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Metabolic Signatures Differentiate Rett Syndrome From Unaffected Siblings.

Neul JL, Skinner SA, Annese F, Lane J, Heydemann P, Jones M, Kaufmann WE, Glaze DG, Percy AK.

Front Integr Neurosci. 2020 Feb 25;14:7. doi: 10.3389/fnint.2020.00007. eCollection 2020.


Kinematics associated with treadmill walking in Rett syndrome.

Layne CS, Young DR, Lee BC, Glaze DG, Schwabe A, Suter B.

Disabil Rehabil. 2019 Oct 15:1-9. doi: 10.1080/09638288.2019.1674389. [Epub ahead of print]


Hand stereotypies: Lessons from the Rett Syndrome Natural History Study.

Stallworth JL, Dy ME, Buchanan CB, Chen CF, Scott AE, Glaze DG, Lane JB, Lieberman DN, Oberman LM, Skinner SA, Tierney AE, Cutter GR, Percy AK, Neul JL, Kaufmann WE.

Neurology. 2019 May 28;92(22):e2594-e2603. doi: 10.1212/WNL.0000000000007560. Epub 2019 May 3.


Electroencephalographic Patterns During Routine Polysomnography in Childhood and Association With Future Epilepsy Diagnosis.

Stowe RC, Glaze DG.

J Clin Sleep Med. 2019 Apr 15;15(4):553-562. doi: 10.5664/jcsm.7712.


Double-blind, randomized, placebo-controlled study of trofinetide in pediatric Rett syndrome.

Glaze DG, Neul JL, Kaufmann WE, Berry-Kravis E, Condon S, Stoms G, Oosterholt S, Della Pasqua O, Glass L, Jones NE, Percy AK; Rett 002 Study Group.

Neurology. 2019 Apr 16;92(16):e1912-e1925. doi: 10.1212/WNL.0000000000007316. Epub 2019 Mar 27.


Characterizing the phenotypic effect of Xq28 duplication size in MECP2 duplication syndrome.

Peters SU, Fu C, Suter B, Marsh E, Benke TA, Skinner SA, Lieberman DN, Standridge S, Jones M, Beisang A, Feyma T, Heydeman P, Ryther R, Kaufmann WE, Glaze DG, Neul JL, Percy AK.

Clin Genet. 2019 May;95(5):575-581. doi: 10.1111/cge.13521. Epub 2019 Mar 15.


Biliary Tract Disease in Girls and Young Women With Rett Syndrome.

Motil KJ, Lane JB, Barrish JO, Annese F, Geerts S, McNair L, Skinner SA, Neul JL, Glaze DG, Percy AK.

J Pediatr Gastroenterol Nutr. 2019 Jun;68(6):799-805. doi: 10.1097/MPG.0000000000002273.


The array of clinical phenotypes of males with mutations in Methyl-CpG binding protein 2.

Neul JL, Benke TA, Marsh ED, Skinner SA, Merritt J, Lieberman DN, Standridge S, Feyma T, Heydemann P, Peters S, Ryther R, Jones M, Suter B, Kaufmann WE, Glaze DG, Percy AK.

Am J Med Genet B Neuropsychiatr Genet. 2019 Jan;180(1):55-67. doi: 10.1002/ajmg.b.32707. Epub 2018 Dec 7.


Behavioral profiles in Rett syndrome: Data from the natural history study.

Buchanan CB, Stallworth JL, Scott AE, Glaze DG, Lane JB, Skinner SA, Tierney AE, Percy AK, Neul JL, Kaufmann WE.

Brain Dev. 2019 Feb;41(2):123-134. doi: 10.1016/j.braindev.2018.08.008. Epub 2018 Sep 11.


Temporal Gait Measures Associated With Overground and Treadmill Walking in Rett Syndrome.

Layne CS, Lee BC, Young DR, Glaze DG, Schwabe A, Suter B.

J Child Neurol. 2018 Jan 1:883073818780471. doi: 10.1177/0883073818780471. [Epub ahead of print]


Current clinical evidence does not support a link between TBL1XR1 and Rett syndrome: Description of one patient with Rett features and a novel mutation in TBL1XR1, and a review of TBL1XR1 phenotypes.

