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Office
405 Meadowlands Dr
3000 Erwin Road
Hillsborough, NC 27278Phone+1 984-283-3524Fax+1 919-660-8640- Is this information wrong?
Education & Training
- Duke University HospitalFellowship, Neuromuscular Medicine (Neurology), 2007 - 2008
- Duke University HospitalResidency, Child Neurology, 2004 - 2007
- University of Mississippi Medical CenterResidency, Pediatrics, 2002 - 2004
- University of Mississippi School of MedicineClass of 2002, MD
- University of North Carolina at Chapel HillB.A.
Certifications & Licensure
- NC State Medical License 2004 - 2024
- American Board of Psychiatry and Neurology Neurology with Special Qualification in Child Neurology
Clinical Trials
- Phase 2a Extension Study of Ataluren (PTC124) in Duchenne Muscular Dystrophy (DMD) Start of enrollment: 2008 Aug 13
- Becker Muscular Dystrophy - A Natural History Study to Predict Efficacy of Exon Skipping Start of enrollment: 2012 Apr 01
- Duchenne Muscular Dystrophy Tissue Bank for Exon Skipping Start of enrollment: 2012 Sep 01
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Publications & Presentations
PubMed
- Parental perspectives of episodic irritability in an ultra-rare genetic disorder associated with NACC1.Kelly Schoch, Allyn McConkie-Rosell, Nicole Walley, Vikas Bhambhani, Timothy Feyma, , Carolyn E Pizoli, Edward C Smith, Queenie K-G Tan, Vandana Shashi> ;Orphanet Journal of Rare Diseases. 2023 Sep 4
- Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy.Vandana Shashi, Kelly Schoch, Rebecca Ganetzky, Peter G Kranz, Neal Sondheimer, M Louise Markert, Heidi Cope, Azita Sadeghpour, Philip Roehrs, Thomas Arbogast, Colleen...> ;Genetics in Medicine. 2023 Sep 1
- 3 citationsEfficacy and Safety of Viltolarsen in Boys With Duchenne Muscular Dystrophy: Results From the Phase 2, Open-Label, 4-Year Extension Study.Paula R Clemens, Vamshi K Rao, Anne M Connolly, Amy D Harper, Jean K Mah, Craig M McDonald, Edward C Smith, Craig M Zaidman, Tomoyuki Nakagawa, , Eric P Hoffman> ;Journal of Neuromuscular Diseases. 2023 Jan 1
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Journal Articles
- Targeted re-sequencing emulsion PCR panel for myopathies: results in 94 casesPunetha J, Kesari A, Uapinyoying P, Giri M, Clarke N, Waddell L, North K, Ghaoui R, O'Grady G, Oates E, Sandaradura S, Boennemann C, Donkervoort S, Plotz P, Smith EC, ..., J Neuromuscul Dis, 1/1/2016
- Assessment of Obstetric Brachial Plexus Injury with Pre-Operative UltrasoundSmith EC, Xixis K, Grant GA, Grant SA, Muscle & Nerve, 1/1/2016
- Case report of novel rod domain duplication in patient with X-linked cardiomyopathyChamberlain R, Smith E, Campbell J, Pediatric Neurology, 1/1/2015
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Abstracts/Posters
- Ultrasound assessment of obstetric brachial plexus injury.Smith E, AAN 67th Annual Meeting, 1/1/2015
- Novel dystrophin rod domain duplication in patient with x-linked dilated cardiomyopathy.Smith E, North Carolina Pediatric Society, 1/1/2014
- Pilot study of adjunctive albuterol in late-onset Pompe disease reveals safety and efficacy from upregulated mannose-6-phosphate receptor expression.Smith E, International GSD Meeting, Heidelberg, Germany, 1/1/2014
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Press Mentions
- Pfizer Launches Phase 1b Clinical Trial for Mini-Dystrophin Gene Therapy to Treat DMDApril 13th, 2018
- Pfizer Doses First Patient Using Investigational Mini-Dystrophin Gene Therapy for the Treatment of Duchenne Muscular DystrophyApril 12th, 2018
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