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Items: 1 to 50 of 262

1.

Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration.

Shashi V, Magiera MM, Klein D, Zaki M, Schoch K, Rudnik-Schöneborn S, Norman A, Lopes Abath Neto O, Dusl M, Yuan X, Bartesaghi L, De Marco P, Alfares AA, Marom R, Arold ST, Guzmán-Vega FJ, Pena LD, Smith EC, Steinlin M, Babiker MO, Mohassel P, Foley AR, Donkervoort S, Kaur R, Ghosh PS, Stanley V, Musaev D, Nava C, Mignot C, Keren B, Scala M, Tassano E, Picco P, Doneda P, Fiorillo C, Issa MY, Alassiri A, Alahmad A, Gerard A, Liu P, Yang Y, Ertl-Wagner B, Kranz PG, Wentzensen IM, Stucka R, Stong N, Allen AS, Goldstein DB; Undiagnosed Diseases Network, Schoser B, Rösler KM, Alfadhel M, Capra V, Chrast R, Strom TM, Kamsteeg EJ, Bönnemann CG, Gleeson JG, Martini R, Janke C, Senderek J.

EMBO J. 2018 Dec 3;37(23). pii: e100540. doi: 10.15252/embj.2018100540. Epub 2018 Nov 12.

PMID:
30420557
2.

Phase IIa trial in Duchenne muscular dystrophy shows vamorolone is a first-in-class dissociative steroidal anti-inflammatory drug.

Conklin LS, Damsker JM, Hoffman EP, Jusko WJ, Mavroudis PD, Schwartz BD, Mengle-Gaw LJ, Smith EC, Mah JK, Guglieri M, Nevo Y, Kuntz N, McDonald CM, Tulinius M, Ryan MM, Webster R, Castro D, Finkel RS, Smith AL, Morgenroth LP, Arrieta A, Shimony M, Jaros M, Shale P, McCall JM, Hathout Y, Nagaraju K, van den Anker J, Ward LM, Ahmet A, Cornish MR, Clemens PR.

Pharmacol Res. 2018 Oct;136:140-150. doi: 10.1016/j.phrs.2018.09.007. Epub 2018 Sep 13.

3.

IRF2BPL Is Associated with Neurological Phenotypes.

Marcogliese PC, Shashi V, Spillmann RC, Stong N, Rosenfeld JA, Koenig MK, Martínez-Agosto JA, Herzog M, Chen AH, Dickson PI, Lin HJ, Vera MU, Salamon N, Graham JM Jr, Ortiz D, Infante E, Steyaert W, Dermaut B, Poppe B, Chung HL, Zuo Z, Lee PT, Kanca O, Xia F, Yang Y, Smith EC, Jasien J, Kansagra S, Spiridigliozzi G, El-Dairi M, Lark R, Riley K, Koeberl DD, Golden-Grant K; Program for Undiagnosed Diseases (UD-PrOZA); Undiagnosed Diseases Network, Yamamoto S, Wangler MF, Mirzaa G, Hemelsoet D, Lee B, Nelson SF, Goldstein DB, Bellen HJ, Pena LDM.

Am J Hum Genet. 2018 Sep 6;103(3):456. doi: 10.1016/j.ajhg.2018.08.010. No abstract available.

4.

Seven Decades of Disasters: A Systematic Review of the Literature.

Smith EC, Burkle FM, Aitken P, Leggatt P.

Prehosp Disaster Med. 2018 Aug;33(4):418-423. doi: 10.1017/S1049023X18000638.

PMID:
30129914
5.

The Forgotten Responders: The Ongoing Impact of 9/11 on the Ground Zero Recovery Workers.

Smith EC, Burkle FM.

Prehosp Disaster Med. 2018 Aug;33(4):436-440. doi: 10.1017/S1049023X1800064X.

PMID:
30129910
6.

Predominance of Spinal Metastases Involving the Posterior Vertebral Body.

