GyulaAcsadiMDPhD, FAAN

PubMed

• 64 citations
  Phenotypic variability of childhood Charcot-Marie-Tooth disease
  Kayla M.D. Cornett, Manoj P. Menezes, Paula Bray, Mark Halaki, R Shy
  JAMA Neurology. 2016-06-01
• 133 citations
  Mutations in BICD2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic Paraplegia
  Emily C. Oates, Alexander M. Rossor, Majid Hafezparast, Michael A. Gonzalez, Fiorella Speziani
  American Journal of Human Genetics. 2013-06-06
• 31 citations
  Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study.
  Menelaos Pipis, Shawna M. E. Feely, James M. Polke, M Skorupinska, Laura Perez
  Brain. 2020-12-01

Journal Articles

• Development and Validation of the Charcot-Marie-Tooth Disease Infant Scale  
  Michael E Shy, Rosemary Shy, Gyula Acsadi, Brain
• Mitochondrial Membrane Protein-Associated Neurodegeneration Mimicking Juvenile Amyotrophic Lateral Sclerosis  
  Kim J, Liao Y-H, Ionita C, Bale AE, Darras B, Acsadi G, Ped Neur, 1/1/2016
• Pediatric Charcot-Marie-Tooth Disease  
  Jani-Acsadi A; Ounpuu S; Pierz K, Acsadi G, Ped Clin North Am, 1/1/2015
• Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2  
  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, Zuchn..., Brain, 1/1/2015
• Management of juvenile myasthenia gravis  
  Ionita CM, Acsadi G, Pediatr Neurol, 1/1/2013
• SMA-MAP: a plasma protein panel for spinal muscular atrophy  
  Kobayashi DT, Shi J, Stephen L, Ballard KL, Dewey R, Mapes J, Chung B, McCarthy K, Swoboda KJ, Crawford TO, Li R, Plasterer T, Joyce C; Biomarkers for Spinal Muscular ..., PLoS One, 1/1/2013
• A comprehensive evaluation of the variation in ankle function during gait in c hildren and youth with Charcot-Marie-tooth disease  
  Ounpuu S, Garibay E, Solomito M, Bell K, Pierz K, Thomson J, Acsadi G, Deluca P, Gait Posture, 1/1/2013
• Symmetry of foot alignment and ankle flexibility in paediatric Charcot-Marie-Tooth disease  
  Burns J, Ouvrier R, Estilow T, Shy R, Laura M, Eichinger K, Muntoni F, Reilly M, Pareyson D., Acsadi G, Shy M, Finkel R, Clinical Biomechanics, 1/1/2012
• Candidate proteins, metabolites and transcripts in the Biomarkers for Spinal Muscular Atrophy (BforSMA) clinical study  
  Finkel RS, Crawford TO, Swoboda KJ, Kaufmann P, Juhasz P, Li X, Guo Y, Li RH, Trachtenberg F, Forrest SJ, Kobayashi DT, Chen KS, Joyce CL, Plasterer T; Pilot Study of ..., PLoS One, 1/1/2012
• Novel mutation in spectrin-like repeat 1 of dystrophin central domain causes protein misfolding and mild Becker muscular dystrophy  
  Acsadi G, Moore SA, Cheron A, Delalande O, Bennett L, Kupsky WL, El-Baba M, Le Rumeurr E, Hubert J-F, J Biol Chem, 1/1/2012
• Validation of the Charcot-Marie-Tooth Disease Pediatric Scale as an outcome measure of disability  
  Burns J, Ouvrier R, Estilow T, Shy R, Laura M, Pallant JF, Lek M, Muntoni F, Reilly MM, Pareyson D, Acsadi G, Shy M, Finkel RS, Ann Neurol, 1/1/2012
• Management of pediatric central nervous system demyelinating disorders: consensus of United States neurologists  
