(Q37774749)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20650404%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

review article

1 reference

title

A neurological perspective on mitochondrial disease (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20650404%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20650404%20AND%20SRC:MED&resulttype=core&format=json

Douglass Matthew Turnbull

8 February 2020

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20650404%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

Robert William Taylor

series ordinal

2

object named as

Robert W Taylor

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20650404%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

publication date

1 August 2010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20650404%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20650404%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

volume

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20650404%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

issue

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20650404%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

page(s)

829-840

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20650404%20AND%20SRC:MED&resulttype=core&format=json

Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies

8 February 2020

cites work

1 reference

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7 January 2021

Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

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7 January 2021

The neurology of mitochondrial DNA disease.

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7 January 2021

Mitochondria, calcium and cell death: a deadly triad in neurodegeneration

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7 January 2021

Review: Mitochondria and disease progression in multiple sclerosis

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7 January 2021

Mitochondrial dysfunction in the limelight of Parkinson's disease pathogenesis

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7 January 2021

Mitochondrial dysfunction and oxidative stress in neurodegenerative diseases

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7 January 2021

Supramolecular organization of ATP synthase and respiratory chain in mitochondrial membranes

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7 January 2021

Genetic and evolutionary consequences of symbiosis

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7 January 2021

Mitochondrial DNA mutations and human disease

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7 January 2021

Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes.

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7 January 2021

Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation

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7 January 2021

A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy.

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7 January 2021

A functionally dominant mitochondrial DNA mutation

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7 January 2021

Inherited mitochondrial diseases of DNA replication

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7 January 2021

Pathogenic mitochondrial DNA mutations are common in the general population

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7 January 2021

Population prevalence of the MELAS A3243G mutation.

1 reference

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7 January 2021

Prevalence of Mitochondrial 1555A→G Mutation in European Children

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7 January 2021

Prevalence of mitochondrial DNA disease in adults

1 reference

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7 January 2021

Assigning pathogenicity to mitochondrial tRNA mutations: when "definitely maybe" is not good enough

1 reference

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7 January 2021

The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy

1 reference

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7 January 2021

Is the mitochondrial complex I ND5 gene a hot-spot for MELAS causing mutations?

1 reference

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7 January 2021

De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency

1 reference

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7 January 2021

Mutations of the mitochondrial ND1 gene as a cause of MELAS.

1 reference

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7 January 2021

A reduction of mitochondrial DNA molecules during embryogenesis explains the rapid segregation of genotypes

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970116-2

7 January 2021

The mitochondrial DNA genetic bottleneck results from replication of a subpopulation of genomes

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970116-2

7 January 2021

Strong purifying selection in transmission of mammalian mitochondrial DNA

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970116-2

7 January 2021

The first nuclear-encoded complex I mutation in a patient with Leigh syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970116-2

7 January 2021

Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970116-2

7 January 2021

Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970116-2

7 January 2021

Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970116-2

7 January 2021

Demonstration of a new pathogenic mutation in human complex I deficiency: a 5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunit

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970116-2

7 January 2021

Late-onset Leigh syndrome in a patient with mitochondrial complex I NDUFS8 mutations

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970116-2

7 January 2021

Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970116-2

7 January 2021

Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970116-2

7 January 2021

Germline SDHD mutation in familial phaeochromocytoma

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970116-2

7 January 2021

Mutations in SDHC cause autosomal dominant paraganglioma, type 3.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970116-2

7 January 2021

A deletion in the human QP-C gene causes a complex III deficiency resulting in hypoglycaemia and lactic acidosis

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970116-2

7 January 2021

Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970116-2

7 January 2021

A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970116-2

7 January 2021

Human CIA30 is involved in the early assembly of mitochondrial complex I and mutations in its gene cause disease

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970116-2

7 January 2021

Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease

1 reference

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7 January 2021

Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease

1 reference

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7 January 2021

C6ORF66 is an assembly factor of mitochondrial complex I

1 reference

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7 January 2021

SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970116-2

7 January 2021

A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure.

1 reference

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7 January 2021

GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L

1 reference

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7 January 2021

Clinical and biochemical spectrum of mitochondrial complex III deficiency caused by mutations in theBCS1Lgene

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970116-2

7 January 2021

SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970116-2

7 January 2021

Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency

1 reference

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7 January 2021

Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene

1 reference

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7 January 2021

Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970116-2

7 January 2021

Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970116-2

7 January 2021

FASTKD2 nonsense mutation in an infantile mitochondrial encephalomyopathy associated with cytochrome c oxidase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970116-2

7 January 2021

A new leukoencephalopathy with brainstem and spinal cord involvement and high lactate

