Natural History Study Publications

 

2017 NHS Publications

 

1.

Autonomic breathing abnormalities in Rett syndrome: caregiver perspectives in an international database study.

 

Mackay J, Downs J, Wong K, Heyworth J, Epstein A, Leonard H.

 

J Neurodev Disord. 2017 Apr 28;9:15. doi: 10.1186/s11689-017-9196-7. eCollection 2017.

 

PMID: 28465761 [PubMed - in process] Free PMC Article

 

2.

MeCP2-regulated miRNAs control early human neurogenesis through differential effects on ERK and AKT signaling.

 

Mellios N, Feldman DA, Sheridan SD, Ip JPK, Kwok S, Amoah SK, Rosen B, Rodriguez BA, Crawford B, Swaminathan R, Chou S, Li Y, Ziats M, Ernst C, Jaenisch R, Haggarty SJ, Sur M.

 

Mol Psychiatry. 2017 Apr 25. doi: 10.1038/mp.2017.86. [Epub ahead of print]

 

PMID: 28439102 [PubMed - as supplied by publisher]

 

3.

Stimulation of the brain serotonin receptor 7 rescues mitochondrial dysfunction in female mice from two models of Rett syndrome.

 

Valenti D, de Bari L, Vigli D, Lacivita E, Leopoldo M, Laviola G, Vacca RA, De Filippis B.

 

Neuropharmacology. 2017 Apr 15;121:79-88. doi: 10.1016/j.neuropharm.2017.04.024. [Epub ahead of print]

 

PMID: 28419872 [PubMed - as supplied by publisher]

 

4.

Elevating expression of MeCP2 T158M rescues DNA binding and Rett syndrome-like phenotypes.

 

Lamonica JM, Kwon DY, Goffin D, Fenik P, Johnson BS, Cui Y, Guo H, Veasey S, Zhou Z.

 

J Clin Invest. 2017 May 1;127(5):1889-1904. doi: 10.1172/JCI90967. Epub 2017 Apr 10.

 

PMID: 28394263 [PubMed - in process] Free Article

 

5.

Sustained attention in the face of distractors: A study of children with Rett syndrome.

 

Rose SA, Wass S, Jankowski JJ, Feldman JF, Djukic A.

 

Neuropsychology. 2017 May;31(4):403-410. doi: 10.1037/neu0000369. Epub 2017 Apr 6.

 

PMID: 28383972 [PubMed - in process]

 

6.

Mitochondrial Dysfunction in the Pathogenesis of Rett Syndrome: Implications for Mitochondria-Targeted Therapies.

 

Shulyakova N, Andreazza AC, Mills LR, Eubanks JH.

 

Front Cell Neurosci. 2017 Mar 14;11:58. doi: 10.3389/fncel.2017.00058. eCollection 2017. Review.

 

PMID: 28352216 [PubMed - in process] Free PMC Article

 

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.

 

PMID: 28347601 [PubMed - in process]

 

8.

Zoledronic acid improves bone histomorphometry in a murine model of Rett syndrome.

 

Shapiro JR, Boskey AL, Doty SB, Lukashova L, Blue ME.

 

Bone. 2017 Jun;99:1-7. doi: 10.1016/j.bone.2017.03.040. Epub 2017 Mar 18.

 

PMID: 28323142 [PubMed - in process]

 

 

9.

CREB Signaling Is Involved in Rett Syndrome Pathogenesis.

 

Bu Q, Wang A, Hamzah H, Waldman A, Jiang K, Dong Q, Li R, Kim J, Turner D, Chang Q.

 

J Neurosci. 2017 Mar 29;37(13):3671-3685. doi: 10.1523/JNEUROSCI.3735-16.2017. Epub 2017 Mar 7.

 

PMID: 28270572 [PubMed - in process]

 

10.

Regulation of mRNA splicing by MeCP2 via epigenetic modifications in the brain.

 

Cheng TL, Chen J, Wan H, Tang B, Tian W, Liao L, Qiu Z.

 

Sci Rep. 2017 Feb 17;7:42790. doi: 10.1038/srep42790.

 

PMID: 28211484 [PubMed - in process] Free PMC Article

 

11.

A case-controlled comparison of postoperative analgesic dosing between girls with Rett syndrome and girls with and without developmental disability undergoing spinal fusion surgery.

 

Barney CC, Merbler AM, Quest K, Byiers BJ, Wilcox GL, Schwantes S, Roiko SA, Feyma T, Beisang A, Symons FJ.

 

Paediatr Anaesth. 2017 Mar;27(3):290-299. doi: 10.1111/pan.13066. Epub 2017 Feb 8.

 

PMID: 28177174 [PubMed - in process]

 

12.

Quantification of walking-based physical activity and sedentary time in individuals with Rett syndrome.

 

Downs J, Leonard H, Wong K, Newton N, Hill K.

 

Dev Med Child Neurol. 2017 Jun;59(6):605-611. doi: 10.1111/dmcn.13398. Epub 2017 Feb 6.

 

PMID: 28164278 [PubMed - in process]

 

13.

Influenza A induces dysfunctional immunity and death in MeCP2-overexpressing mice.

 

Cronk JC, Herz J, Kim TS, Louveau A, Moser EK, Sharma AK, Smirnov I, Tung KS, Braciale TJ, Kipnis J.

 

JCI Insight. 2017 Jan 26;2(2):e88257. doi: 10.1172/jci.insight.88257.

 

PMID: 28138553 [PubMed - in process] Free PMC Article

 

14.

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.

 

PMID: 28132121 [PubMed - in process]

 

15.

Choice making in Rett syndrome: a descriptive study using video data.

 

Urbanowicz A, Ciccone N, Girdler S, Leonard H, Downs J.

