11.

Prevalence of brain and spinal cord inclusions, including dipeptide repeat proteins, in patients with the C9ORF72 hexanucleotide repeat expansion: a systematic neuropathological review.

Schipper LJ, Raaphorst J, Aronica E, Baas F, de Haan R, de Visser M, Troost D.

Neuropathol Appl Neurobiol. 2016 Oct;42(6):547-60. doi: 10.1111/nan.12284. Review.

PMID:
26373655
12.

Structural insight into C9orf72 hexanucleotide repeat expansions: Towards new therapeutic targets in FTD-ALS.

Kumar V, Kashav T, Islam A, Ahmad F, Hassan MI.

Neurochem Int. 2016 Nov;100:11-20. doi: 10.1016/j.neuint.2016.08.008. Epub 2016 Aug 15. Review.

PMID:
27539655
13.

Sex differences in the prevalence of genetic mutations in FTD and ALS: A meta-analysis.

Curtis AF, Masellis M, Hsiung GR, Moineddin R, Zhang K, Au B, Millett G, Mackenzie I, Rogaeva E, Tierney MC.

Neurology. 2017 Oct 10;89(15):1633-1642. doi: 10.1212/WNL.0000000000004494. Epub 2017 Sep 15. Review.

PMID:
28916533
14.

C9orf72 amyotrophic lateral sclerosis and frontotemporal dementia: gain or loss of function?

Mizielinska S, Isaacs AM.

Curr Opin Neurol. 2014 Oct;27(5):515-23. doi: 10.1097/WCO.0000000000000130. Review.

15.

C9ORF72-ALS/FTD: Transgenic Mice Make a Come-BAC.

Hayes LR, Rothstein JD.

Neuron. 2016 May 4;90(3):427-31. doi: 10.1016/j.neuron.2016.04.026. Review.

16.

Cognitive Profile of C9orf72 in Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.

Patel AN, Sampson JB.

Curr Neurol Neurosci Rep. 2015 Sep;15(9):59. doi: 10.1007/s11910-015-0582-9. Review.

PMID:
26198888
17.

Antisense oligonucleotide therapy for the treatment of C9ORF72 ALS/FTD diseases.

Riboldi G, Zanetta C, Ranieri M, Nizzardo M, Simone C, Magri F, Bresolin N, Comi GP, Corti S.

Mol Neurobiol. 2014 Dec;50(3):721-32. doi: 10.1007/s12035-014-8724-7. Epub 2014 May 9. Review.

PMID:
24809691
18.

C9ORF72 mutations in neurodegenerative diseases.

Liu Y, Yu JT, Zong Y, Zhou J, Tan L.

Mol Neurobiol. 2014 Feb;49(1):386-98. doi: 10.1007/s12035-013-8528-1. Epub 2013 Aug 10. Review.

PMID:
23934648
19.

Advances in understanding the molecular basis of frontotemporal dementia.

Rademakers R, Neumann M, Mackenzie IR.

Nat Rev Neurol. 2012 Aug;8(8):423-34. doi: 10.1038/nrneurol.2012.117. Epub 2012 Jun 26. Review. Erratum in: Nat Rev Neurol. 2013 May;9(5):240.

20.

Frontotemporal lobar dementia and amyotrophic lateral sclerosis associated with c9orf72 expansion.

Le Ber I.

Rev Neurol (Paris). 2015 Jun-Jul;171(6-7):475-81. doi: 10.1016/j.neurol.2015.04.004. Epub 2015 May 29. Review.

PMID:
26032484

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