Guo M, Kolberg KL, Smith EC, Smith BW, Yousif JE, Kessler JL, Linzey JR, Calinescu AA, Clines GA, Spratt DE, Szerlip NJ.

World Neurosurg. 2018 Nov;119:e991-e996. doi: 10.1016/j.wneu.2018.08.029. Epub 2018 Aug 13.

PMID:
30114534
7.

IRF2BPL Is Associated with Neurological Phenotypes.

Marcogliese PC, Shashi V, Spillmann RC, Stong N, Rosenfeld JA, Koenig MK, Martínez-Agosto JA, Herzog M, Chen AH, Dickson PI, Lin HJ, Vera MU, Salamon N, Graham JM Jr, Ortiz D, Infante E, Steyaert W, Dermaut B, Poppe B, Chung HL, Zuo Z, Lee PT, Kanca O, Xia F, Yang Y, Smith EC, Jasien J, Kansagra S, Spiridigliozzi G, El-Dairi M, Lark R, Riley K, Koeberl DD, Golden-Grant K; Program for Undiagnosed Diseases (UD-PrOZA); Undiagnosed Diseases Network, Yamamoto S, Wangler MF, Mirzaa G, Hemelsoet D, Lee B, Nelson SF, Goldstein DB, Bellen HJ, Pena LDM.

Am J Hum Genet. 2018 Aug 2;103(2):245-260. doi: 10.1016/j.ajhg.2018.07.006. Epub 2018 Jul 26. Erratum in: Am J Hum Genet. 2018 Sep 6;103(3):456.

PMID:
30057031
8.

Correction of Biochemical Abnormalities and Improved Muscle Function in a Phase I/II Clinical Trial of Clenbuterol in Pompe Disease.

Koeberl DD, Case LE, Smith EC, Walters C, Han SO, Li Y, Chen W, Hornik CP, Huffman KM, Kraus WE, Thurberg BL, Corcoran DL, Bali D, Bursac N, Kishnani PS.

Mol Ther. 2018 Sep 5;26(9):2304-2314. doi: 10.1016/j.ymthe.2018.06.023. Epub 2018 Jul 5.

PMID:
30025991
9.

Bitter taste sensitivity, food intake, and risk of malignant cancer in the UK Women's Cohort Study.

Lambert JD, VanDusen SR, Cockroft JE, Smith EC, Greenwood DC, Cade JE.

Eur J Nutr. 2018 Jul 6. doi: 10.1007/s00394-018-1772-4. [Epub ahead of print]

PMID:
29980925
10.

Smoking Is an Independent Risk Factor of Reoperation Due to Recurrent Lumbar Disc Herniation.

Andersen SB, Smith EC, Støttrup C, Carreon LY, Andersen MO.

Global Spine J. 2018 Jun;8(4):378-381. doi: 10.1177/2192568217730352. Epub 2017 Sep 12.

11.

Coronavirus Susceptibility to the Antiviral Remdesivir (GS-5734) Is Mediated by the Viral Polymerase and the Proofreading Exoribonuclease.

Agostini ML, Andres EL, Sims AC, Graham RL, Sheahan TP, Lu X, Smith EC, Case JB, Feng JY, Jordan R, Ray AS, Cihlar T, Siegel D, Mackman RL, Clarke MO, Baric RS, Denison MR.

MBio. 2018 Mar 6;9(2). pii: e00221-18. doi: 10.1128/mBio.00221-18.

12.

Fractures in a nationwide population-based cohort of users of breast cancer hormonal therapy.

Neuner JM, Shi Y, Kong AL, Kamaraju S, Smith EC, Smallwood AJ, Laud PW, Charlson JA.

J Cancer Surviv. 2018 Apr;12(2):268-275. doi: 10.1007/s11764-017-0666-4. Epub 2017 Dec 15.

PMID:
29243101
13.

