Recent developments in the molecular genetics of mitochondrial disorders (Q41725491)

8 October 2017

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title

Recent developments in the molecular genetics of mitochondrial disorders (English)

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8 October 2017

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Graeber MB

1

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PubMed ID

9511882

8 October 2017

Müller U

series ordinal

2

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8 October 2017

1 January 1998

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Journal of the Neurological Sciences

8 October 2017

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8 October 2017

153

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8 October 2017

251-263

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8 October 2017

2

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No evidence for altered muscle mitochondrial function in Parkinson's disease

8 October 2017

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

Age-dependent striatal excitotoxic lesions produced by the endogenous mitochondrial inhibitor malonate

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

Electron transfer complexes I and IV of platelets are abnormal in Parkinson's disease but normal in Parkinson-plus syndromes.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

Lumping or splitting? "Ophthalmoplegia-plus" or Kearns-Sayre syndrome?

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

Leber's hereditary optic neuropathy: heteroplasmy is likely to be significant in the expression of LHON in families with the 3460 ND1 mutation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

A mitochondrial DNA deletion in normally aging and in Alzheimer brain tissue.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

A topoisomerase II cleavage site is associated with a novel mitochondrial DNA deletion

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

Age-dependent vulnerability of the striatum to the mitochondrial toxin 3-nitropropionic acid.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

Chronic mitochondrial energy impairment produces selective striatal degeneration and abnormal choreiform movements in primates

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

Mitochondrial DNA sequence analysis of four Alzheimer's and Parkinson's disease patients.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

Sporadic MERRF/MELAS overlap syndrome associated with the 3243 tRNA(Leu(UUR)) mutation of mitochondrial DNA

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

A case-control study of Leber's hereditary optic neuropathy.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

Sporadic Leber hereditary optic neuropathy in Australia and New Zealand

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

Impairment in mitochondrial cytochrome oxidase gene expression in Alzheimer disease.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

Evidence for physiological down-regulation of brain oxidative phosphorylation in Alzheimer's disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

Ocular clinicopathologic study of the mitochondrial encephalomyopathy overlap syndromes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

Paucity of deleted mitochondrial DNAs in brain regions of Huntington's disease patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

Marked changes in mitochondrial DNA deletion levels in Alzheimer brains

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

Modelling the effects of age-related mtDNA mutation accumulation; complex I deficiency, superoxide and cell death.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

Mitochondrial encephalomyopathy: variable clinical expression within a single kindred

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

Extreme variability of clinical symptoms among sibs in a MELAS family correlated with heteroplasmy for the mitochondrial A3243G mutation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

Myo-leukoencephalopathy in twins: study of 3243-myopathy, encephalopathy, lactic acidosis, and strokelike episodes mitochondrial DNA mutation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

Respiratory chain and mitochondrial DNA in muscle and brain in Parkinson's disease patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

Oxidative stress and antioxidant therapy in Parkinson's disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

Increased risk of dementia in mothers of Alzheimer's disease cases: evidence for maternal inheritance

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

The apolipoprotein E epsilon 4 allele in Parkinson's disease with Alzheimer lesions.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

A specific point mutation in the mitochondrial genome of Caucasians with MELAS

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

The A to G transition at nt 3243 of the mitochondrial tRNALeu(UUR) may cause an MERRF syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

The 3243 MELAS mutation in a pedigree with MERRF.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

Mitochondrial DNA 8993 (NARP) mutation presenting with a heterogeneous phenotype including 'cerebral palsy'.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

Gene expression of ND4, a subunit of complex I of oxidative phosphorylation in mitochondria, is decreased in temporal cortex of brains of Alzheimer's disease patients.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

Altered oxidation and signal transduction systems in fibroblasts from Alzheimer patients.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

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)

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

Mitochondrial defect in Huntington's disease caudate nucleus

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

Low platelet mitochondrial complex I and complex II/III activity in early untreated Parkinson's disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

