(Q77403432)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9770297%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

review article

1 reference

title

Human mitochondrial diseases: answering questions and questioning answers (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9770297%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

author name string

N Howell

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9770297%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

publication date

1 January 1999

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9770297%20AND%20SRC:MED&resulttype=core&format=json

International Review of Cytology

5 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9770297%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

volume

186

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9770297%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

page(s)

49-116

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9770297%20AND%20SRC:MED&resulttype=core&format=json

Energy metabolism of rabbit retina as related to function: high cost of Na+ transport

5 December 2019

cites work

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7 January 2021

Sequence and organization of the human mitochondrial genome

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7 January 2021

Misconceptions about mitochondria and mammalian fertilization: implications for theories on human evolution

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7 January 2021

Rapid segregation of heteroplasmic bovine mitochondria

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7 January 2021

Complementation and segregation behavior of disease-causing mitochondrial DNA mutations in cellular model systems

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7 January 2021

Defective brain and muscle energy metabolism shown by in vivo 31P magnetic resonance spectroscopy in nonaffected carriers of 11778 mtDNA mutation

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7 January 2021

Aging, energy, and oxidative stress in neurodegenerative diseases.

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7 January 2021

Relationship of genotype to phenotype in fibroblast-derived transmitochondrial cell lines carrying the 3243 mutation associated with the MELAS encephalomyopathy: shift towards mutant genotype and role of mtDNA copy number

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7 January 2021

Axotomy results in delayed death and apoptosis of retinal ganglion cells in adult rats.

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7 January 2021

Uniparental inheritance of mitochondrial and chloroplast genes: mechanisms and evolution

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7 January 2021

Leber's hereditary optic neuropathy: implications of the sex ratio for linkage studies in families with the 3460 ND1 mutation.

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7 January 2021

Skewed segregation of the mtDNA nt 8993 (T-->G) mutation in human oocytes

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7 January 2021

The amyloid beta protein induces oxidative damage of mitochondrial DNA.

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7 January 2021

Phylogenetic analysis of Leber's hereditary optic neuropathy mitochondrial DNA's indicates multiple independent occurrences of the common mutations

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7 January 2021

Mitochondrial DNA sequences of primates: Tempo and mode of evolution

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7 January 2021

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

1 reference

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7 January 2021

Optic disk risk factors for nonarteritic anterior ischemic optic neuropathy.

1 reference

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7 January 2021

Bilateral striatal necrosis and MELAS associated with a new T3308C mutation in the mitochondrial ND1 gene

1 reference

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7 January 2021

Mitochondrial DNA and human evolution

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7 January 2021

Leber's hereditary optic neuropathy: biochemical effect of 11778/ND4 and 3460/ND1 mutations and correlation with the mitochondrial genotype.

1 reference

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7 January 2021

Leber’s Hereditary Optic Neuroretinopathy and the X-Chromosomal Susceptibility Factor: No Linkage to DXS7

1 reference

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7 January 2021

A mitochondrial DNA tRNA(Val) point mutation associated with adult-onset Leigh syndrome.

1 reference

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7 January 2021

Clinical features, investigation, and management of patients with defects of mitochondrial DNA.

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

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%2FS0074-7696%2808%2961051-7

7 January 2021

A novel mitochondrial tRNA isoleucine gene mutation causing chronic progressive external ophthalmoplegia

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Reversal of a mitochondrial DNA defect in human skeletal muscle.

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Optic neuritis with prolonged use of chloramphenicol. Case report and relationship to fundus changes in cystic fibrosis

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Respiratory chain function in Leber's hereditary optic neuropathy: lack of correlation with clinical disease

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Clinical and brain bioenergetics improvement with idebenone in a patient with Leber's hereditary optic neuropathy: a clinical and 31P-MRS study

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

An oxidative damage-specific endonuclease from rat liver mitochondria.

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

At least two mechanisms are involved in the death of retinal ganglion cells following target ablation in neonatal rats

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Leber's hereditary optic neuropathy masquerading as tobacco-alcohol amblyopia

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Threshold effects in synaptosomal and nonsynaptic mitochondria from hippocampal CA1 and paramedian neocortex brain regions.

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

In situ localization of mitochondrial DNA replication in intact mammalian cells

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Mutations in mitochondrial cytochrome c oxidase genes segregate with late-onset Alzheimer disease

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Functional alterations of the mitochondrially encoded ND4 subunit associated with Leber's hereditary optic neuropathy.

