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Page 1
C9ORF72 repeat expansions in cases with previously identified pathogenic mutations.
van Blitterswijk M, Baker MC, DeJesus-Hernandez M, Ghidoni R, Benussi L, Finger E, Hsiung GY, Kelley BJ, Murray ME, Rutherford NJ, Brown PE, Ravenscroft T, Mullen B, Ash PE, Bieniek KF, Hatanpaa KJ, Karydas A, Wood EM, Coppola G, Bigio EH, Lippa C, Strong MJ, Beach TG, Knopman DS, Huey ED, Mesulam M, Bird T, White CL 3rd, Kertesz A, Geschwind DH, Van Deerlin VM, Petersen RC, Binetti G, Miller BL, Petrucelli L, Wszolek ZK, Boylan KB, Graff-Radford NR, Mackenzie IR, Boeve BF, Dickson DW, Rademakers R. van Blitterswijk M, et al. Among authors: bieniek kf. Neurology. 2013 Oct 8;81(15):1332-41. doi: 10.1212/WNL.0b013e3182a8250c. Epub 2013 Sep 11. Neurology. 2013. PMID: 24027057 Free PMC article.
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. Ash PE, et al. Among authors: bieniek kf. Neuron. 2013 Feb 20;77(4):639-46. doi: 10.1016/j.neuron.2013.02.004. Epub 2013 Feb 12. Neuron. 2013. PMID: 23415312 Free PMC article.
Profilin-1 mutations are rare in patients with amyotrophic lateral sclerosis and frontotemporal dementia.
van Blitterswijk M, Baker MC, Bieniek KF, Knopman DS, Josephs KA, Boeve B, Caselli R, Wszolek ZK, Petersen R, Graff-Radford NR, Boylan KB, Dickson DW, Rademakers R. van Blitterswijk M, et al. Among authors: bieniek kf. Amyotroph Lateral Scler Frontotemporal Degener. 2013 Sep;14(5-6):463-9. doi: 10.3109/21678421.2013.787630. Epub 2013 May 2. Amyotroph Lateral Scler Frontotemporal Degener. 2013. PMID: 23634771 Free PMC article.
Progressive amnestic dementia, hippocampal sclerosis, and mutation in C9ORF72.
Murray ME, Bieniek KF, Banks Greenberg M, DeJesus-Hernandez M, Rutherford NJ, van Blitterswijk M, Niemantsverdriet E, Ash PE, Gendron TF, Kouri N, Baker M, Goodman IJ, Petrucelli L, Rademakers R, Dickson DW. Murray ME, et al. Among authors: bieniek kf. Acta Neuropathol. 2013 Oct;126(4):545-54. doi: 10.1007/s00401-013-1161-2. Epub 2013 Aug 7. Acta Neuropathol. 2013. PMID: 23922030 Free PMC article.
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. Gendron TF, et al. Among authors: bieniek kf. Acta Neuropathol. 2013 Dec;126(6):829-44. doi: 10.1007/s00401-013-1192-8. Epub 2013 Oct 16. Acta Neuropathol. 2013. PMID: 24129584 Free PMC article.
Subtle gait changes in patients with REM sleep behavior disorder.
McDade EM, Boot BP, Christianson TJ, Pankratz VS, Boeve BF, Ferman TJ, Bieniek K, Hollman JH, Roberts RO, Mielke MM, Knopman DS, Petersen RC. McDade EM, et al. Mov Disord. 2013 Nov;28(13):1847-53. doi: 10.1002/mds.25653. Epub 2013 Oct 15. Mov Disord. 2013. PMID: 24130124 Free PMC article. Clinical Trial.
TMEM106B protects C9ORF72 expansion carriers against frontotemporal dementia.
van Blitterswijk M, Mullen B, Nicholson AM, Bieniek KF, Heckman MG, Baker MC, DeJesus-Hernandez M, Finch NA, Brown PH, Murray ME, Hsiung GY, Stewart H, Karydas AM, Finger E, Kertesz A, Bigio EH, Weintraub S, Mesulam M, Hatanpaa KJ, White CL 3rd, Strong MJ, Beach TG, Wszolek ZK, Lippa C, Caselli R, Petrucelli L, Josephs KA, Parisi JE, Knopman DS, Petersen RC, Mackenzie IR, Seeley WW, Grinberg LT, Miller BL, Boylan KB, Graff-Radford NR, Boeve BF, Dickson DW, Rademakers R. van Blitterswijk M, et al. Among authors: bieniek kf. Acta Neuropathol. 2014 Mar;127(3):397-406. doi: 10.1007/s00401-013-1240-4. Epub 2014 Jan 3. Acta Neuropathol. 2014. PMID: 24385136 Free PMC article.
57 results