(Q35172406)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12849395%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

review article

1 reference

title

The neurology of mitochondrial DNA disease (English)

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12849395%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

0 references

1

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12849395%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

Robert William Taylor

series ordinal

2

object named as

Robert W Taylor

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12849395%20AND%20SRC:MED&resulttype=core&format=json

Douglass Matthew Turnbull

5 November 2019

series ordinal

3

object named as

Douglass M Turnbull

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12849395%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

publication date

1 October 2002

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12849395%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12849395%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

volume

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12849395%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

issue

6

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12849395%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

page(s)

343-351

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12849395%20AND%20SRC:MED&resulttype=core&format=json

Sequence and organization of the human mitochondrial genome

5 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900159-X

7 January 2021

Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900159-X

7 January 2021

The epidemiology of pathogenic mitochondrial DNA mutations

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900159-X

7 January 2021

Ubiquitin tag for sperm mitochondria

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900159-X

7 January 2021

The inheritance of mitochondrial DNA heteroplasmy: random drift, selection or both?

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900159-X

7 January 2021

Tissue-specific selection for different mtDNA genotypes in heteroplasmic mice

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900159-X

7 January 2021

MELAS mutation in mtDNA binding site for transcription termination factor causes defects in protein synthesis and in respiration but no change in levels of upstream and downstream mature transcripts

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900159-X

7 January 2021

Distribution of wild-type and common deletion forms of mtDNA in normal and respiration-deficient muscle fibers from patients with mitochondrial myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900159-X

7 January 2021

The mitochondrial DNA transfer RNA(Lys)A-->G(8344) mutation and the syndrome of myoclonic epilepsy with ragged red fibres (MERRF). Relationship of clinical phenotype to proportion of mutant mitochondrial DNA.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900159-X

7 January 2021

MELAS and MERRF. The relationship between maternal mutation load and the frequency of clinically affected offspring.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900159-X

7 January 2021

Mitochondrial DNA mutations in human disease.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900159-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900159-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900159-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900159-X

7 January 2021

Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900159-X

7 January 2021

Role of adenine nucleotide translocator 1 in mtDNA maintenance

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900159-X

7 January 2021

A third locus predisposing to multiple deletions of mtDNA in autosomal dominant progressive external ophthalmoplegia

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900159-X

7 January 2021

Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900159-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900159-X

7 January 2021

Myo-, neuro-, gastrointestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome-c-oxidase

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900159-X

7 January 2021

Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900159-X

7 January 2021

Altered thymidine metabolism due to defects of thymidine phosphorylase

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900159-X

7 January 2021

The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900159-X

7 January 2021

Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900159-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900159-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900159-X

7 January 2021

Mutation in mitochondrial tRNALeu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900159-X

7 January 2021

MELAS: clinical features, biochemistry, and molecular genetics

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900159-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900159-X

7 January 2021

Pathogenetic aspects of the A8344G mutation of mitochondrial DNA associated with MERRF syndrome and multiple symmetric lipomas

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900159-X

7 January 2021

Clinical features associated with the A-->G transition at nucleotide 8344 of mtDNA ("MERRF mutation").

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900159-X

7 January 2021

Subacute necrotizing encephalomyelopathy in an infant

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900159-X

7 January 2021

Subacute necrotizing encephalopathy: oxidative phosphorylation defects and the ATPase 6 point mutation

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900159-X

7 January 2021

A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900159-X

7 January 2021

The T9176G mtDNA mutation severely affects ATP production and results in Leigh syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900159-X

7 January 2021

Leigh syndrome and hypertrophic cardiomyopathy in an infant with a mitochondrial DNA point mutation (T8993G).

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900159-X

7 January 2021

A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900159-X

7 January 2021

Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900159-X

7 January 2021

The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy with the 11778 mutation.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900159-X

7 January 2021

Leber's hereditary optic neuropathy. Clinical manifestations of the 14484 mutation

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900159-X

7 January 2021

A new manifestation of Leber's disease and a new explanation for the agency responsible for its unusual pattern of inheritance

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900159-X

7 January 2021

Presentation and clinical investigation of mitochondrial respiratory chain disease. A study of 51 patients

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900159-X

7 January 2021

Mitochondrial function in muscle from elderly athletes.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900159-X

7 January 2021

Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900159-X

7 January 2021

MELAS associated with a mutation in the valine transfer RNA gene of mitochondrial DNA

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900159-X

7 January 2021

Progressive mitochondrial disease resulting from a novel missense mutation in the mitochondrial DNA ND3 gene.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900159-X

7 January 2021

Familial cerebellar ataxia with muscle coenzyme Q10 deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900159-X

7 January 2021

Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900159-X

7 January 2021

Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNA(Ser(UCN)) gene

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900159-X

7 January 2021

Transfection of mitochondria: strategy towards a gene therapy of mitochondrial DNA diseases

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900159-X

7 January 2021

Suppression of mutations in mitochondrial DNA by tRNAs imported from the cytoplasm

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900159-X

7 January 2021

Rescue of a deficiency in ATP synthesis by transfer of MTATP6, a mitochondrial DNA-encoded gene, to the nucleus

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900159-X

7 January 2021

Manipulating mitochondrial DNA heteroplasmy by a mitochondrially targeted restriction endonuclease

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900159-X

7 January 2021

Selective inhibition of mutant human mitochondrial DNA replication in vitro by peptide nucleic acids

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900159-X

7 January 2021

Targeting peptide nucleic acid (PNA) oligomers to mitochondria within cells by conjugation to lipophilic cations: implications for mitochondrial DNA replication, expression and disease

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900159-X

7 January 2021

Reversal of a mitochondrial DNA defect in human skeletal muscle.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900159-X

7 January 2021

Complete restoration of a wild-type mtDNA genotype in regenerating muscle fibres in a patient with a tRNA point mutation and mitochondrial encephalomyopathy

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900159-X

7 January 2021

10.1016/S1474-4422(02)00159-X

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12849395%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

1 reference