2019 Publications Acknowledging Rettsyndrome.org Research Grants and Funding


Exosomes regulate neurogenesis and circuit assembly

Pranav Sharma, Pinar Mesci, Cassiano Carromeu, Daniel R. McClatchy, Lucio Schiapparelli, John R. Yates III, Alysson R. Muotri, and Hollis T. Cline

Proc Natl Acad Sci USA. 2019 Jul 18. pii: 201902513. doi: 10.1073/pnas.1902513116.

PMID: 31320591


Ventral hippocampal projections to the medial prefrontal cortex regulate social memory.

Phillips ML, Robinson HA, Pozzo-Miller L.

Elife. 2019 May 21;8. pii: e44182. doi: 10.7554/eLife.44182.



Transcriptomic Analysis of Mecp2 Mutant Mice Reveals Differentially Expressed Genes and Altered Mechanisms in Both Blood and Brain.

Sanfeliu A, Hokamp K, Gill M, Tropea D.

Front Psychiatry. 2019 Apr 29;10:278. doi: 10.3389/fpsyt.2019.00278. eCollection 2019.



Double-blind, randomized, placebo-controlled study of trofinetide in pediatric Rett syndrome.

Glaze DG, Neul JL, Kaufmann WE, Berry-Kravis E, Condon S, Stoms G, Oosterholt S, Della Pasqua O, Glass L, Jones NE, Percy AK; Rett 002 Study Group.

Neurology. 2019 Apr 16;92(16):e1912-e1925. doi: 10.1212/WNL.0000000000007316. Epub 2019 Mar 27.



A clinical case-control comparison of epidermal innervation density in Rett syndrome.

Symons FJ, Barney CC, Byiers BJ, McAdams BD, Foster SXYL, Feyma TJ, Wendelschafer-Crabb G, Kennedy WR.

Brain Behav. 2019 May;9(5):e01285. doi: 10.1002/brb3.1285. Epub 2019 Apr 13.



Pathophysiology of Rett Syndrome

Larry Glass, Janice Ascano, Nancy E. Jones, James M. Youakim, Steven Kaminsky

Rare Neurological Disease Special Report 2019 March


Attentional shifting and disengagement in Rett syndrome.

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

Neuropsychology. 2019 Jan 28.

PMID: 30688490


Disturbed redox homeostasis and oxidative stress: Potential players in the developmental regression in Rett syndrome.

Müller M.

Neurosci Biobehav Rev. 2019 Jan 9.

PMID: 30639673


Spoken word processing in Rett syndrome: Evidence from event-related potentials.

Key AP, Jones D, Peters S.

Int J Dev Neurosci. 2019 Jan 7

PMID: 30630072


Towards a better diagnosis and treatment of Rett syndrome: a model synaptic disorder.

Banerjee A, Miller MT, Li K, Sur M, Kaufmann WE.

Brain. 2019 Jan 12.

PMID: 30649225


2018 Publications Acknowledging Rettsyndrome.org Research Grants and Funding


MECP2 Mutation Interrupts Nucleolin-mTOR-P70S6K Signaling in Rett Syndrome Patients. 

Olson CO, Pejhan S, Kroft D, Sheikholeslami K, Fuss D, Buist M, Ali Sher A, Del Bigio MR, Sztainberg Y, Siu VM, Ang LC, Sabourin-Felix M, Moss T, Rastegar M.

Front Genet. 2018 Dec.

PMID: 30619462


Impaired Visual Search in Children with Rett Syndrome

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

Pediatr Neurol. 2018 Oct 18.

PMID: 30573328


Metabotropic Glutamate Receptor 7: A New Therapeutic Target in Neurodevelopmental Disorders

Fisher NM, Seto M, Lindsley CW, Niswender CM.

Front Mol Neurosci. 2018 Oct 23;11:387. doi: 10.3389/fnmol.2018.00387. eCollection 2018. Review.

PMID: 30405350


Loss of MeCP2 in immature neurons leads to impaired network integration. 

Sun Y, Gao Y, Tidei JJ, Shen M, Hoang JT, Wagner D, Zhao X. 

Hum Mol Genet. 2018 Oct 1. doi: 10.1093/hmg/ddy338. 

PMID: 30277526


Loss of Mecp2 Causes Atypical Synaptic and Molecular Plasticity of Parvalbumin-Expressing Interneurons Reflecting Rett Syndrome-Like Sensorimotor Defects.

Morello N, Schina R, Pilotto F, Phillips M, Melani R, Plicato O, Pizzorusso T, Pozzo-Miller L, Giustetto M.

eNeuro. 2018 Sep 24;5(5). pii: ENEURO.0086-18.2018. doi: 10.1523/ENEURO.0086-18.2018. eCollection 2018 Sep-Oct

PMID:  30255129


Sleep disturbances in Rett syndrome: Impact and management including use of sleep hygiene practices.