Zaghlula M, Glaze DG, Enns GM, Potocki L, Schwabe AL, Suter B.

Am J Med Genet A. 2018 Jul;176(7):1683-1687. doi: 10.1002/ajmg.a.38689. Epub 2018 May 19. Review. No abstract available.


The course of awake breathing disturbances across the lifespan in Rett syndrome.

Tarquinio DC, Hou W, Neul JL, Berkmen GK, Drummond J, Aronoff E, Harris J, Lane JB, Kaufmann WE, Motil KJ, Glaze DG, Skinner SA, Percy AK.

Brain Dev. 2018 Aug;40(7):515-529. doi: 10.1016/j.braindev.2018.03.010. Epub 2018 Apr 12.


A Double-Blind, Randomized, Placebo-Controlled Clinical Study of Trofinetide in the Treatment of Rett Syndrome.

Glaze DG, Neul JL, Percy A, Feyma T, Beisang A, Yaroshinsky A, Stoms G, Zuchero D, Horrigan J, Glass L, Jones NE.

Pediatr Neurol. 2017 Nov;76:37-46. doi: 10.1016/j.pediatrneurol.2017.07.002. Epub 2017 Jul 8.


Scoliosis in Rett Syndrome: Progression, Comorbidities, and Predictors.

Killian JT, Lane JB, Lee HS, Skinner SA, Kaufmann WE, Glaze DG, Neul JL, Percy AK.

Pediatr Neurol. 2017 May;70:20-25. doi: 10.1016/j.pediatrneurol.2017.01.032. Epub 2017 Feb 7.


Assessment of Caregiver Inventory for Rett Syndrome.

Lane JB, Salter AR, Jones NE, Cutter G, Horrigan J, Skinner SA, Kaufmann WE, Glaze DG, Neul JL, Percy AK.

J Autism Dev Disord. 2017 Apr;47(4):1102-1112. doi: 10.1007/s10803-017-3034-3.


Longitudinal course of epilepsy in Rett syndrome and related disorders.

Tarquinio DC, Hou W, Berg A, Kaufmann WE, Lane JB, Skinner SA, Motil KJ, Neul JL, Percy AK, Glaze DG.

Brain. 2017 Feb;140(2):306-318. doi: 10.1093/brain/aww302. Epub 2016 Dec 21.


Loss of MeCP2 Causes Urological Dysfunction and Contributes to Death by Kidney Failure in Mouse Models of Rett Syndrome.

Ward CS, Huang TW, Herrera JA, Samaco RC, Pitcher MR, Herron A, Skinner SA, Kaufmann WE, Glaze DG, Percy AK, Neul JL.

PLoS One. 2016 Nov 9;11(11):e0165550. doi: 10.1371/journal.pone.0165550. eCollection 2016.


Laparoscopic sleeve gastrectomy in children and adolescents with Prader-Willi syndrome: a matched control study.

Scheimann AO, Miller J, Glaze DG.

Surg Obes Relat Dis. 2017 Feb;13(2):366. doi: 10.1016/j.soard.2016.08.013. Epub 2016 Aug 17. No abstract available.


Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2.

Sajan SA, Jhangiani SN, Muzny DM, Gibbs RA, Lupski JR, Glaze DG, Kaufmann WE, Skinner SA, Annese F, Friez MJ, Lane J, Percy AK, Neul JL.

Genet Med. 2017 Jan;19(1):13-19. doi: 10.1038/gim.2016.42. Epub 2016 May 12.


Caretaker Quality of Life in Rett Syndrome: Disorder Features and Psychological Predictors.

Killian JT Jr, Lane JB, Lee HS, Pelham JH, Skinner SA, Kaufmann WE, Glaze DG, Neul JL, Percy AK.

Pediatr Neurol. 2016 May;58:67-74. doi: 10.1016/j.pediatrneurol.2015.12.021. Epub 2016 Jan 11.


The Changing Face of Survival in Rett Syndrome and MECP2-Related Disorders.

Tarquinio DC, Hou W, Neul JL, Kaufmann WE, Glaze DG, Motil KJ, Skinner SA, Lee HS, Percy AK.

