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Best matches for rett syndrome:

Rett Syndrome: A Genetic Update and Clinical Review Focusing on Comorbidities. Gold WA et al. ACS Chem Neurosci. (2018)

[Molecular basis of Rett syndrome: A current look]. Pantaleón F G et al. Rev Chil Pediatr. (2015)

Longitudinal course of epilepsy in Rett syndrome and related disorders. Tarquinio DC et al. Brain. (2017)

Search results

Items: 1 to 20 of 3637

1.

Brief Report: Modest but Clinically Meaningful Effects of Early Behavioral Intervention in Twins with Rett Syndrome-A Case Study.

Titlestad KB, Eldevik S.

J Autism Dev Disord. 2019 Aug 20. doi: 10.1007/s10803-019-04185-9. [Epub ahead of print]

PMID:
31432309
2.

X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients.

Xiol C, Vidal S, Pascual-Alonso A, Blasco L, Brandi N, Pacheco P, Gerotina E, O'Callaghan M, Pineda M, Armstrong J; Rett Working Group.

Sci Rep. 2019 Aug 19;9(1):11983. doi: 10.1038/s41598-019-48385-w.

3.

The role of MeCP2 in learning and memory.

Robinson HA, Pozzo-Miller L.

Learn Mem. 2019 Aug 15;26(9):343-350. doi: 10.1101/lm.048876.118. Print 2019 Sep.

PMID:
31416907
4.

Positron Emission Tomography in Pediatric Neurodegenerative Disorders.

Chugani HT.

Pediatr Neurol. 2019 Jul 17. pii: S0887-8994(19)30424-2. doi: 10.1016/j.pediatrneurol.2019.07.003. [Epub ahead of print] Review.

PMID:
31416725
5.

Old but Gold: Tracking the New Guise of Histone Deacetylase 6 (HDAC6) Enzyme as a Biomarker and Therapeutic Target in Rare Diseases.

Brindisi M, Saraswati AP, Brogi S, Gemma S, Butini S, Campiani G.

J Med Chem. 2019 Aug 15. doi: 10.1021/acs.jmedchem.9b00924. [Epub ahead of print]

PMID:
31415174
6.

Genetic Landscape of Rett Syndrome Spectrum: Improvements and Challenges.

Vidal S, Xiol C, Pascual-Alonso A, O'Callaghan M, Pineda M, Armstrong J.

Int J Mol Sci. 2019 Aug 12;20(16). pii: E3925. doi: 10.3390/ijms20163925. Review.

7.

Developmental Regulation of KCC2 Phosphorylation Has Long-Term Impacts on Cognitive Function.

Moore YE, Conway LC, Wobst HJ, Brandon NJ, Deeb TZ, Moss SJ.

Front Mol Neurosci. 2019 Jul 23;12:173. doi: 10.3389/fnmol.2019.00173. eCollection 2019.

8.

Social-valence-related increased attention in rett syndrome cynomolgus monkeys: An eye-tracking study.

Zhang B, Zhou Z, Zhou Y, Zhang T, Ma Y, Niu Y, Ji W, Chen Y.

Autism Res. 2019 Aug 7. doi: 10.1002/aur.2189. [Epub ahead of print]

PMID:
31389199
9.

Glial Dysfunction in MeCP2 Deficiency Models: Implications for Rett Syndrome.

Kahanovitch U, Patterson KC, Hernandez R, Olsen ML.

Int J Mol Sci. 2019 Aug 5;20(15). pii: E3813. doi: 10.3390/ijms20153813. Review.

10.

Molecular Systems Biology of Neurodevelopmental Disorders, Rett Syndrome as an Archetype.

Faundez V, Wynne M, Crocker A, Tarquinio D.

Front Integr Neurosci. 2019 Jul 17;13:30. doi: 10.3389/fnint.2019.00030. eCollection 2019.

11.

Caveolin-1 Phosphorylation Is Essential for Axonal Growth of Human Neurons Derived From iPSCs.

