Literature DB >> 18056689

Rett syndrome: recent research progress.

Alan K Percy1.   

Abstract

Recent progress in our understanding of Rett syndrome has been dramatic. Against the background that the clinical features of Rett syndrome may be reversible, in part or in whole, substantial optimism has emerged regarding possible therapies. As such, it is timely to update recent research progress. This update summarizes research advances during the past 18 to 24 months in terms of clinical and translational research, as well as basic research.

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Year:  2007        PMID: 18056689     DOI: 10.1177/0883073807309786

Source DB:  PubMed          Journal:  J Child Neurol        ISSN: 0883-0738            Impact factor:   1.987


  8 in total

1.  Variant Profile of MECP2 Gene in Sri Lankan Patients with Rett Syndrome.

Authors:  D Hettiarachchi; N F Neththikumara; B A P S Pathirana; V H W Dissanayake
Journal:  J Autism Dev Disord       Date:  2020-01

Review 2.  Emerging pharmacotherapies for neurodevelopmental disorders.

Authors:  Daniel Z Wetmore; Craig C Garner
Journal:  J Dev Behav Pediatr       Date:  2010-09       Impact factor: 2.225

3.  Caregiver- and Clinician-Reported Adaptive Functioning in Rett Syndrome: a Systematic Review and Evaluation of Measurement Strategies.

Authors:  Eric S Semmel; Michelle E Fox; Sabrina D Na; Rella Kautiainen; Robert D Latzman; Tricia Z King
Journal:  Neuropsychol Rev       Date:  2019-11-20       Impact factor: 7.444

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

Authors:  Heather M O'Leary; Walter E Kaufmann; Katherine V Barnes; Kshitiz Rakesh; Kush Kapur; Daniel C Tarquinio; Nicole G Cantwell; Katherine J Roche; Suzanne A Rose; Alexandra C Walco; Natalie M Bruck; Grace A Bazin; Ingrid A Holm; Mark E Alexander; Lindsay C Swanson; Lauren M Baczewski; Chi‐Sang Poon; Juan M Mayor Torres; Charles A Nelson; Mustafa Sahin
Journal:  Ann Clin Transl Neurol       Date:  2018-01-31       Impact factor: 4.511

5.  Novel alterations in the epigenetic signature of MeCP2-targeted promoters in lymphocytes of Rett syndrome patients.

Authors:  Tobias Lilja; Karolina Wallenborg; Karin Björkman; Margareta Albåge; Maud Eriksson; Hugo Lagercrantz; Malin Rohdin; Ola Hermanson
Journal:  Epigenetics       Date:  2013-01-24       Impact factor: 4.528

Review 6.  The Utility of Next-Generation Sequencing in Gene Discovery for Mutation-Negative Patients with Rett Syndrome.

Authors:  Wendy Anne Gold; John Christodoulou
Journal:  Front Cell Neurosci       Date:  2015-07-14       Impact factor: 5.505

7.  Whole exome sequencing of Rett syndrome-like patients reveals the mutational diversity of the clinical phenotype.

Authors:  Mario Lucariello; Enrique Vidal; Silvia Vidal; Mauricio Saez; Laura Roa; Dori Huertas; Mercè Pineda; Esther Dalfó; Joaquin Dopazo; Paola Jurado; Judith Armstrong; Manel Esteller
Journal:  Hum Genet       Date:  2016-08-19       Impact factor: 4.132

8.  WDR45 mutations may cause a MECP2 mutation-negative Rett syndrome phenotype.

Authors:  Leonora Kulikovskaja; Adrijan Sarajlija; Dusanka Savic-Pavicevic; Valerija Dobricic; Christine Klein; Ana Westenberger
Journal:  Neurol Genet       Date:  2018-03-27
  8 in total

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