Pediatr Neurol. 2015 Nov;53(5):402-11. doi: 10.1016/j.pediatrneurol.2015.06.003. Epub 2015 Jun 26.


Improving Treatment Trial Outcomes for Rett Syndrome: The Development of Rett-specific Anchors for the Clinical Global Impression Scale.

Neul JL, Glaze DG, Percy AK, Feyma T, Beisang A, Dinh T, Suter B, Anagnostou E, Snape M, Horrigan J, Jones NE.

J Child Neurol. 2015 Nov;30(13):1743-8. doi: 10.1177/0883073815579707. Epub 2015 Apr 20.


Age of diagnosis in Rett syndrome: patterns of recognition among diagnosticians and risk factors for late diagnosis.

Tarquinio DC, Hou W, Neul JL, Lane JB, Barnes KV, O'Leary HM, Bruck NM, Kaufmann WE, Motil KJ, Glaze DG, Skinner SA, Annese F, Baggett L, Barrish JO, Geerts SP, Percy AK.

Pediatr Neurol. 2015 Jun;52(6):585-91.e2. doi: 10.1016/j.pediatrneurol.2015.02.007. Epub 2015 Feb 16.


Treatment of cardiac arrhythmias in a mouse model of Rett syndrome with Na+-channel-blocking antiepileptic drugs.

Herrera JA, Ward CS, Pitcher MR, Percy AK, Skinner S, Kaufmann WE, Glaze DG, Wehrens XH, Neul JL.

Dis Model Mech. 2015 Apr;8(4):363-71. doi: 10.1242/dmm.020131. Epub 2015 Feb 20.


Pubertal development in Rett syndrome deviates from typical females.

Killian JT, Lane JB, Cutter GR, Skinner SA, Kaufmann WE, Tarquinio DC, Glaze DG, Motil KJ, Neul JL, Percy AK.

Pediatr Neurol. 2014 Dec;51(6):769-75. doi: 10.1016/j.pediatrneurol.2014.08.013. Epub 2014 Aug 29.


Low bone mineral mass is associated with decreased bone formation and diet in girls with Rett syndrome.

Motil KJ, Barrish JO, Neul JL, Glaze DG.

J Pediatr Gastroenterol Nutr. 2014 Sep;59(3):386-92. doi: 10.1097/MPG.0000000000000440.


Developmental delay in Rett syndrome: data from the natural history study.

Neul JL, Lane JB, Lee HS, Geerts S, Barrish JO, Annese F, Baggett LM, Barnes K, Skinner SA, Motil KJ, Glaze DG, Kaufmann WE, Percy AK.

J Neurodev Disord. 2014;6(1):20. doi: 10.1186/1866-1955-6-20. Epub 2014 Jul 22.


Polysomnographic sleep characteristics of generally-anxious and healthy children assessed in the home environment.

Patriquin MA, Mellman TA, Glaze DG, Alfano CA.

J Affect Disord. 2014 Jun;161:79-83. doi: 10.1016/j.jad.2014.02.037. Epub 2014 Mar 12.


Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome.

Cuddapah VA, Pillai RB, Shekar KV, Lane JB, Motil KJ, Skinner SA, Tarquinio DC, Glaze DG, McGwin G, Kaufmann WE, Percy AK, Neul JL, Olsen ML.

J Med Genet. 2014 Mar;51(3):152-8. doi: 10.1136/jmedgenet-2013-102113. Epub 2014 Jan 7.


Brief report: MECP2 mutations in people without Rett syndrome.

Suter B, Treadwell-Deering D, Zoghbi HY, Glaze DG, Neul JL.

J Autism Dev Disord. 2014 Mar;44(3):703-11. doi: 10.1007/s10803-013-1902-z.


Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in Rett syndrome.

Chapleau CA, Lane J, Kirwin SM, Schanen C, Vinette KM, Stubbolo D, MacLeod P, Glaze DG, Motil KJ, Neul JL, Skinner SA, Kaufmann WE, Percy AK.

Am J Med Genet A. 2013 Jul;161A(7):1638-46. doi: 10.1002/ajmg.a.35979. Epub 2013 May 21. Erratum in: Am J Med Genet A. 2014 May;164A(5):1346. Glaze, Daniel G [added]; Motil, Kathleen J [added]; Neul, Jeffrey L [added]; Skinner, Steven A [added]; Kaufmann, Walter E [added].