Accumulation of mtDNA with a mutation at position 3271 in tRNA(Leu)(UUR) gene introduced from a MELAS patient to HeLa cells lacking mtDNA results in progressive inhibition of mitochondrial respiratory function

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

Wolfram (DIDMOAD) syndrome and Leber hereditary optic neuropathy (LHON) are associated with distinct mitochondrial DNA haplotypes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

Marked increase in mitochondrial DNA deletion levels in the cerebral cortex of Huntington's disease patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

A mitochondrial DNA clone is associated with increased risk for Alzheimer disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

Point mutations of mitochondrial genome in Parkinson's disease.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

Unaltered aconitase activity, but decreased complex I activity in substantia nigra pars compacta of patients with Parkinson's disease.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

Investigations on the point mutations at nt 5460 of the mtDNA in different neurodegenerative and neuromuscular diseases

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

Use of transmitochondrial cybrids to assign a complex I defect to the mitochondrial DNA-encoded NADH dehydrogenase subunit 6 gene mutation at nucleotide pair 14459 that causes Leber hereditary optic neuropathy and dystonia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

Mitochondrial DNA polymorphism in substantia nigra.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

Mitochondrial DNA and RNA processing in MELAS.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

Mitochondrial encephalomyopathy with autosomal dominant inheritance: a clinical and genetic entity of mitochondrial diseases

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

Analysis of cybrids harboring MELAS mutations in the mitochondrial tRNA(Leu(UUR)) gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

Accumulation of somatic nucleotide substitutions in mitochondrial DNA associated with the 3243 A-to-G tRNA(leu)(UUR) mutation in encephalomyopathy and cardiomyopathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

No association of mutations at nucleotide 5460 of mitochondrial NADH dehydrogenase with Alzheimer's disease.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

The 'common deletion' is not increased in parkinsonian substantia nigra as shown by competitive polymerase chain reaction.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

Detection of point mutations in codon 331 of mitochondrial NADH dehydrogenase subunit 2 in Alzheimer's brains

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

Absence of the mitochondrial A7237T mutation in Parkinson's disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

Correlation between the clinical symptoms and the proportion of mitochondrial DNA carrying the 8993 point mutation in the NARP syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

A new mutation associated with MELAS is located in a mitochondrial DNA polypeptide-coding gene.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

Quantitation of a mitochondrial DNA deletion in Parkinson's disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

Do sequence variants in the major non-coding region of the mitochondrial genome influence mitochondrial mutations associated with disease?

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

A Caucasian Family with the 3271 Mutation in Mitochondrial DNA

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

Early-onset encephalomyopathy associated with tissue-specific mitochondrial DNA depletion: a morphological, biochemical and molecular-genetic study.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

Effects of isoquinoline derivatives structurally related to 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP) on mitochondrial respiration.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

Altered mitochondrial membrane fluidity in AD brain.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

The significance of glucose turnover in the brain in the pathogenetic mechanisms of Alzheimer's disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

Deficiencies in complex I subunits of the respiratory chain in Parkinson's disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

Phenotype-genotype correlations in skeletal muscle of patients with mtDNA deletions

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

The syndrome of mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes presenting without stroke.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

Abnormal calcium homeostasis and mitochondrial polarization in a human encephalomyopathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

The point mutation of mitochondrial DNA characteristic for MERRF disease is found also in healthy people of different ages

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

Hereditary cerebellar ataxia with Leber's hereditary optic neuropathy mitochondrial DNA 11778 mutation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

Impaired oxidative decarboxylation of pyruvate in fibroblasts from patients with Parkinson's disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

A novel point mutation in the mitochondrial tRNA(Ser(UCN)) gene detected in a family with MERRF/MELAS overlap syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

Leber's hereditary optic neuropathy. New genetic considerations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

Pre-excitation syndrome in Leber's hereditary optic neuropathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

