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dSarm/Sarm1 is required for activation of an injury-induced axon death pathway.
Osterloh JM, Yang J, Rooney TM, Fox AN, Adalbert R, Powell EH, Sheehan AE, Avery MA, Hackett R, Logan MA, MacDonald JM, Ziegenfuss JS, Milde S, Hou YJ, Nathan C, Ding A, Brown RH Jr, Conforti L, Coleman M, Tessier-Lavigne M, Züchner S, Freeman MR. Osterloh JM, et al. Among authors: powell eh. Science. 2012 Jul 27;337(6093):481-4. doi: 10.1126/science.1223899. Epub 2012 Jun 7. Science. 2012. PMID: 22678360 Free PMC article.
Exome sequencing of a multigenerational human pedigree.
Hedges DJ, Burges D, Powell E, Almonte C, Huang J, Young S, Boese B, Schmidt M, Pericak-Vance MA, Martin E, Zhang X, Harkins TT, Züchner S. Hedges DJ, et al. PLoS One. 2009 Dec 14;4(12):e8232. doi: 10.1371/journal.pone.0008232. PLoS One. 2009. PMID: 20011588 Free PMC article.
Genome-wide association study confirms SNPs in SNCA and the MAPT region as common risk factors for Parkinson disease.
Edwards TL, Scott WK, Almonte C, Burt A, Powell EH, Beecham GW, Wang L, Züchner S, Konidari I, Wang G, Singer C, Nahab F, Scott B, Stajich JM, Pericak-Vance M, Haines J, Vance JM, Martin ER. Edwards TL, et al. Among authors: powell eh. Ann Hum Genet. 2010 Mar;74(2):97-109. doi: 10.1111/j.1469-1809.2009.00560.x. Epub 2010 Jan 8. Ann Hum Genet. 2010. PMID: 20070850 Free PMC article.
Dementia revealed: novel chromosome 6 locus for late-onset Alzheimer disease provides genetic evidence for folate-pathway abnormalities.
Naj AC, Beecham GW, Martin ER, Gallins PJ, Powell EH, Konidari I, Whitehead PL, Cai G, Haroutunian V, Scott WK, Vance JM, Slifer MA, Gwirtsman HE, Gilbert JR, Haines JL, Buxbaum JD, Pericak-Vance MA. Naj AC, et al. Among authors: powell eh. PLoS Genet. 2010 Sep 23;6(9):e1001130. doi: 10.1371/journal.pgen.1001130. PLoS Genet. 2010. PMID: 20885792 Free PMC article.
Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia.
Sirmaci A, Spiliopoulos M, Brancati F, Powell E, Duman D, Abrams A, Bademci G, Agolini E, Guo S, Konuk B, Kavaz A, Blanton S, Digilio MC, Dallapiccola B, Young J, Zuchner S, Tekin M. Sirmaci A, et al. Am J Hum Genet. 2011 Aug 12;89(2):289-94. doi: 10.1016/j.ajhg.2011.06.007. Epub 2011 Jul 21. Am J Hum Genet. 2011. PMID: 21782149 Free PMC article.
Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.
Farazi Fard MA, Rebelo AP, Buglo E, Nemati H, Dastsooz H, Gehweiler I, Reich S, Reichbauer J, Quintáns B, Ordóñez-Ugalde A, Cortese A, Courel S, Abreu L, Powell E, Danzi MC, Martuscelli NB, Bis-Brewer DM, Tao F, Zarei F, Habibzadeh P, Yavarian M, Modarresi F, Silawi M, Tabatabaei Z, Yousefi M, Farpour HR, Kessler C, Mangold E, Kobeleva X, Tournev I, Chamova T, Mueller AJ, Haack TB, Tarnopolsky M, Gan-Or Z, Rouleau GA, Synofzik M, Sobrido MJ, Jordanova A, Schüle R, Zuchner S, Faghihi MA. Farazi Fard MA, et al. Am J Hum Genet. 2019 Apr 4;104(4):767-773. doi: 10.1016/j.ajhg.2019.03.001. Epub 2019 Mar 28. Am J Hum Genet. 2019. PMID: 30929741 Free PMC article.
14 results