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Publications

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Rett Syndrome, MECP2 Duplication, and Rett-related Disorders Consortium

Books/Chapters

  1. Tarquinio DC, Percy AK.  Rett Disorder. In APPI Textbook of Autism Spectrum Disorder. (eds) E Hollander, Kolevzon A, Coyle JT. 2010.
  2. Calfa G, Percy AK, Pozzo-Miller L. Dysfunction of the Methyl-CpG-binding Protein MECP2 in Rett Syndrome. In Patho-Epigenetics. (eds) J Minarovits and HH Niller. Springer, NY. 2012, pp. 43-69.
  3. Chapleau CA, Lane J, Pozzo-Miller L, and Percy AK. Defining and Diagnosing Rett Syndrome: Correlating Symptoms and Pathogenesis with Autism. In: Patel V., Preedy V., Martin C. (Ed.) The Comprehensive Guide to Autism: SpringerReference (www.springerreference.com). Springer-Verlag Berlin Heidelberg, 0. DOI: 10.1007/SpringerReference_331197 2012-07-13 20:04:37 UTC.
  4. Chapleau, C. A., Lane, J., Larimore, J, Li W, Pozzo-Miller L, and Percy AK. Recent Progress in Rett Syndrome and MeCP2 Dysfunction: Assessment of Potential Treatment Options. Future Neurology 8:21-28,2013.
  5. Percy AK, Glaze DG. The Natural History of Rett Syndrome: Building on Recent Experience. In Rett Syndrome (ed) W Kaufmann, Mac Keith Press, 2014.
  6. Percy AK. Rett Syndrome. In Encyclopedia of the Neurological Sciences. (ed) R Darrof and M Aminoff, Elsevier. Oxford. 2014.
  7. Chapleau C, Lane J, Pozzo-Miller L, Percy AK. Evaluation of Current Pharmacological Treatment Options in the Management of Rett Syndrome: From the Present to Future Therapeutic Alternatives. Current Clinical Pharmacology 8:,2013.
  8. Percy A. Rett Syndrome: Coming to Terms with Treatment. Advances in Neuroscience, vol. 2014, Article ID 345270, 20 pages, 2014. https://doi.org/10.1155/2014/345270.
  9. Pozzo-Miller L, Pati S, Percy AK. Rett syndrome: reaching for clinical trials. Invited review in Autism. (Ed) Sahin M and Neul JL. Neurotherapeutics 12:631-640, 2015.
  10. Cuddapah VA, Nwaobi SE, Percy AK, Olsen ML.  MECP2 in the regulation of neural activity: Rett syndrome pathophysiological. In, Degenerative Neurological and Neuromuscular Disease. Dove Press. 5:103-115,2015. Published on-line.
  11. Tarquinio DC and Percy AK.  Rett syndrome: clinical aspects. In Sala C, Verpelli C, eds., Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability. San Diego: Academic Press, 2016, pp. 301-323.
  12. Percy, A.K. Rett Syndrome: Seeing the Way Forward. In Health Care for people with Intellectual and Developmental Disabilities across the lifespan, 3rd Edition, Rubin IL, Joav Merrick, Donald E Greydanus and Dilip R Patel (ed), Paul H. Springer, New York, 2016, pp. 765-777.
  13. Percy A. Rett syndrome.  In, Reference Module in Neuroscience and Biobehavioral Psychology.  Elsevier. pp. 1-6, 2017. https://doi.org/10.1016/B978-0-12-809324-5.04291-7.
  14. Rodriguez LM, Percy AK, Rodriguez GJ. Silent Angels. Rett Syndrome: The Genetic Case of the Autism Spectrum Disorder. https.//churchillpress.org/.

 