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

A near homoplasmic T8993G mtDNA mutation in a patient with atypic Leigh syndrome not present in the mother's tissues.

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Greater sensitivity of larger retinal ganglion cells to NMDA-mediated cell death

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Elevated glutamate levels in the vitreous body of humans and monkeys with glaucoma

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7 January 2021

Mapping frequencies of endogenous oxidative damage and the kinetic response to oxidative stress in a region of rat mtDNA.

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7 January 2021

Different cellular backgrounds confer a marked advantage to either mutant or wild-type mitochondrial genomes.

1 reference

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7 January 2021

Complex I deficiency is associated with 3243G:C mitochondrial DNA in osteosarcoma cell cybrids

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Mouse zygotes injected with mitochondria develop normally but the exogenous mitochondria are not detectable in the progeny

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

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

1 reference

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7 January 2021

Axonal transport blockade in the neonatal rat optic nerve induces limited retinal ganglion cell death.

1 reference

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7 January 2021

Mechanisms of optic nerve damage in primary open angle glaucoma

1 reference

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7 January 2021

Association of the 11778 mitochondrial DNA mutation and demyelinating disease

1 reference

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7 January 2021

Pathophysiology of the MELAS 3243 transition mutation

1 reference

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7 January 2021

A novel heteroplasmic tRNAleu(CUN) mtDNA point mutation in a sporadic patient with mitochondrial encephalomyopathy segregates rapidly in skeletal muscle and suggests an approach to therapy.

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

An intrinsic time limit between genesis and death of individual neurons in the developing retinal ganglion cell layer

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Adult-onset MELAS. Evidence for involvement of neurons as well as cerebral vasculature in strokelike episodes.

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

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%2FS0074-7696%2808%2961051-7

7 January 2021

Blockade of glutamate receptors unmasks neuronal apoptosis after oxygen-glucose deprivation in vitro

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Paternal inheritance of mitochondrial DNA in mice

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Developmentally regulated mitochondrial fusion mediated by a conserved, novel, predicted GTPase.

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Functional and molecular mitochondrial abnormalities associated with a C --> T transition at position 3256 of the human mitochondrial genome. The effects of a pathogenic mitochondrial tRNA point mutation in organelle translation and RNA processing

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

A disease-associated G5703A mutation in human mitochondrial DNA causes a conformational change and a marked decrease in steady-state levels of mitochondrial tRNA(Asn).

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Mitochondrial DNA polymorphism in a maternal lineage of Holstein cows

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Human mitochondria and mitochondrial genome function as a single dynamic cellular unit

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Maternal inheritance of the mouse mitochondrial genome is not mediated by a loss or gross alteration of the paternal mitochondrial DNA or by methylation of the oocyte mitochondrial DNA

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

The yeast gene, MDM20, is necessary for mitochondrial inheritance and organization of the actin cytoskeleton

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Apparent mtDNA heteroplasmy in Alzheimer's disease patients and in normals due to PCR amplification of nucleus-embedded mtDNA pseudogenes

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Fate of sperm tail components after incorporation into the hamster egg

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Respiration and growth defects in transmitochondrial cell lines carrying the 11778 mutation associated with Leber's hereditary optic neuropathy

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Disease relevance of the so-called secondary Leber hereditary optic neuropathy mutations

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Evidence of constriction of optic nerve axons at the lamina cribrosa in the normotensive eye in humans and other mammals

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Inheritance and expression of mitochondrial DNA point mutations

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Behaviour of a population of partially duplicated mitochondrial DNA molecules in cell culture: segregation, maintenance and recombination dependent upon nuclear background

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

mtDNA recombination: what do in vitro data mean?

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Leber hereditary optic neuropathy: mitochondrial mutations and degeneration of the optic nerve

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Leber hereditary optic neuropathy: how do mitochondrial DNA mutations cause degeneration of the optic nerve?

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Origin, transmission, and segregation of mitochondrial DNA dimers in mouse hybrid and cybrid cell lines

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Mitochondrial gene segregation in mammals: is the bottleneck always narrow?

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Association of the mitochondrial 8344 MERRF mutation with maternally inherited spinocerebellar degeneration and Leigh disease

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

mtDNA mutations that cause optic neuropathy: how do we know?

