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Items: 1 to 20 of 21

1.

Use of the ketogenic diet to manage refractory epilepsy in CDKL5 disorder: Experience of >100 patients.

Lim Z, Wong K, Olson HE, Bergin AM, Downs J, Leonard H.

Epilepsia. 2017 Aug;58(8):1415-1422. doi: 10.1111/epi.13813. Epub 2017 Jun 12.

PMID:
28605011
2.

Modeling Rett Syndrome Using TALEN-Edited MECP2 Mutant Cynomolgus Monkeys.

Chen Y, Yu J, Niu Y, Qin D, Liu H, Li G, Hu Y, Wang J, Lu Y, Kang Y, Jiang Y, Wu K, Li S, Wei J, He J, Wang J, Liu X, Luo Y, Si C, Bai R, Zhang K, Liu J, Huang S, Chen Z, Wang S, Chen X, Bao X, Zhang Q, Li F, Geng R, Liang A, Shen D, Jiang T, Hu X, Ma Y, Ji W, Sun YE.

Cell. 2017 May 18;169(5):945-955.e10. doi: 10.1016/j.cell.2017.04.035.

3.

Transcriptome analysis of microglia in a mouse model of Rett syndrome: differential expression of genes associated with microglia/macrophage activation and cellular stress.

Zhao D, Mokhtari R, Pedrosa E, Birnbaum R, Zheng D, Lachman HM.

Mol Autism. 2017 Mar 29;8:17. doi: 10.1186/s13229-017-0134-z. eCollection 2017.

4.

A sibship with duplication of Xq28 inherited from the mother; genomic characterization and clinical outcomes.

Yon DK, Park JE, Kim SJ, Shim SH, Chae KY.

BMC Med Genet. 2017 Mar 17;18(1):30. doi: 10.1186/s12881-017-0394-7.

5.

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
6.

Rett Syndrome: A Focus on Gut Microbiota.

Borghi E, Borgo F, Severgnini M, Savini MN, Casiraghi MC, Vignoli A.

Int J Mol Sci. 2017 Feb 7;18(2). pii: E344. doi: 10.3390/ijms18020344.

7.

Functional assessment of MeCP2 in Rett syndrome and cancers of breast, colon, and prostate.

Pandey S, Pruitt K.

Biochem Cell Biol. 2017 Jun;95(3):368-378. doi: 10.1139/bcb-2016-0154. Epub 2016 Nov 10. Review.

PMID:
28177766
8.

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
9.

Analysis of the Structure of the Torso in the Frontal Plane in Girls with Rett Syndrome Taking into Account Their Functional Status.

Małachowska-Sobieska M, Barczyk-Pawelec K, Marcmiszyn Z, Demczuk-Włodarczyk E, Skolimowska B, Maćków A, Miler A.

Ortop Traumatol Rehabil. 2016 Mar 23;18(2):155-163. doi: 10.5604/15093492.1205023.

PMID:
28155824
10.

Differential X Chromosome Inactivation Patterns during the Propagation of Human Induced Pluripotent Stem Cells.

Andoh-Noda T, Akamatsu W, Miyake K, Kobayashi T, Ohyama M, Kurosawa H, Kubota T, Okano H.

Keio J Med. 2017 Mar 25;66(1):1-8. doi: 10.2302/kjm.2016-0015-OA. Epub 2017 Jan 20.

11.

Oxygen exchange and energy metabolism in erythrocytes of Rett syndrome and their relationships with respiratory alterations.

Ciaccio C, Di Pierro D, Sbardella D, Tundo GR, Curatolo P, Galasso C, Santarone ME, Casasco M, Cozza P, Cortelazzo A, Rossi M, De Felice C, Hayek J, Coletta M, Marini S.

Mol Cell Biochem. 2017 Feb;426(1-2):205-213. doi: 10.1007/s11010-016-2893-9. Epub 2017 Jan 7.

PMID:
28063007
12.

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
13.

Inflammatory protein response in CDKL5-Rett syndrome: evidence of a subclinical smouldering inflammation.

Cortelazzo A, de Felice C, Leoncini S, Signorini C, Guerranti R, Leoncini R, Armini A, Bini L, Ciccoli L, Hayek J.

Inflamm Res. 2017 Mar;66(3):269-280. doi: 10.1007/s00011-016-1014-2. Epub 2016 Nov 29.

PMID:
27900411
14.

Generation and analysis of the Rett syndrome-associated MeCP2- null rat model.

[No authors listed]

Yi Chuan. 2016 Nov 20;38(11):1004-1011. Review.

PMID:
27867150
15.

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.

16.
17.

Seizure variables and their relationship to genotype and functional abilities in the CDKL5 disorder.

Fehr S, Wong K, Chin R, Williams S, de Klerk N, Forbes D, Krishnaraj R, Christodoulou J, Downs J, Leonard H.

Neurology. 2016 Nov 22;87(21):2206-2213. Epub 2016 Oct 21.

PMID:
27770071
18.

Binding Analysis of Methyl-CpG Binding Domain of MeCP2 and Rett Syndrome Mutations.

Yang Y, Kucukkal TG, Li J, Alexov E, Cao W.

ACS Chem Biol. 2016 Oct 21;11(10):2706-2715. Epub 2016 Aug 8.

PMID:
27356039
19.

An epigenomics approach to individual differences and its translation to neuropsychiatric conditions.

Sweatt JD, Tamminga CA.

Dialogues Clin Neurosci. 2016 Sep;18(3):289-298. Review.

20.

Rett Syndrome and the Ongoing Legacy of Close Clinical Observation.

Zoghbi HY.

Cell. 2016 Oct 6;167(2):293-297. doi: 10.1016/j.cell.2016.09.039.

PMID:
27716498

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