Epidemiology and treatment of mitochondrial disorders (Q34386766)

1 August 2017

1 reference

title

Epidemiology and treatment of mitochondrial disorders (English)

1 reference

1 August 2017

1 reference

Chinnery PF

1 reference

1 August 2017

Turnbull DM

1 reference

1 August 2017

publication date

1 January 2001

1 reference

American Journal of Medical Genetics Part A

1 August 2017

published in

1 reference

1 August 2017

volume

106

1 reference

1 August 2017

1 reference

1 August 2017

page(s)

94-101

1 reference

Ischemic stroke in adults younger than 30 years of age. Cause and prognosis

1 August 2017

cites work

1 reference

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

21 January 2018

1 reference

Peptide nucleic acid delivery to human mitochondria

21 January 2018

1 reference

The spectrum of hearing loss due to mitochondrial DNA defects

21 January 2018

1 reference

Reversal of a mitochondrial DNA defect in human skeletal muscle.

21 January 2018

1 reference

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

21 January 2018

1 reference

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.

21 January 2018

1 reference

Population frequencies of inherited neuromuscular diseases—A world survey

21 January 2018

1 reference

Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosides

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Melas: an original case and clinical criteria for diagnosis

21 January 2018

1 reference

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

21 January 2018

1 reference

A subtype of diabetes mellitus associated with a mutation of mitochondrial DNA.

21 January 2018

1 reference

Role of adenine nucleotide translocator 1 in mtDNA maintenance

21 January 2018

1 reference

Therapy of complex I deficiency: peripheral neuropathy during dichloroacetate therapy

21 January 2018

1 reference

Mitochondrial respiratory chain disorders I: mitochondrial DNA defects

21 January 2018

1 reference

Pedigree analysis of French Canadian families with T14484C Leber's hereditary optic neuropathy

21 January 2018

1 reference

Predominance of the T14484C mutation in French-Canadian families with Leber hereditary optic neuropathy is due to a founder effect

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Oligomycin induces a decrease in the cellular content of a pathogenic mutation in the human mitochondrial ATPase 6 gene.

21 January 2018

1 reference

Remission of Leber's hereditary optic neuropathy with idebenone

21 January 2018

1 reference

Do idebenone and vitamin therapy shorten the time to achieve visual recovery in Leber hereditary optic neuropathy?

21 January 2018

1 reference

Deficiency of respiratory chain complex I is a common cause of Leigh disease.

21 January 2018

1 reference

The epidemiology of Huntington's disease in Northern Ireland

21 January 2018

1 reference

Respiratory chain complex III [correction of complex] in deficiency with pruritus: a novel vitamin responsive clinical feature

21 January 2018

1 reference

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

21 January 2018

1 reference

Muscle coenzyme Q deficiency in familial mitochondrial encephalomyopathy

21 January 2018

1 reference

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

21 January 2018

1 reference

Mitochondrial genetics '98 is the bottleneck cracked?

21 January 2018

1 reference

Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q10 deficiency

21 January 2018

1 reference

Mitochondrial DNA mutations and pathogenesis

21 January 2018

1 reference

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

21 January 2018

1 reference

Spontaneous Kearns-Sayre/chronic external ophthalmoplegia plus syndrome associated with a mitochondrial DNA deletion: a slip-replication model and metabolic therapy

21 January 2018

1 reference

Gene shifting: a novel therapy for mitochondrial myopathy.

21 January 2018

1 reference

Creatine monohydrate increases strength in patients with neuromuscular disease.

21 January 2018

1 reference

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

21 January 2018

1 reference

In-vitro genetic modification of mitochondrial function

21 January 2018

1 reference

Incidence and prevalence of ALS in Ireland, 1995-1997: a population-based study

21 January 2018

1 reference

Mitochondrial diseases in man and mouse

21 January 2018

1 reference

Mitochondrial DNA mutations at nucleotide 8993 show a lack of tissue- or age-related variation

21 January 2018

1 reference

Mutation in the mitochondrial tRNA(leu) at position 3243 and spontaneous abortions in Japanese women attending a clinic for diabetic pregnancies.

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1002/AJMG.1426

1 reference

1 August 2017

1 reference