New treatments for mitochondrial disease-no time to drop our standards (Q37140299)

18 August 2017

New treatments for mitochondrial disease-no time to drop our standards (English)

1 reference

18 August 2017

1 reference

Gerald Pfeffer

1

0 references

Laurence Bindoff

Laurence A Bindoff

9

0 references

Valerio Carelli

Valerio Carelli

12

0 references

Rita Horvath

Rita Horvath

2

0 references

Patrick Yu-Wai-Man

10

Patrick Yu-Wai-Man

1 reference

18 August 2017

17

Patrick F Chinnery

1 reference

18 August 2017

8

Massimo Zeviani

1 reference

18 August 2017

7

Michio Hirano

1 reference

18 August 2017

4

Vamsi K Mootha

1 reference

18 August 2017

13

Robert McFarland

1 reference

18 August 2017

3

Thomas Klopstock

1 reference

18 August 2017

16

Jan Smeitink

1 reference

18 August 2017

14

Kari Majamaa

1 reference

18 August 2017

Douglas Myers-Turnbull

15

Douglas M Turnbull

1 reference

18 August 2017

11

Michael Hanna

1 reference

18 August 2017

Anu Suomalainen

5

1 reference

18 August 2017

Saskia Koene

6

1 reference

18 August 2017

language of work or name

English

0 references

publication date

2 July 2013

1 reference

18 August 2017

Nature Reviews Neurology

1 reference

18 August 2017

9

1 reference

18 August 2017

8

1 reference

18 August 2017

474-481

1 reference

Towards the harmonization of outcome measures in children with mitochondrial disorders

18 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4967498

Unintended effects of orphan product designation for rare neurological diseases.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4967498

EPI-743 reverses the progression of the pediatric mitochondrial disease--genetically defined Leigh Syndrome.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4967498

Treatment for mitochondrial disorders

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4967498

Initial experience in the treatment of inherited mitochondrial disease with EPI-743.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4967498

Targeting mitochondrial dysfunction and neurodegeneration by means of coenzyme Q10 and its analogues

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4967498

A randomized placebo-controlled trial of idebenone in Leber's hereditary optic neuropathy

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4967498

α-Tocotrienol quinone modulates oxidative stress response and the biochemistry of aging

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4967498

The creatine kinase system and pleiotropic effects of creatine

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4967498

A phase 3, double-blind, placebo-controlled trial of idebenone in friedreich ataxia

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4967498

Mitochondrial myopathies: developments in treatment

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4967498

Treatment of mitochondrial electron transport chain disorders: a review of clinical trials over the past decade

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4967498

Antioxidants and other pharmacological treatments for Friedreich ataxia

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4967498

Translation of rare disease research into orphan drug development: disease matters

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4967498

Evaluation of long-term treatment of children with congenital lactic acidosis with dichloroacetate

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4967498

The FDA critical path initiative and its influence on new drug development.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4967498

Neurological effects of high-dose idebenone in patients with Friedreich's ataxia: a randomised, placebo-controlled trial

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4967498

Beneficial effects of creatine, CoQ10, and lipoic acid in mitochondrial disorders

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4967498

Controlled clinical trial of dichloroacetate for treatment of congenital lactic acidosis in children

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4967498

Dichloroacetate causes toxic neuropathy in MELAS: a randomized, controlled clinical trial

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4967498

Chronic treatment of mitochondrial disease patients with dichloroacetate

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4967498

The effect of short-term dimethylglycine treatment on oxygen consumption in cytochrome oxidase deficiency: a double-blind randomized crossover clinical trial.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4967498

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

14 September 2017

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4967498

14 September 2017

https://api.crossref.org/works/10.1038%2FNRNEUROL.2013.129

Assessing the quality of reports of randomized clinical trials: is blinding necessary?