Proofreading-Deficient Coronaviruses Adapt for Increased Fitness over Long-Term Passage without Reversion of Exoribonuclease-Inactivating Mutations.

Graepel KW, Lu X, Case JB, Sexton NR, Smith EC, Denison MR.

MBio. 2017 Nov 7;8(6). pii: e01503-17. doi: 10.1128/mBio.01503-17.

14.

Nutritional risk factors predict severe acute graft-versus-host disease and early mortality in pediatric allogeneic hematopoietic stem cell transplantation.

Kerby EH, Li Y, Getz KD, Smith EC, Smith LT, Bunin NJ, Seif AE.

Pediatr Blood Cancer. 2018 Feb;65(2). doi: 10.1002/pbc.26853. Epub 2017 Oct 28.

PMID:
29080380
15.

Murine Hepatitis Virus nsp14 Exoribonuclease Activity Is Required for Resistance to Innate Immunity.

Case JB, Li Y, Elliott R, Lu X, Graepel KW, Sexton NR, Smith EC, Weiss SR, Denison MR.

J Virol. 2017 Dec 14;92(1). pii: e01531-17. doi: 10.1128/JVI.01531-17. Print 2018 Jan 1.

16.

Profiling the Targets of Protective CD8+ T Cell Responses to Infection.

Bruder JT, Chen P, Ekberg G, Smith EC, Lazarski CA, Myers BA, Bolton J, Sedegah M, Villasante E, Richie TL, King CR, Aguiar JC, Doolan DL, Brough DE.

Mol Ther Methods Clin Dev. 2017 Aug 18;7:20-31. doi: 10.1016/j.omtm.2017.08.003. eCollection 2017 Dec 15.

17.

Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases.

Pena LDM, Jiang YH, Schoch K, Spillmann RC, Walley N, Stong N, Rapisardo Horn S, Sullivan JA, McConkie-Rosell A, Kansagra S, Smith EC, El-Dairi M, Bellet J, Keels MA, Jasien J, Kranz PG, Noel R, Nagaraj SK, Lark RK, Wechsler DSG, Del Gaudio D, Leung ML, Hendon LG, Parker CC, Jones KL; Undiagnosed Diseases Network Members, Goldstein DB, Shashi V.

Genet Med. 2018 Apr;20(4):464-469. doi: 10.1038/gim.2017.128. Epub 2017 Sep 14.

18.

Clinical trial of L-Carnitine and valproic acid in spinal muscular atrophy type I.

Krosschell KJ, Kissel JT, Townsend EL, Simeone SD, Zhang RZ, Reyna SP, Crawford TO, Schroth MK, Acsadi G, Kishnani PS, Von Kleist-Retzow JC, Hero B, D'Anjou G, Smith EC, Elsheikh B, Simard LR, Prior TW, Scott CB, Lasalle B, Sakonju A, Wirth B, Swoboda KJ; Project Cure SMA Investigator's Network.

Muscle Nerve. 2018 Feb;57(2):193-199. doi: 10.1002/mus.25776. Epub 2017 Sep 18.

PMID:
28833236
19.

The not-so-infinite malleability of RNA viruses: Viral and cellular determinants of RNA virus mutation rates.

Smith EC.

PLoS Pathog. 2017 Apr 27;13(4):e1006254. doi: 10.1371/journal.ppat.1006254. eCollection 2017 Apr. Review. No abstract available.

20.

Enteropathy-associated T cell lymphoma subtypes are characterized by loss of function of SETD2.

Moffitt AB, Ondrejka SL, McKinney M, Rempel RE, Goodlad JR, Teh CH, Leppa S, Mannisto S, Kovanen PE, Tse E, Au-Yeung RKH, Kwong YL, Srivastava G, Iqbal J, Yu J, Naresh K, Villa D, Gascoyne RD, Said J, Czader MB, Chadburn A, Richards KL, Rajagopalan D, Davis NS, Smith EC, Palus BC, Tzeng TJ, Healy JA, Lugar PL, Datta J, Love C, Levy S, Dunson DB, Zhuang Y, Hsi ED, Dave SS.