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Visual recovery in a patient with Leber hereditary optic neuropathy and the 14484 mutation

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Random mitotic segregation of mitochondrial DNA in MELAS syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Visual disturbances in cystic fibrosis following chloramphenicol administration

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Point mutations of mitochondrial genome in Parkinson's disease

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Sequences attaching loops of nuclear and mitochondrial DNA to underlying structures in human cells: the role of transcription units

1 reference

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7 January 2021

Leber's hereditary optic neuropathy with the 11 778 mtDNA mutation and white matter disease resembling multiple sclerosis: clinical, MRI and MRS findings.

1 reference

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7 January 2021

Random genetic drift in the female germline explains the rapid segregation of mammalian mitochondrial DNA.

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Seminars in medicine of the Beth Israel Hospital, Boston. Mitochondrial DNA and disease

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Tissue distribution of the ND4/11778 mutation in heteroplasmic lineages with Leber hereditary optic neuropathy

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

The histochemical localization of cytochrome oxidase in the retina and lateral geniculate nucleus of the ferret, cat, and monkey, with particular reference to retinal mosaics and ON/OFF-center visual channels

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Elimination of paternal mitochondrial DNA in intraspecific crosses during early mouse embryogenesis

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Mitochondrial myopathy with progressive decrease in mitochondrial tRNA(Leu)(UUR) mutant genomes

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

A new mitochondrial DNA mutation associated with mitochondrial myopathy: tRNA(Leu)(UUR) 3254C-to-G.

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Study of regulation of mitochondrial respiration in vivo

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Mitochondrial manganese superoxide dismutase prevents neural apoptosis and reduces ischemic brain injury: suppression of peroxynitrite production, lipid peroxidation, and mitochondrial dysfunction.

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

TUNEL-positive ganglion cells in human primary open-angle glaucoma.

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Leber hereditary optic neuropathy. Electron microscopy and molecular genetic analysis of a case

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Mitochondrial mutational spectra in human cells and tissues

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Mitochondrial reticulum in limb skeletal muscle

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

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%2FS0074-7696%2808%2961051-7

7 January 2021

Neandertal DNA sequences and the origin of modern humans

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Molecular and cellular mechanisms of mitochondrial nuclear division and mitochondriokinesis

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Molecular genetic aspects of human mitochondrial disorders

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Leber's hereditary optic neuropathy and complex I deficiency in muscle

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Apoptosis of retinal ganglion cells in anterior ischemic optic neuropathy

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Cytochrome c and dATP-dependent formation of Apaf-1/caspase-9 complex initiates an apoptotic protease cascade

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Mammalian mitochondrial genetics: heredity, heteroplasmy and disease

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Quantitative allele-specific PCR: demonstration of age-associated accumulation in human tissues of the A-->G mutation at nucleotide 3243 in mitochondrial DNA

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Chloramphenicol for long-term therapy of cystic fibrosis

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

A role for recombination junctions in the segregation of mitochondrial DNA in yeast

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

In vivo skeletal muscle mitochondrial function in Leber's hereditary optic neuropathy assessed by31P magnetic resonance spectroscopy

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Mitochondrial Eve: the plot thickens

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Excitotoxicity, energy metabolism and neurodegeneration

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Mutation accumulation in nuclear, organelle, and prokaryotic transfer RNA genes

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

mtDNA mutation rates--no need to panic

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Blindness in offspring of women blinded by Leber's hereditary optic neuropathy

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Leber hereditary optic neuropathy in Australia

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

1 reference

7 January 2021

Reply to Hofmann et al.

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

The common MELAS mutation A3243G in mitochondrial DNA among young patients with an occipital brain infarct

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Electron transfer properties of NADH:ubiquinone reductase in the ND1/3460 and the ND4/11778 mutations of the Leber hereditary optic neuroretinopathy (LHON)

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Catalytic activity of complex I in cell lines that possess replacement mutations in the ND genes in Leber's hereditary optic neuropathy

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

The fate of human sperm-derived mtDNA in somatic cells

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https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Association of myopathy with large-scale mitochondrial DNA duplications and deletions: which is pathogenic?