Abstracts Presented at Conferences

  1. Tarquinio D, Motil K, Hou W, Glaze D, Skinner S, Neul J, Annese F, Barrish J, Geerts S, Lane J, Percy A.  Growth Charts for Rett Syndrome: Birth to 18 Years of Age. Neurology 72 (Suppl 3):A427-A428,2009.  Platform presentation American Academy of Neurology annual meeting, Seattle, WA. April, 2009.  ID: 2740AAN09D1
  2. Percy A, Lee H-S, Glaze D, Skinner S, Motil KJ, Neul J, Barrish J, Lane J, Geerts S, Annese F, Graham J, and McNair L. Profiling Scoliosis in Rett Syndrome.  Poster Presentation: Pediatric Academic Society meeting, May, 2009.
  3. Percy A, Lee H-S, Glaze D, Skinner S, Motil KJ, Neul J, Barrish J, Lane J, Geerts S, Annese F, Graham J, and McNair L. Profiling Scoliosis in Rett Syndrome.  Poster Presentation: IRSF 10th Annual Rett Syndrome Symposium, June, 2009.
  4. Percy A. Training and Career Development in Studying Rare Diseases. Clinical and Translational Science. 3:S6-7, 2010.
  5. McFarland GE, Lane JB, Percy AK.  MECP2-Duplication Disorders in Males: A Comprehensive Approach.  Poster Presentation: Conference on Clinical Research for Rare Diseases, Bethesda, MD. September, 2010.
  6. Percy A. Outcome Measures:  Looking Forward to Clinical Trials.  Platform Presentation: 2nd European Conference on Rett Syndrome.  Edinburgh, Scotland. October, 2010.
  7. Kalman L, Aradhya S, Bale S, Bayrak-Toydemir P, Buller-Burckle A, Das S, Friedman K, Iyer R, Vo T, Zvereff V, Percy A, Toji L.  Quality Assurance for Rett Syndrome Genetic Testing: Development of a genomic DNA reference material panel. Presented at American College of Medical Genetics. 2011.
  8. McFarland GE, Lane JB, Percy AK.  MECP2-Duplication Disorders in Males: A Comprehensive Approach.  Poster Presentation: IRSF Scientific Symposium, Lansdowne, VA. June, 2011.
  9. Percy AK, Beaudet AL.  RDCRC for New Therapies and New Diagnostics Consortium: Current status of longitudinal studies, clinical trials, and training. Poster Presentation: IRSF Scientific Symposium, Lansdowne, VA. June, 2011.
  10. Percy AK, Lane JB, Geerts S, Glaze DG, Neul JL, Motil KJ, Barrish JO, Skinner SA, Annese F, McNair L, Khwaja O, Barnes K.  Recent Progress in the Rett Syndrome Natural History Study. Poster Presentation: IRSF Scientific Symposium, Lansdowne, VA. June, 2011.
  11. Percy AK, UAB, Lane JB, UAB, Geerts S, UAB, Glaze DG, BCM, Neul JL, BCM, Motil KJ, BCM, Barrish JO, BCM, Skinner SA, GGC, Annese F, GGC, McNair L, Kaufmann W, CHB, Barnes K, CHB. Recent Progress in the Rett Syndrome Natural History Study. Presented at World Congress of Rett Syndrome, International Rett Syndrome Foundation, June 24, 2012.
  12. Tarquinio DC, DO, Motil KJ, MD, PhD, Hou W, PhD, Lee H-S, PhD, Glaze DG, MD, Skinner SA, MD, Neul JL, MD, PhD, Annese F, LMSW, McNair L, MS, CGC, Barrish JO, BSN, RN; Geerts SP, MS, RD; Lane JB, BSN, RN; Percy AK, MD. Growth Failure and Outcome in Rett Syndrome: Specific Growth References. Presented at World Congress of Rett Syndrome, International Rett Syndrome Foundation, June 24, 2012.
  13. Lane JB, RN, BSN, Lee H-S, PhD, Smith LW, PhD, Cheng P, MS, MPH, Percy AK, MD, Glaze DG, MD, Neul JL, MD, PhD, Motil KJ, MD, PhD, Barrish JO, RN, BSN, Skinner SA, MD, Annese F, LMSW, McNair L, MS, CGC, Graham J, RN, BSN, Kaufmann W, MD, Barnes K, BA, Krischer JP, PhD. Clinical severity and quality of life in children and adolescents with Rett Syndrome. Presented at World Congress of Rett Syndrome, International Rett Syndrome Foundation, June 24, 2012.