Boban S, Leonard H, Wong K, Wilson A, Downs J.

Am J Med Genet A. 2018 Apr 28

PMID: 29704311


Placebo-controlled crossover assessment of mecasermin for the treatment of Rett syndrome. 

O'Leary HM, Kaufmann WE, Barnes KV, Rakesh K, Kapur K, Tarquinio DC, Cantwell NG, Roche KJ, Rose SA, Walco AC, Bruck NM, Bazin GA, Holm IA, Alexander ME, Swanson LC, Baczewski LM, Mayor Torres JM, Nelson CA 3rd, Sahin M.

Ann Clin Transl Neurol. 2018 Jan 31;5(3):323-332. eCollection 2018 Mar.

PMID: 29560377


Total RNA-sequencing of Rett Syndrome Autopsy Samples Identifies the M4 Muscarinic Receptor as a Novel Therapeutic Target.

Gogliotti R, Fisher N, Stansley B, Jones C, Lindsley C, Conn J, Niswender C.

J Pharmacol Exp Ther. 2018 Mar 9.

PMID: 29523700


The feasibility of using actigraphy to characterize sleep in Rett syndrome.

Merbler AM, Byiers BJ, Garcia JJ, Feyma TJ, Symons FJ.

J Neurodev Disord. 2018 Feb 27;10(1):8.

PMID:  29482495


Environmental enrichment intervention for Rett syndrome: an individually randomised stepped wedge trial.

Downs J, Rodger J, Li C, Tan X, Hu N, Wong K, de Klerk N, Leonard H.

Orphanet J Rare Dis. 2018 Jan 10;13(1):3. doi: 10.1186/s13023-017-0752-8.

PMID: 29321033


2017 Publications Acknowledging Rettsyndrome.org Research Grants and Funding

Adapting the Mullen Scales of Early Learning for a Standardized Measure of Development in Children With Rett Syndrome.

Clarkson T, LeBlanc J, DeGregorio G, Vogel-Farley V, Barnes K, Kaufmann WE, Nelson CA.

Intellect Dev Disabil. 2017 Dec;55(6):419-431. doi: 10.1352/1934-9556-55.6.419.



Genetic Reduction or Negative Modulation of mGlu7 Does Not Impact Anxiety and Fear Learning Phenotypes in a Mouse Model of MECP2 Duplication Syndrome.

Fisher NM, Gogliotti RG, Vermudez SAD, Stansley BJ, Conn PJ, Niswender CM

ACS Chem Neurosci. 2017 Dec 14. doi: 10.1021/acschemneuro.7b00414. [Epub ahead of print]

PMID: 29227625


Biotin tagging of MeCP2 in mice reveals contextual insights into the Rett syndrome transcriptome.

Johnson BS, Zhao YT, Fasolino M, Lamonica JM, Kim YJ, Georgakilas G, Wood KH, Bu D, Cui Y, Goffin D, Vahedi G, Kim TH, Zhou Z. 

Nat Med. 2017 Sep 18.

PMID: 28920956


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 Jul 8. pii: S0887-8994(17)30405-8. doi: 10.1016/j.pediatrneurol.2017.07.002. [Epub ahead of print]

PMID: 28964591


Distinguishing response to names in Rett and MECP2 Duplication syndrome: An ERP study of auditory social information processing. 

Sarika UP, Ashley K, Dorita J, Alexandra PK

Brain Res. 2017 Sep 1 

PMID: 28870827 


Defining Hand Stereotypies in Rett Syndrome: A Movement Disorders Perspective. 

Dy ME, Waugh JL, Sharma N, O'Leary H, Kapur K, D'Gama AM, Sahin M, Urion DK, Kaufmann WE

Pediatr Neurol. 2017 Jun 2. pii: S0887-8994(17)30406-X. doi: 10.1016/j.pediatrneurol.2017.05.025. [Epub ahead of print] 

PMID: 28838622 


mGlu<sub>7</sub> potentiation rescues cognitive, social, and respiratory phenotypes in a mouse model of Rett syndrome.

Gogliotti RG, Senter RK, Fisher NM, Adams J, Zamorano R, Walker AG, Blobaum AL, Engers DW, Hopkins CR, Daniels JS, Jones CK, Lindsley CW, Xiang Z, Conn PJ, Niswender CM.

Sci Transl Med. 2017 Aug 16;9(403). pii: eaai7459. doi: 10.1126/scitranslmed.aai7459.

PMID: 28814546


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


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



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..


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.


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.


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.


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.


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.


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.