J Exp Med. 2017 May 1;214(5):1371-1386. doi: 10.1084/jem.20160894. Epub 2017 Apr 19.

21.

In Situ Tagged nsp15 Reveals Interactions with Coronavirus Replication/Transcription Complex-Associated Proteins.

Athmer J, Fehr AR, Grunewald M, Smith EC, Denison MR, Perlman S.

MBio. 2017 Jan 31;8(1). pii: e02320-16. doi: 10.1128/mBio.02320-16.

22.

Medicare D Subsidies and Racial Disparities in Persistence and Adherence With Hormonal Therapy.

Biggers A, Shi Y, Charlson J, Smith EC, Smallwood AJ, Nattinger AB, Laud PW, Neuner JM.

J Clin Oncol. 2016 Dec 20;34(36):4398-4404. Epub 2016 Oct 24.

23.

Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.

Punetha J, Kesari A, Uapinyoying P, Giri M, Clarke NF, Waddell LB, North KN, Ghaoui R, O'Grady GL, Oates EC, Sandaradura SA, Bönnemann CG, Donkervoort S, Plotz PH, Smith EC, Tesi-Rocha C, Bertorini TE, Tarnopolsky MA, Reitter B, Hausmanowa-Petrusewicz I, Hoffman EP.

J Neuromuscul Dis. 2016 May 27;3(2):209-225.

PMID:
27854218
24.

Chronic Myelogenous Leukemia- Initiating Cells Require Polycomb Group Protein EZH2.

Xie H, Peng C, Huang J, Li BE, Kim W, Smith EC, Fujiwara Y, Qi J, Cheloni G, Das PP, Nguyen M, Li S, Bradner JE, Orkin SH.

Cancer Discov. 2016 Nov;6(11):1237-1247. Epub 2016 Sep 14.

25.

Strict in vivo specificity of the Bcl11a erythroid enhancer.

Smith EC, Luc S, Croney DM, Woodworth MB, Greig LC, Fujiwara Y, Nguyen M, Sher F, Macklis JD, Bauer DE, Orkin SH.

Blood. 2016 Nov 10;128(19):2338-2342. doi: 10.1182/blood-2016-08-736249. Epub 2016 Oct 5.

26.

Inhibition of Polyamine Biosynthesis Is a Broad-Spectrum Strategy against RNA Viruses.

Mounce BC, Cesaro T, Moratorio G, Hooikaas PJ, Yakovleva A, Werneke SW, Smith EC, Poirier EZ, Simon-Loriere E, Prot M, Tamietti C, Vitry S, Volle R, Khou C, Frenkiel MP, Sakuntabhai A, Delpeyroux F, Pardigon N, Flamand M, Barba-Spaeth G, Lafon M, Denison MR, Albert ML, Vignuzzi M.

J Virol. 2016 Oct 14;90(21):9683-9692. Print 2016 Nov 1.

27.

Defining, Describing, and Categorizing Public Health Infrastructure Priorities for Tropical Cyclone, Flood, Storm, Tornado, and Tsunami-Related Disasters.

Ryan BJ, Franklin RC, Burkle FM, Watt K, Aitken P, Smith EC, Leggat P.

Disaster Med Public Health Prep. 2016 Aug;10(4):598-610. doi: 10.1017/dmp.2016.3. Review.

PMID:
27417211
28.

Bone Mineral Density Testing Disparities Among Patients With Breast Cancer Prescribed Aromatase Inhibitors.

Charlson J, Smith EC, Smallwood AJ, Laud PW, Neuner JM.

J Natl Compr Canc Netw. 2016 Jul;14(7):875-80.

PMID:
27407128
29.