The 3260 mutation in mitochondrial DNA can cause mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS)

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

No evidence for 'skewed' inactivation of the X-chromosome as cause of Leber's hereditary optic neuropathy in female carriers

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

Early retinal involvement in mitochondrial myopathy with mitochondrial DNA deletion

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

The 8,344 mutation in mitochondrial DNA: a comparison between the proportion of mutant DNA and clinico-pathologic findings.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

Quantitative determination of deleted mitochondrial DNA relative to normal DNA in parkinsonian striatum by a kinetic PCR analysis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

Electron transport chain defects in Alzheimer's disease brain.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

Lack of evidence for maternal effect in familial Alzheimer's disease.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

Generalized mitochondrial dysfunction in Parkinson's disease detected by magnetic resonance spectroscopy of muscle

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

Duplications of mitochondrial DNA in mitochondrial myopathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

Are duplications of mitochondrial DNA characteristic of Kearns-Sayre syndrome?

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

Duplications of mitochondrial DNA in Kearns-Sayre syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

Mitochondrial enzyme deficiencies in Down's syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

Analyses of energy metabolism and mitochondrial genome in post-mortem brain from patients with Alzheimer's disease.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

Association of deletion and homoplasmic point mutation of the mitochondrial DNA in an ocular myopathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

7 January 2021

The Alzheimer diseases

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

A model for susceptibility polymorphisms for complex diseases: apolipoprotein E and Alzheimer disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

Demyelinating polyneuropathy in a patient with the tRNA(Leu)(UUR) mutation at base pair 3243 of the mitochondrial DNA.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

Mitochondrial DNA mutations at nucleotide positions 3243 and 3271 in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes: a comparative study

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

Clinical heterogeneity associated with the mitochondrial DNA T8993C point mutation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

mtDNA mutations in Leber's hereditary optic neuropathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

Mitochondrial complex I deficiency in Parkinson's disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

Anatomic and disease specificity of NADH CoQ1 reductase (complex I) deficiency in Parkinson's disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

Evidence for mitochondrial dysfunction in Parkinson's disease--a critical appraisal

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

Oxidative phosphorylation defects and Alzheimer's disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

Mitochondrial encephalomyopathy associated with a single nucleotide pair deletion in the mitochondrial tRNALeu(UUR) gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

Functional alterations in Alzheimer's disease: selective loss of mitochondrial-encoded cytochrome oxidase mRNA in the hippocampal formation.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

Clinical picture of a case of diabetes with mitochondrial tRNA mutation at position 3271.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

Mitochondrial DNA mutations in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS).

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

Uniform tissue distribution of tRNA(Lys) mutation in mitochondrial DNA in MERRF patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

The mitochondrial DNA mutation at 8993 associated with NARP slows the rate of ATP synthesis in isolated lymphoblast mitochondria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

The tRNA(Gln) 4336 mitochondrial DNA variant is not a high penetrance mutation which predisposes to dementia before the age of 75 years.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

Maternally inherited diabetes and deafness is a distinct subtype of diabetes and associates with a single point mutation in the mitochondrial tRNA(Leu(UUR)) gene.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

A MERRF/PEO overlap syndrome associated with the mitochondrial DNA 3243 mutation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

Diseases of the mitochondrial DNA.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

Mitochondrial diseases: genotype versus phenotype

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

No association found between Alzheimer's disease and a mitochondrial tRNA glutamine gene variant.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

Compensatory elevation of complex II activity in Leber's hereditary optic neuropathy.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

The possible role of iron in the etiopathology of Parkinson's disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

A MERRF/MELAS overlap syndrome associated with a new point mutation in the mitochondrial DNA tRNA(Lys) gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

Overlapping syndrome of MERRF and MELAS: molecular and neuroradiological studies.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900295-5

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1016/S0022-510X(97)00295-5

1 reference

8 October 2017

1 reference

PubMed ID

9511882