(Q24607395)

2

0 references

E Bonilla

3

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S Shanske

4

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S DiMauro

5

0 references

E A Schon

Molecular and Cellular Biology

6

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language of work or name

English

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publication date

March 1991

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published in

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volume

11

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issue

3

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page(s)

1631-7

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cites work

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Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

7 April 2017

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Deletions of mitochondrial DNA in Kearns-Sayre syndrome

7 April 2017

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Promoter selection in human mitochondria involves binding of a transcription factor to orientation-independent upstream regulatory elements

7 April 2017

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Nondroplet ultrastructural demonstration of cytochrome oxidase activity with a polymerizing osmiophilic reagent, diaminobenzidine (DAB).

7 April 2017

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Initiation of transcription from each of the two human mitochondrial promoters requires unique nucleotides at the transcriptional start sites

27 September 2017

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Purification and characterization of human mitochondrial transcription factor 1.

27 September 2017

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Priming of human mitochondrial DNA replication occurs at the light-strand promoter

27 September 2017

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An improved method for directly sequencing PCR amplified material using dimethyl sulphoxide

27 September 2017

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Directly repeated sequences associated with pathogenic mitochondrial DNA deletions

27 September 2017

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Mapping of heteroplasmic mitochondrial DNA deletions in Kearns-Sayre syndrome

27 September 2017

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Deletions of muscle mitochondrial DNA in mitochondrial myopathies: sequence analysis and possible mechanisms.

27 September 2017

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Identification of transcriptional regulatory elements in human mitochondrial DNA by linker substitution analysis

27 September 2017

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

27 September 2017

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Spontaneous Kearns-Sayre/chronic external ophthalmoplegia plus syndrome associated with a mitochondrial DNA deletion: a slip-replication model and metabolic therapy

27 September 2017

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Recombination via flanking direct repeats is a major cause of large-scale deletions of human mitochondrial DNA.

27 September 2017

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Transcription and translation of deleted mitochondrial genomes in Kearns-Sayre syndrome: implications for pathogenesis

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Precise identification of individual promoters for transcription of each strand of human mitochondrial DNA.

27 September 2017

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A direct repeat is a hotspot for large-scale deletion of human mitochondrial DNA.

30 May 2018

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Flexible recognition of rapidly evolving promoter sequences by mitochondrial transcription factor 1.

30 May 2018

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Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome

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Deletion mutants are functionally dominant over wild-type mitochondrial genomes in skeletal muscle fiber segments in mitochondrial disease.

30 May 2018

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The pattern of transcription of the human mitochondrial rRNA genes reveals two overlapping transcription units

30 May 2018

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In vitro transcription of human mitochondrial DNA. Identification of specific light strand transcripts from the displacement loop region.

28 November 2018

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An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region

28 November 2018

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Preferential amplification and molecular characterization of junction sequences of a pathogenetic deletion in human mitochondrial DNA.

28 November 2018

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28 November 2018

Mitochondrial myopathies

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12 December 2020

Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies

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12 December 2020

Maternal inheritance of deleted mitochondrial DNA in a family with mitochondrial myopathy

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12 December 2020

Multiple deletions in mitochondrial DNA at direct repeats of non-D-loop regions in cases of familial mitochondrial myopathy

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12 December 2020

Mitochondrial myopathies: clinical and biochemical features of 30 patients with major deletions of muscle mitochondrial DNA

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12 December 2020

Tissue distribution and transmission of mitochondrial DNA deletions in mitochondrial myopathies

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12 December 2020

RAPID EXAMINATION OF MUSCLE TISSUE. AN IMPROVED TRICHROME METHOD FOR FRESH-FROZEN BIOPSY SECTIONS

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12 December 2020