Ghetti B - Search Results

1

Hereditary diffuse leukoencephalopathy with spheroids: clinical, pathologic and genetic studies of a new kindred.

Baba Y, Ghetti B, Baker MC, Uitti RJ, Hutton ML, Yamaguchi K, Bird T, Lin W, DeLucia MW, Dickson DW, Wszolek ZK. Baba Y, et al. Among authors: ghetti b. Acta Neuropathol. 2006 Apr;111(4):300-11. doi: 10.1007/s00401-006-0046-z. Epub 2006 Mar 8. Acta Neuropathol. 2006. PMID: 16523341

2

Clinical features and disease haplotypes of individuals with the N279K tau gene mutation: a comparison of the pallidopontonigral degeneration kindred and a French family.

Tsuboi Y, Uitti RJ, Delisle MB, Ferreira JJ, Brefel-Courbon C, Rascol O, Ghetti B, Murrell JR, Hutton M, Baker M, Wszolek ZK. Tsuboi Y, et al. Among authors: ghetti b. Arch Neurol. 2002 Jun;59(6):943-50. doi: 10.1001/archneur.59.6.943. Arch Neurol. 2002. PMID: 12056930

3

Frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17).

Wszolek ZK, Tsuboi Y, Ghetti B, Pickering-Brown S, Baba Y, Cheshire WP. Wszolek ZK, et al. Among authors: ghetti b. Orphanet J Rare Dis. 2006 Aug 9;1:30. doi: 10.1186/1750-1172-1-30. Orphanet J Rare Dis. 2006. PMID: 16899117 Free PMC article. Review.

4

The effect of tau genotype on clinical features in FTDP-17.

Baba Y, Tsuboi Y, Baker MC, Uitti RJ, Hutton ML, Dickson DW, Farrer M, Putzke JD, Woodruff BK, Ghetti B, Murrell JR, Boeve BF, Petersen RC, Verpillat P, Brice A, Delisle MB, Rascol O, Arima K, Dysken MW, Yasuda M, Kobayashi T, Sunohara N, Komure O, Kuno S, Sperfeld AD, Stoppe G, Kohlhase J, Pickering-Brown S, Neary D, Bugiani O, Wszolek ZK. Baba Y, et al. Among authors: ghetti b. Parkinsonism Relat Disord. 2005 Jun;11(4):205-8. doi: 10.1016/j.parkreldis.2005.01.003. Parkinsonism Relat Disord. 2005. PMID: 15878580

5

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. Among authors: ghetti b. Lancet Neurol. 2007 Oct;6(10):857-68. doi: 10.1016/S1474-4422(07)70221-1. Lancet Neurol. 2007. PMID: 17826340

6

Abundant neuritic inclusions and microvacuolar changes in a case of diffuse Lewy body disease with the A53T mutation in the alpha-synuclein gene.

Yamaguchi K, Cochran EJ, Murrell JR, Polymeropoulos MH, Shannon KM, Crowther RA, Goedert M, Ghetti B. Yamaguchi K, et al. Among authors: ghetti b. Acta Neuropathol. 2005 Sep;110(3):298-305. doi: 10.1007/s00401-005-1042-4. Epub 2005 Jun 25. Acta Neuropathol. 2005. PMID: 15981014

7

Haplotype-phenotype correlations in kindreds with the N279K mutation in the tau gene.

Woodruff BK, Baba Y, Hutton ML, Wszolek ZK, Tsuboi Y, Kobayashi T, Ghetti B, Arima K, Yasuda M, Rascol O. Woodruff BK, et al. Among authors: ghetti b. Arch Neurol. 2004 Aug;61(8):1327; author reply 1327. doi: 10.1001/archneur.61.8.1327-a. Arch Neurol. 2004. PMID: 15313857 No abstract available.

8

A novel mutation (G217D) in the Presenilin 1 gene ( PSEN1) in a Japanese family: presenile dementia and parkinsonism are associated with cotton wool plaques in the cortex and striatum.

Takao M, Ghetti B, Hayakawa I, Ikeda E, Fukuuchi Y, Miravalle L, Piccardo P, Murrell JR, Glazier BS, Koto A. Takao M, et al. Among authors: ghetti b. Acta Neuropathol. 2002 Aug;104(2):155-70. doi: 10.1007/s00401-002-0536-6. Epub 2002 Apr 19. Acta Neuropathol. 2002. PMID: 12111359

9

GFP-tagged prion protein is correctly localized and functionally active in the brains of transgenic mice.

Barmada S, Piccardo P, Yamaguchi K, Ghetti B, Harris DA. Barmada S, et al. Among authors: ghetti b. Neurobiol Dis. 2004 Aug;16(3):527-37. doi: 10.1016/j.nbd.2004.05.005. Neurobiol Dis. 2004. PMID: 15262264

10

APP mutations in the Aβ coding region are associated with abundant cerebral deposition of Aβ38.

Moro ML, Giaccone G, Lombardi R, Indaco A, Uggetti A, Morbin M, Saccucci S, Di Fede G, Catania M, Walsh DM, Demarchi A, Rozemuller A, Bogdanovic N, Bugiani O, Ghetti B, Tagliavini F. Moro ML, et al. Among authors: ghetti b. Acta Neuropathol. 2012 Dec;124(6):809-21. doi: 10.1007/s00401-012-1061-x. Epub 2012 Nov 13. Acta Neuropathol. 2012. PMID: 23143229

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