EdwardC.SmithMD

PubMed

• Reanalysis of RNA sequencing data ends diagnostic odyssey and expands the phenotypic spectrum of congenital titinopathy.
  Lucy McNamee, Kelly Schoch, Alden Huang, Hane Lee, Lee-Kai Wang
  American Journal of Medical Genetics. Part A. 2024-11-01
• The severity of MUSK pathogenic variants is predicted by the protein domain they disrupt.
  Benjamin T Cocanougher, Samuel W Liu, Ludmila Francescatto, Alexander Behura, Mariele Anneling
  HGG Advances. 2024-07-18
• 2 citations
  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
  Orphanet Journal of Rare Diseases. 2023-09-04

Journal Articles

• Assessment of Obstetric Brachial Plexus Injury with Pre-Operative Ultrasound  
  Smith EC, Xixis K, Grant GA, Grant SA, Muscle & Nerve, 1/1/2016
• Targeted re-sequencing emulsion PCR panel for myopathies: results in 94 cases  
  Punetha 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
• Case report of novel rod domain duplication in patient with X-linked cardiomyopathy  
  Chamberlain R, Smith E, Campbell J, Pediatric Neurology, 1/1/2015
• Ultrasound of cervical roots and brachial plexus in neonates  
  Grant S, Smith EC, Muscle & Nerve, 1/1/2015
• Ataluren treatment of patients with nonsense mutation dystrophinopathy  
  Bushby K, Finkel R, Wong B and the PTC124-GD-007-DMD STUDY GROUP, Muscle & Nerve, 1/1/2014
• Adjunctive albuterol enhances the response to enzyme replacement therapy in late-onset Pompe disease  
  Koeberl D, Austin S, Case L, Smith E, Buckley A, Young S, Bali D, Kishnani P, FASEB Journal, 1/1/2014
• Reliability and validity of the TIMPSI for infants with spinal muscular atrophy type I  
  Krosschell KJ, Maczulski JA, Scott C and the Project Cure SMA Investigators Network, Pediatr Phys Ther, 1/1/2013
• Electroencephalographic and Seizure Manifestations in Two Patients with Folate Receptor Autoimmune Antibody-Mediated Primary Cerebral Folate Deficiency  
  Steele S, Cheah SM, Veerapandiyan A, Gallentine W, Smith EC, Mikati M, Epilepsy Behav, 1/1/2012
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  Veerapandiyan A, Winchester S, Gallentine W, Smith EC, Kansagra S, Hyland K, Mikati M, Epilepsy & Behavior, 1/1/2011
• Myasthenic syndrome caused by plectinopathy  
  Selcen D, Juel V, Hobson-Webb L, Smith EC, Stickler D, Bite A, Ohno K, Engel A, Neurology, 1/1/2011
• Ischemic stroke because of intracranial fibromuscular dysplasia  
  Shea K, Hoang J, Smith EC, Pediatric Neurology, 1/1/2011
• Metabolic myopathies: clinical features and diagnostic approach  
  Smith EC, El-Gharbawy A, Koeberl D, Rheum Dis Clin N Amer, 1/1/2011
• Bjornstad syndrome in a boy with sensorineural hearing loss, pili torti, mental retardation, seizures and complex III deficiency  
  Spencer-Manzon M, Smith EC, Koeberl DD, Mol Genet Metab, 1/1/2010
• Two children with "dropped head" syndrome due to lamin A/C mutations  
  Chemla JC, Kanter RJ, Carboni MP, Smith EC, Muscle and Nerve, 1/1/2010
• Trichothiodystrophy with dysmyelination and central osteosclerosis  
  Harreld JH, Smith EC, Prose N, Puri PK, Barboriak D, Am J Neuroradiol, 1/1/2010
• Pseudometabolic presentation of dystrophinopathy due to a novel missense mutation  
  Veerapandiyan A, Shashi V, Yong-Hui J, Gallentine WB, Schoch K, Smith EC, Muscle and Nerve, 1/1/2010
• Ruptured maxillary retention cyst: cause of unilateral rhinorrhea after trauma  
  Hoang JK, Smith EC, Barboriak DP, Am J Neuroradiol, 1/1/2009
• Myopathy: presentation and evaluation of metabolic causes  
  Smith E, Koeberl D, Rheumatologist, 1/1/2009
• Aortoarteritis and sensorineural hearing loss in an adolescent black male  
  Smith, JC, Peck, JE, Ray, LI, and Smith, EC, Am J Otolaryngology, 1/1/2005
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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
• A pilot study of ultrasonography of the median nerve and flexor retinaculum in Hurler syndrome.
  Smith E, AANEM Annual Meeting, 1/1/2013
• A multicenter phase II open-label trial of L-carnitine and valproic acid in infants with spinal muscular atrophy type I.
  Smith E, Annual ANA Meeting, 1/1/2012
• Why 5-methyl tetrahydrofolate may be preferred to folinic acid in severe MTHFR deficiency complicated by cerebral folate deficiency. Results of an "n-1-clinical trial".
  Smith E, SIMD Annual Meeting, 1/1/2011
• EEG manifestations of pyridoxal-5'-phosphate dependent epilepsy.
  Smith E, AES Annual Meeting, 1/1/2010
• Reliability of the TIMPSI for infants with Type I SMA.
  Smith E, FSMA 14th Annual Research Group Meeting, 1/1/2010
• Fatal muscular dystrophy, congenital myasthenic syndrome and epidermolysis bullosa simplex due to plectin deficiency.
  Smith E, AAN 62nd Annual Meeting, 1/1/2010
• Bjornstad syndrome in a boy with pili torti and complex III deficiency.
  Smith E, 27th Annual SERGG Meeting, 1/1/2009
• Dropped head syndrome in a child due to a lamin A/C mutation.
  Smith E, AAN 61st Annual Meeting, 1/1/2009
• Nerve ultrasound in motor conduction block: pre-and post-treatment findings.
  Smith E, AANEM 55th Annual Meeting, 1/1/2008
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