(Q40898218)

24 September 2017

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title

Treatment of mitochondrial disease (English)

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24 September 2017

2

Chinnery PF

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24 September 2017

Taylor RW

1

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24 September 2017

Clark KM

series ordinal

3

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24 September 2017

Lightowlers RN

series ordinal

4

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24 September 2017

Turnbull DM

series ordinal

5

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24 September 2017

publication date

1 April 1997

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Journal of Bioenergetics and Biomembranes

24 September 2017

published in

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24 September 2017

volume

29

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24 September 2017

issue

2

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24 September 2017

page(s)

195-205

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Coenzyme Q in serum and muscle of 5 patients with Kearns-Sayre syndrome and 12 patients with ophthalmoplegia plus

24 September 2017

cites work

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12 December 2020

31P NMR study of improvement in oxidative phosphorylation by vitamins K3 and C in a patient with a defect in electron transport at complex III in skeletal muscle.

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12 December 2020

Mitochondrial import of a cytoplasmic lysine-tRNA in yeast is mediated by cooperation of cytoplasmic and mitochondrial lysyl-tRNA synthetases

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12 December 2020

Sequence and organization of the human mitochondrial genome

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12 December 2020

Mitochondrial genetics: a paradigm for aging and degenerative diseases?

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12 December 2020

Assembly of functional proton-translocating ATPase complex in yeast mitochondria with cytoplasmically synthesized subunit 8, a polypeptide normally encoded within the organelle

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12 December 2020

Import of proteins into mitochondria. Partial purification of a matrix-located protease involved in cleavage of mitochondrial precursor polypeptides

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12 December 2020

DNA-protein conjugates can enter mitochondria via the protein import pathway.

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12 December 2020

Coenzyme Q10 with multiple vitamins is generally ineffective in treatment of mitochondrial disease

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12 December 2020

MELAS syndrome with mitochondrial tRNA(Leu)(UUR) mutation: correlation of clinical state, nerve conduction, and muscle 31P magnetic resonance spectroscopy during treatment with nicotinamide and riboflavin

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12 December 2020

The treatment of mitochondrial myopathies and encephalomyopathies

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12 December 2020

A new mtDNA mutation showing accumulation with time and restriction to skeletal muscle

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12 December 2020

Treatment of Kearns-Sayre syndrome with coenzyme Q10

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12 December 2020

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

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12 December 2020

Import of RNA into Leishmania mitochondria occurs through direct interaction with membrane-bound receptors

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12 December 2020

Single base pair mutation analysis by PNA directed PCR clamping

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12 December 2020

Mitochondrially-imported cytoplasmic tRNA(Lys)(CUU) of Saccharomyces cerevisiae: in vivo and in vitro targetting systems.

1 reference

12 December 2020

Import of small RNAs into Leishmania mitochondria in vitro

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12 December 2020

Single-stranded-DNA-binding proteins from human mitochondria and Escherichia coli have analogous physicochemical properties.

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12 December 2020

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

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12 December 2020

Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

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12 December 2020

Muscle coenzyme Q deficiency in familial mitochondrial encephalomyopathy

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12 December 2020

A new mitochondrial disease associated with mitochondrial DNA heteroplasmy

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12 December 2020

Marked reduction in CSF lactate and pyruvate levels after CoQ therapy in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS)

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12 December 2020

Phospholipid membrane permeability of peptide nucleic acid

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Subcellular partitioning of MRP RNA assessed by ultrastructural and biochemical analysis

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12 December 2020

Evidence against a mitochondrial location of the 7-2/MRP RNA in mammalian cells

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12 December 2020

A mammalian mitochondrial RNA processing activity contains nucleus-encoded RNA.

