(Q36707793)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17222702%20AND%20SRC:MED&resulttype=core&format=json

24 December 2019

review article

1 reference

title

Mitochondrial disease--its impact, etiology, and pathology (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17222702%20AND%20SRC:MED&resulttype=core&format=json

24 December 2019

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17222702%20AND%20SRC:MED&resulttype=core&format=json

24 December 2019

author name string

R W Taylor

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17222702%20AND%20SRC:MED&resulttype=core&format=json

24 December 2019

D M Turnbull

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17222702%20AND%20SRC:MED&resulttype=core&format=json

24 December 2019

publication date

1 January 2007

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17222702%20AND%20SRC:MED&resulttype=core&format=json

Current Topics in Developmental Biology

24 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17222702%20AND%20SRC:MED&resulttype=core&format=json

24 December 2019

volume

77

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17222702%20AND%20SRC:MED&resulttype=core&format=json

24 December 2019

page(s)

113-155

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17222702%20AND%20SRC:MED&resulttype=core&format=json

Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO)

24 December 2019

cites work

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7 January 2021

Linkage disequilibrium and recombination in hominid mitochondrial DNA

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7 January 2021

Maternally transmitted diabetes and deafness associated with a 10.4 kb mitochondrial DNA deletion

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7 January 2021

Atypical MELAS syndrome associated with a new mitochondrial tRNA glutamine point mutation

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7 January 2021

Nuclear genetic control of mitochondrial DNA segregation

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7 January 2021

High levels of mitochondrial DNA deletions in substantia nigra neurons in aging and Parkinson disease

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7 January 2021

Mutation screening of the mitochondrial genome using denaturing high-performance liquid chromatography.

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7 January 2021

Assaying mitochondrial respiratory complex activity in mitochondria isolated from human cells and tissues.

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7 January 2021

Mouse L cell mitochondrial DNA molecules are selected randomly for replication throughout the cell cycle

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7 January 2021

Concluding remarks: The mitochondrial DNA replication bubble has not burst

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7 January 2021

The mitochondrial DNA replication bubble has not burst

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7 January 2021

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

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7 January 2021

Mammalian mitochondrial DNA replicates bidirectionally from an initiation zone

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7 January 2021

Role of mitochondrial DNA mutations in human aging: implications for the central nervous system and muscle

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7 January 2021

Replication of mitochondrial DNA occurs by strand displacement with alternative light-strand origins, not via a strand-coupled mechanism

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7 January 2021

Phenotype of non-syndromic deafness associated with the mitochondrial A1555G mutation is modulated by mitochondrial RNA modifying enzymes MTO1 and GTPBP3

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7 January 2021

Oxidative stress, mitochondrial dysfunction and cellular stress response in Friedreich's ataxia

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7 January 2021

A new mtDNA mutation in the tRNA(Leu(UUR)) gene associated with ocular myopathy

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7 January 2021

Epileptic phenotypes associated with mitochondrial disorders.

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7 January 2021

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

1 reference

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7 January 2021

Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease

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7 January 2021

Phylogenetic analysis of the mitochondrial genome indicates significant differences between patients with Alzheimer disease and controls in a French-Canadian founder population

1 reference

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7 January 2021

Precise identification of individual promoters for transcription of each strand of human mitochondrial DNA.

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

Priming of human mitochondrial DNA replication occurs at the light-strand promoter

1 reference

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7 January 2021

Relaxed replication of mtDNA: A model with implications for the expression of disease

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes.

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

The epidemiology of pathogenic mitochondrial DNA mutations

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

Very low levels of the mtDNA A3243G mutation associated with mitochondrial dysfunction in vivo

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

Role of the mitochondrial DNA 16184–16193 poly-C tract in type 2 diabetes

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

The mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episode syndrome-associated human mitochondrial tRNALeu(UUR) mutation causes aminoacylation deficiency and concomitant reduced association of mRNA with ribosomes.

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

Replication of animal mitochondrial DNA.

