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Items: 1 to 50 of 64

1.

When Rett syndrome is due to genes other than MECP2.

Percy AK, Lane J, Annese F, Warren H, Skinner SA, Neul JL.

Transl Sci Rare Dis. 2018 Apr 13;3(1):49-53. doi: 10.3233/TRD-180021.

2.

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 Apr 12. pii: S0387-7604(18)30106-2. doi: 10.1016/j.braindev.2018.03.010. [Epub ahead of print]

PMID:
29657083
3.

Loss of skills and onset patterns in neurodevelopmental disorders: Understanding the neurobiological mechanisms.

Thurm A, Powell EM, Neul JL, Wagner A, Zwaigenbaum L.

Autism Res. 2018 Feb;11(2):212-222. doi: 10.1002/aur.1903. Epub 2017 Dec 11.

PMID:
29226600
4.

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.

PMID:
28964591
5.

Embryonic hindbrain patterning genes delineate distinct cardio-respiratory and metabolic homeostatic populations in the adult.

Sun JJ, Huang TW, Neul JL, Ray RS.

Sci Rep. 2017 Aug 22;7(1):9117. doi: 10.1038/s41598-017-08810-4.

6.

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.

7.

Methyl-CpG binding-protein 2 function in cholinergic neurons mediates cardiac arrhythmogenesis.

Herrera JA, Ward CS, Wehrens XH, Neul JL.

Hum Mol Genet. 2016 Nov 15;25(22):4983-4995. doi: 10.1093/hmg/ddw326.

8.

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.

9.

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.

10.

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.

11.

Loss of MeCP2 in the rat models regression, impaired sociability and transcriptional deficits of Rett syndrome.

Veeraragavan S, Wan YW, Connolly DR, Hamilton SM, Ward CS, Soriano S, Pitcher MR, McGraw CM, Huang SG, Green JR, Yuva LA, Liang AJ, Neul JL, Yasui DH, LaSalle JM, Liu Z, Paylor R, Samaco RC.

Hum Mol Genet. 2016 Aug 1;25(15):3284-3302. doi: 10.1093/hmg/ddw178. Epub 2016 Jun 30.

12.

Manipulations of MeCP2 in glutamatergic neurons highlight their contributions to Rett and other neurological disorders.

Meng X, Wang W, Lu H, He LJ, Chen W, Chao ES, Fiorotto ML, Tang B, Herrera JA, Seymour ML, Neul JL, Pereira FA, Tang J, Xue M, Zoghbi HY.

Elife. 2016 Jun 21;5. pii: e14199. doi: 10.7554/eLife.14199.

13.

Progressive Changes in a Distributed Neural Circuit Underlie Breathing Abnormalities in Mice Lacking MeCP2.

Huang TW, Kochukov MY, Ward CS, Merritt J, Thomas K, Nguyen T, Arenkiel BR, Neul JL.

J Neurosci. 2016 May 18;36(20):5572-86. doi: 10.1523/JNEUROSCI.2330-15.2016.

14.

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.

15.

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.

16.

Origin of a Non-Clarke's Column Division of the Dorsal Spinocerebellar Tract and the Role of Caudal Proprioceptive Neurons in Motor Function.

Yuengert R, Hori K, Kibodeaux EE, McClellan JX, Morales JE, Huang TP, Neul JL, Lai HC.

Cell Rep. 2015 Nov 10;13(6):1258-1271. doi: 10.1016/j.celrep.2015.09.064. Epub 2015 Oct 29.

17.

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.

18.

Corrigendum: Wild-type microglia do not reverse pathology in mouse models of Rett syndrome.

Wang J, Wegener JE, Huang TW, Sripathy S, De Jesus-Cortes H, Xu P, Tran S, Knobbe W, Leko V, Britt J, Starwalt R, McDaniel L, Ward CS, Parra D, Newcomb B, Lao U, Nourigat C, Flowers DA, Cullen S, Jorstad NL, Yang Y, Glaskova L, Vigneau S, Kozlitina J, Yetman MJ, Jankowsky JL, Reichardt SD, Reichardt HM, Gärtner J, Bartolomei MS, Fang M, Loeb K, Keene CD, Bernstein I, Goodell M, Brat DJ, Huppke P, Neul JL, Bedalov A, Pieper AA.

Nature. 2015 Sep 24;525(7570):552. doi: 10.1038/nature14671. Epub 2015 Jul 15. No abstract available.

PMID:
26176914
19.

Therapeutic Advances in Autism and Other Neurodevelopmental Disorders.

Neul JL, Sahin M.

Neurotherapeutics. 2015 Jul;12(3):519-20. doi: 10.1007/s13311-015-0364-8. No abstract available.

20.

Wild-type microglia do not reverse pathology in mouse models of Rett syndrome.

Wang J, Wegener JE, Huang TW, Sripathy S, De Jesus-Cortes H, Xu P, Tran S, Knobbe W, Leko V, Britt J, Starwalt R, McDaniel L, Ward CS, Parra D, Newcomb B, Lao U, Nourigat C, Flowers DA, Cullen S, Jorstad NL, Yang Y, Glaskova L, Vingeau S, Kozlitina J, Yetman MJ, Jankowsky JL, Reichardt SD, Reichardt HM, Gärtner J, Bartolomei MS, Fang M, Loeb K, Keene CD, Bernstein I, Goodell M, Brat DJ, Huppke P, Neul JL, Bedalov A, Pieper AA.