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12 December 2020

Distribution and threshold expression of the tRNA(Lys) mutation in skeletal muscle of patients with myoclonic epilepsy and ragged-red fibers (MERRF)

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12 December 2020

Mitochondrial encephalomyopathies: clinical and molecular analysis

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12 December 2020

Sequence-selective recognition of DNA by strand displacement with a thymine-substituted polyamide

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12 December 2020

Fatal metabolic acidosis, hyperglycemia, and coma after steroid therapy for Kearns-Sayre syndrome

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12 December 2020

Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies

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12 December 2020

The basic science of gene therapy

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12 December 2020

Maternal inheritance of human mitochondrial DNA

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12 December 2020

Recurrent respiratory insufficiency and depressed ventilatory drive complicating mitochondrial myopathies

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12 December 2020

Purification and identification of a cytosolic factor required for import of precursors of mitochondrial proteins into mitochondria

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Mitochondrial encephalomyopathy (MELAS): pathological study and successful therapy with coenzyme Q10 and idebenone

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12 December 2020

A tandem duplication in the D-loop of human mitochondrial DNA is associated with deletions in mitochondrial myopathies

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12 December 2020

The amino-terminal region of an imported mitochondrial precursor polypeptide can direct cytoplasmic dihydrofolate reductase into the mitochondrial matrix

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12 December 2020

Long-term coenzyme Q10 therapy for a mitochondrial encephalomyopathy with cytochrome c oxidase deficiency: a 31P NMR study

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12 December 2020

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

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12 December 2020

Ubidecarenone in the treatment of mitochondrial myopathies: a multi-center double-blind trial.

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12 December 2020

Diseases of the mitochondrial DNA.

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12 December 2020

A mitochondrial machinery for membrane translocation of precursor proteins

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12 December 2020

Multisite oligonucleotide-mediated mutagenesis: application to the conversion of a mitochondrial gene to universal genetic code

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12 December 2020

Gene therapy for mitochondrial DNA defects: is it possible?

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12 December 2020

Treatment of complex I deficiency with riboflavin

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12 December 2020

Stability of peptide nucleic acids in human serum and cellular extracts

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12 December 2020

Aging, energy, and oxidative stress in neurodegenerative diseases.

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12 December 2020

MELAS syndrome: Characteristic migrainous and epileptic features and maternal transmission

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12 December 2020

Phosphorus magnetic resonance spectroscopy in the evaluation of mitochondrial myopathies: results of a 6-month therapy study with coenzyme Q.

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12 December 2020

NADH-CoQ reductase deficient myopathy: successful treatment with riboflavin

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12 December 2020

Human cells lacking mtDNA: repopulation with exogenous mitochondria by complementation

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12 December 2020

In vivo import of a normal or mutagenized heterologous transfer RNA into the mitochondria of transgenic plants: towards novel ways of influencing mitochondrial gene expression?

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12 December 2020

Nuclear expression of mitochondrial genes implicated in human encephalomyopathies

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12 December 2020

Mitochondrial encephalomyopathies: what next?

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12 December 2020

1994 William Allan Award Address. Mitochondrial DNA variation in human evolution, degenerative disease, and aging

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12 December 2020

Inhibitory effects of sodium valproate on oxidative phosphorylation

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12 December 2020

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

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12 December 2020

Rearranged mitochondrial genomes are present in human oocytes

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12 December 2020

Nuclear gadgets in mitochondrial DNA replication and transcription

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12 December 2020

Atypical clinical presentations associated with the MELAS mutation at position 3243 of human mitochondrial DNA

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12 December 2020

Targeted vectors for gene therapy.

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12 December 2020

Short-term dichloroacetate treatment improves indices of cerebral metabolism in patients with mitochondrial disorders

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12 December 2020

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

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12 December 2020

PNA hybridizes to complementary oligonucleotides obeying the Watson–Crick hydrogen-bonding rules

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12 December 2020

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

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12 December 2020

CPEO and carnitine deficiency overlapping in MELAS syndrome.

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12 December 2020

The influence of coenzyme Q10 on total serum calcium concentration in two patients with kearns-sayre syndrome and hypoparathyroidism

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12 December 2020

Mitochondrial toxicity of antiviral drugs

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12 December 2020

31P NMR spectroscopy and ergometer exercise test as evidence for muscle oxidative performance improvement with coenzyme Q in mitochondrial myopathies

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12 December 2020

Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees

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12 December 2020

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

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12 December 2020

Inhalation anaesthesia and the Kearns-Sayre syndrome.

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12 December 2020

Identifiers

DOI

10.1023/A:1022646215643

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Dimensions Publication ID

24 September 2017

1050434597

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