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

Replication and Transcription of Vertebrate Mitochondrial DNA

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https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

High frequency of homoplasmic mitochondrial DNA mutations in human tumors can be explained without selection

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

Heterologous mitochondrial DNA recombination in human cells

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

Clinical spectrum of the MELAS mutation in a large pedigree.

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

A mitochondrial tRNA(Val) gene mutation (G1642A) in a patient with mitochondrial myopathy, lactic acidosis, and stroke-like episodes

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure.

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

Clinical and diagnostic characteristics of complex III deficiency due to mutations in the BCS1L gene

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https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

Mitochondrial 3243 A-->G mutation (MELAS mutation) associated with painful muscle stiffness

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7 January 2021

Mitochondrial DNA mutations in human disease.

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7 January 2021

Mitochondrial transcription factor A regulates mtDNA copy number in mammals

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7 January 2021

Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion

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7 January 2021

Analysis of European mtDNAs for recombination

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7 January 2021

The evolving diabetes burden in the United States

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7 January 2021

MtDNA mutation in MERRF syndrome causes defective aminoacylation of tRNA(Lys) and premature translation termination

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7 January 2021

Substitution rate variation among sites in mitochondrial hypervariable region I of humans and chimpanzees

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7 January 2021

Mitochondrial transcription factors B1 and B2 activate transcription of human mtDNA

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7 January 2021

Ophthalmologic manifestations in MELAS syndrome.

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7 January 2021

Replication and transcription of mammalian mitochondrial DNA.

1 reference

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7 January 2021

Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA.

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

Lack of paternal inheritance of muscle mitochondrial DNA in sporadic mitochondrial myopathies

1 reference

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7 January 2021

Promoter selection in human mitochondria involves binding of a transcription factor to orientation-independent upstream regulatory elements

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

Facile detection of mitochondrial DNA mutations in tumors and bodily fluids

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

Shaping the mitochondrial proteome

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

The mitochondrial RNA polymerase contributes critically to promoter specificity in mammalian cells

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

Mitochondrial diabetes mellitus: a review

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

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%2FS0070-2153%2806%2977005-3

7 January 2021

A new mtDNA mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS).

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

A novel point mutation in the mitochondrial tRNA(Leu)(UUR) gene in a family with mitochondrial myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

A new point mutation at nucleotide pair 3291 of the mitochondrial tRNA(Leu(UUR)) gene in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS)

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

Muscle pain, fatigue, and mitochondriopathies

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

Failure to detect “cap” structures in mitochondrial DNA-coded poly(A)-containing RNA from HeLa cells

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

Mitochondrial DNA transmission of the mitochondrial defect in Parkinson's disease

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

Nuclear background determines biochemical phenotype in the deafness-associated mitochondrial 12S rRNA mutation

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

Cardiomyopathy in respiratory chain disorders

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

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

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7 January 2021

The mitochondrial DNA transfer RNALeu(UUR) A-->G(3243) mutation. A clinical and genetic study

1 reference

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7 January 2021

Impaired mitochondrial translation in human myoblasts harbouring the mitochondrial DNA tRNA lysine 8344 A → G (MERRF) mutation: relationship to proportion of mutant mitochondrial DNA

1 reference

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7 January 2021

Reduction of mitochondrial tRNALeu(UUR) aminoacylation by some MELAS-associated mutations

1 reference

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7 January 2021

Mitochondrial DNA diseases: Genotype and phenotype in leber's hereditary optic neuropathy

1 reference

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7 January 2021

Free radical theory of aging

1 reference

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7 January 2021

Detection and quantification of mitochondrial DNA deletions in individual cells by real-time PCR.

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

Somatic mitochondrial DNA mutations in adult-onset leukaemia

1 reference

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7 January 2021

An Icelandic example of the impact of population structure on association studies

1 reference

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7 January 2021

Reduced-median-network analysis of complete mitochondrial DNA coding-region sequences for the major African, Asian, and European haplogroups

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder

1 reference

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7 January 2021

Coupled leading- and lagging-strand synthesis of mammalian mitochondrial DNA.