Wang S, Zhang Z, Almenar-Queralt A, Leem J, DerMardirossian C, Roth DM, Patel PM, Patel HH, Head BP.

Front Cell Neurosci. 2019 Jul 17;13:324. doi: 10.3389/fncel.2019.00324. eCollection 2019.

12.

Genome-wide transcriptomic and proteomic studies of Rett syndrome mouse models identify common signalling pathways and cellular functions as potential therapeutic targets.

Krishnaraj R, Haase F, Coorey B, Luca EJ, Wong I, Boyling A, Ellaway C, Christodoulou J, Gold WA.

Hum Mutat. 2019 Aug 5. doi: 10.1002/humu.23887. [Epub ahead of print] Review.

PMID:
31379106
13.

Pharmacological enhancement of KCC2 gene expression exerts therapeutic effects on human Rett syndrome neurons and Mecp2 mutant mice.

Tang X, Drotar J, Li K, Clairmont CD, Brumm AS, Sullins AJ, Wu H, Liu XS, Wang J, Gray NS, Sur M, Jaenisch R.

Sci Transl Med. 2019 Jul 31;11(503). pii: eaau0164. doi: 10.1126/scitranslmed.aau0164.

PMID:
31366578
14.

Electroencephalographic spectral power as a marker of cortical function and disease severity in girls with Rett syndrome.

Roche KJ, LeBlanc JJ, Levin AR, O'Leary HM, Baczewski LM, Nelson CA.

J Neurodev Disord. 2019 Jul 31;11(1):15. doi: 10.1186/s11689-019-9275-z.

15.

Potent hERG channel inhibition by sarizotan, an investigative treatment for Rett Syndrome.

Cheng H, Du C, Zhang Y, James AF, Dempsey CE, Abdala AP, Hancox JC.

J Mol Cell Cardiol. 2019 Jul 27;135:22-30. doi: 10.1016/j.yjmcc.2019.07.012. [Epub ahead of print]

16.

Plasticity at the DNA recognition site of the MeCP2 mCG-binding domain.

Lei M, Tempel W, Chen S, Liu K, Min J.

Biochim Biophys Acta Gene Regul Mech. 2019 Jul 26;1862(9):194409. doi: 10.1016/j.bbagrm.2019.194409. [Epub ahead of print]

PMID:
31356990
17.

Pathogenic Variants in STXBP1 and in Genes for GABAa Receptor Subunities Cause Atypical Rett/Rett-like Phenotypes.

Cogliati F, Giorgini V, Masciadri M, Bonati MT, Marchi M, Cracco I, Gentilini D, Peron A, Savini MN, Spaccini L, Scelsa B, Maitz S, Veneselli E, Prato G, Pintaudi M, Moroni I, Vignoli A, Larizza L, Russo S.

Int J Mol Sci. 2019 Jul 24;20(15). pii: E3621. doi: 10.3390/ijms20153621.

18.

Medical Issues in Adults with Rett Syndrome - A National Survey.

Henriksen MW, Breck H, von Tetzchner S, Paus B, Skjeldal OH.

Dev Neurorehabil. 2019 Jul 25:1-7. doi: 10.1080/17518423.2019.1646341. [Epub ahead of print]

PMID:
31342829
19.

Efficient and Precise CRISPR/Cas9-Mediated MECP2 Modifications in Human-Induced Pluripotent Stem Cells.

Le TTH, Tran NT, Dao TML, Nguyen DD, Do HD, Ha TL, Kühn R, Nguyen TL, Rajewsky K, Chu VT.

Front Genet. 2019 Jul 2;10:625. doi: 10.3389/fgene.2019.00625. eCollection 2019.

20.

MeCP2 Deficiency Disrupts Kainate-Induced Presynaptic Plasticity in the Mossy Fiber Projections in the Hippocampus.

Bertoldi ML, Zalosnik MI, Fabio MC, Aja S, Roth GA, Ronnett GV, Degano AL.

Front Cell Neurosci. 2019 Jul 3;13:286. doi: 10.3389/fncel.2019.00286. eCollection 2019.

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