(Q35198608)

7 August 2017

title

Nucleus-driven multiple large-scale deletions of the human mitochondrial genome: a new autosomal dominant disease (English)

1 reference

autosomal dominant disease

7 August 2017

main subject

1 reference

Zeviani M

1 reference

7 August 2017

Bresolin N

1 reference

7 August 2017

Gellera C

1 reference

7 August 2017

Bordoni A

1 reference

7 August 2017

Pannacci M

1 reference

7 August 2017

Amati P

1 reference

7 August 2017

Moggio M

1 reference

7 August 2017

Servidei S

1 reference

7 August 2017

Scarlato G

1 reference

7 August 2017

DiDonato S

1 reference

7 August 2017

language of work or name

English

0 references

publication date

1 December 1990

1 reference

American Journal of Human Genetics

7 August 2017

published in

1 reference

7 August 2017

1 reference

7 August 2017

1 reference

7 August 2017

page(s)

904-914

1 reference

Sequence and organization of the human mitochondrial genome

7 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683915

The structure and evolution of the human beta-globin gene family

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683915

Electron transfer flavoprotein from pig liver mitochondria. A simple purification and re-evaluation of some of the molecular properties

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683915

Structure and evolution of organelle genomes.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683915

A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683915

Replication of animal mitochondrial DNA.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683915

Characterization of a mitochondrial protein binding to single-stranded DNA

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683915

Deletions of mitochondrial DNA in Kearns-Sayre syndrome

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683915

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683915

Directly repeated sequences associated with pathogenic mitochondrial DNA deletions

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683915

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683915

Molecular population genetics of mtDNA size variation in crickets

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683915

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683915

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683915

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683915

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683915

Detection of specific sequences among DNA fragments separated by gel electrophoresis

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683915

DNA sequencing with chain-terminating inhibitors

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683915

Widespread tissue distribution of mitochondrial DNA deletions in Kearns-Sayre syndrome

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683915

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683915

Identical mitochondrial DNA deletion in blood and muscle

15 November 2018

1 reference

12 December 2020

Mitochondrial encephalomyopathies

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Tissue distribution and transmission of mitochondrial DNA deletions in mitochondrial myopathies

1 reference

12 December 2020

Maternal inheritance of mammalian mitochondrial DNA

1 reference

12 December 2020

Characterization of a rat liver mitochondrial DNA-protein complex. Replicative intermediates are protected against branch migrational loss

1 reference

12 December 2020

Rapid isolation of animal mitochondrial DNA by alkaline extraction

1 reference

12 December 2020

Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies

1 reference

12 December 2020

Identifiers

PMC publication ID

1683915

1 reference

7 August 2017

1 reference