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

Leber hereditary optic neuropathy: clinical and molecular genetic findings

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

Infantile Diffuse Cerebral Degeneration With Hepatic Cirrhosis

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

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%2FS0070-2153%2806%2977005-3

7 January 2021

Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

Mitochondrial mutations in early stage prostate cancer and bodily fluids

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

Role of adenine nucleotide translocator 1 in mtDNA maintenance

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

A common mitochondrial DNA variant associated with susceptibility to dilated cardiomyopathy in two different populations

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

Defects in mitochondrial protein synthesis and respiratory chain activity segregate with the tRNA(Leu(UUR)) mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

Mutations of the mitochondrial ND1 gene as a cause of MELAS.

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

High frequency of mitochondrial DNA mutations in glioblastoma multiforme identified by direct sequence comparison to blood samples

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

TWINKLE Has 5' -> 3' DNA helicase activity and is specifically stimulated by mitochondrial single-stranded DNA-binding protein

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

Mitochondrial DNA deletions are abundant and cause functional impairment in aged human substantia nigra neurons.

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

Mitochondrial DNA mutations, oxidative stress, and apoptosis in mammalian aging

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

Chronic Parkinsonism in humans due to a product of meperidine-analog synthesis

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

Subacute necrotizing encephalomyelopathy in an infant

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

Mammalian mitochondrial genetics: heredity, heteroplasmy and disease

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

Is the mitochondrial complex I ND5 gene a hot-spot for MELAS causing mutations?

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

Protein import into mitochondria: origins and functions today (review).

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

Deficit of in vivo mitochondrial ATP production in patients with Friedreich ataxia

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

Isolated complex I deficiency in children: clinical, biochemical and genetic aspects

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

Localization of the Wilson's disease protein product to mitochondria

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

Leber hereditary optic neuropathy in Australia

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes: prevalence of the mutation in an adult population.

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

The epidemiology of Leber hereditary optic neuropathy in the North East of England

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

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%2FS0070-2153%2806%2977005-3

7 January 2021

Cell cycle dependent morphology changes and associated mitochondrial DNA redistribution in mitochondria of human cell lines.

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

Genetic and evolutionary consequences of symbiosis

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

Correlation between clinical and molecular features in two MELAS families

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

The neurology of mitochondrial DNA disease.

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

Familial myopathy: new insights into the T14709C mitochondrial tRNA mutation.

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

A novel sporadic mutation in cytochrome c oxidase subunit II as a cause of rhabdomyolysis

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

Failure of the ubiquitin-proteasome system in Parkinson's disease

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

Defective mitochondrial translation caused by a ribosomal protein (MRPS16) mutation

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

Distinctive features of the 5'-terminal sequences of the human mitochondrial mRNAs

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

Identification of initiation sites for heavy-strand and light-strand transcription in human mitochondrial DNA

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

Pearson's marrow/pancreas syndrome: a histological and genetic study

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

Multiple independent occurrence of the 3243 mutation in mitochondrial tRNA(leuUUR) in patients with the MELAS phenotype

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

Respiratory chain activity in tissues from patients (MELAS) with a point mutation of the mitochondrial genome [tRNALeu(UUR) ]

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

tRNA punctuation model of RNA processing in human mitochondria

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

Tissue distribution and disease manifestations of the tRNA(Lys) A-->G(8344) mitochondrial DNA mutation in a case of myoclonus epilepsy and ragged red fibres

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

Mechanism of somatic mitochondrial DNA mutations associated with age and diseases

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

The pathogenic A3243G mutation in human mitochondrial tRNALeu(UUR) decreases the efficiency of aminoacylation

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

Somatic mutations of the mitochondrial genome in human colorectal tumours

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

Duplications of mitochondrial DNA in Kearns-Sayre syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

Mitochondrial genetics '98 is the bottleneck cracked?

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

Type 2 diabetes is associated with a common mitochondrial variant: evidence from a population-based case-control study.

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

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%2FS0070-2153%2806%2977005-3

7 January 2021

Mitochondrial DNA haplogroup cluster UKJT reduces the risk of PD.

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

Leigh syndrome: clinical features and biochemical and DNA abnormalities.

