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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. 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.
Rapidly progressive aphasic dementia and motor neuron disease.
Caselli RJ, Windebank AJ, Petersen RC, Komori T, Parisi JE, Okazaki H, Kokmen E, Iverson R, Dinapoli RP, Graff-Radford NR, et al. Caselli RJ, et al. Ann Neurol. 1993 Feb;33(2):200-7. doi: 10.1002/ana.410330210. Ann Neurol. 1993. PMID: 8257465
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. 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
Neuropathologic features of frontotemporal lobar degeneration with ubiquitin-positive inclusions with progranulin gene (PGRN) mutations.
Josephs KA, Ahmed Z, Katsuse O, Parisi JF, Boeve BF, Knopman DS, Petersen RC, Davies P, Duara R, Graff-Radford NR, Uitti RJ, Rademakers R, Adamson J, Baker M, Hutton ML, Dickson DW. Josephs KA, et al. J Neuropathol Exp Neurol. 2007 Feb;66(2):142-51. doi: 10.1097/nen.0b013e31803020cf. J Neuropathol Exp Neurol. 2007. PMID: 17278999
825 results