Hemoglobin genetics: recent contributions of GWAS and gene editing.

Smith EC, Orkin SH.

Hum Mol Genet. 2016 Oct 1;25(R2):R99-R105. Epub 2016 Jun 23. Review.

30.

Homology-Based Identification of a Mutation in the Coronavirus RNA-Dependent RNA Polymerase That Confers Resistance to Multiple Mutagens.

Sexton NR, Smith EC, Blanc H, Vignuzzi M, Peersen OB, Denison MR.

J Virol. 2016 Jul 27;90(16):7415-7428. doi: 10.1128/JVI.00080-16. Print 2016 Aug 15.

31.

Assessment of obstetric brachial plexus injury with preoperative ultrasound.

Smith EC, Xixis KI, Grant GA, Grant SA.

Muscle Nerve. 2016 Jun;53(6):946-50. doi: 10.1002/mus.24975. Epub 2016 Feb 22.

PMID:
26565729
32.

BCL11A enhancer dissection by Cas9-mediated in situ saturating mutagenesis.

Canver MC, Smith EC, Sher F, Pinello L, Sanjana NE, Shalem O, Chen DD, Schupp PG, Vinjamur DS, Garcia SP, Luc S, Kurita R, Nakamura Y, Fujiwara Y, Maeda T, Yuan GC, Zhang F, Orkin SH, Bauer DE.

Nature. 2015 Nov 12;527(7577):192-7. doi: 10.1038/nature15521. Epub 2015 Sep 16.

33.

Novel Rod Domain Duplication in Dystrophin Resulting in X-Linked Dilated Cardiomyopathy.

Chamberlain RC, Smith EC, Campbell MJ.

Pediatr Neurol. 2015 Nov;53(5):439-41. doi: 10.1016/j.pediatrneurol.2015.07.008. Epub 2015 Jul 26.

PMID:
26294044
34.

Serotonin Receptor Agonist 5-Nonyloxytryptamine Alters the Kinetics of Reovirus Cell Entry.

Mainou BA, Ashbrook AW, Smith EC, Dorset DC, Denison MR, Dermody TS.

J Virol. 2015 Sep;89(17):8701-12. doi: 10.1128/JVI.00739-15. Epub 2015 Jun 24.

35.

The introduction of generic aromatase inhibitors and treatment adherence among Medicare D enrollees.

Neuner JM, Kamaraju S, Charlson JA, Wozniak EM, Smith EC, Biggers A, Smallwood AJ, Laud PW, Pezzin LE.

J Natl Cancer Inst. 2015 May 12;107(8). pii: djv130. doi: 10.1093/jnci/djv130. Print 2015 Aug.

36.

Mutations in coronavirus nonstructural protein 10 decrease virus replication fidelity.

Smith EC, Case JB, Blanc H, Isakov O, Shomron N, Vignuzzi M, Denison MR.

J Virol. 2015 Jun;89(12):6418-26. doi: 10.1128/JVI.00110-15. Epub 2015 Apr 8.

37.

Analyzing the impact of severe tropical cyclone Yasi on public health infrastructure and the management of noncommunicable diseases.

Ryan BJ, Franklin RC, Burkle FM, Watt K, Aitken P, Smith EC, Leggat P.

Prehosp Disaster Med. 2015 Feb;30(1):28-37. doi: 10.1017/S1049023X1400137X. Epub 2014 Dec 29. Review.

PMID:
25544290
38.

PALB2 and the risks for cancer: implications for clinical care.

Smith EC.

Oncol Nurs Forum. 2015 Jan;42(1):100-2. doi: 10.1188/15.ONF.100-102.

PMID:
25542327
39.

Ultrasound of cervical roots and brachial plexus in neonates.

Grant SA, Smith EC.

Muscle Nerve. 2015 Apr;51(4):626. doi: 10.1002/mus.24518. Epub 2015 Feb 28. No abstract available.

PMID:
25388795
40.

