Literature DB >> 14719536

Mitochondrial encephalomyopathies:gene mutation.

Serenella Servidei.   

Abstract

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Year:  2003        PMID： 14719536     DOI： 10.1016/s0960-8966(03)00209-8

Source DB:  PubMed          Journal:  Neuromuscul Disord        ISSN： 0960-8966            Impact factor:   4.296


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  10 in total

1.  The role of mitochondrial tRNA mutations in lung cancer.

Authors:  Lie Wang; Zhi-Jun Chen; Yong-Kui Zhang; Han-Bo Le
Journal:  Int J Clin Exp Med       Date:  2015-08-15

2.  Comparative analysis of the pathogenic mechanisms associated with the G8363A and A8296G mutations in the mitochondrial tRNA(Lys) gene.

Authors:  Belén Bornstein; José Antonio Mas; Clarice Patrono; Miguel Angel Fernández-Moreno; Emiliano González-Vioque; Yolanda Campos; Rosalba Carrozzo; Miguel Angel Martín; Pilar del Hoyo; Filippo M Santorelli; Joaquín Arenas; Rafael Garesse
Journal:  Biochem J       Date:  2005-05-01       Impact factor: 3.857

3.  Mitochondrial myopathy associated with a novel 5522G>A mutation in the mitochondrial tRNA(Trp) gene.

Authors:  Ivo Barić; Ksenija Fumić; Danijela Petković Ramadža; Wolfgang Sperl; Franz A Zimmermann; Diana Muačević-Katanec; Zoran Mitrović; Leo Pažanin; Ljerka Cvitanović Šojat; Tihomir Kekez; Zeljko Reiner; Johannes A Mayr
Journal:  Eur J Hum Genet       Date:  2012-12-12       Impact factor: 4.246

4.  Extremely high mutation load of the mitochondrial 8993 T>G mutation in a newborn: implications for prognosis and family planning decisions.

Authors:  Claudine De Praeter; Arnaud Vanlander; Piet Vanhaesebrouck; Joél Smet; Sara Seneca; Petra De Sutter; Rudy Van Coster
Journal:  Eur J Pediatr       Date:  2014-07-10       Impact factor: 3.183

5.  Simultaneous detection and quantification of mitochondrial DNA deletion(s), depletion, and over-replication in patients with mitochondrial disease.

Authors:  Ren-Kui Bai; Lee-Jun C Wong
Journal:  J Mol Diagn       Date:  2005-11       Impact factor: 5.568

6.  A novel mutation in the mitochondrial tRNA(Ser(AGY)) gene associated with mitochondrial myopathy, encephalopathy, and complex I deficiency.

Authors:  L-J C Wong; D Yim; R-K Bai; H Kwon; M M Vacek; J Zane; C L Hoppel; D S Kerr
Journal:  J Med Genet       Date:  2006-09       Impact factor: 6.318

7.  Detection of mitochondrial DNA (mtDNA) mutations.

Authors:  Ali Naini; Robert Gilkerson; Sara Shanske; Jiuhong Pang
Journal:  Methods Cell Biol       Date:  2019-12-02       Impact factor: 1.441

8.  The roles of mitochondrial tRNA mutations in non-dystrophic myotonias.

Authors:  Xue-Jiao Yu; Yu Ding
Journal:  Mitochondrial DNA B Resour       Date:  2020-11-20       Impact factor: 0.658

9.  Strong purifying selection in transmission of mammalian mitochondrial DNA.

Authors:  James Bruce Stewart; Christoph Freyer; Joanna L Elson; Anna Wredenberg; Zekiye Cansu; Aleksandra Trifunovic; Nils-Göran Larsson
Journal:  PLoS Biol       Date:  2008-01       Impact factor: 8.029

10.  Microhomology-mediated end joining is the principal mediator of double-strand break repair during mitochondrial DNA lesions.

Authors:  Satish Kumar Tadi; Robin Sebastian; Sumedha Dahal; Ravi K Babu; Bibha Choudhary; Sathees C Raghavan
Journal:  Mol Biol Cell       Date:  2015-11-25       Impact factor: 4.138
  10 in total

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