(Q26767327)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26951622%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

author name string

Werner Jh Koopman

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26951622%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Julien Beyrath

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26951622%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Cheuk-Wing Fung

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26951622%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Saskia Koene

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26951622%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Peter Hgm Willems

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26951622%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Jan Am Smeitink

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26951622%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

language of work or name

English

0 references

publication date

1 April 2016

3 references

24 March 2019

20 June 2019

19 September 2019

EMBO Molecular Medicine

4 references

24 March 2019

20 June 2019

19 September 2019

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26951622%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

volume

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26951622%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26951622%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

page(s)

311-327

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26951622%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution

1 June 2020

copyright license

3 references

24 March 2019

20 June 2019

19 September 2019

0 references

on focus list of Wikimedia project

ScienceSource

0 references

cites work

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7 April 2017

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A case of severe hypermetabolism of nonthyroid origin with a defect in the maintenance of mitochondrial respiratory control: a correlated clinical, biochemical, and morphological study

7 April 2017

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7 April 2017

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Idebenone and neuroprotection: antioxidant, pro-oxidant, or electron carrier?

7 April 2017

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Emerging concepts in the therapy of mitochondrial disease

7 April 2017

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Mitochondrial structure and function are disrupted by standard isolation methods

7 April 2017

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Topical application of the synthetic triterpenoid RTA 408 activates Nrf2 and induces cytoprotective genes in rat skin

7 April 2017

1 reference

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First-in-class cardiolipin-protective compound as a therapeutic agent to restore mitochondrial bioenergetics

7 April 2017

1 reference

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Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing

7 April 2017

1 reference

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Screening for active small molecules in mitochondrial complex I deficient patient's fibroblasts, reveals AICAR as the most beneficial compound

7 April 2017

1 reference

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NDUFA2 complex I mutation leads to Leigh disease

7 April 2017

1 reference

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Diseases caused by defects of mitochondrial carriers: a review

7 April 2017

1 reference

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

7 April 2017

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

7 April 2017

1 reference

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BOLA1 is an aerobic protein that prevents mitochondrial morphology changes induced by glutathione depletion

7 April 2017

1 reference

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NQO1-dependent redox cycling of idebenone: effects on cellular redox potential and energy levels

7 April 2017

1 reference

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Coupling of phosphorylation to electron and hydrogen transfer by a chemi-osmotic type of mechanism

7 April 2017

1 reference

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Potential compounds for the treatment of mitochondrial disease.

7 April 2017

1 reference

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Leigh syndrome: One disorder, more than 75 monogenic causes

28 September 2017

1 reference

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Targeting mitochondrial complex I using BAY 87-2243 reduces melanoma tumor growth.

28 September 2017

1 reference

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Growth differentiation factor 15 as a useful biomarker for mitochondrial disorders.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4818752

Mitoenergetic Dysfunction Triggers a Rapid Compensatory Increase in Steady-State Glucose Flux.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4818752

Mutations causing mitochondrial disease: What is new and what challenges remain?

28 September 2017

1 reference

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Statin-Induced Myopathy Is Associated with Mitochondrial Complex III Inhibition.

28 September 2017

1 reference

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Dose-dependent effects of mTOR inhibition on weight and mitochondrial disease in mice

28 September 2017

1 reference

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Redox Homeostasis and Mitochondrial Dynamics.

28 September 2017

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A mitochondrial therapeutic reverses visual decline in mouse models of diabetes

28 September 2017

1 reference

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Assembly defects induce oxidative stress in inherited mitochondrial complex I deficiency.

28 September 2017

1 reference

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L-Arginine Affects Aerobic Capacity and Muscle Metabolism in MELAS (Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-Like Episodes) Syndrome

28 September 2017

1 reference

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Serum GDF15 Levels Correlate to Mitochondrial Disease Severity and Myocardial Strain, but Not to Disease Progression in Adult m.3243A>G Carriers.

28 September 2017

1 reference

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Whole exome sequencing and the clinician: we need clinical skills and functional validation in variant filtering

28 September 2017

1 reference

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Measures of survival benefit in cancer drug development and their limitations

28 September 2017

1 reference

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Spectrum of combined respiratory chain defects

28 September 2017

1 reference

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Mutations in NDUFB11, encoding a complex I component of the mitochondrial respiratory chain, cause microphthalmia with linear skin defects syndrome

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4818752

Whole exome sequencing of suspected mitochondrial patients in clinical practice.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4818752

Mitochondrial Diseases Part III: Therapeutic interventions in mouse models of OXPHOS deficiencies

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4818752

Molecular strategies for targeting antioxidants to mitochondria: therapeutic implications.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4818752

Mitochondrial dysfunction in primary human fibroblasts triggers an adaptive cell survival program that requires AMPK-α.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4818752

Mitochondria as a target in the therapeutic properties of curcumin.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4818752

Therapeutic applications of lipoic acid: a patent review (2011 - 2014).

