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Treatment implications of C9ORF72.

Sha SJ, Boxer A.

Alzheimers Res Ther. 2012 Nov 27;4(6):46. doi: 10.1186/alzrt149. Review.


Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72.

Murray ME, DeJesus-Hernandez M, Rutherford NJ, Baker M, Duara R, Graff-Radford NR, Wszolek ZK, Ferman TJ, Josephs KA, Boylan KB, Rademakers R, Dickson DW.

Acta Neuropathol. 2011 Dec;122(6):673-90. doi: 10.1007/s00401-011-0907-y.


Antisense transcripts of the expanded C9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD/ALS.

Gendron TF, Bieniek KF, Zhang YJ, Jansen-West K, Ash PE, Caulfield T, Daughrity L, Dunmore JH, Castanedes-Casey M, Chew J, Cosio DM, van Blitterswijk M, Lee WC, Rademakers R, Boylan KB, Dickson DW, Petrucelli L.

Acta Neuropathol. 2013 Dec;126(6):829-44. doi: 10.1007/s00401-013-1192-8.


Identification of C9orf72 repeat expansions in patients with amyotrophic lateral sclerosis and frontotemporal dementia in mainland China.

Jiao B, Tang B, Liu X, Yan X, Zhou L, Yang Y, Wang J, Xia K, Shen L.

Neurobiol Aging. 2014 Apr;35(4):936.e19-22. doi: 10.1016/j.neurobiolaging.2013.10.001.


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. Review.


Characterization of DNA hypermethylation in the cerebellum of c9FTD/ALS patients.

Belzil VV, Bauer PO, Gendron TF, Murray ME, Dickson D, Petrucelli L.

Brain Res. 2014 Oct 10;1584:15-21. doi: 10.1016/j.brainres.2014.02.015.


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. Review.


Genetic counseling for FTD/ALS caused by the C9ORF72 hexanucleotide expansion.

Fong JC, Karydas AM, Goldman JS.

Alzheimers Res Ther. 2012 Jul 19;4(4):27. doi: 10.1186/alzrt130. Review.


[C9orf72 in Japanese amyotrophic lateral sclerosis (ALS)].

Tomiyama H.

Rinsho Shinkeigaku. 2013;53(11):1074-6. Japanese.


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. Review.


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.


Oligonucleotide-Based Therapy for FTD/ALS Caused by the C9orf72 Repeat Expansion: A Perspective.

Fernandes SA, Douglas AG, Varela MA, Wood MJ, Aoki Y.

J Nucleic Acids. 2013;2013:208245. doi: 10.1155/2013/208245. Review.


Frontotemporal dementia due to C9ORF72 mutations: clinical and imaging features.

Sha SJ, Takada LT, Rankin KP, Yokoyama JS, Rutherford NJ, Fong JC, Khan B, Karydas A, Baker MC, DeJesus-Hernandez M, Pribadi M, Coppola G, Geschwind DH, Rademakers R, Lee SE, Seeley W, Miller BL, Boxer AL.

Neurology. 2012 Sep 4;79(10):1002-11. doi: 10.1212/WNL.0b013e318268452e.


Reduced C9orf72 gene expression in c9FTD/ALS is caused by histone trimethylation, an epigenetic event detectable in blood.

Belzil VV, Bauer PO, Prudencio M, Gendron TF, Stetler CT, Yan IK, Pregent L, Daughrity L, Baker MC, Rademakers R, Boylan K, Patel TC, Dickson DW, Petrucelli L.

Acta Neuropathol. 2013 Dec;126(6):895-905. doi: 10.1007/s00401-013-1199-1.


Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS.

Ash PE, Bieniek KF, Gendron TF, Caulfield T, Lin WL, Dejesus-Hernandez M, van Blitterswijk MM, Jansen-West K, Paul JW 3rd, Rademakers R, Boylan KB, Dickson DW, Petrucelli L.

Neuron. 2013 Feb 20;77(4):639-46. doi: 10.1016/j.neuron.2013.02.004.


Nucleocytoplasmic transport in C9orf72-mediated ALS/FTD.

Zhang K, Grima JC, Rothstein JD, Lloyd TE.

Nucleus. 2016 Apr 25;7(2):132-7. doi: 10.1080/19491034.2016.1172152.


C9ORF72 repeat expansion in clinical and neuropathologic frontotemporal dementia cohorts.

Dobson-Stone C, Hallupp M, Bartley L, Shepherd CE, Halliday GM, Schofield PR, Hodges JR, Kwok JB.

Neurology. 2012 Sep 4;79(10):995-1001. doi: 10.1212/WNL.0b013e3182684634.


ALS-FTD complex disorder due to C9ORF72 gene mutation: description of first Polish family.

Siuda J, Lewicka T, Bujak M, Opala G, Golenia A, Slowik A, van Blitterswijk M, Baker M, Ertekin-Taner N, Wszolek ZK, Rademakers R.

Eur Neurol. 2014;72(1-2):64-71. doi: 10.1159/000362267.


Characterization of a family with c9FTD/ALS associated with the GGGGCC repeat expansion in C9ORF72.

Savica R, Adeli A, Vemuri P, Knopman DS, Dejesus-Hernandez M, Rademakers R, Fields JA, Whitwell J, Jack CR, Lowe V, Petersen RC, Boeve BF.

Arch Neurol. 2012 Sep;69(9):1164-9. doi: 10.1001/archneurol.2012.772.


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. Review.

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