2023 Department of Pediatrics Academic Annual Report

2023 PUBLICATIONS HIGH-IMPACT PUBLICATIONS FASEB J. 2023 Oct;37(10):e23198. DOCK3 regulates normal skeletal muscle regeneration and glucose metabolism. Adrienne Samani, Muthukumar Karuppasamy, Katherine G English, Colin A Siler, Yimin Wang, Jeffrey J Widrick, Matthew S Alexander. Adv Biol (Weinh). 2023 Jul 12;e2300157. Tetraspanin CD82 Associates with Trafficking Vesicle in Muscle Cells and Binds to Dysferlin and Myoferlin. Tatiana Fontelonga, Arielle J Hall, Jaedon L Brown, Youngsook L Jung, Matthew S Alexander, Janice A Dominov, Vincent Mouly, Natassia Vieira, Mayana Zatz, Mariz Vainzof, Emanuela Gussoni. Methods in Molecular Biology. 2023. Book Chapter. 2023. Characterization and phenotypic assessment of zebrafish disease models for splice modulation studies. Thomas HR, English KG, Alexander MS, and Parant JM. Mol Ther Nucleic Acids. 2023 May 25;32:841-842. Restoration of brain dystrophin using tricyclo-DNA ASOs restores neurobehavioral deficits in DMD mice. Muthukumar Karuppasamy, Matthew S Alexander. Matthew Alexander, PhD., was named to the TREAT-NMD advisory board in 2023. Dr. Alexander is the UAB GBS CMDB Theme recruitment chair for the past two years and has served on multiple faculty recruitment searches. The Alexander Lab received the Muscular Dystrophy Association (MDA) Impact Award from the Birmingham chapter for their work on neuromuscular diseases. Michael Lopez, M.D., Ph.D., is serving as a reviewing editor for Frontiers in Pediatrics and Neurology. Dr. Lopez serves on the Publication Highlights Committee for the World Muscle Society. Ismail Mohamed, M.D., serves as a board member and treasurer of the American Clinical MEG Society. Scott Turner, DNP, is the president for the Association of Child Neurology Nurses. Dr. Turner is also the co-chair for the American Headache Society Pediatric Primary Care Workgroup. • Matthew Alexander, Ph.D. —7th Glycosylation in Muscular Dystrophies Conference (Charlotte, North Carolina); University of Florida, Myology Institute and the Department of Pharmacology and Therapeutics (invited seminar). • Leon Dure, M.D. —Stanford University Neurology Grand Rounds, A Taxonomy of Movement Disorders, May, 2023. • Mohamed Ismail, M.D. —MEG: Utility in Epilepsy Surgery. Second Texas MEG Society Meeting, Fort Worth, Texas, May 2023. • Mohamed Ismail, M.D. —Incorporation of MEG in epilepsy surgery: case examples workshop, American Clinical Neurophysiology Society Annual Meeting. Austin, Texas, March 2023. • Michael Lopez, M.D., Ph.D. —Child Neurology Society Annual Meeting 2023, Neuromuscular Year in Review. Click here for the full list of publications from the division faculty in 2023. EXTRAMURAL AWARDS, LEADERSHIP ROLES INVITED TALKS

GRANTS AWARDED IN 2023

INVESTIGATOR PROJECT TITLE

SPONSOR

DIRECT AWARDED

Alexander, Matthew Scott (co-I)

Decoding the nutrient and metabolic requirements of skeletal muscle cells in ALS.

AMC21 (UAB SoM)

$150,000

Lopez, Michael Alonzo

A Randomized, Double-Blind, Dose Finding and Comparison Study of the Safety and Efficacy of a High- Dose Eteplirsen, Preceded by an Open- Label Dose Escalation, in Patients with Duchenne Muscular Dystrophy with Deletion Mutations Amendable to Exon 51 Skipping

Sarepta AREPTA THERAPEUTICSherapuetics

$108,205

2023 Academic Annual Report

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