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519 results

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Page 1
Cortical and subcortical pathological burden and neuronal loss in an autopsy series of FTLD-TDP-type C.
Kawles A, Nishihira Y, Feldman A, Gill N, Minogue G, Keszycki R, Coventry C, Spencer C, Lilek J, Ajroud K, Coppola G, Rademakers R, Rogalski E, Weintraub S, Zhang H, Flanagan ME, Bigio EH, Mesulam MM, Geula C, Mao Q, Gefen T. Kawles A, et al. Among authors: rademakers r. Brain. 2022 Apr 29;145(3):1069-1078. doi: 10.1093/brain/awab368. Brain. 2022. PMID: 34919645 Free PMC article.
Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration.
Gass J, Cannon A, Mackenzie IR, Boeve B, Baker M, Adamson J, Crook R, Melquist S, Kuntz K, Petersen R, Josephs K, Pickering-Brown SM, Graff-Radford N, Uitti R, Dickson D, Wszolek Z, Gonzalez J, Beach TG, Bigio E, Johnson N, Weintraub S, Mesulam M, White CL 3rd, Woodruff B, Caselli R, Hsiung GY, Feldman H, Knopman D, Hutton M, Rademakers R. Gass J, et al. Among authors: rademakers r. Hum Mol Genet. 2006 Oct 15;15(20):2988-3001. doi: 10.1093/hmg/ddl241. Epub 2006 Sep 1. Hum Mol Genet. 2006. PMID: 16950801
Clinicopathologic correlation in PGRN mutations.
Davion S, Johnson N, Weintraub S, Mesulam MM, Engberg A, Mishra M, Baker M, Adamson J, Hutton M, Rademakers R, Bigio EH. Davion S, et al. Among authors: rademakers r. Neurology. 2007 Sep 11;69(11):1113-21. doi: 10.1212/01.wnl.0000267701.58488.69. Epub 2007 May 23. Neurology. 2007. PMID: 17522386 Free PMC article.
Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C-->T (Arg493X) mutation: an international initiative.
Rademakers R, Baker M, Gass J, Adamson J, Huey ED, Momeni P, Spina S, Coppola G, Karydas AM, Stewart H, Johnson N, Hsiung GY, Kelley B, Kuntz K, Steinbart E, Wood EM, Yu CE, Josephs K, Sorenson E, Womack KB, Weintraub S, Pickering-Brown SM, Schofield PR, Brooks WS, Van Deerlin VM, Snowden J, Clark CM, Kertesz A, Boylan K, Ghetti B, Neary D, Schellenberg GD, Beach TG, Mesulam M, Mann D, Grafman J, Mackenzie IR, Feldman H, Bird T, Petersen R, Knopman D, Boeve B, Geschwind DH, Miller B, Wszolek Z, Lippa C, Bigio EH, Dickson D, Graff-Radford N, Hutton M. Rademakers R, et al. Lancet Neurol. 2007 Oct;6(10):857-68. doi: 10.1016/S1474-4422(07)70221-1. Lancet Neurol. 2007. PMID: 17826340
TDP-43 A315T mutation in familial motor neuron disease.
Gitcho MA, Baloh RH, Chakraverty S, Mayo K, Norton JB, Levitch D, Hatanpaa KJ, White CL 3rd, Bigio EH, Caselli R, Baker M, Al-Lozi MT, Morris JC, Pestronk A, Rademakers R, Goate AM, Cairns NJ. Gitcho MA, et al. Among authors: rademakers r. Ann Neurol. 2008 Apr;63(4):535-8. doi: 10.1002/ana.21344. Epub 2008 Feb 20. Ann Neurol. 2008. PMID: 18288693 Free PMC article.
Abnormal TDP-43 immunoreactivity in AD modifies clinicopathologic and radiologic phenotype.
Josephs KA, Whitwell JL, Knopman DS, Hu WT, Stroh DA, Baker M, Rademakers R, Boeve BF, Parisi JE, Smith GE, Ivnik RJ, Petersen RC, Jack CR Jr, Dickson DW. Josephs KA, et al. Among authors: rademakers r. Neurology. 2008 May 6;70(19 Pt 2):1850-7. doi: 10.1212/01.wnl.0000304041.09418.b1. Epub 2008 Apr 9. Neurology. 2008. PMID: 18401022 Free PMC article.
Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis.
Rutherford NJ, Zhang YJ, Baker M, Gass JM, Finch NA, Xu YF, Stewart H, Kelley BJ, Kuntz K, Crook RJ, Sreedharan J, Vance C, Sorenson E, Lippa C, Bigio EH, Geschwind DH, Knopman DS, Mitsumoto H, Petersen RC, Cashman NR, Hutton M, Shaw CE, Boylan KB, Boeve B, Graff-Radford NR, Wszolek ZK, Caselli RJ, Dickson DW, Mackenzie IR, Petrucelli L, Rademakers R. Rutherford NJ, et al. Among authors: rademakers r. PLoS Genet. 2008 Sep 19;4(9):e1000193. doi: 10.1371/journal.pgen.1000193. PLoS Genet. 2008. PMID: 18802454 Free PMC article.
Plasma progranulin levels predict progranulin mutation status in frontotemporal dementia patients and asymptomatic family members.
Finch N, Baker M, Crook R, Swanson K, Kuntz K, Surtees R, Bisceglio G, Rovelet-Lecrux A, Boeve B, Petersen RC, Dickson DW, Younkin SG, Deramecourt V, Crook J, Graff-Radford NR, Rademakers R. Finch N, et al. Among authors: rademakers r. Brain. 2009 Mar;132(Pt 3):583-91. doi: 10.1093/brain/awn352. Epub 2009 Jan 21. Brain. 2009. PMID: 19158106 Free PMC article.
Voxel-based morphometry patterns of atrophy in FTLD with mutations in MAPT or PGRN.
Whitwell JL, Jack CR Jr, Boeve BF, Senjem ML, Baker M, Rademakers R, Ivnik RJ, Knopman DS, Wszolek ZK, Petersen RC, Josephs KA. Whitwell JL, et al. Among authors: rademakers r. Neurology. 2009 Mar 3;72(9):813-20. doi: 10.1212/01.wnl.0000343851.46573.67. Neurology. 2009. PMID: 19255408 Free PMC article.
519 results