Literature DB >> 9408091

Clinical features, investigation, and management of patients with defects of mitochondrial DNA.

P F Chinnery, D M Turnbull.   

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Year:  1997        PMID： 9408091      PMCID： PMC2169824          DOI： 10.1136/jnnp.63.5.559

Source DB:  PubMed          Journal:  J Neurol Neurosurg Psychiatry        ISSN： 0022-3050            Impact factor:   10.154


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  23 in total

1.  Relaxed replication of mtDNA: A model with implications for the expression of disease.

Authors:  P F Chinnery; D C Samuels
Journal:  Am J Hum Genet       Date:  1999-04       Impact factor: 11.025

Review 2.  Clinical mitochondrial genetics.

Authors:  P F Chinnery; N Howell; R M Andrews; D M Turnbull
Journal:  J Med Genet       Date:  1999-06       Impact factor: 6.318

3.  Phenotype variability in 130 adult patients with respiratory chain disorders.

Authors:  J Finsterer; C Jarius; H Eichberger
Journal:  J Inherit Metab Dis       Date:  2001-10       Impact factor: 4.982

4.  Mitochondrial DNA mutations and pathogenicity.

Authors:  P F Chinnery; D M Turnbull; N Howell; R M Andrews
Journal:  J Med Genet       Date:  1998-08       Impact factor: 6.318

Review 5.  Mitochondrial genotype and clinical phenotype.

Authors:  P F Chinnery; D M Turnbull
Journal:  J Inherit Metab Dis       Date:  1998-06       Impact factor: 4.982

6.  The determination of complete human mitochondrial DNA sequences in single cells: implications for the study of somatic mitochondrial DNA point mutations.

Authors:  R W Taylor; G A Taylor; S E Durham; D M Turnbull
Journal:  Nucleic Acids Res       Date:  2001-08-01       Impact factor: 16.971

7.  An mtDNA mutation in the initiation codon of the cytochrome C oxidase subunit II gene results in lower levels of the protein and a mitochondrial encephalomyopathy.

Authors:  K M Clark; R W Taylor; M A Johnson; P F Chinnery; Z M Chrzanowska-Lightowlers; R M Andrews; I P Nelson; N W Wood; P J Lamont; M G Hanna; R N Lightowlers; D M Turnbull
Journal:  Am J Hum Genet       Date:  1999-05       Impact factor: 11.025

8.  Diagnostic value of mitochondrial DNA mutation analysis in juvenile unilateral ptosis.

Authors:  Thorsten Okulla; Wolfram S Kunz; Thomas Klockgether; Rolf Schröder; Cornelia Kornblum
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  2004-10-13       Impact factor: 3.117

9.  Human NADH:ubiquinone oxidoreductase.

Authors:  J Smeitink; R Sengers; F Trijbels; L van den Heuvel
Journal:  J Bioenerg Biomembr       Date:  2001-06       Impact factor: 2.945

Review 10.  Literature review, case report, and expert discussion of prolonged refractory status epilepticus.

Authors:  T K Robakis; L J Hirsch
Journal:  Neurocrit Care       Date:  2006       Impact factor: 3.210
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