A practice pathway for the identification, evaluation, and management of insomnia in children and adolescents with autism spectrum disorders.

Malow BA, Byars K, Johnson K, Weiss S, Bernal P, Goldman SE, Panzer R, Coury DL, Glaze DG; Sleep Committee of the Autism Treatment Network.

Pediatrics. 2012 Nov;130 Suppl 2:S106-24. doi: 10.1542/peds.2012-0900I. Review.


Growth failure and outcome in Rett syndrome: specific growth references.

Tarquinio DC, Motil KJ, Hou W, Lee HS, Glaze DG, Skinner SA, Neul JL, Annese F, McNair L, Barrish JO, Geerts SP, Lane JB, Percy AK.

Neurology. 2012 Oct 16;79(16):1653-61. doi: 10.1212/WNL.0b013e31826e9a70. Epub 2012 Oct 3.


Associations of cytokines, sleep patterns, and neurocognitive function in youth with HIV infection.

Foster SB, Lu M, Glaze DG, Reuben JM, Harris LL, Cohen EN, Lee BN, Zhao E, Paul ME, Schwarzwald H, McMullen-Jackson C, Clark C, Armstrong FD, Brouwers PY, Miller TL, Colin AA, Scott GB, Shahzeidi S, Willen EJ, Asthana D, Lipshultz SE, Thompson BW, Shearer WT.

Clin Immunol. 2012 Jul;144(1):13-23. doi: 10.1016/j.clim.2012.04.004. Epub 2012 May 2.


Gastrointestinal and nutritional problems occur frequently throughout life in girls and women with Rett syndrome.

Motil KJ, Caeg E, Barrish JO, Geerts S, Lane JB, Percy AK, Annese F, McNair L, Skinner SA, Lee HS, Neul JL, Glaze DG.

J Pediatr Gastroenterol Nutr. 2012 Sep;55(3):292-8. doi: 10.1097/MPG.0b013e31824b6159.


Pathogenesis of lethal cardiac arrhythmias in Mecp2 mutant mice: implication for therapy in Rett syndrome.

McCauley MD, Wang T, Mike E, Herrera J, Beavers DL, Huang TW, Ward CS, Skinner S, Percy AK, Glaze DG, Wehrens XH, Neul JL.

Sci Transl Med. 2011 Dec 14;3(113):113ra125. doi: 10.1126/scitranslmed.3002982.


Clinical severity and quality of life in children and adolescents with Rett syndrome.

Lane JB, Lee HS, Smith LW, Cheng P, Percy AK, Glaze DG, Neul JL, Motil KJ, Barrish JO, Skinner SA, Annese F, McNair L, Graham J, Khwaja O, Barnes K, Krischer JP.

Neurology. 2011 Nov 15;77(20):1812-8. doi: 10.1212/WNL.0b013e3182377dd2. Epub 2011 Oct 19.


A therapeutic trial of pro-methylation dietary supplements in Angelman syndrome.

Bird LM, Tan WH, Bacino CA, Peters SU, Skinner SA, Anselm I, Barbieri-Welge R, Bauer-Carlin A, Gentile JK, Glaze DG, Horowitz LT, Mohan KN, Nespeca MP, Sahoo T, Sarco D, Waisbren SE, Beaudet AL.

Am J Med Genet A. 2011 Dec;155A(12):2956-63. doi: 10.1002/ajmg.a.34297. Epub 2011 Oct 14.


Abnormal circadian rhythm of melatonin in Smith-Magenis syndrome patients with RAI1 point mutations.

Boone PM, Reiter RJ, Glaze DG, Tan DX, Lupski JR, Potocki L.

Am J Med Genet A. 2011 Aug;155A(8):2024-7. doi: 10.1002/ajmg.a.34098. Epub 2011 Jul 7. No abstract available.


Vitamin D deficiency is prevalent in girls and women with Rett syndrome.

Motil KJ, Barrish JO, Lane J, Geerts SP, Annese F, McNair L, Percy AK, Skinner SA, Neul JL, Glaze DG.

