(Q35848675)

10 August 2017

1 reference

title

Deletions of the mitochondrial genome (English)

1 reference

chromosomal deletion syndrome

10 August 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1528008

5 October 2022

author name string

A. E. Harding

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1528008

5 October 2022

S. R. Hammans

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1528008

5 October 2022

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1528008

5 October 2022

publication date

1 January 1992

1 reference

Journal of Inherited Metabolic Disease

10 August 2017

1 reference

10 August 2017

15

1 reference

10 August 2017

4

1 reference

10 August 2017

480-486

1 reference

https://scigraph.springernature.com/pub.10.1007/bf01799606

10 August 2017

0 references

cites work

Replication-competent human mitochondrial DNA lacking the heavy-strand promoter region

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FBF01799606

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

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FBF01799606

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

21 January 2018

1 reference

12 December 2020

Mitochondrial myopathy: a genetic study of 71 cases

1 reference

12 December 2020

Germ-line deletions of mtDNA in mitochondrial myopathy

1 reference

12 December 2020

Different copy numbers of apparently identically deleted mitochondrial DNA in tissues from a patient with Kearns-Sayre syndrome detected by PCR.

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

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

1 reference

12 December 2020

A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction

1 reference

12 December 2020

Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy

1 reference

12 December 2020

Mitochondrial inheritance in a mitochondrially mediated disease

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Progressive increase of the mutated mitochondrial DNA fraction in Kearns-Sayre syndrome

1 reference

12 December 2020

Mitochondrial DNA polymorphism in mitochondrial myopathy

1 reference

12 December 2020

Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies

1 reference

12 December 2020

Molecular insight into the asymmetric distribution of pathogenetic human mitochondrial DNA deletions

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Mitochondrial complex I deficiency in Parkinson's disease

1 reference

12 December 2020

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

1 reference

12 December 2020

Deletions of mitochondrial DNA in Kearns-Sayre syndrome

1 reference

12 December 2020

Pearson syndrome and mitochondrial encephalomyopathy in a patient with a deletion of mtDNA.

1 reference

12 December 2020

Mitochondrial DNA mutations as an important contributor to ageing and degenerative diseases

1 reference

12 December 2020

Muscle development in the human fetus as exemplified by m. sartorius: a quantitative study

1 reference

12 December 2020

The clinical features of mitochondrial myopathy.

1 reference

12 December 2020

Quantitative determination of deleted mitochondrial DNA relative to normal DNA in parkinsonian striatum by a kinetic PCR analysis

1 reference

12 December 2020

Mitochondrial DNA analysis in Parkinson's disease

1 reference

12 December 2020

Mitochondrial myopathies

1 reference

12 December 2020

A molecular genetic study of focal histochemical defects in mitochondrial encephalomyopathies

1 reference

12 December 2020

Duplications of mitochondrial DNA in mitochondrial myopathy

1 reference

12 December 2020

Biogenesis of mitochondria

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF01799606

1 reference

10 August 2017

1 reference