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231 results

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Page 1
Novel p.Ile151Val mutation in VCP in a patient of African American descent with sporadic ALS.
DeJesus-Hernandez M, Desaro P, Johnston A, Ross OA, Wszolek ZK, Ertekin-Taner N, Graff-Radford NR, Rademakers R, Boylan K. DeJesus-Hernandez M, et al. Among authors: boylan k. Neurology. 2011 Sep 13;77(11):1102-3. doi: 10.1212/WNL.0b013e31822e563c. Epub 2011 Aug 31. Neurology. 2011. PMID: 21880997 Free PMC article. No abstract available.
Characterization of DCTN1 genetic variability in neurodegeneration.
Vilariño-Güell C, Wider C, Soto-Ortolaza AI, Cobb SA, Kachergus JM, Keeling BH, Dachsel JC, Hulihan MM, Dickson DW, Wszolek ZK, Uitti RJ, Graff-Radford NR, Boeve BF, Josephs KA, Miller B, Boylan KB, Gwinn K, Adler CH, Aasly JO, Hentati F, Destée A, Krygowska-Wajs A, Chartier-Harlin MC, Ross OA, Rademakers R, Farrer MJ. Vilariño-Güell C, et al. Among authors: boylan kb. Neurology. 2009 Jun 9;72(23):2024-8. doi: 10.1212/WNL.0b013e3181a92c4c. Neurology. 2009. PMID: 19506225 Free PMC article.
Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS.
DeJesus-Hernandez M, Mackenzie IR, Boeve BF, Boxer AL, Baker M, Rutherford NJ, Nicholson AM, Finch NA, Flynn H, Adamson J, Kouri N, Wojtas A, Sengdy P, Hsiung GY, Karydas A, Seeley WW, Josephs KA, Coppola G, Geschwind DH, Wszolek ZK, Feldman H, Knopman DS, Petersen RC, Miller BL, Dickson DW, Boylan KB, Graff-Radford NR, Rademakers R. DeJesus-Hernandez M, et al. Among authors: boylan kb. Neuron. 2011 Oct 20;72(2):245-56. doi: 10.1016/j.neuron.2011.09.011. Epub 2011 Sep 21. Neuron. 2011. PMID: 21944778 Free PMC article.
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. Murray ME, et al. Among authors: boylan kb. Acta Neuropathol. 2011 Dec;122(6):673-90. doi: 10.1007/s00401-011-0907-y. Epub 2011 Nov 15. Acta Neuropathol. 2011. PMID: 22083254 Free PMC article.
Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72.
Boeve BF, Boylan KB, Graff-Radford NR, DeJesus-Hernandez M, Knopman DS, Pedraza O, Vemuri P, Jones D, Lowe V, Murray ME, Dickson DW, Josephs KA, Rush BK, Machulda MM, Fields JA, Ferman TJ, Baker M, Rutherford NJ, Adamson J, Wszolek ZK, Adeli A, Savica R, Boot B, Kuntz KM, Gavrilova R, Reeves A, Whitwell J, Kantarci K, Jack CR Jr, Parisi JE, Lucas JA, Petersen RC, Rademakers R. Boeve BF, et al. Among authors: boylan kb. Brain. 2012 Mar;135(Pt 3):765-83. doi: 10.1093/brain/aws004. Brain. 2012. PMID: 22366793 Free PMC article.
Length of normal alleles of C9ORF72 GGGGCC repeat do not influence disease phenotype.
Rutherford NJ, Heckman MG, Dejesus-Hernandez M, Baker MC, Soto-Ortolaza AI, Rayaprolu S, Stewart H, Finger E, Volkening K, Seeley WW, Hatanpaa KJ, Lomen-Hoerth C, Kertesz A, Bigio EH, Lippa C, Knopman DS, Kretzschmar HA, Neumann M, Caselli RJ, White CL 3rd, Mackenzie IR, Petersen RC, Strong MJ, Miller BL, Boeve BF, Uitti RJ, Boylan KB, Wszolek ZK, Graff-Radford NR, Dickson DW, Ross OA, Rademakers R. Rutherford NJ, et al. Among authors: boylan kb. Neurobiol Aging. 2012 Dec;33(12):2950.e5-7. doi: 10.1016/j.neurobiolaging.2012.07.005. Epub 2012 Jul 26. Neurobiol Aging. 2012. PMID: 22840558 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: boylan kb. 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.
Association between repeat sizes and clinical and pathological characteristics in carriers of C9ORF72 repeat expansions (Xpansize-72): a cross-sectional cohort study.
van Blitterswijk M, DeJesus-Hernandez M, Niemantsverdriet E, Murray ME, Heckman MG, Diehl NN, Brown PH, Baker MC, Finch NA, Bauer PO, Serrano G, Beach TG, Josephs KA, Knopman DS, Petersen RC, Boeve BF, Graff-Radford NR, Boylan KB, Petrucelli L, Dickson DW, Rademakers R. van Blitterswijk M, et al. Lancet Neurol. 2013 Oct;12(10):978-88. doi: 10.1016/S1474-4422(13)70210-2. Epub 2013 Sep 5. Lancet Neurol. 2013. PMID: 24011653 Free PMC article.
231 results