Gyula Acsadi, MD, PhD

Professor of Pediatrics and Neurology, University of Connecticut School of Medicine

• Kim J, Liao Y-H, Ionita C, Bale AE, Darras B, Acsadi G: Mitochondrial Membrane Protein-Associated Neurodegeneration Mimicking Juvenile Amyotrophic Lateral Sclerosis. Ped Neur. 2016;64:83-86
• Jani-Acsadi A; Ounpuu S; Pierz K, Acsadi G: Pediatric Charcot-Marie-Tooth Disease. Ped Clin North Am. 2015 2015 Jun;62(3):767-786.
• Rossor AM, Oates EC, Salter HK, Liu Y, Murphy SM, Schule R, Gonzalez MA, Scoto M, Phadke R, Sewry CA, Houlden H, Jordanova A, Tournev I, Chamova T, Litvinenko I, Zuchner S, Herrmann DN, Blake J, Sowden JE, Acsadi G, Rodriguez ML, Menezes MP, Clarke NF, Auer Grumbach M, Bullock SL, Muntoni F, Reilly MM, North KN. Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2. Brain. 2015 Feb;138(Pt 2):293-310.
• Ounpuu S, Garibay E, Solomito M, Bell K, Pierz K, Thomson J, Acsadi G, Deluca P. A comprehensive evaluation of the variation in ankle function during gait in children and youth with Charcot-Marie-tooth disease. Gait Posture. 2013 Sep;38(4):900-6
• Acsadi G, Moore SA, Chéron A, Delalande O, Bennett L, Kupsky W, El-Baba M, Le Rumeur E, Hubert JF. Novel mutation in spectrin-like repeat 1 of dystrophin central domain causes protein misfolding and mild Becker muscular dystrophy. J Biol Chem 2012 May 25;287(22):18153-62.
• Burns J, Finkel R, de Laura M, Estilow T, Shy R, pallant J, Lel M, Montoni F, Reilly M, Pareyson D, Acsadi G, Ouvrier R, Shy M.:Validation of the CMT Pediatric Scale as an outcome measure of disability. Ann Neurol 2012 May;71(5):642-52.

Dr. Acsadi is a member of the Scientific Review Committee of the Child Neurology Society, a Fellow of the American Academy of Neurology, a member of the International Child Neurology Association, and serves on the editorial board of Pediatric Neurology.