Literature DB >> 2705475

Rett syndrome: genetic clues based on mitochondrial changes in muscle.

O Eeg-Olofsson, A G al-Zuhair, A S Teebi, M M al-Essa.   

Abstract

Mesh：

Year:  1989        PMID： 2705475     DOI： 10.1002/ajmg.1320320131

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


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  12 in total

1.  Two sisters with Rett syndrome.

Authors:  C A Haenggeli; J Moura-Serra; C D DeLozier-Blanchet
Journal:  J Autism Dev Disord       Date:  1990-03

2.  Some remarks regarding the search for a genetic basis for Rett syndrome.

Authors:  E M Bühler
Journal:  Hum Genet       Date:  1991-06       Impact factor: 4.132

Review 3.  Rett syndrome.

Authors:  A Clarke
Journal:  J Med Genet       Date:  1996-08       Impact factor: 6.318

4.  Progressive increase in mtDNA 3243A>G heteroplasmy causes abrupt transcriptional reprogramming.

Authors:  Martin Picard; Jiangwen Zhang; Saege Hancock; Olga Derbeneva; Ryan Golhar; Pawel Golik; Sean O'Hearn; Shawn Levy; Prasanth Potluri; Maria Lvova; Antonio Davila; Chun Shi Lin; Juan Carlos Perin; Eric F Rappaport; Hakon Hakonarson; Ian A Trounce; Vincent Procaccio; Douglas C Wallace
Journal:  Proc Natl Acad Sci U S A       Date:  2014-09-05       Impact factor: 11.205

5.  X chromosome inactivation in 30 girls with Rett syndrome: analysis using the probe.

Authors:  P Camus; N Abbadi; M C Perrier; M Chéry; S Gilgenkrantz
Journal:  Hum Genet       Date:  1996-02       Impact factor: 4.132

6.  Gene expression analysis exposes mitochondrial abnormalities in a mouse model of Rett syndrome.

Authors:  Skirmantas Kriaucionis; Andrew Paterson; John Curtis; Jacky Guy; Nikki Macleod; Adrian Bird
Journal:  Mol Cell Biol       Date:  2006-07       Impact factor: 4.272

7.  Dysregulation of glutamine transporter SNAT1 in Rett syndrome microglia: a mechanism for mitochondrial dysfunction and neurotoxicity.

Authors:  Lee-Way Jin; Makoto Horiuchi; Heike Wulff; Xiao-Bo Liu; Gino A Cortopassi; Jeffrey D Erickson; Izumi Maezawa
Journal:  J Neurosci       Date:  2015-02-11       Impact factor: 6.167

Review 8.  Mitochondria, bioenergetics, and the epigenome in eukaryotic and human evolution.

Authors:  D C Wallace
Journal:  Cold Spring Harb Symp Quant Biol       Date:  2009-12-02

Review 9.  Energetics, epigenetics, mitochondrial genetics.

Authors:  Douglas C Wallace; Weiwei Fan
Journal:  Mitochondrion       Date:  2009-09-29       Impact factor: 4.160

10.  Genes related to mitochondrial functions, protein degradation, and chromatin folding are differentially expressed in lymphomonocytes of Rett syndrome patients.

Authors:  Alessandra Pecorelli; Guido Leoni; Franco Cervellati; Raffaella Canali; Cinzia Signorini; Silvia Leoncini; Alessio Cortelazzo; Claudio De Felice; Lucia Ciccoli; Joussef Hayek; Giuseppe Valacchi
Journal:  Mediators Inflamm       Date:  2013-12-12       Impact factor: 4.711
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