Literature DB >> 12108393

Mitochondrial encephalomyopathies:gene mutation.

Serenella Servidei1.   

Abstract

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Year:  2002        PMID： 12108393     DOI： 10.1016/s0960-8966(02)00056-1

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


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  5 in total

1.  Decreased mitochondrial tRNALys steady-state levels and aminoacylation are associated with the pathogenic G8313A mitochondrial DNA mutation.

Authors:  Sandra R Bacman; David P Atencio; Carlos T Moraes
Journal:  Biochem J       Date:  2003-08-15       Impact factor: 3.857

2.  Proton MR spectroscopy in the diagnostic evaluation of suspected mitochondrial disease.

Authors:  Doris D M Lin; Thomas O Crawford; Peter B Barker
Journal:  AJNR Am J Neuroradiol       Date:  2003-01       Impact factor: 3.825

3.  Aminoacylation properties of pathology-related human mitochondrial tRNA(Lys) variants.

Authors:  Marie Sissler; Mark Helm; Magali Frugier; Richard Giege; Catherine Florentz
Journal:  RNA       Date:  2004-05       Impact factor: 4.942

Review 4.  Techniques and pitfalls in the detection of pathogenic mitochondrial DNA mutations.

Authors:  Carlos T Moraes; David P Atencio; Jose Oca-Cossio; Francisca Diaz
Journal:  J Mol Diagn       Date:  2003-11       Impact factor: 5.568

5.  Cochlear Implantation in Patients with Mitochondrial Gene Mutation: Decline in Speech Perception in Retrospective Long-Term Follow-Up Study.

Authors:  Kai Kanemoto; Akinori Kashio; Erika Ogata; Yusuke Akamatsu; Hajime Koyama; Tsukasa Uranaka; Yujiro Hoshi; Shinichi Iwasaki; Tatsuya Yamasoba
Journal:  Life (Basel)       Date:  2022-03-26
  5 in total

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