Edward Clinton Smith

基本信息

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职业迁徙

个人简介

My clinical research interests focus on neuromuscular diseases. Neuromuscular diseases are a large group of disorders with various causes sharing one common feature: weakness.

研究兴趣

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Reductions in Functional Muscle Mass and Ability to Ambulate in Duchenne Muscular Dystrophy from Ages 4 to 24 Years

William J. Evans,Marc Hellerstein,Russell J. Butterfield,Edward Smith,Michela Guglieri, Natalie Katz, Brittany Nave, Lauren Branigan, Stephanie Thera, Kalista L. Vordos, Laura Behar,Marianela Schiava,Meredith K. James,Tyler Field,Hussein Mohammed,Mahalakshmi Shankaran

JOURNAL OF PHYSIOLOGY-LONDONno. 19 (2024): 4929-4939

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Sarah Nelson Potter,Brooke Migliore,Javan Carter, Veronica R. Copeland,Edward C. Smith,Holly L. Peay,Katerina S. Kucera

International Journal of Neonatal Screeningno. 2 (2024): 41-41

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Reductions in Functional Muscle Mass Measured Using D3creatine Dilution and Ability to Ambulate in Duchenne Muscular Dystrophy from Ages 4 – 24 Years

William J. Evans,Marc Hellerstein,Russell J. Butterfield,Edward Smith,Michela Guglieri, Natalie Katz, Brittany Nave, Lauren Branigan, Stephanie Thera, Kalista L. Vordos, Laura Behar,Marianela Schiava,Meredith James,Tyler Field,Hussein Mohammed,Mahalakshmi Shankaran

crossref（2024）

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Efficacy and Safety of Vamorolone over 48 Weeks in Boys with Duchenne Muscular Dystrophy

NEUROLOGYno. 5 (2024)

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Two Years of Newborn Screening for Duchenne Muscular Dystrophy As a Part of the Statewide Early Check Research Program in North Carolina

Katerina S. Kucera,Beth Lincoln Boyea,Brooke Migliore,Sarah Nelson Potter,Veronica R. Robles,Oksana Kutsa,Heidi Cope,Katherine C. Okoniewski,Anne Wheeler,Catherine W. Rehder,Edward C. Smith,Holly L. Peay

GENETICS IN MEDICINEno. 1 (2024)

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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,David G. Jackson,Kristen L. Deak,Chi D. Hornik,Mai K. Elmallah,Carolyn E. Pizoli,Edward C. Smith, Khoon Ghee Queenie Tan,Marie T. Mcdonald

HUMAN GENETICS AND GENOMICS ADVANCESno. 3 (2024)

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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,Edward C. Smith,Robert K. Lark,Anne F. Buckley,Vaidehi Jobanputra,Stanley F. Nelson,Vandana Shashi

AMERICAN JOURNAL OF MEDICAL GENETICS PART Ano. 11 (2024)

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Screening Data from 19 Patients with Late‐onset Pompe Disease for a Phase I Clinical Trial of AAV8 Vector‐mediated Gene Therapy

William B Hannah,Laura E Case,Edward C Smith,Crista Walters,Deeksha Bali,Priya S Kishnani,Dwight D Koeberl

JIMD reports（2023）

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P295: Episodic Irritability in an Ultra-Rare Genetic Disorder Associated with NACC1: Imperative to Increase Awareness and Formulate Better Therapeutic Interventions

Kelly Schoch,Allyn McConkie-Rosell,Nicole Walley,Vikas Bhambhani,Timothy Feyma,Edward Smith, Khoon Ghee Queenie Tan,Vandana Shashi

Genetics in Medicine Openno. 1 (2023): 100323-100323

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