  14. Percy A, Lee H-S, Glaze D, Skinner S, Motil KJ, Neul J, Barrish J, Lane J, Geerts S, Annese F, Graham J, and McNair L. Scoliosis in Rett Syndrome. Presented at World Congress of Rett Syndrome, International Rett Syndrome Foundation, June 24, 2012.
  15. Kirby RS, PhD, Lane JB, BSN, Childers J, Skinner SA, MD, Annese F, LMSW, Barrish JO, BSN, Glaze DG, MD, Percy AK, MD. Longevity in Rett Syndrome. Presented at World Congress of Rett Syndrome, International Rett Syndrome Foundation, June 24, 2012.
  16. Percy AK, MD, Lane JB, RN, BSN, Lee H-S, PhD, Glaze DG, MD, Neul JL, MD, PhD, Motil KJ, MD, PhD, Skinner SA, MD, Kaufmann W, MD, Geerts S, RD, Barrish JO, RN, BSN, Annese F, LMSW, McNair L, MS, CGC, Barnes K, BA. Developmental Milestones in Rett Syndrome. Presented at World Congress of Rett Syndrome, International Rett Syndrome Foundation, June 24, 2012.
  17. Motil KJ, Caeg E, Barrish JO, Geerts S, Lane JB, Percy AK, Annese F, McNair L, Skinner S, Lee H-S, Neul JL, Glaze, DG. Gastrointestinal and Nutritional Problems Occur Frequently Throughout Life in Girls and Women with Rett Syndrome. Presented at World Congress of Rett Syndrome, International Rett Syndrome Foundation, June 24, 2012.
  18. Kalman L,Tarleton J, Percy A, Aradhya S, Bale S, Bayrak-Toydemir P, Bridges C, Buller-Burckle A, Das S, Iyer R, Vo T, Zvereff V, Toji L. Development of a genomic DNA reference material panel for Rett Syndrome Genetic Testing. Accepted to Association for Molecular Pathology, 2013 Meeting.
  19. Tarquinio DC, Kaufmann WE, Lane JB, Skinner SA, Motil KJ, Neul JL, Percy AK, Glaze DG. Longitudinal Course of Epilepsy in Rett Syndrome. Poster presented at the American Epilepsy Society meeting, December, 2013.
  20. Tarquinio DC, Hou W, Neul JL, Lane JB, Barnes K, Kaufmann WE, Motil KJ, Glaze DG, Skinner SA, Annese F, McNair L, Barrish JO, Geerts SP, Percy AK. Pediatricians diagnose Rett syndrome rarely, but earlier than subspecialists. Poster presented at SERC/SERGG meeting, July 2014.
  21. Killian JT, Tarquinio DC, Lane JB, Glaze D, Kaufmann WE, Skinner SA, Neul JL, Percy AK. Pubertal Development in Rett Syndrome Deviates from Typical Females. Poster presented at SERC/SERGG meeting, July 2014.
  22. Sajan SA, Jhangiani SN, Gibbs RA, Lupski JR, Glaze D, Kaufmann WE, Skinner SA, Friez M, Percy AK, Neul JL. Identifying novel genes that cause Rett syndrome by trio-based exome sequencing of MECP2-negative patients. AJMG, 2014.
  23. Jones NE, Neul JL, Percy A, Glaze DG, Lane J, Feyma T, Beisang A, Snape M, Horrigan J. Improving outcome measures for Rett Syndrome (RTT) clinical trials: Development of the RTT Caregiver Inventory and CSS/MBA Change Indices. Poster presented at 13th Rett Syndrome Symposium, June 25, 2014.
  24. Sajan SA, Jhangiani SN, Muzny DM, Gibbs RA, Lupski JR, Glaze DG, Kaufmann WE, Skinner SA, Friez MJ, Percy AK, Neul JL. Identifying novel genes that cause Rett syndrome by trio-based genome sequencing of MECP2 mutations-negative patients. Submitted to the American Society of Human Genetics, 2014.
  25. Tarquinio DC, Geerts SP, Lee H, Glaze DG, Skinner SA, Neul JL, McNair L, Barrish JO, Lane JB, Percy, AK, Motil KJ. Body Composition Patterns in Rett Syndrome. Presented at RDCRN CRRD Training meeting, November 4, 2016.
