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Page 1
Identical twins with the C9orf72 repeat expansion are discordant for ALS.
Xi Z, Yunusova Y, van Blitterswijk M, Dib S, Ghani M, Moreno D, Sato C, Liang Y, Singleton A, Robertson J, Rademakers R, Zinman L, Rogaeva E. Xi Z, et al. Among authors: rademakers r. Neurology. 2014 Oct 14;83(16):1476-8. doi: 10.1212/WNL.0000000000000886. Epub 2014 Sep 10. Neurology. 2014. PMID: 25209579 Free PMC article. No abstract available.
Progranulin mutations and amyotrophic lateral sclerosis or amyotrophic lateral sclerosis-frontotemporal dementia phenotypes.
Schymick JC, Yang Y, Andersen PM, Vonsattel JP, Greenway M, Momeni P, Elder J, Chiò A, Restagno G, Robberecht W, Dahlberg C, Mukherjee O, Goate A, Graff-Radford N, Caselli RJ, Hutton M, Gass J, Cannon A, Rademakers R, Singleton AB, Hardiman O, Rothstein J, Hardy J, Traynor BJ. Schymick JC, et al. Among authors: rademakers r. J Neurol Neurosurg Psychiatry. 2007 Jul;78(7):754-6. doi: 10.1136/jnnp.2006.109553. Epub 2007 Mar 19. J Neurol Neurosurg Psychiatry. 2007. PMID: 17371905 Free PMC article.
Lrrk2 R1441C parkinsonism is clinically similar to sporadic Parkinson disease.
Haugarvoll K, Rademakers R, Kachergus JM, Nuytemans K, Ross OA, Gibson JM, Tan EK, Gaig C, Tolosa E, Goldwurm S, Guidi M, Riboldazzi G, Brown L, Walter U, Benecke R, Berg D, Gasser T, Theuns J, Pals P, Cras P, De Deyn PP, Engelborghs S, Pickut B, Uitti RJ, Foroud T, Nichols WC, Hagenah J, Klein C, Samii A, Zabetian CP, Bonifati V, Van Broeckhoven C, Farrer MJ, Wszolek ZK. Haugarvoll K, et al. Among authors: rademakers r. Neurology. 2008 Apr 15;70(16 Pt 2):1456-60. doi: 10.1212/01.wnl.0000304044.22253.03. Epub 2008 Mar 12. Neurology. 2008. PMID: 18337586 Free PMC article.
GRN 3'UTR+78 C>T is not associated with risk for Parkinson's disease.
Jasinska-Myga B, Wider C, Opala G, Krygowska-Wajs A, Barcikowska M, Czyzewski K, Baker M, Rademakers R, Uitti RJ, Farrer MJ, Ross OA, Wszolek ZK. Jasinska-Myga B, et al. Among authors: rademakers r. Eur J Neurol. 2009 Aug;16(8):909-11. doi: 10.1111/j.1468-1331.2009.02621.x. Epub 2009 Mar 31. Eur J Neurol. 2009. PMID: 19473366
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: rademakers r. Neurology. 2009 Jun 9;72(23):2024-8. doi: 10.1212/WNL.0b013e3181a92c4c. Neurology. 2009. PMID: 19506225 Free PMC article.
Genome-wide screen identifies rs646776 near sortilin as a regulator of progranulin levels in human plasma.
Carrasquillo MM, Nicholson AM, Finch N, Gibbs JR, Baker M, Rutherford NJ, Hunter TA, DeJesus-Hernandez M, Bisceglio GD, Mackenzie IR, Singleton A, Cookson MR, Crook JE, Dillman A, Hernandez D, Petersen RC, Graff-Radford NR, Younkin SG, Rademakers R. Carrasquillo MM, et al. Among authors: rademakers r. Am J Hum Genet. 2010 Dec 10;87(6):890-7. doi: 10.1016/j.ajhg.2010.11.002. Epub 2010 Nov 18. Am J Hum Genet. 2010. PMID: 21087763 Free PMC article.
Pathological heterogeneity in amyotrophic lateral sclerosis with FUS mutations: two distinct patterns correlating with disease severity and mutation.
Mackenzie IR, Ansorge O, Strong M, Bilbao J, Zinman L, Ang LC, Baker M, Stewart H, Eisen A, Rademakers R, Neumann M. Mackenzie IR, et al. Among authors: rademakers r. Acta Neuropathol. 2011 Jul;122(1):87-98. doi: 10.1007/s00401-011-0838-7. Epub 2011 May 21. Acta Neuropathol. 2011. PMID: 21604077 Free PMC article.
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: rademakers r. 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.
Clinical characterization of a kindred with a novel 12-octapeptide repeat insertion in the prion protein gene.
Kumar N, Boeve BF, Boot BP, Orr CF, Duffy J, Woodruff BK, Nair AK, Ellison J, Kuntz K, Kantarci K, Jack CR Jr, Westmoreland BF, Fields JA, Baker M, Rademakers R, Parisi JE, Dickson DW. Kumar N, et al. Among authors: rademakers r. Arch Neurol. 2011 Sep;68(9):1165-70. doi: 10.1001/archneurol.2011.187. Arch Neurol. 2011. PMID: 21911696 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: rademakers r. 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.
504 results