Thinking Outside the Triangle: Replication Fidelity of the Largest RNA Viruses.

Smith EC, Sexton NR, Denison MR.

Annu Rev Virol. 2014 Nov;1(1):111-32. doi: 10.1146/annurev-virology-031413-085507. Epub 2014 Jun 2.

PMID:
26958717
41.

Coronaviruses induce entry-independent, continuous macropinocytosis.

Freeman MC, Peek CT, Becker MM, Smith EC, Denison MR.

MBio. 2014 Aug 5;5(4):e01340-14. doi: 10.1128/mBio.01340-14.

42.

Rosiglitazone modulates pigeon atherosclerotic lipid accumulation and gene expression in vitro.

Anderson JL, Keeley MC, Smith SC, Smith EC, Taylor RL Jr.

Poult Sci. 2014 Jun;93(6):1368-74. doi: 10.3382/ps.2013-03840.

43.

Adjunctive albuterol enhances the response to enzyme replacement therapy in late-onset Pompe disease.

Koeberl DD, Austin S, Case LE, Smith EC, Buckley AF, Young SP, Bali D, Kishnani PS.

FASEB J. 2014 May;28(5):2171-6. doi: 10.1096/fj.13-241893. Epub 2014 Jan 17.

PMID:
24443373
44.

Coronaviruses as DNA wannabes: a new model for the regulation of RNA virus replication fidelity.

Smith EC, Denison MR.

PLoS Pathog. 2013;9(12):e1003760. doi: 10.1371/journal.ppat.1003760. Epub 2013 Dec 5. Review. No abstract available.

45.

Trimeric transmembrane domain interactions in paramyxovirus fusion proteins: roles in protein folding, stability, and function.

Smith EC, Smith SE, Carter JR, Webb SR, Gibson KM, Hellman LM, Fried MG, Dutch RE.

J Biol Chem. 2013 Dec 13;288(50):35726-35. doi: 10.1074/jbc.M113.514554. Epub 2013 Oct 31.

46.

Understanding CYP2D6 and its role in tamoxifen metabolism.

Smith EC.

Oncol Nurs Forum. 2013 Nov;40(6):547-8. doi: 10.1188/13.ONF.547-548. Review.

PMID:
24161632
47.

An erythroid enhancer of BCL11A subject to genetic variation determines fetal hemoglobin level.

Bauer DE, Kamran SC, Lessard S, Xu J, Fujiwara Y, Lin C, Shao Z, Canver MC, Smith EC, Pinello L, Sabo PJ, Vierstra J, Voit RA, Yuan GC, Porteus MH, Stamatoyannopoulos JA, Lettre G, Orkin SH.

Science. 2013 Oct 11;342(6155):253-7. doi: 10.1126/science.1242088.

48.

Atherosclerosis-susceptible and atherosclerosis-resistant pigeon aortic cells express different genes in vivo.

Anderson JL, Ashwell CM, Smith SC, Shine R, Smith EC, Taylor RL Jr.

Poult Sci. 2013 Oct;92(10):2668-80. doi: 10.3382/ps.2013-03306.

PMID:
24046414
49.

Fear of missing out--a tribute to Zach Orman.

Smith EC.

Wilderness Environ Med. 2013 Dec;24(4):450-1. doi: 10.1016/j.wem.2013.07.005. Epub 2013 Sep 14. No abstract available.

PMID:
24041622
50.

Coronaviruses lacking exoribonuclease activity are susceptible to lethal mutagenesis: evidence for proofreading and potential therapeutics.

Smith EC, Blanc H, Surdel MC, Vignuzzi M, Denison MR.

PLoS Pathog. 2013 Aug;9(8):e1003565. doi: 10.1371/journal.ppat.1003565. Epub 2013 Aug 15. Erratum in: PLoS Pathog. 2014 Jul;10(7):e1004342. Surdel, Matthew C [added].

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