Nature. 2015 May 21;521(7552):E1-4. doi: 10.1038/nature14444. No abstract available. Erratum in: Nature. 2015 Sep 24;525(7570):552. Vigneau, Sebastian [Corrected to Vingeau, Sébastien].

21.

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.

22.

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.

23.

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.

24.

Rett syndrome like phenotypes in the R255X Mecp2 mutant mouse are rescued by MECP2 transgene.

Pitcher MR, Herrera JA, Buffington SA, Kochukov MY, Merritt JK, Fisher AR, Schanen NC, Costa-Mattioli M, Neul JL.

Hum Mol Genet. 2015 May 1;24(9):2662-72. doi: 10.1093/hmg/ddv030. Epub 2015 Jan 29.

25.

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.

26.

Mutual antagonism between Sox10 and NFIA regulates diversification of glial lineages and glioma subtypes.

Glasgow SM, Zhu W, Stolt CC, Huang TW, Chen F, LoTurco JJ, Neul JL, Wegner M, Mohila C, Deneen B.

Nat Neurosci. 2014 Oct;17(10):1322-9. doi: 10.1038/nn.3790. Epub 2014 Aug 24.

27.

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.

28.

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.

29.

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.

30.

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.

31.

Breathing challenges in Rett syndrome: lessons learned from humans and animal models.

Ramirez JM, Ward CS, Neul JL.

Respir Physiol Neurobiol. 2013 Nov 1;189(2):280-7. doi: 10.1016/j.resp.2013.06.022. Epub 2013 Jun 28. Review.

32.

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].

33.

Insulinotropic treatments exacerbate metabolic syndrome in mice lacking MeCP2 function.

Pitcher MR, Ward CS, Arvide EM, Chapleau CA, Pozzo-Miller L, Hoeflich A, Sivaramakrishnan M, Saenger S, Metzger F, Neul JL.

Hum Mol Genet. 2013 Jul 1;22(13):2626-33. doi: 10.1093/hmg/ddt111. Epub 2013 Mar 5.

34.

The relationship of Rett syndrome and MECP2 disorders to autism.

Neul JL.

Dialogues Clin Neurosci. 2012 Sep;14(3):253-62. Review.

35.

Overexpression of methyl-CpG binding protein 2 impairs T(H)1 responses.

Yang T, Ramocki MB, Neul JL, Lu W, Roberts L, Knight J, Ward CS, Zoghbi HY, Kheradmand F, Corry DB.

Sci Transl Med. 2012 Dec 5;4(163):163ra158. doi: 10.1126/scitranslmed.3004430.

36.

Preclinical research in Rett syndrome: setting the foundation for translational success.

Katz DM, Berger-Sweeney JE, Eubanks JH, Justice MJ, Neul JL, Pozzo-Miller L, Blue ME, Christian D, Crawley JN, Giustetto M, Guy J, Howell CJ, Kron M, Nelson SB, Samaco RC, Schaevitz LR, St Hillaire-Clarke C, Young JL, Zoghbi HY, Mamounas LA.

Dis Model Mech. 2012 Nov;5(6):733-45. doi: 10.1242/dmm.011007. Review.

37.

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.

38.

Female Mecp2(+/-) mice display robust behavioral deficits on two different genetic backgrounds providing a framework for pre-clinical studies.

Samaco RC, McGraw CM, Ward CS, Sun Y, Neul JL, Zoghbi HY.

Hum Mol Genet. 2013 Jan 1;22(1):96-109. doi: 10.1093/hmg/dds406. Epub 2012 Oct 1.

39.

Atoh1 governs the migration of postmitotic neurons that shape respiratory effectiveness at birth and chemoresponsiveness in adulthood.

Huang WH, Tupal S, Huang TW, Ward CS, Neul JL, Klisch TJ, Gray PA, Zoghbi HY.

Neuron. 2012 Sep 6;75(5):799-809. doi: 10.1016/j.neuron.2012.06.027.

40.

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.

41.

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.

42.

Unfolding neurodevelopmental disorders: the mystery of developing connections.

Neul JL.

Nat Med. 2011 Nov 2;17(11):1353-5. doi: 10.1038/nm.2552. No abstract available.

43.

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.

44.

MeCP2 is critical within HoxB1-derived tissues of mice for normal lifespan.

Ward CS, Arvide EM, Huang TW, Yoo J, Noebels JL, Neul JL.

J Neurosci. 2011 Jul 13;31(28):10359-70. doi: 10.1523/JNEUROSCI.0057-11.2011.

45.

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.

46.

Complexities of Rett syndrome and MeCP2.

Samaco RC, Neul JL.

J Neurosci. 2011 Jun 1;31(22):7951-9. doi: 10.1523/JNEUROSCI.0169-11.2011. Review. No abstract available.

47.

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.

48.

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.

49.

Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes.

Chao HT, Chen H, Samaco RC, Xue M, Chahrour M, Yoo J, Neul JL, Gong S, Lu HC, Heintz N, Ekker M, Rubenstein JL, Noebels JL, Rosenmund C, Zoghbi HY.

Nature. 2010 Nov 11;468(7321):263-9. doi: 10.1038/nature09582.

50.

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.

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