  26. Neul J, Glaze D, Percy A, Imas O, Jordan KG, Stein P, Feyma T, Beisang A, Yaroshinsky A, Glass L, Jones NE, Horrigan J. Physiologic responses to treatment with NNZ-2566 in Rett syndrome. Submitted to EAN, Presented as Poster. 2015.
  27. Glaze D, Neul J, Percy A, Feyma T, Beisang A, Yaroshinksy A, Stoms G, Imas O Jordan KG, Stein P, Glass L, Jones NE, Horrigan J. NNZ-2566: A Novel Experimental Treatment for Adolescent and Adult Females with Rett Syndrome. Submitted to AAN, Presented as Poster. 2015.
  28. Percy A, Tarquinio D, Hughes C, Neul JL, Glaze SG, Feyma T, Beisang A, Horrigan J, Jones NE. Improving outcome measures for Rett Syndrome (RTT) clinical trials: Development of CSS/MBA changes indexes to assess treatment outcome. Rettsyndrome.org Research Symposium, Presented as Poster. 2016.
  29. Percy A, Neul J, Lane J, and Rett syndrome consortium. Rett Syndrome, MECP2 Duplication Disorder, and Rett-related Disorder Consortium. Presented at RDCRN CCRRD Training meeting, November 4, 2016.
  30. Percy A, Glaze DG, Neul JL, Kaufmann WE, Berry-Kravis E, Condon S, Stoms G, Glass, L, Jones, NE.  Trofinetide, A Novel IGF-1 Related Treatment for Neurodevelopmental Disorders, Demonstrates Efficacy for Children and Adolescents with Rett Syndrome. Presented as poster at CNS meeting, 2017.
  31. Percy A, Glaze, DG, Neul JL, Kaufmann WE, Berry-Kravis E, Condon S, Stoms G, Glass, L, Jones, NE.  Trofinetide, A Novel IGF-1 Related Treatment for Neurodevelopmental Disorders, Demonstrates Efficacy for Children and Adolescents with Rett Syndrome. Presented as poster at AACAP meeting, 2017.
  32. Percy A, Glaze, DG, Neul JL, Kaufmann WE, Berry-Kravis E, Condon S, Stoms G, Glass, L, Jones, NE.  Trofinetide, A Novel IGF-1 Related Treatment Demonstrates Efficacy for Children and Adolescents with Rett Syndrome. Presented as poster at NORD meeting, 2017.
  33. Tomlinson, SB, Saby JN, Armstrong DM, Marsh ED, for the 5212 Rett and Rett Related Disorders Natural History Study, Electrophysiological Biomarkers Project. Presented at AES, 2018.
  34. Leonard H, Benke T, Diener PS, Feltner D, Kaufmann P, Lieberman DN, LoCicero A, Macek T, McGill BE, Miner JK, Muehring L, Neul JL, O’Keefe J, Ouyang H, Percy A, Tarquinio DC and Downs J. Establishing Clinical Trial Readiness of the Rett Syndrome Hand Function Measure. Presentation at 2019 American Academy of Neurology meeting, 2019.
  35. Kaufmann WE, Percy AK, Lane JB, Oberman LM, Toutain S, French JA, Missling CU. Treatment of Rett Syndrome with the Sigma -1R Agonist Blarcamesine (ANAVEX®2-73): Preliminary Efficacy Analyses in Adults. Submitted to NORD, 2019.
  36. Neul J, Benke T, Berry-Kravis E, Glaze D, Percy A, Corriveau J, Youakim J. Trofinetide: a Novel Approach to Rett Syndrome. Submitted to American Academy of Neurology meeting, 2020.
  37. Medic N, Williams K, Roibu C, Swann R, Anand R, Else L, Kaminsky S, Bartolotta T, Curfs L, Mariotti O, Neul J, Nues P, Percy A, Sharma G, Townsend G, Rüdell K.  The Rett Syndrome Burden of Illness Survey: Results from Cognitive Debriefing interviews. Submitted to International Society for Quality of Life Research (ISOQOL).
  38. Neul J, Percy A, Benke T, Berry-Kravis E, Glaze D, Jones n, Corriveau J, Youakim J. Trofinetide: a Novel Approach to Rett Syndrome. Submitted to Child Neurology Society Meeting, 2020.

