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Items: 1 to 20 of 66

1.

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. 2018 Sep 11. pii: S0387-7604(18)30305-X. doi: 10.1016/j.braindev.2018.08.008. [Epub ahead of print]

PMID:
30217666
2.

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.

3.

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.

PMID:
29657083
4.

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
5.

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
6.

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.

7.

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.

8.

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.

9.

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.

10.

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.

11.

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.

12.

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.

13.

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.

14.

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.

15.

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.

16.

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.

17.

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.

18.

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.

19.

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
20.

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.

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