J Pediatr Gastroenterol Nutr. 2011 Nov;53(5):569-74. doi: 10.1097/MPG.0b013e3182267a66.


Angelman syndrome: Mutations influence features in early childhood.

Tan WH, Bacino CA, Skinner SA, Anselm I, Barbieri-Welge R, Bauer-Carlin A, Beaudet AL, Bichell TJ, Gentile JK, Glaze DG, Horowitz LT, Kothare SV, Lee HS, Nespeca MP, Peters SU, Sahoo T, Sarco D, Waisbren SE, Bird LM.

Am J Med Genet A. 2011 Jan;155A(1):81-90. doi: 10.1002/ajmg.a.33775.


Rett syndrome: revised diagnostic criteria and nomenclature.

Neul JL, Kaufmann WE, Glaze DG, Christodoulou J, Clarke AJ, Bahi-Buisson N, Leonard H, Bailey ME, Schanen NC, Zappella M, Renieri A, Huppke P, Percy AK; RettSearch Consortium.

Ann Neurol. 2010 Dec;68(6):944-50. doi: 10.1002/ana.22124.


Rett syndrome diagnostic criteria: lessons from the Natural History Study.

Percy AK, Neul JL, Glaze DG, Motil KJ, Skinner SA, Khwaja O, Lee HS, Lane JB, Barrish JO, Annese F, McNair L, Graham J, Barnes K.

Ann Neurol. 2010 Dec;68(6):951-5. doi: 10.1002/ana.22154.


Double-blind therapeutic trial in Angelman syndrome using betaine and folic acid.

Peters SU, Bird LM, Kimonis V, Glaze DG, Shinawi LM, Bichell TJ, Barbieri-Welge R, Nespeca M, Anselm I, Waisbren S, Sanborn E, Sun Q, O'Brien WE, Beaudet AL, Bacino CA.

Am J Med Genet A. 2010 Aug;152A(8):1994-2001. doi: 10.1002/ajmg.a.33509.


Epilepsy and the natural history of Rett syndrome.

Glaze DG, Percy AK, Skinner S, Motil KJ, Neul JL, Barrish JO, Lane JB, Geerts SP, Annese F, Graham J, McNair L, Lee HS.

Neurology. 2010 Mar 16;74(11):909-12. doi: 10.1212/WNL.0b013e3181d6b852.


Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome.

Ramocki MB, Peters SU, Tavyev YJ, Zhang F, Carvalho CM, Schaaf CP, Richman R, Fang P, Glaze DG, Lupski JR, Zoghbi HY.

Ann Neurol. 2009 Dec;66(6):771-82. doi: 10.1002/ana.21715.


Profiling scoliosis in Rett syndrome.

Percy AK, Lee HS, Neul JL, Lane JB, Skinner SA, Geerts SP, Annese F, Graham J, McNair L, Motil KJ, Barrish JO, Glaze DG.

Pediatr Res. 2010 Apr;67(4):435-9. doi: 10.1203/PDR.0b013e3181d0187f.


Loss of MeCP2 in aminergic neurons causes cell-autonomous defects in neurotransmitter synthesis and specific behavioral abnormalities.

Samaco RC, Mandel-Brehm C, Chao HT, Ward CS, Fyffe-Maricich SL, Ren J, Hyland K, Thaller C, Maricich SM, Humphreys P, Greer JJ, Percy A, Glaze DG, Zoghbi HY, Neul JL.

Proc Natl Acad Sci U S A. 2009 Dec 22;106(51):21966-71. doi: 10.1073/pnas.0912257106. Epub 2009 Dec 9.


Longevity in Rett syndrome: analysis of the North American Database.

Kirby RS, Lane JB, Childers J, Skinner SA, Annese F, Barrish JO, Glaze DG, Macleod P, Percy AK.

J Pediatr. 2010 Jan;156(1):135-138.e1. doi: 10.1016/j.jpeds.2009.07.015.


Gastrostomy placement improves height and weight gain in girls with Rett syndrome.

Motil KJ, Morrissey M, Caeg E, Barrish JO, Glaze DG.

J Pediatr Gastroenterol Nutr. 2009 Aug;49(2):237-42. doi: 10.1097/MPG.0b013e31818f61fd.


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