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4818752

PARP inhibition delays progression of mitochondrial encephalopathy in mice.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4818752

NAD(+)-dependent activation of Sirt1 corrects the phenotype in a mouse model of mitochondrial disease

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4818752

Effective treatment of mitochondrial myopathy by nicotinamide riboside, a vitamin B3

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4818752

Mitochondrial channels: ion fluxes and more

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4818752

Diagnosis and molecular basis of mitochondrial respiratory chain disorders: exome sequencing for disease gene identification

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4818752

Disease progression in patients with single, large-scale mitochondrial DNA deletions

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4818752

mTOR inhibition alleviates mitochondrial disease in a mouse model of Leigh syndrome

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4818752

Targeted exome sequencing for mitochondrial disorders reveals high genetic heterogeneity

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4818752

Clinical trials in rare disease: challenges and opportunities

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4818752

Mitochondrial complex I deficiency increases protein acetylation and accelerates heart failure

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4818752

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4818752

Natural history of Barth syndrome: a national cohort study of 22 patients

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4818752

Targeted exome sequencing of suspected mitochondrial disorders

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4818752

Glutathione: a redox signature in monitoring EPI-743 therapy in children with mitochondrial encephalomyopathies

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4818752

Experimental designs for small randomised clinical trials: an algorithm for choice

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4818752

Towards the harmonization of outcome measures in children with mitochondrial disorders

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4818752

Review of clinical trials for mitochondrial disorders: 1997-2012.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4818752

Mitochondrial disorders as windows into an ancient organelle

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4818752

OXPHOS mutations and neurodegeneration

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4818752

Therapeutic roles of curcumin: lessons learned from clinical trials

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4818752

Clinically relevant study end points in rectal cancer

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4818752

Design and implementation of the first randomized controlled trial of coenzyme CoQ₁₀ in children with primary mitochondrial diseases

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4818752

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4818752

Monogenic mitochondrial disorders

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4818752

Metabolic consequences of NDUFS4 gene deletion in immortalized mouse embryonic fibroblasts.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4818752

Isolated mitochondrial complex I deficiency: explorative data analysis of patient cell parameters

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4818752

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4818752

The effects of idebenone on mitochondrial bioenergetics

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4818752

Assembly factors as a new class of disease genes for mitochondrial complex I deficiency: cause, pathology and treatment options

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4818752

Pharmacological targeting of mitochondrial complex I deficiency: the cellular level and beyond.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4818752

In vivo correction of COX deficiency by activation of the AMPK/PGC-1α axis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4818752

Quantitative glucose and ATP sensing in mammalian cells

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4818752

A systematic review of event rates in clinical trials in diabetes mellitus: the importance of quantifying baseline cardiovascular disease history and proteinuria and implications for clinical trial design

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4818752

The triterpenoid 2-cyano-3,12-dioxooleana-1,9-dien-28-oic-acid methyl ester has potent anti-diabetic effects in diet-induced diabetic mice and Lepr(db/db) mice

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4818752

Complex I disorders: causes, mechanisms, and development of treatment strategies at the cellular level.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4818752

Initial experiences with proton MR spectroscopy in treatment monitoring of mitochondrial encephalopathy

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4818752

NON-invasive imaging: Two dimensional speckle tracking echocardiography: basic principles

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4818752

Mitochondrial diseases in childhood: a clinical approach to investigation and management.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4818752

Measuring the rate of progression in Friedreich ataxia: implications for clinical trial design

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4818752

Developing outcome measures for paediatric rheumatic diseases.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4818752

Mammalian mitochondrial complex I: biogenesis, regulation, and reactive oxygen species generation.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4818752

The antioxidant Trolox restores mitochondrial membrane potential and Ca2+ -stimulated ATP production in human complex I deficiency

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4818752

Bioelectrical impedance phase angle in clinical practice: implications for prognosis in stage IIIB and IV non-small cell lung cancer

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4818752

Mitochondrial function and morphology are impaired in parkin-mutant fibroblasts

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4818752

RETRACTED: Activation of the PPAR/PGC-1alpha pathway prevents a bioenergetic deficit and effectively improves a mitochondrial myopathy phenotype

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4818752

Adaptive design methods in clinical trials - a review

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4818752

Mitigation of NADH: ubiquinone oxidoreductase deficiency by chronic Trolox treatment.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4818752

Mice with mitochondrial complex I deficiency develop a fatal encephalomyopathy

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4818752

Improvement of reporter activity by IRES-mediated polycistronic reporter system

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4818752

Mitochondriotropics: a review of their mode of action, and their applications for drug and DNA delivery to mammalian mitochondria

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4818752

Human NADH:ubiquinone oxidoreductase deficiency: radical changes in mitochondrial morphology?

