Literature DB >> 9700589

Mitochondrial genotype and clinical phenotype.

P F Chinnery1, D M Turnbull.   

Abstract

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Year:  1998        PMID： 9700589     DOI： 10.1023/a:1005357221101

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  26 in total

1.  A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies.

Authors:  Y Goto; I Nonaka; S Horai
Journal:  Nature       Date:  1990-12-13       Impact factor: 49.962

Review 2.  Maternal inheritance and the evaluation of oxidative phosphorylation diseases.

Authors:  J M Shoffner
Journal:  Lancet       Date:  1996-11-09       Impact factor: 79.321

Review 3.  Mitochondrial DNA mutations and pathogenesis.

Authors:  E A Schon; E Bonilla; S DiMauro
Journal:  J Bioenerg Biomembr       Date:  1997-04       Impact factor: 2.945

4.  Mitochondrial encephalomyopathies: gene mutation.

Authors: 
Journal:  Neuromuscul Disord       Date:  1997-03       Impact factor: 4.296

5.  Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy.

Authors:  D C Wallace; G Singh; M T Lott; J A Hodge; T G Schurr; A M Lezza; L J Elsas; E K Nikoskelainen
Journal:  Science       Date:  1988-12-09       Impact factor: 47.728

6.  Tissue-specific selection for different mtDNA genotypes in heteroplasmic mice.

Authors:  J P Jenuth; A C Peterson; E A Shoubridge
Journal:  Nat Genet       Date:  1997-05       Impact factor: 38.330

7.  Extremely high levels of mutant mtDNAs co-localize with cytochrome c oxidase-negative ragged-red fibers in patients harboring a point mutation at nt 3243.

Authors:  V Petruzzella; C T Moraes; M C Sano; E Bonilla; S DiMauro; E A Schon
Journal:  Hum Mol Genet       Date:  1994-03       Impact factor: 6.150

8.  Detection of "deleted" mitochondrial genomes in cytochrome-c oxidase-deficient muscle fibers of a patient with Kearns-Sayre syndrome.

Authors:  S Mita; B Schmidt; E A Schon; S DiMauro; E Bonilla
Journal:  Proc Natl Acad Sci U S A       Date:  1989-12       Impact factor: 11.205

9.  MtDNA mutation in MERRF syndrome causes defective aminoacylation of tRNA(Lys) and premature translation termination.

Authors:  J A Enriquez; A Chomyn; G Attardi
Journal:  Nat Genet       Date:  1995-05       Impact factor: 38.330

Review 10.  Mitochondrial diabetes mellitus: a review.

Authors:  K D Gerbitz; J M van den Ouweland; J A Maassen; M Jaksch
Journal:  Biochim Biophys Acta       Date:  1995-05-24
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