  Waldman AT, Gorman MP, Rensel MR, Austin TE, Hertz DP, Kuntz NL; Network of Pediatric Multiple Sclerosis Centers of Excellence of National Multiple Sclerosis Society, J Child Neurol, 1/1/2011
• Consensus statement on standard of care for congenital muscular dystrophies  
  Wang CH, Bonnemann CG, Rutkowski A, Sejersen T, Bellini J, Battista V, Florence JM, Schara U, Schuler PM, Wahbi K, Aloysius A, Bash RO, Beroud C, Bertini E, Bushby K, ..., J Child Neurol, 1/1/2010
• Metabolic stroke in childhood: diagnostic approach and suggestions for therapy  
  Horvath R, Lochmüller L, Acsadi G, J. Ped. Neurol, 1/1/2010
• Pediatric hemiplegic migraine: susceptibility weighted and MR perfusion imaging abnormality  
  Altinok D, Agarwal A, Acsadi G, Luat A, Tapos D, Pediatr Radiol, 1/1/2010
• Mitochondrial dysfunction in a neural cell model of spinal muscular atrophy  
  Acsadi G, Lee I, Li X, Khaidakov M, Pecinova A, Parker GC, Huttemann M, J Neuroscience Res, 1/1/2009
• Treatment of seizures in childhood  
  Sivaswamy L, Acsadi G, Jiang H, Therapy, 1/1/2009
• Increased survival and function of SOD-1 mice after GDNF gene transfer  
  Acsadi G, Anguelov A, Yang H, Toth G, Thomas R, Jani A, Wang Y, Ianakova E, Mohammad S, MD, Lewis RA, Shy ME, Human Gene Therapy, 1/1/2002
• Gene transfer of glial cell derived neurotrophic factor and cardiotrophin-1 protects PC12 cells from injury: Involvement of the phosphatidylinositol 3-kinase and mitog...  
  Toth G., Yang H, Anguelov,R, Wang Y, Vetreano J, Acsadi G, J Neurosci Res, 1/1/2002
• Modulation of cell-mediated immunity prolongs adenovirus-mediated transgene expression in sciatic nerve  
  Jani A, Menichella D, Jiang H, Chbihi T, Acsadi G, Shy ME, Kamholz J, Hum Gene Ther, 1/1/1999
• Laminin a2 muscular dystrophy; Genotype/Phenotype studies of 22 Patients  
  Pegoraro, E., Marks, H., Garcia, C.A.., Crawford, T., Mancias, P., Connolly, A.M., Fanin, M., Martinello, F., Trevisian, C.P., Angellini, C., Stella, A., Scavina, M., ..., Neurology, 1/1/1998
• Interferons impair early transgene expression by adenovirus-mediated gene transfer in muscle cells  
  Acsadi G, O'Hagan D, Lochmuller H, Prescott S, Larochelle N, Nalbantoglu J, Jani A, Karpati G, J Mol Med, 1/1/1998
• Generation, validation, and large scale production of adenoviral recombinants with large size inserts such as a 63 kb human dystrophin cDNA  
  Jani A, Lochmuller H, Acsadi G, Simoneau M, Huard J, Garnier A, Karpati G, Massie B, J Virol Methods, 1/1/1997
• Toxicity of replication-defective adenoviral recombinants in dissociated cultures of nervous tissue  
  Durham HD, Lochmuller H, Jani A, Acsadi G, Massie B, Karpati G, Exp Neurol, 1/1/1996
• Phenotypic and immunologic factors affecting plasmid-mediated in vivo gene transfer to rat diaphragm  
  Petrof BJ, Acsadi G, Bourdon J, Matusiewicz N, Yang L, Am J Physiol, 1/1/1996
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Books/Book Chapters

