Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

575 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Identification of a novel risk locus for progressive supranuclear palsy by a pooled genomewide scan of 500,288 single-nucleotide polymorphisms.
Melquist S, Craig DW, Huentelman MJ, Crook R, Pearson JV, Baker M, Zismann VL, Gass J, Adamson J, Szelinger S, Corneveaux J, Cannon A, Coon KD, Lincoln S, Adler C, Tuite P, Calne DB, Bigio EH, Uitti RJ, Wszolek ZK, Golbe LI, Caselli RJ, Graff-Radford N, Litvan I, Farrer MJ, Dickson DW, Hutton M, Stephan DA. Melquist S, et al. Among authors: gass j. Am J Hum Genet. 2007 Apr;80(4):769-78. doi: 10.1086/513320. Epub 2007 Mar 8. Am J Hum Genet. 2007. PMID: 17357082 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: gass jm. PLoS Genet. 2008 Sep 19;4(9):e1000193. doi: 10.1371/journal.pgen.1000193. PLoS Genet. 2008. PMID: 18802454 Free PMC article.
High-density SNP haplotyping suggests altered regulation of tau gene expression in progressive supranuclear palsy.
Rademakers R, Melquist S, Cruts M, Theuns J, Del-Favero J, Poorkaj P, Baker M, Sleegers K, Crook R, De Pooter T, Bel Kacem S, Adamson J, Van den Bossche D, Van den Broeck M, Gass J, Corsmit E, De Rijk P, Thomas N, Engelborghs S, Heckman M, Litvan I, Crook J, De Deyn PP, Dickson D, Schellenberg GD, Van Broeckhoven C, Hutton ML. Rademakers R, et al. Among authors: gass j. Hum Mol Genet. 2005 Nov 1;14(21):3281-92. doi: 10.1093/hmg/ddi361. Epub 2005 Sep 29. Hum Mol Genet. 2005. PMID: 16195395
Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17.
Baker M, Mackenzie IR, Pickering-Brown SM, Gass J, Rademakers R, Lindholm C, Snowden J, Adamson J, Sadovnick AD, Rollinson S, Cannon A, Dwosh E, Neary D, Melquist S, Richardson A, Dickson D, Berger Z, Eriksen J, Robinson T, Zehr C, Dickey CA, Crook R, McGowan E, Mann D, Boeve B, Feldman H, Hutton M. Baker M, et al. Among authors: gass j. Nature. 2006 Aug 24;442(7105):916-9. doi: 10.1038/nature05016. Epub 2006 Jul 16. Nature. 2006. PMID: 16862116
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
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: gass j. Lancet Neurol. 2007 Oct;6(10):857-68. doi: 10.1016/S1474-4422(07)70221-1. Lancet Neurol. 2007. PMID: 17826340
Study of a Swiss dopa-responsive dystonia family with a deletion in GCH1: redefining DYT14 as DYT5.
Wider C, Melquist S, Hauf M, Solida A, Cobb SA, Kachergus JM, Gass J, Coon KD, Baker M, Cannon A, Stephan DA, Schorderet DF, Ghika J, Burkhard PR, Kapatos G, Hutton M, Farrer MJ, Wszolek ZK, Vingerhoets FJ. Wider C, et al. Among authors: gass j. Neurology. 2008 Apr 15;70(16 Pt 2):1377-83. doi: 10.1212/01.wnl.0000275527.35752.c5. Epub 2007 Sep 5. Neurology. 2008. PMID: 17804835 Free PMC article.
Misregulation of human sortilin splicing leads to the generation of a nonfunctional progranulin receptor.
Prudencio M, Jansen-West KR, Lee WC, Gendron TF, Zhang YJ, Xu YF, Gass J, Stuani C, Stetler C, Rademakers R, Dickson DW, Buratti E, Petrucelli L. Prudencio M, et al. Among authors: gass j. Proc Natl Acad Sci U S A. 2012 Dec 26;109(52):21510-5. doi: 10.1073/pnas.1211577110. Epub 2012 Dec 10. Proc Natl Acad Sci U S A. 2012. PMID: 23236149 Free PMC article.
Accelerated lipofuscinosis and ubiquitination in granulin knockout mice suggest a role for progranulin in successful aging.
Ahmed Z, Sheng H, Xu YF, Lin WL, Innes AE, Gass J, Yu X, Wuertzer CA, Hou H, Chiba S, Yamanouchi K, Leissring M, Petrucelli L, Nishihara M, Hutton ML, McGowan E, Dickson DW, Lewis J. Ahmed Z, et al. Among authors: gass j. Am J Pathol. 2010 Jul;177(1):311-24. doi: 10.2353/ajpath.2010.090915. Epub 2010 Jun 3. Am J Pathol. 2010. PMID: 20522652 Free PMC article.
575 results