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness.

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

Association of the T14709C mutation of mitochondrial DNA with maternally inherited diabetes mellitus and/or deafness in an Italian family

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

mt4216C variant in linkage with the mtDNA TJ cluster may confer a susceptibility to mitochondrial dysfunction resulting in an increased risk of Parkinson's disease in the Irish

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

UKPDS 21: low prevalence of the mitochondrial transfer RNA gene (tRNA(Leu(UUR))) mutation at position 3243bp in UK Caucasian type 2 diabetic patients.

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

The emerging concept of mitochondrial cardiomyopathies

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

Rare creation of recombinant mtDNA haplotypes in mammalian tissues

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

Cytochrome c oxidase deficiency presenting as recurrent neonatal myoglobinuria

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

The epidemiology of mitochondrial disorders--past, present and future

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

Paternal inheritance of mitochondrial DNA

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

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%2FS0070-2153%2806%2977005-3

7 January 2021

The ABCs of mitochondrial transcription.

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

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%2FS0070-2153%2806%2977005-3

7 January 2021

Aminoacylation properties of pathology-related human mitochondrial tRNA(Lys) variants

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

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%2FS0070-2153%2806%2977005-3

7 January 2021

Altered thymidine metabolism due to defects of thymidine phosphorylase

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

Mitochondrial myopathy and ophthalmoplegia in a sporadic patient with the 5698G-->A mitochondrial DNA mutation.

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

Mitochondrial DNA transfer RNA gene sequence variations in patients with mitochondrial disorders.

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

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%2FS0070-2153%2806%2977005-3

7 January 2021

Origin and functional consequences of the complex I defect in Parkinson's disease

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

Mitochondrial DNA mutations in human disease

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

Mitochondrial DNA mutations in human colonic crypt stem cells

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy.

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

The diagnosis of mitochondrial muscle disease.

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

Maternally inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNASer(UCN) gene.

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

The 7472insC mitochondrial DNA mutation impairs the synthesis and extent of aminoacylation of tRNASer(UCN) but not its structure or rate of turnover

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

Ekbom's syndrome of photomyoclonus, cerebellar ataxia and cervical lipoma is associated with the tRNA(Lys) A8344G mutation in mitochondrial DNA

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

Respiratory chain complex I deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

Premature ageing in mice expressing defective mitochondrial DNA polymerase

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

Systematic review of incidence studies of Parkinson's disease

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

Childhood encephalopathies and myopathies: a prospective study in a defined population to assess the frequency of mitochondrial disorders

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

Hereditary early-onset Parkinson's disease caused by mutations in PINK1

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

Mutation analysis of the entire mitochondrial genome using denaturing high performance liquid chromatography

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

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%2FS0070-2153%2806%2977005-3

7 January 2021

Mitochondrial Polymorphisms Significantly Reduce the Risk of Parkinson Disease

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

Analysis of European mitochondrial haplogroups with Alzheimer disease risk

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

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%2FS0070-2153%2806%2977005-3

7 January 2021

Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement.

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

Sequence analysis of the entire mitochondrial genome in Parkinson's disease

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

A cluster of metabolic defects caused by mutation in a mitochondrial tRNA.

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

Management of myogenic ptosis

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

Biased incorporation of ribonucleotides on the mitochondrial L-strand accounts for apparent strand-asymmetric DNA replication.

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

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%2FS0070-2153%2806%2977005-3

7 January 2021

SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

Recombination of mitochondrial DNA in skeletal muscle of individuals with multiple mitochondrial DNA heteroplasmy

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

Transcription and replication of animal mitochondrial DNAs.

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

Mechanism of replication of bacteriophage phi X174 XIX. Initiation of phi X174 viral strand DNA synthesis at internal sites on the genome

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

Quantification of mtDNA in single oocytes, polar bodies and subcellular components by real-time rapid cycle fluorescence monitored PCR.

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

10.1016/S0070-2153(06)77005-3

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17222702%20AND%20SRC:MED&resulttype=core&format=json

24 December 2019

1 reference