• Medlink Neurology 
  Chapter: The Chediak-Higashi syndrome. 
  Acsadi GEditors: J Timothy Greenamyre (Original editor: Sid Gillman).
• Medlink Neurology 
  Chapter: Congenital muscular dystrophy: Merosin deficient form. 
  Acsadi GEditors: J Timothy Greenamyre (Original editor: Sid Gillman).
• Medlink Neurology 
  Chapter: Duchenne muscular dystrophy. 
  Acsadi GEditors: J Timothy Greenamyre (Original editor: Sid Gillman).
• Medlink Neurology 
  Chapter: Becker muscular dystrophy. 
  Acsadi GEditors: J Timothy Greenamyre (Original editor: Sid Gillman).
• Medlink Neurology 
  Chapter: Severe autosomal recessive congenital muscular dystrophy. 
  Acsadi GEditors: J Timothy Greenamyre (Original editor: Sid Gillman).
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Abstracts/Posters

• Episodic Encephalopathy, Paralysis, Persistent Dysarthria and Ataxia in a Family Is Associated with a Dominantly Inherited Mutation in ATP1A3.
  Acsadi G, Young R, Newcomb TM, Nelson B, Viollet L, Swoboda K, Ann Neurol, 1/1/2013
• Gait patterns in pediatric Charcot-Marie-Tooth disease.
  Acsadi G and Ounpuu S, Neurology, 1/1/2013
• Variations of Gait Patterns in Pediatric Charcot-Marie-Tooth Disease (CMT).
  Acsadi G, Ounpuu S, Garibay E, Solom M, Pierz K, Ann Neurol, 1/1/2013
• "Pelizeus-Merzbacher disease"
  Acsadi G, "Spinal muscular atrophy: A neurobiology update", 12th International Child Neurology Association Meeting, Brisbane, Australia, 1/27/2012
• "Spinal muscular atrophy"
  Acsadi G, "Spinal muscular atrophy: A neurobiology update", 12th International Child Neurology Association Meeting, Brisbane, Australia, 1/27/2012
• A Multicenter Phase II Open-Label Trial of Valproic Acid and L-Carnitine in Infants with SMA Type I.
  Swoboda KJ, Krosschell, K, Crawford T, Scott C, Kissel J, Schroth MK, Acsadi G, et al, Ann Neurol, 1/1/2012
• Congenital muscular dystrophy (CMD) frequencies in the US: an overview.
  Acsadi G, 40th Annual Child Neurology Society Meeting Scientific Program, Savannah, GA, 1/26/2011
• "Muscular dystrophy"
  Acsadi G, American Academy Annual Meeting, HI, 1/1/2011
• "Spinal muscular atrophy"
  Acsadi G, American Academy Annual Meeting, HI, 1/1/2011
• "Pediatric CMT"
  Acsadi G, American Academy Annual Meeting, HI, 1/1/2011
• Congenital muscular dystrophy (CMD) frequencies in the US: an overview.
  Eskuri JM, Stephan CM, Iannaccone ST, Andersen M, Greene M, Darras BT, Connolly AM, Anand P, Acsadi G, et al, Ann Neurol, 1/1/2011
• Development, reliability and validity of the Charcot-Marie-Tooth disease pediatric scale (CMTPedS).
  Burns J, Finkel R, Estilow T, Hiscock A, Laura M, Swingle P, Patzko A, Glanzman A, Acsadi G, et al, Neurology, 1/1/2011
• Alpha-Synuclein expression is significantly low in spinal muscular atrophy.
  Acsadi G, Swoboda K, Li X, Murphy K, Parker G, Neurology, 1/1/2011
• Novel pointmutation in R1 domain of dystrophin gene causes missfolding of dystrophin and Becker's muscular dystrophy.
  Acsadi G, Moore SA, Cheron A, Bennett L, Kupsky W, Le Rumeur E, et al, Neurology, 1/1/2011
• SMA CARNI-VAL trial part II: A prospective single-armed trial of L-Carnitine and valproic acid in ambulatory children with spinal muscular atrophy.
  Kissel JT, Scott SB, Crawford TO, Simard LR, Krosschell KJ, Acsadi G, et al, Neurology, 1/1/2011
• Electrophysiologic correlation of disease progression with spinal cord pathology in hSOD1G93A rats.
  Jani-Acsadi A, Li X, Fuerst D, Song F, Loeb J, Lewis R, Acsadi G, Neurology, 1/1/2011
• Development and validation of the Charcot-Marie-Tooth Disease Pediatric Scale (CMTPed).
  Burns J, Shy R, Estilov T, Acsadi G, Glanzman A, Ouvrier R, Muntoni F, Reilly M, Shy M, Finkel R, Neurology, 1/1/2010
• Congenital Myasthenic Syndrome (CMS) caused by mutations in Choline Acetyltransferase (CHAT). Clinical features, genetic analysis and expression studies in 11 patients.
  Shen X-M, Bergman J, Acsadi G, Crawford T, Iannaccone S, Karaca E, Khoury C, Mah JK, Edwardson S, Rodgers D, Engel AG, Neurology, 1/1/2010
• Maximum ulnar compound motor action potential (CMAP) is related to motor function in children with spinal muscular atrophy: Report from the SMA CARNI-VAL clinical trial.
  Lewelt AJ, Krosschell K, Scott C, Kissel J, Ceawford TO, Acsadi G, D'Anjou G, Elsheik B, Rayne SP, Lasalle BA, Schroth MK, Simard LR, Maczulski JA, Swoboda KJ, Neurology, 1/1/2010
• Mitochondrial dysfunction in a neural cell model of spinal muscular atrophy.
  Acsadi G, Li X, Lee I, Pecinova A, Domkowski A, Huttemann M, Parker G, Neurology, 1/1/2009
• Mitochondrial dysfunction and morphological abnormalities in cellular models for SMA.
  Acsadi G, Li X, Brenner C, Parker G, Silver RB, Ann Neurol, 1/1/2009
• Electrophysiological characterization of disease progression in SODG93A rats.
  Jani-Acsadi A, Li X, Lewis R, Loeb J, Acsadi G, Amyotrophic Lateral Sclerosis, 1/1/2009
• Constitutive Role of Mitochondria in Spinal Muscular Atrophy (SMA).
  Acsadi G, Li X, Hutterman M, Dombkowski A; Parker G, Neurology, Academy of Neurology Annual Meeting, Chicago, IL, 1/12/2008
• Clinical presentation of polymerase gamma (POLG) mutations in childhood.
  Leleszi E, Acsadi G, Neurology, Academy of Neurology Annual Meeting, Chicago, IL, 1/12/2008
• Expression profiling of SMN-depleted NSC-34 neurons reveals the involvement of genes associated with nervous system development and apoptosis.
  Acsadi G, Li X, Anguelov R, Dombkowski A, Hutteman M, Parker M, Ann Neurol, Childneurology Society Annual Meeting, Quebec City, Canada, 1/1/2007
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Lectures

