Nussbaum RL - Search Results

1

Expansion of the Parkinson disease-associated SNCA-Rep1 allele upregulates human alpha-synuclein in transgenic mouse brain.

Cronin KD, Ge D, Manninger P, Linnertz C, Rossoshek A, Orrison BM, Bernard DJ, El-Agnaf OM, Schlossmacher MG, Nussbaum RL, Chiba-Falek O. Cronin KD, et al. Among authors: nussbaum rl. Hum Mol Genet. 2009 Sep 1;18(17):3274-85. doi: 10.1093/hmg/ddp265. Epub 2009 Jun 4. Hum Mol Genet. 2009. PMID: 19498036 Free PMC article.

2

Levels of alpha-synuclein mRNA in sporadic Parkinson disease patients.

Chiba-Falek O, Lopez GJ, Nussbaum RL. Chiba-Falek O, et al. Among authors: nussbaum rl. Mov Disord. 2006 Oct;21(10):1703-8. doi: 10.1002/mds.21007. Mov Disord. 2006. PMID: 16795004

3

Functional analysis of intra-allelic variation at NACP-Rep1 in the alpha-synuclein gene.

Chiba-Falek O, Touchman JW, Nussbaum RL. Chiba-Falek O, et al. Among authors: nussbaum rl. Hum Genet. 2003 Oct;113(5):426-31. doi: 10.1007/s00439-003-1002-9. Epub 2003 Aug 16. Hum Genet. 2003. PMID: 12923682

4

Regulation of alpha-synuclein expression by poly (ADP ribose) polymerase-1 (PARP-1) binding to the NACP-Rep1 polymorphic site upstream of the SNCA gene.

Chiba-Falek O, Kowalak JA, Smulson ME, Nussbaum RL. Chiba-Falek O, et al. Among authors: nussbaum rl. Am J Hum Genet. 2005 Mar;76(3):478-92. doi: 10.1086/428655. Epub 2005 Jan 25. Am J Hum Genet. 2005. PMID: 15672325 Free PMC article.

5

Effect of allelic variation at the NACP-Rep1 repeat upstream of the alpha-synuclein gene (SNCA) on transcription in a cell culture luciferase reporter system.

Chiba-Falek O, Nussbaum RL. Chiba-Falek O, et al. Among authors: nussbaum rl. Hum Mol Genet. 2001 Dec 15;10(26):3101-9. doi: 10.1093/hmg/10.26.3101. Hum Mol Genet. 2001. PMID: 11751692

6

Regulation of alpha-synuclein expression: implications for Parkinson's disease.

Chiba-Falek O, Nussbaum RL. Chiba-Falek O, et al. Among authors: nussbaum rl. Cold Spring Harb Symp Quant Biol. 2003;68:409-15. doi: 10.1101/sqb.2003.68.409. Cold Spring Harb Symp Quant Biol. 2003. PMID: 15338643 Review. No abstract available.

7

Extensive enteric nervous system abnormalities in mice transgenic for artificial chromosomes containing Parkinson disease-associated alpha-synuclein gene mutations precede central nervous system changes.

Kuo YM, Li Z, Jiao Y, Gaborit N, Pani AK, Orrison BM, Bruneau BG, Giasson BI, Smeyne RJ, Gershon MD, Nussbaum RL. Kuo YM, et al. Among authors: nussbaum rl. Hum Mol Genet. 2010 May 1;19(9):1633-50. doi: 10.1093/hmg/ddq038. Epub 2010 Jan 27. Hum Mol Genet. 2010. PMID: 20106867 Free PMC article.

8

Transgenic mice expressing S129 phosphorylation mutations in α-synuclein.

Escobar VD, Kuo YM, Orrison BM, Giasson BI, Nussbaum RL. Escobar VD, et al. Among authors: nussbaum rl. Neurosci Lett. 2014 Mar 20;563:96-100. doi: 10.1016/j.neulet.2014.01.033. Epub 2014 Jan 30. Neurosci Lett. 2014. PMID: 24486885 Free PMC article.

9

Spectrum of mutations in the OCRL1 gene in the Lowe oculocerebrorenal syndrome.

Lin T, Orrison BM, Leahey AM, Suchy SF, Bernard DJ, Lewis RA, Nussbaum RL. Lin T, et al. Among authors: nussbaum rl. Am J Hum Genet. 1997 Jun;60(6):1384-8. doi: 10.1086/515471. Am J Hum Genet. 1997. PMID: 9199559 Free PMC article.

10

X-inactivation analysis of embryonic lethality in Ocrl wt/-; Inpp5b-/- mice.

Bernard DJ, Nussbaum RL. Bernard DJ, et al. Among authors: nussbaum rl. Mamm Genome. 2010 Apr;21(3-4):186-94. doi: 10.1007/s00335-010-9255-9. Epub 2010 Feb 27. Mamm Genome. 2010. PMID: 20195868 Free PMC article.

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