Literature DB >> 7620591

Rett syndrome.

A K Percy1.   

Abstract

Rett syndrome is a unique and puzzling disorder noted in females, and is possibly caused by fundamental failures in critical brain connectivity during early infancy. Recent reports expand our understanding of the Rett syndrome phenotype, continue the pattern of inconsistent or inconclusive metabolic and genetic results, and extend observations regarding abnormal brain cytoarchitecture.

Entities:  

Mesh：

Year:  1995        PMID： 7620591     DOI： 10.1097/00019052-199504000-00013

Source DB:  PubMed          Journal:  Curr Opin Neurol        ISSN： 1350-7540            Impact factor:   5.710


  3 in total

1.  Rapid genotyping of common MeCP2 mutations with an electronic DNA microchip using serial differential hybridization.

Authors:  William A Thistlethwaite; Linda M Moses; Kristen C Hoffbuhr; Joseph M Devaney; Eric P Hoffman
Journal:  J Mol Diagn       Date:  2003-05       Impact factor: 5.568

2.  Optimized Administration of the M4 PAM VU0467154 Demonstrates Broad Efficacy, but Limited Effective Concentrations in Mecp2+/- Mice.

Authors:  Jakub Cikowski; Calista Holt; Bright Arthur; Mackenzie Smith; Sonia Gonzalez; Craig W Lindsley; Colleen M Niswender; Rocco G Gogliotti
Journal:  ACS Chem Neurosci       Date:  2022-06-07       Impact factor: 5.780

3.  Clinical and Preclinical Evidence for M1 Muscarinic Acetylcholine Receptor Potentiation as a Therapeutic Approach for Rett Syndrome.

Authors:  Mackenzie Smith; Bright Arthur; Jakub Cikowski; Calista Holt; Sonia Gonzalez; Nicole M Fisher; Sheryl Anne D Vermudez; Craig W Lindsley; Colleen M Niswender; Rocco G Gogliotti
Journal:  Neurotherapeutics       Date:  2022-06-07       Impact factor: 6.088
  3 in total

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