(Q73987203)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9415537%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

title

Mitochondrial DNA defects in Brazilian patients with chronic progressive external ophthalmoplegia (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9415537%20AND%20SRC:MED&resulttype=core&format=json

chronic progressive external ophthalmoplegia

8 November 2019

main subject

0 references

author name string

B H Kiyomoto

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9415537%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

C H Tengan

2

1 reference

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8 November 2019

C T Moraes

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9415537%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

A S Oliveira

4

1 reference

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8 November 2019

A A Gabbai

5

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8 November 2019

publication date

1 November 1997

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Journal of the Neurological Sciences

8 November 2019

published in

1 reference

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8 November 2019

volume

152

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8 November 2019

issue

2

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8 November 2019

page(s)

160-165

1 reference

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Sequence and organization of the human mitochondrial genome

8 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900158-5

Multiple mitochondrial DNA deletions associated with autosomal recessive ophthalmoplegia and severe cardiomyopathy.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900158-5

Kearns-Sayre syndrome associated with mitochondrial DNA deletion or duplication: a molecular genetic and pathological study

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900158-5

Contrasting histochemical features of various mitochondrial syndromes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900158-5

Deletions of mitochondrial DNA in Kearns-Sayre syndrome and ocular myopathies: Genetic, biochemical and morphological studies

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900158-5

Mitochondrial myopathies: divergences of genetic deletions, biochemical defects and the clinical syndromes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900158-5

Chronic progressive external ophthalmoplegia: a correlative study of mitochondrial DNA deletions and their phenotypic expression in muscle biopsies

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900158-5

Evidence for intramitochondrial complementation between deleted and normal mitochondrial DNA in some patients with mitochondrial myopathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900158-5

A molecular genetic study of focal histochemical defects in mitochondrial encephalomyopathies

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900158-5

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900158-5

A partial deficiency of cytochrome c oxidase in chronic progressive external ophthalmoplegia.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900158-5

Mitochondrial encephalomyopathy with autosomal dominant inheritance: a clinical and genetic entity of mitochondrial diseases

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900158-5

Widespread tissue distribution of multiple mitochondrial DNA deletions in familial mitochondrial myopathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900158-5

Chronic progressive external ophthalmoplegia with ragged-red fibers: clinical, morphological and genetic investigations in 43 patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900158-5

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900158-5

Atypical clinical presentations associated with the MELAS mutation at position 3243 of human mitochondrial DNA

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900158-5

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900158-5

Molecular analysis of the muscle pathology associated with mitochondrial DNA deletions

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900158-5

Mitochondrial DNA deletions and cytochrome c oxidase deficiency in muscle fibres

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900158-5

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900158-5

The clinical features of mitochondrial myopathy.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900158-5

Kearns-Sayre syndrome: different amounts of deleted mitochondrial DNA are present in several autoptic tissues

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900158-5

Are duplications of mitochondrial DNA characteristic of Kearns-Sayre syndrome?

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900158-5

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900158-5

Dominantly inherited mitochondrial myopathy with multiple deletions of mitochondrial DNA: clinical, morphologic, and biochemical studies

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900158-5

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900158-5

Variability of the expression of muscle mitochondrial damage in ocular mitochondrial myopathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900158-5

An autosomal locus predisposing to deletions of mitochondrial DNA

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900158-5

Multiple deletions of mitochondrial DNA in several tissues of a patient with severe retarded depression and familial progressive external ophthalmoplegia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900158-5

Detection and analysis of mitochondrial DNA deletions by whole genome PCR.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900158-5

Differential diagnosis of fatal and benign cytochrome c oxidase-deficient myopathies of infancy: an immunohistochemical approach

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900158-5

Partial cytochrome oxidase deficiency without subsarcolemmal accumulation of mitochondria in chronic progressive external ophthalmoplegia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900158-5

Mitochondrial DNA deletions in mitochondrial cytopathies: Observations in 19 patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900158-5

Skeletal muscle pathology in chronic progressive external ophthalmoplegia with ragged-red fibers

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900158-5

Tissue distribution and transmission of mitochondrial DNA deletions in mitochondrial myopathies

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900158-5

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900158-5

10.1016/S0022-510X(97)00158-5

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9415537%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

1 reference