2017 Publications Acknowledging Rettsyndrome.org Research Grants and Funding

 

A small-molecule TrkB ligand restores hippocampal synaptic plasticity and object location memory in Rett syndrome mice.

Li W, Bellot-Saez A, Phillips ML, Yang T, Longo FM, Pozzo-Miller L.

Dis Model Mech. 2017 Jul 1;10(7):837-845

PMID: 28679669

 

Vagus nerve stimulation as a potential adjuvant to behavioral therapy for autism and other neurodevelopmental disorders

Crystal T. Engineer, Seth A. Hays, and Michael P. Kilgard

Journal of Neurodevelopmental Disorders20179:20 DOI: 10.1186/s11689-017-9203-z

 

EEA1 restores homeostatic synaptic plasticity in hippocampal neurons from Rettsyndrome mice.

Xu X, Pozzo-Miller L

J Physiol. 2017 Jun 16

PMID: 28621434

 

RettBASE:Rett Syndrome Database Update.

Krishnaraj R, Ho G, Christodoulou J.
Hum Mutat. 2017 May 25. 
PMID: 28544139 



Autonomic breathing abnormalities in Rett syndrome: caregiver perspectives in aninternational 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 



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

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 

 

Sustainedattention 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


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


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

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

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



InfluenzaA 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


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


Earlier Research Grants and Funding Publications

2014    2013


Therapeutic Reversal in Animal Models for Rett syndrome

2013    2012    2011    2010    2009    2008    2007


Natural History Study Research Publications:

Utilized clinical data collected by the Natural History Study of Rett syndrome.

2014    2012    2011    2010    2009    2008    2007

 

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.

 

To view all Rett syndrome - related publications, please visit the Pubmed database.