(Q35243825)

7 August 2017

1 reference

title

Defects of mitochondrial DNA (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1341953

16 September 2022

0 references

1

M. Zeviani

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1341953

16 September 2022

C. Antozzi

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1341953

16 September 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=1341953

16 September 2022

publication date

1 April 1992

1 reference

7 August 2017

1 reference

7 August 2017

volume

2

1 reference

7 August 2017

issue

2

1 reference

7 August 2017

page(s)

121-132

1 reference

Sequence and organization of the human mitochondrial genome

7 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1992.TB00680.X

Replication of animal mitochondrial DNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1992.TB00680.X

Paternal inheritance of mitochondrial DNA in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1992.TB00680.X

Mitochondrial DNA mutations and neuromuscular disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1992.TB00680.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1992.TB00680.X

Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1992.TB00680.X

Leber's hereditary optic neuropathy: Genetic, biochemical, and phosphorus magnetic resonance spectroscopy study in an Italian family

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1992.TB00680.X

X chromosome-linked and mitochondrial gene control of Leber hereditary optic neuropathy: evidence from segregation analysis for dependence on X chromosome inactivation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1992.TB00680.X

Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1992.TB00680.X

Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1992.TB00680.X

Identification of point mutations by mispairing PCR as exemplified in MERRF disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1992.TB00680.X

Mitochondrial encephalopathies: molecular genetic diagnosis from blood samples

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1992.TB00680.X

A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1992.TB00680.X

Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: A distinctive clinical syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1992.TB00680.X

Mitochondrial leucine tRNA mutation in a mitochondrial encephalomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1992.TB00680.X

Widespread tissue distribution of a tRNALeu(UUR) mutation in the mitochondrial DNA of a patient with MELAS syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1992.TB00680.X

Mutations in mitochondrial tRNA genes: a frequent cause of neuromuscular diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1992.TB00680.X

In vitro genetic transfer of protein synthesis and respiration defects to mitochondrial DNA-less cells with myopathy-patient mitochondria

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1992.TB00680.X

Impairment of mitochondrial transcription termination by a point mutation associated with the MELAS subgroup of mitochondrial encephalomyopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1992.TB00680.X

Vascular involvement in mitochondrial myopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1992.TB00680.X

Strongly succinate dehydrogenase-reactive blood vessels in muscles from patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1992.TB00680.X

Duplications of mitochondrial DNA in mitochondrial myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1992.TB00680.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1992.TB00680.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1992.TB00680.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1992.TB00680.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1992.TB00680.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1992.TB00680.X

Directly repeated sequences associated with pathogenic mitochondrial DNA deletions

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1992.TB00680.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1992.TB00680.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1992.TB00680.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1992.TB00680.X

Introduction of disease-related mitochondrial DNA deletions into HeLa cells lacking mitochondrial DNA results in mitochondrial dysfunction

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1992.TB00680.X

Mitochondrial encephalomyopathy (MELAS) with mental disorder. CT, MRI and SPECT findings

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1992.TB00680.X

The clinical features of mitochondrial myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1992.TB00680.X

Mitochondrial myopathies with necrotizing encephalopathy of the Leigh type.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1992.TB00680.X

Movement disorders in mitochondrial myopathies. A study of nine cases with two autopsy studies

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1992.TB00680.X

Fluctuating MR images with mitochondrial encephalopathy, lactic acidosis, stroke-like syndrome (MELAS).

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1992.TB00680.X

Deletion of mitochondrial DNA in patients with combined features of Kearns-Sayre and MELAS syndromes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1992.TB00680.X

Multiple defects of the mitochondrial respiratory chain in a mitochondrial encephalopathy (MERRF): a clinical, biochemical and molecular study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1992.TB00680.X

Mitochondrial DNA mutations associated with neuromuscular diseases: analysis and diagnosis using the polymerase chain reaction

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1992.TB00680.X

KEARNS-SAYRE SYNDROME WITH MUSCLE MITOCHONDRIAL DNA DELETION

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1992.TB00680.X

MITOCHONDRIAL DNA DELETION IN PEARSON'S MARROW/PANCREAS SYNDROME

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1992.TB00680.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1992.TB00680.X

Clinical spectrum of mitochondrial DNA mutation at base pair 8344

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1992.TB00680.X

Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1992.TB00680.X

10.1111/J.1750-3639.1992.TB00680.X

21 January 2018

Identifiers

DOI

1 reference

7 August 2017

1 reference