 

Journal Articles

  1. Glaze DG, Neul JL, Percy A, Feyma T, Beisang A, Yaroshinksky A, Stoms G, Zuchero D, Horrigan J, Glass, L, Jones NE.  A Double-Blind, Randomized, Placebo-Controlled Clinical Study of Trofinetide in the Treatment of Rett Syndrome. Pediatr Neurol 76:37-46, 2017. [PMID: PMC28964591]
  2. Kahanovitch U, Cuddapah V, Pacheco N, Holt L, Mulkey D, Percy A, Olsen M. MeCP2 deficiency leads to loss of glial Kir4.1. eNeuro 5: e0194-17.2018, 2018. [PMID: PMC29464197] 
  3. Percy AK, Lane J, Annese F, Warren H, Skinner SA, Neul JL.  When Rett syndrome is due to genes other than MECP2. Trans Sci Rare Dis 3:49-53, 2018. [PMID: PMC5900556]
  4. Tarquinio DC, Hou W, Neul JL, Berkmen GK, Drummond J, Aronoff E, Lane JB, Kaufmann WE, Motil KJ, Glaze DG, Skinner SA, Percy AK. The course of awake breathing disturbances across the lifespan in Rett syndrome. Brain & Dev 40:515-529, 2018 doi.org/10.106/j.braindev.2018.03.010. [PMID: PMC6026556]
  5. Buchanan CB, Stallworth JL, Scott AE, Glaze DG, Lane JB, Skinner SA, Tierney AE, Percy AK, Neul JL, Kaufmann WE.  Behavioral profiles in Rett syndrome: Data from the Natural History Study. Brain and Dev 41:123-134, 2019. DOI: 10.1016/ j.braindev.2018.08.008. [PMID: PMC6392009]
  6. Neul JL, Benke T, Marsh E, Skinner SA, Merritt J, Lieberman D, Standridge S, Feyma T, Heydemann P, Peters S, Ryther RC , Jones MD, Suter B, Kaufmann W, Glaze D, Percy AK. The array of clinical phenotypes of males with mutations in Methyl-CpG binding protein 2. Am J Med Genet 180:55-67, 2019. DOI:1002/ajmg.b.32707 [PMID: PMC6488031]
  7. Glaze DG, Neul JL, Kaufmann WE, Berry-Kravis E, Condon S, Stoms G, Oosterholt S, Pasqua OD, Glass L, Jones NE, Percy AK. Double-Blind, Randomized, Placebo-Controlled Study of Trofinetide in Pediatric Rett Syndrome. Neurology 92:e1912-e1925, 2019. doi:10.1212/WNL.0000000000007316 [PMID: PMC6550498]
  8. Motil KJ, Lane JB, Barrish JO, Annese F, Geerts S, McNair L, Skinner SA, Neul JL, Glaze DG, Percy AK. Biliary Tract Disease in Girls and Young Women with Rett Syndrome. J. Pediatr Gastroentol & Nutrition 68:799-805, 2019. Doi.10.1097/MPG.0000000000002273 [PMID: PMC6534452]
  9. Stallworth JL, Dy ME, Buchanan CB, Chen C-F, Scott AE, Glaze DG, Lane JB, Lieberman DN, Oberman LM,  Skinner SA, Tierney AE, Cutter GR, Percy AK, Neul JL, Kaufmann WE. Hand Stereotypies: Lessons from the Rett Syndrome Natural History Study. Neurol: 92: e2594-e2603, 2019 DOI: 10.1212/WNL.0000000000007560  [PMID: PMC6556084]
  10. Peters SU, Fu C, Suter B, Marsh E, Benke T, Skinner SA, Lieberman DN, Standridge S, Jones M, Beisang A, Feyma T, Heydemann P, Ryther R, Kaufmann WE, Glaze DG, Neul JL, Percy AK. Characterizing the Phenotypic Effect of Xq28 Duplication Size in MECP2 Duplication Syndrome. Clin Genet 95:595-581, 2019. DOI: 10.1111/cge.13521 [PMID: PMC6465105]
  11. Demarest S, Pestana-Knight EM, Olson H, Downs J, Marsh ED, Kaufmann WE, Partridge C_A, Leonard H, Gwadry-Sridhar F, Frame KE, Cross JH, Chin RFM, Parikh S, Panzer A, Weisenberg J, Utley K, Jaksha A, Amin S, Khwaja O, Devinsky O, Neul JL, Percy AK, Benke TA. Severity Assessment in CDKL5 Deficiency Disorder. Pediatr Neurol 97:38-42, 2019 [PMID: PMC6659999]
  12. Neul JL, Skinner SA, Annese F, lane J, Heydemann P, Jones M, Kaufmann WE, Glaze DG, Percy AK. Metabolic signatures differentiate Rett syndrome from unaffected siblings. Frontiers in Integrative Neuroscience, in press, 2020