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4967498

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.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4967498

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4967498

The pharmacology of dichloroacetate

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4967498

A placebo-controlled crossover trial of creatine in mitochondrial diseases

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4967498

Function of coenzyme Q in the cell: some biochemical and physiological properties.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4967498

Primary and secondary carnitine deficiency syndromes.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4967498

Effect of EPI-743 on the clinical course of the mitochondrial disease Leber hereditary optic neuropathy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4967498

Creatine has no beneficial effect on skeletal muscle energy metabolism in patients with single mitochondrial DNA deletions: a placebo-controlled, double-blind 31P-MRS crossover study

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4967498

Reversal of a mitochondrial DNA defect in human skeletal muscle.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4967498

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

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4967498

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

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4967498

CPEO and carnitine deficiency overlapping in MELAS syndrome.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4967498

Developing outcome measures for pediatric mitochondrial disorders: which complaints and limitations are most burdensome to patients and their parents?

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4967498

Brain uptake of Tc99m-HMPAO correlates with clinical response to the novel redox modulating agent EPI-743 in patients with mitochondrial disease

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4967498

Ethical considerations in orphan drug approval and use.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4967498

Steroid responsive A3243G mutation MELAS: clinical and radiographic evidence for regional hyperperfusion leading to neuronal loss

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4967498

Functional changes in Duchenne muscular dystrophy: a 12-month longitudinal cohort study.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4967498

A randomized trial of coenzyme Q10 in mitochondrial disorders

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4967498

Oxidative stress biomarkers in mitochondrial myopathies, basally and after cysteine donor supplementation

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4967498

Orphan drug development is not taking off.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4967498

Multi-center trial on the early effects of silodosin on lower urinary tract symptoms associated with benign prostatic hyperplasia

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4967498

Endurance training and detraining in mitochondrial myopathies due to single large-scale mtDNA deletions

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4967498

Aerobic training is safe and improves exercise capacity in patients with mitochondrial myopathy

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4967498

L-arginine improves the symptoms of strokelike episodes in MELAS.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4967498

Dichloroacetate treatment for mitochondrial cytopathy: long-term effects in MELAS.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4967498

Effect of high-dose vitamins, coenzyme Q and high-fat diet in paediatric patients with mitochondrial diseases

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4967498

Dichloroacetate therapy attenuates the blood lactate response to submaximal exercise in patients with defects in mitochondrial energy metabolism

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4967498

Effectiveness of creatine monohydrate in mitochondrial encephalomyopathies

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4967498

Ubiquinone and nicotinamide treatment of patients with the 3243A-->G mtDNA mutation

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4967498

Effects of L-arginine on the acute phase of strokes in three patients with MELAS.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4967498

The effects of coenzyme Q10 treatment on maternally inherited diabetes mellitus and deafness, and mitochondrial DNA 3243 (A to G) mutation

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4967498

Lipoic (thioctic) acid increases brain energy availability and skeletal muscle performance as shown by in vivo 31P-MRS in a patient with mitochondrial cytopathy

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4967498

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

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4967498

Proton MR spectroscopic characterization of differences in regional brain metabolic abnormalities in mitochondrial encephalomyopathies

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4967498

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

20 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4967498

Family and personal history

20 October 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2013.129

Increase of blood NAD+ and attenuation of lactacidemia during nicotinamide treatment of a patient with the MELAS syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2013.129

Correction of increased plasma pyruvate and plasma lactate levels using large doses of thiamine in patients with Kearns-Sayre syndrome

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2013.129

Treatment of complex I deficiency with riboflavin

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2013.129

Exercise training in mitochondrial myopathy: a randomized controlled trial

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2013.129

Plasma carnitine insufficiency and effectiveness of L-carnitine therapy in patients with mitochondrial myopathy

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2013.129

Coenzyme Q10 treatment in mitochondrial encephalomyopathies. Short-term double-blind, crossover study

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2013.129

A randomized, controlled trial of creatine monohydrate in patients with mitochondrial cytopathies

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2013.129

Idebenone in Friedreich ataxia cardiomyopathy-results from a 6-month phase III study (IONIA)

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2013.129

Metabolic interventions against complex I deficiency in MELAS syndrome

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2013.129

10.1038/NRNEUROL.2013.129

31 March 2020

Identifiers

DOI

1 reference

release_7q5uw4ervjeb7mabat5m447c7e

18 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/7q5uw4ervjeb7mabat5m447c7e

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

18 August 2017

PubMed publication ID

23817350

1 reference