 

Disabil Rehabil. 2017 Jan 23:1-10. doi: 10.1080/09638288.2016.1277392. [Epub ahead of print]

 

PMID: 28112551 [PubMed - as supplied by publisher]

 

16.

Effects of early-life exposure to THIP on brainstem neuronal excitability in the Mecp2-null mouse model of Rett syndrome before and after drug withdrawal.

 

Zhong W, Johnson CM, Cui N, Oginsky MF, Wu Y, Jiang C.

 

Physiol Rep. 2017 Jan;5(2). pii: e13110. doi: 10.14814/phy2.13110.

 

PMID: 28108647 [PubMed - in process] Free PMC Article

 

17.

MECP2 regulates cortical plasticity underlying a learned behaviour in adult female mice.

 

Krishnan K, Lau BY, Ewall G, Huang ZJ, Shea SD.

 

Nat Commun. 2017 Jan 18;8:14077. doi: 10.1038/ncomms14077.

 

PMID: 28098153 [PubMed - in process] Free PMC Article

 

18.

Selective preservation of cholinergic MeCP2 rescues specific Rett-syndrome-like phenotypes in MeCP2<sup>stop</sup> mice.

 

Zhou H, Wu W, Zhang Y, He H, Yuan Z, Zhu Z, Zhao Z.

 

Behav Brain Res. 2017 Mar 30;322(Pt A):51-59. doi: 10.1016/j.bbr.2017.01.023. Epub 2017 Jan 16.

 

PMID: 28093257 [PubMed - in process]

 

19.

Effects of chronic exposure to low dose THIP on brainstem neuronal excitability in mouse models of Rett syndrome: Evidence from symptomatic females.

 

Zhong W, Johnson CM, Cui N, Xing H, Wu Y, Jiang C.

 

Neuropharmacology. 2017 Apr;116:288-299. doi: 10.1016/j.neuropharm.2017.01.002. Epub 2017 Jan 6.

 

PMID: 28069353 [PubMed - in process]

 

20.

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(Pt 2):306-318. doi: 10.1093/brain/aww302. Epub 2016 Dec 21.

 

PMID: 28007990 [PubMed - in process]

 

21.

IGF1 neuronal response in the absence of MECP2 is dependent on TRalpha 3.

 

de Souza JS, Carromeu C, Torres LB, Araujo BH, Cugola FR, Maciel RM, Muotri AR, Giannocco G.

 

Hum Mol Genet. 2017 Jan 15;26(2):270-281. doi: 10.1093/hmg/ddw384.

 

PMID: 28007906 [PubMed - in process]

 

22.

Clinical and biological progress over 50 years in Rett syndrome.

 

Leonard H, Cobb S, Downs J.

 

Nat Rev Neurol. 2017 Jan;13(1):37-51. doi: 10.1038/nrneurol.2016.186. Epub 2016 Dec 9. Review.

 

PMID: 27934853 [PubMed - in process]

 

23.

A qualitative investigation of recovery after femoral fracture in Rett syndrome.

 

Horne T, Leonard H, Stannage K, Downs J.

 

Child Care Health Dev. 2017 Mar;43(2):232-239. doi: 10.1111/cch.12392. Epub 2016 Aug 11.

 

PMID: 27511284 [PubMed - in process]

 

24.

Expanding the clinical picture of the MECP2 Duplication syndrome.

 

Lim Z, Downs J, Wong K, Ellaway C, Leonard H.

 

Clin Genet. 2017 Apr;91(4):557-563. doi: 10.1111/cge.12814. Epub 2016 Jul 21.

 

PMID: 27247049 [PubMed - in process]

 

25.

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.

 

PMID: 27171548 [PubMed - in process] Free PMC Article

 

26.

CX<sub>3</sub>CR1 ablation ameliorates motor and respiratory dysfunctions and improves survival of a Rett syndrome mouse model.

 

Horiuchi M, Smith L, Maezawa I, Jin LW.

 

Brain Behav Immun. 2017 Feb;60:106-116. doi: 10.1016/j.bbi.2016.02.014. Epub 2016 Feb 13.

 

PMID: 26883520 [PubMed - in process]

 

27.

Detecting autonomic response to pain in Rett syndrome.

 

O'Leary HM, Marschik PB, Khwaja OS, Ho E, Barnes KV, Clarkson TW, Bruck NM, Kaufmann WE.

 

Dev Neurorehabil. 2017 Feb;20(2):108-114. doi: 10.3109/17518423.2015.1087437. Epub 2015 Oct 12.

 

PMID: 26457613 [PubMed - indexed for MEDLINE]

 

28. 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.

     PMID: 28347601

29. 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.

     PMID: 28132121

 

Earlier NHS Publications

2016  2014    2012    2011    2010    2009    2008    2007

2016

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(Pt 2):306-318. doi: 10.1093/brain/aww302. Epub 2016 Dec 21.

PMID: 28007990

 

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.

PMID: 27171548

 

2014

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..

2012

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.

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.

2011

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.

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.

2010

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.

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.

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.

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.

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.

2009

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.

2008

Rett syndrome: recent research progress.
Percy AK.
J Child Neurol. 2008 May;23(5):543-9.

Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome.
Neul JL, Fang P, Barrish J, Lane J, Caeg EB, Smith EO, Zoghbi H, Percy A, Glaze DG.
Neurology. 2008 Apr 15;70(16):1313-21.

2007

Rett syndrome: North American database.
Percy AK, Lane JB, Childers J, Skinner S, Annese F, Barrish J, Caeg E, Glaze DG, MacLeod P.
J Child Neurol. 2007 Dec;22(12):1338-41.


We plan to add earlier publications and update these lists on a quarterly basis.  Please contact research@rettsyndrome.org if you notice omissions or have a new publication you’d like us to add.