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Genotype to phenotype correlations in mitochondrial encephalomyopathies associated with the A3243G mutation of mitochondrial DNA

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Comparison of the relative levels of the 3243 (A-->G) mtDNA mutation in heteroplasmic adult and fetal tissues

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Intracellular heteroplasmy for disease-associated point mutations in mtDNA: implications for disease expression and evidence for mitotic segregation of heteroplasmic units of mtDNA.

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Distribution of axonal and glial elements in the rhesus optic nerve head studied by electron microscopy

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Abnormal lactate after effort in healthy carriers of Leber's hereditary optic neuropathy

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Mitochondrial DNA. I. Intramitochondrial distribution and structural relations of single- and double-length circular DNA

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Maternally inherited diabetes and deafness: prevalence in a hospital diabetic population

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Epidemic neuropathy in Cuba not associated with mitochondrial DNA mutations found in Leber's hereditary optic neuropathy patients. Cuba Neuropathy Field Investigation Team

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Analysis of mitochondrial DNA nucleoids in wild-type and a mutant strain of Saccharomyces cerevisiae that lacks the mitochondrial HMG box protein Abf2p

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Leber's hereditary optic neuroretinopathy, a maternally inherited disease. A genealogic study in four pedigrees

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Leber's "plus": neurological abnormalities in patients with Leber's hereditary optic neuropathy

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Ophthalmologic findings in Leber hereditary optic neuropathy, with special reference to mtDNA mutations

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

A quantitative analysis of mitochondria during fetal mouse oogenesis

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Mitochondrial transmission during mating in Saccharomyces cerevisiae is determined by mitochondrial fusion and fission and the intramitochondrial segregation of mitochondrial DNA

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Local Supply of Energy to the Fast Axoplasmic Transport Mechanism

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Leber's hereditary optic neuropathy: correlations between mitochondrial genotype and visual outcome.

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

The mitochondrial DNA mutation ND6*14,484C associated with leber hereditary optic neuropathy, leads to deficiency of complex I of the respiratory chain

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

On the many faces of Leber hereditary optic neuropathy.

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Mechanisms of cell death induced by the mitochondrial toxin 3-nitropropionic acid: acute excitotoxic necrosis and delayed apoptosis.

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

A defect in mitochondrial electron-transport activity (NADH-coenzyme Q oxidoreductase) in Leber's hereditary optic neuropathy.

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

A high observed substitution rate in the human mitochondrial DNA control region

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

X-inactivation patterns in female Leber's hereditary optic neuropathy patients do not support a strong X-linked determinant

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Rethinking cell structure

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Extremely high levels of mutant mtDNAs co-localize with cytochrome c oxidase-negative ragged-red fibers in patients harboring a point mutation at nt 3243

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Number of mitochondria and some properties of mitochondrial DNA in the mouse egg

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Amounts of mitochondrial DNA and abundance of some mitochondrial gene transcripts in early mouse embryos

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Confirmation that neither cyanide intoxication nor mutations commonly associated with Leber's Hereditary Optic Neuropathy are implicated in Tanzanian Epidemic Optic Neuropathy

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Noninvasive diagnosis of the MELAS syndrome from blood DNA

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Families of mtDNA re-arrangements can be detected in patients with mtDNA deletions: duplications may be a transient intermediate form.

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Ganglion cell death in glaucoma: pathology recapitulates ontogeny

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Chronic human glaucoma causing selectively greater loss of large optic nerve fibers

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Apoptotic cell death induced by optic nerve lesion in the neonatal rat.

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Anatomy of the lamina cribrosa in human eyes

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Electrophysiological exploration of visual function in mitochondrial diseases

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Adenosine triphosphate deficiency: a genre of optic neuropathy

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Retinal ischemia leads to apoptosis which is ameliorated by aurintricarboxylic acid

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

The effect of ionic conditions on the conformations of supercoiled DNA. II. Equilibrium catenation

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Heterogeneous clinical presentation of the mtDNA NARP/T8993G mutation

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS.

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Organization of multiple nucleoids and DNA molecules in mitochondria of a human cell

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

The nerve of glaucoma!

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

On the voltage dependence of the mitochondrial permeability transition pore. A critical appraisal.

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Leigh syndrome resulting from de novo mutation at position 8993 of mitochondrial DNA

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Mitochondrial DNA maintenance in vertebrates

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Fate of sperm organelles during early embryogenesis in the rat

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

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%2FS0074-7696%2808%2961051-7

7 January 2021

Mitochondrial DNA variants observed in Alzheimer disease and Parkinson disease patients.

