Mutations in mitochondrial tRNA genes: a frequent cause of neuromuscular diseases (Q35918739)

11 August 2017

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

1 reference

11 August 2017

1 reference

10.1093/NAR/19.7.1393

https://api.crossref.org/works/10.1093/NAR/19.7.1393

4 November 2022

author name string

J. Lauber

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1709275

4 November 2022

C. Marsac

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1709275

4 November 2022

B. Kadenbach

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1709275

4 November 2022

P. Seibel

4

1 reference

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4 November 2022

language of work or name

English

0 references

publication date

1 April 1991

1 reference

PMC publication ID

333891

11 August 2017

11 April 1991

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1709275

full work available at URL

4 November 2022

https://europepmc.org/articles/PMC333891

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1709275

https://europepmc.org/articles/PMC333891?pdf=render

4 November 2022

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1709275

http://academic.oup.com/nar/article-pdf/19/7/1393/7043391/19-7-1393.pdf

4 November 2022

file format

Portable Document Format

1 reference

Crossref

DOI

10.1093/NAR/19.7.1393

https://api.crossref.org/works/10.1093/NAR/19.7.1393

4 November 2022

published in

Nucleic Acids Research

1 reference

11 August 2017

19

1 reference

11 August 2017

7

1 reference

11 August 2017

1393-1397

1 reference

Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

11 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=333891

Kearns-Sayre syndrome with muscle mitochondrial DNA deletion

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=333891

Directly repeated sequences associated with pathogenic mitochondrial DNA deletions

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=333891

Mapping of heteroplasmic mitochondrial DNA deletions in Kearns-Sayre syndrome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=333891

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=333891

Mitochondrial DNA deletion in Pearson's marrow/pancreas syndrome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=333891

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=333891

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=333891

Increase of deleted mitochondrial DNA in the striatum in Parkinson's disease and senescence

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=333891

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=333891

Organization of the mitochondrial genome of Atlantic cod, Gadus morhua

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=333891

A new mitochondrial disease associated with mitochondrial DNA heteroplasmy

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=333891

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=333891

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=333891

Sequence and organization of the human mitochondrial genome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=333891

Assignment of two mitochondrially synthesized polypeptides to human mitochondrial DNA and their use in the study of intracellular mitochondrial interaction

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=333891

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

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=333891

MELAS syndrome involving a mother and two children

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=333891

Compilation of tRNA sequences and sequences of tRNA genes

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=333891

Computer prediction of peptide maps: assignment of polypeptides to human and mouse mitochondrial DNA genes by analysis of two-dimensional-proteolytic digest gels

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=333891

Deletions of mitochondrial DNA in Kearns-Sayre syndrome

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=333891

Myoclonic epilepsy and ragged-red fibers with cytochrome oxidase deficiency: neuropathology, biochemistry, and molecular genetics

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=333891

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

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=333891

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

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=333891

Familial mitochondrial encephalomyopathy (MERRF): genetic, pathophysiological, and biochemical characterization of a mitochondrial DNA disease

14 November 2018

1 reference

12 December 2020

Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies

1 reference

12 December 2020

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

1 reference

12 December 2020

Leber's disease and dystonia: a mitochondrial disease

1 reference

12 December 2020

Mutations of mitochondrial DNA and human death

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1093/NAR/19.7.1393

1 reference

11 August 2017

1 reference

PMC publication ID

333891

11 August 2017

1 reference

PMC publication ID

333891