Orrison BM - Search Results

1

Human and mouse alpha-synuclein genes: comparative genomic sequence analysis and identification of a novel gene regulatory element.

Touchman JW, Dehejia A, Chiba-Falek O, Cabin DE, Schwartz JR, Orrison BM, Polymeropoulos MH, Nussbaum RL. Touchman JW, et al. Among authors: orrison bm. Genome Res. 2001 Jan;11(1):78-86. doi: 10.1101/gr.165801. Genome Res. 2001. PMID: 11156617 Free PMC article.

2

Synaptic vesicle depletion correlates with attenuated synaptic responses to prolonged repetitive stimulation in mice lacking alpha-synuclein.

Cabin DE, Shimazu K, Murphy D, Cole NB, Gottschalk W, McIlwain KL, Orrison B, Chen A, Ellis CE, Paylor R, Lu B, Nussbaum RL. Cabin DE, et al. J Neurosci. 2002 Oct 15;22(20):8797-807. doi: 10.1523/JNEUROSCI.22-20-08797.2002. J Neurosci. 2002. PMID: 12388586 Free PMC article.

3

Physical mapping and genomic structure of the Lowe syndrome gene OCRL1.

Nussbaum RL, Orrison BM, Jänne PA, Charnas L, Chinault AC. Nussbaum RL, et al. Among authors: orrison bm. Hum Genet. 1997 Feb;99(2):145-50. doi: 10.1007/s004390050329. Hum Genet. 1997. PMID: 9048911

4

Mutations are not uniformly distributed throughout the OCRL1 gene in Lowe syndrome patients.

Lin T, Orrison BM, Suchy SF, Lewis RA, Nussbaum RL. Lin T, et al. Among authors: orrison bm. Mol Genet Metab. 1998 May;64(1):58-61. doi: 10.1006/mgme.1998.2687. Mol Genet Metab. 1998. PMID: 9682219

5

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: orrison bm. 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.

6

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: orrison bm. 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.

7

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: orrison bm. Am J Hum Genet. 1997 Jun;60(6):1384-8. doi: 10.1086/515471. Am J Hum Genet. 1997. PMID: 9199559 Free PMC article.

8

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: orrison bm. 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.

9

Regional FMRP deficits and large repeat expansions into the full mutation range in a new Fragile X premutation mouse model.

Entezam A, Biacsi R, Orrison B, Saha T, Hoffman GE, Grabczyk E, Nussbaum RL, Usdin K. Entezam A, et al. Gene. 2007 Jun 15;395(1-2):125-34. doi: 10.1016/j.gene.2007.02.026. Epub 2007 Mar 16. Gene. 2007. PMID: 17442505 Free PMC article.

10

A de novo G+1-->A mutation at the alpha 2(I) exon 16 splice donor site causes skipping of exon 16 in the cDNA of one allele of an OI type IV proband.

Filie JD, Orrison BM, Wang Q, Lewis MB, Marini JC. Filie JD, et al. Among authors: orrison bm. Hum Mutat. 1993;2(5):380-8. doi: 10.1002/humu.1380020510. Hum Mutat. 1993. PMID: 8257992

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