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Mitochondrial DNA diseases: histological and cellular studies

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Heteroplasmy in Leber's hereditary optic neuropathy

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Platelet mitochondrial function in Leber's hereditary optic neuropathy

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Neuropathology of mitochondrial encephalomyopathies due to mitochondrial DNA defects.

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Myoclonic epilepsy with ragged-red fibers (MERRF): an immunohistochemical study of the brain

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Preferential amplification and phenotypic selection in a population of deleted and wild-type mitochondrial DNA in cultured cells

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Molecular basis of glutamate toxicity in retinal ganglion cells.

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Pigmentary retinopathy associated with the mitochondrial DNA 3243 point mutation

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Fate of the sperm mitochondria, and the incorporation, conversion, and disassembly of the sperm tail structures during bovine fertilization.

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Is all nondefinable optic atrophy Leber's hereditary optic neuropathy?

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

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%2FS0074-7696%2808%2961051-7

7 January 2021

Cybrids in Alzheimer's disease: a cellular model of the disease?

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

The interorganellar interaction between distinct human mitochondria with deletion mutant mtDNA from a patient with mitochondrial disease and with HeLa mtDNA

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Treatment of mitochondrial disease

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

The "Eve" Hypotheses: A Genetic Critique and Reanalysis

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Heteroplasmy levels of a mitochondrial gene mutation associated with diabetes mellitus decrease in leucocyte DNA upon aging

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Mammalian mitochondria possess homologous DNA recombination activity

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Cytochemical evidence of an organized microtubular cytoskeleton inXenopus laevis oocytes: Involvement in the segregation of mitochondrial populations

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

De novo mutation in the mitochondrial ATP synthase subunit 6 gene (T8993G) with rapid segregation resulting in Leigh syndrome in the offspring

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Maternally inherited diabetes and deafness (MIDD): A distinct subtype of diabetes associated with a mitochondrial tRNALeu(UUR) gene point mutation

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Bcl-xL regulates the membrane potential and volume homeostasis of mitochondria

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

LEBER'S DISEASE IN THE NETHERLANDS.

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Distinct genomic copy number in mitochondria of different mammalian organs.

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

MtDNA mutations associated with Leber's hereditary optic neuropathy: studies on cytoplasmic hybrid (cybrid) cells.

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

In vivo control of respiration by cytochrome c oxidase in wild-type and mitochondrial DNA mutation-carrying human cells

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Evidence for preserved direct pupillary light response in Leber's hereditary optic neuropathy

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

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%2FS0074-7696%2808%2961051-7

7 January 2021

Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Ancient mtDNA sequences in the human nuclear genome: a potential source of errors in identifying pathogenic mutations

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Atypical Leber's hereditary optic neuropathy with molecular confirmation.

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Leber's hereditary optic atrophy: some clinical and aetiological considerations.

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Respiratory deficiency due to loss of mitochondrial DNA in yeast lacking the frataxin homologue

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Mutation analysis of the ND6 gene in patients with Lebers hereditary optic neuropathy

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

mtDNA mutations confer cellular sensitivity to oxidant stress that is partially rescued by calcium depletion and cyclosporin A.

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Cytochrome oxidase in Alzheimer's disease: biochemical, histochemical, and immunohistochemical analyses of the visual and other systems

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Comparison of Ganglion Cell Loss and Cone Loss in Experimental Glaucoma

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Prevention of apoptosis by Bcl-2: release of cytochrome c from mitochondria blocked

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Among-site rate variation and its impact on phylogenetic analyses

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Marked replicative advantage of human mtDNA carrying a point mutation that causes the MELAS encephalomyopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Complementation of mutant and wild-type human mitochondrial DNAs coexisting since the mutation event and lack of complementation of DNAs introduced separately into a cell within distinct organelles

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Myoclonic epilepsy and ragged red fibers (MERRF) syndrome: selective vulnerability of CNS neurons does not correlate with the level of mitochondrial tRNAlys mutation in individual neuronal isolates.

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

7 January 2021

Tissue-specific selection for different mtDNA genotypes in heteroplasmic mice

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7696%2808%2961051-7

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%2FS0074-7696%2808%2961051-7

7 January 2021

10.1016/S0074-7696(08)61051-7

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9770297%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

1 reference