• Neurobiology of Spinal Muscular Atrophy 
  1/1/2014
• Hopkins syndrome. 
  1/1/2014
• CNS Channelopathies 
  1/1/2014
• Update on Spinal Muscular Atrophy 
  1/1/2013
• Spinal muscular atrophy: Molecular biology and treatment advances. 
  Tokyo, Japan - 1/1/2013
• Pediatric Charcot-Marie-Tooth Disease 
  1/1/2013
• "Neuromuscular diseases" 
  Connecticut Children's Medical Center, Hartford, CT - 1/20/2012
• "Pediatric CMT" 
  Columbia University, New York City - 1/16/2012
• Spinal Muscular Atrophy. 
  Jackson Laboratories, ME - 1/1/2012
• "An analysis of gait deviations in pediatric Charcot-Marie-Tooth disease using computerized motion analysis" 
  The Bolger Center, Potomac, MD - 1/29/2011
• "Pediatric neuropathy scoring system for CMT" 
  Institute of Child Health, Great Ormond Street, London, United Kingdom - 1/3/2011
• Neuromuscular diseases. 
  Danbury Hospital - 1/1/2011
• Pediatric CMT 
  Hartford Hospital - 1/1/2011
• The changing natural history of neuromuscular diseases. 
  Children's Hospital of Michigan - 1/1/2010
• Childhood Myasthenia Gravis 
  Birmingham, MI - 1/1/2010
• Congenital muscular dystrophy. 
  Children's Hospital of Michigan - 1/1/2009
• Motor Neuron Diseases 
  Birmingham, MI - 1/1/2009
• Outcome measures and clinical trials in Charcot-Marie-Tooth Disease. 
  Naarden, The Netherlands - 1/1/2009
• Muscular dystrophies. 
  Dell Children's Hospital, Austin, TX - 1/1/2009
• Spinal Muscular Atrophy: Molecular mechanisms and new treatments. 
  Hartford Hospital, CT - 1/1/2009
• SMA mechanism and new treatments. 
  Connecticut Children's Medical Center, Hartford, CT - 1/1/2008
• Update on spinal muscular atrophy. 
  University of Michigan - 1/1/2005
• Gene therapy update for neuromuscular diseases. 
  Grand Rapids, MI - 1/1/2000
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Other

• "Direct gene transfer into skeletal muscle: Gene therapeutic model for Duchenne muscular dystrophy" 
  Acsadi G, PhD Thesis, Hungarian Academy of Sciences
  Budapest, Hungary - 1/1/1993