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4818752

Cardiac and clinical phenotype in Barth syndrome

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4818752

28 September 2017

Bayesian clinical trials

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4818752

Cell biological consequences of mitochondrial NADH: ubiquinone oxidoreductase deficiency

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4818752

Mitochondrial disorders: clinical presentation and diagnostic dilemmas

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4818752

Making better drugs: Decision gates in non-clinical drug development

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4818752

Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4818752

OMERACT conference on outcome measures in rheumatoid arthritis clinical trials: introduction

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4818752

An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4818752

Quantifying small molecule phenotypic effects using mitochondrial morpho-functional fingerprinting and machine learning.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4818752

Trolox-sensitive reactive oxygen species regulate mitochondrial morphology, oxidative phosphorylation and cytosolic calcium handling in healthy cells.

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4818752

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

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4818752

Depletion of PINK1 affects mitochondrial metabolism, calcium homeostasis and energy maintenance

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4818752

Secondary mitochondrial dysfunction in propionic aciduria: a pathogenic role for endogenous mitochondrial toxins.

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4818752

Mitochondrial disorders: a proposal for consensus diagnostic criteria in infants and children

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4818752

Complex I and complex III inhibition specifically increase cytosolic hydrogen peroxide levels without inducing oxidative stress in HEK293 cells

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4818752

Mutations in COA3 cause isolated complex IV deficiency associated with neuropathy, exercise intolerance, obesity, and short stature.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4818752

Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4818752

Mitochondrial hyperpolarization during chronic complex I inhibition is sustained by low activity of complex II, III, IV and V.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4818752

A complex V ATP5A1 defect causes fatal neonatal mitochondrial encephalopathy

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4818752

CEP89 is required for mitochondrial metabolism and neuronal function in man and fly.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4818752

Primary fibroblasts of NDUFS4(-/-) mice display increased ROS levels and aberrant mitochondrial morphology

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4818752

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

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4818752

A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4818752

Test-retest reliability of the 6-minute walk test in individuals with Down syndrome.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4818752

FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4818752

A randomized trial of coenzyme Q10 in mitochondrial disorders

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4818752

Genotype and phenotype analyses in 136 patients with single large-scale mitochondrial DNA deletions.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4818752

Mitochondrial and cytosolic thiol redox state are not detectably altered in isolated human NADH:ubiquinone oxidoreductase deficiency.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4818752

Superoxide production is inversely related to complex I activity in inherited complex I deficiency.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4818752

Mitochondrial network complexity and pathological decrease in complex I activity are tightly correlated in isolated human complex I deficiency.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4818752

Diagnostic criteria for respiratory chain disorders in adults and children.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4818752

A SIMPLE FIELD TEST FOR THE ASSESSMENT OF PHYSICAL FITNESS. REP 63-6

28 November 2018

1 reference

12 December 2020

Restoration of complex V deficiency caused by a novel deletion in the human TMEM70 gene normalizes mitochondrial morphology

1 reference

12 December 2020

Effect of bezafibrate treatment on late-onset mitochondrial myopathy in mice

1 reference

12 December 2020

A catalytic defect in mitochondrial respiratory chain complex I due to a mutation in NDUFS2 in a patient with Leigh syndrome

1 reference

12 December 2020

MICS-1 interacts with mitochondrial ATAD-3 and modulates lifespan in C. elegans

1 reference

12 December 2020

Halitosis in cystinosis patients after administration of immediate-release cysteamine bitartrate compared to delayed-release cysteamine bitartrate

1 reference

12 December 2020

The Barth Syndrome Registry: Distinguishing disease characteristics and growth data from a longitudinal study

1 reference

12 December 2020

1 reference

12 December 2020

Beyond the gowers sign: measuring outcomes in Duchenne muscular dystrophy

1 reference

12 December 2020

Serum FGF21 levels in adult m.3243A>G carriers: Clinical implications

1 reference

12 December 2020

Detection of mutations in LRPAP1, CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2 in 298 families with early-onset high myopia by exome sequencing

1 reference

12 December 2020

Assisted 6-minute cycling test: An exploratory study in children

1 reference

12 December 2020

Identifiers

DOI

10.15252/EMMM.201506131

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26951622%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26951622%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

PubMed publication ID

26951622

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26951622%20AND%20SRC:MED&resulttype=core&format=json