Natural History Study Publications

 

 

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 Jan 17
  PMID: 30664568
   
 

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. 2018 Dec 7.
  PMID: 30536762
   
 

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
   
 

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.

 

PMID: 29657083

 

 

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]

 

 

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]

 

 

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]

 

 

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]

 

 

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

 

 

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]

 

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

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.