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970116-2

7 January 2021

A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970116-2

7 January 2021

Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970116-2

7 January 2021

Diagnosis of mitochondrial DNA depletion syndromes

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970116-2

7 January 2021

Emerging functions of mammalian mitochondrial fusion and fission

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970116-2

7 January 2021

Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970116-2

7 January 2021

New insights into mitochondrial fusion

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970116-2

7 January 2021

MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970116-2

7 January 2021

Diagnosis and therapy in neuromuscular disorders: diagnosis and new treatments in mitochondrial diseases

1 reference

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7 January 2021

Mitochondrial disease in adults: a scale to monitor progression and treatment

1 reference

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7 January 2021

A scale to monitor progression and treatment of mitochondrial disease in children.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970116-2

7 January 2021

SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970116-2

7 January 2021

Mitochondrial DNA mutations in human disease

1 reference

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7 January 2021

Human mitochondrial complex I assembles through the combination of evolutionary conserved modules: a framework to interpret complex I deficiencies.

1 reference

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7 January 2021

The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970116-2

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970116-2

7 January 2021

Early coenzyme Q10 supplementation in primary coenzyme Q10 deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970116-2

7 January 2021

Human CoQ10 deficiencies

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970116-2

7 January 2021

Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970116-2

7 January 2021

DNA polymerase gamma and mitochondrial disease: understanding the consequence of POLG mutations.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970116-2

7 January 2021

Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970116-2

7 January 2021

A third locus predisposing to multiple deletions of mtDNA in autosomal dominant progressive external ophthalmoplegia

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970116-2

7 January 2021

Infantile Diffuse Cerebral Degeneration With Hepatic Cirrhosis

1 reference

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7 January 2021

Reversible valproate hepatotoxicity due to mutations in mitochondrial DNA polymerase gamma (POLG1).

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970116-2

7 January 2021

Status epilepticus in children with Alpers' disease caused by POLG1 mutations: EEG and MRI features

1 reference

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7 January 2021

The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970116-2

7 January 2021

Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970116-2

7 January 2021

MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970116-2

7 January 2021

Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970116-2

7 January 2021

The m.5650G>A mitochondrial tRNAAla mutation is pathogenic and causes a phenotype of pure myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970116-2

7 January 2021

Coenzyme Q10 deficiency and isolated myopathy.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970116-2

7 January 2021

Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970116-2

7 January 2021

Deficiency of the alpha subunit of succinate-coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletion

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970116-2

7 January 2021

Mitochondrial respiratory-chain diseases

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970116-2

7 January 2021

Noninvasive diagnosis of the 3243A > G mitochondrial DNA mutation using urinary epithelial cells.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970116-2

7 January 2021

Urine heteroplasmy is the best predictor of clinical outcome in the m.3243A>G mtDNA mutation.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970116-2

7 January 2021

Next generation sequence analysis for mitochondrial disorders

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970116-2

7 January 2021

Abnormal growth in mitochondrial disease

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970116-2

7 January 2021

Age and cause of death in mitochondrial diseases

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970116-2

7 January 2021

Natural history of Leber's hereditary optic neuropathy: longitudinal analysis of the retinal nerve fiber layer by optical coherence tomography

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970116-2

7 January 2021

Axonal loss occurs early in dominant optic atrophy

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970116-2

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970116-2

7 January 2021

Treatment of complex I deficiency with riboflavin

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970116-2

7 January 2021

Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970116-2

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970116-2

7 January 2021

Endurance exercise is protective for mice with mitochondrial myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970116-2

7 January 2021

The spectrum of exercise tolerance in mitochondrial myopathies: a study of 40 patients.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970116-2

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970116-2

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970116-2

7 January 2021

Gene shifting: a novel therapy for mitochondrial myopathy.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970116-2

7 January 2021

Resistance training in patients with single, large-scale deletions of mitochondrial DNA.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970116-2

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970116-2

7 January 2021

A randomized trial of beta-blockade in heart failure. The Cardiac Insufficiency Bisoprolol Study (CIBIS). CIBIS Investigators and Committees

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970116-2

7 January 2021

The effect of carvedilol on morbidity and mortality in patients with chronic heart failure. U.S. Carvedilol Heart Failure Study Group

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970116-2

7 January 2021

Wolff-Parkinson-White syndrome in Patients With MELAS.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970116-2

7 January 2021

The emerging concept of mitochondrial cardiomyopathies

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970116-2

7 January 2021

Kearns-Sayre syndrome associated with trifascicular block and QT prolongation

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970116-2

7 January 2021

Rapid development of life-threatening complete atrioventricular block in Kearns-Sayre syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970116-2

7 January 2021

Successful pregnancy and cesarean delivery via noninvasive ventilation in mitochondrial myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970116-2

7 January 2021

Renal pathology in children with mitochondrial diseases

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970116-2

7 January 2021

Inappropriate liver transplantation in a child with Alpers-Huttenlocher syndrome misdiagnosed as valproate-induced acute liver failure

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970116-2

7 January 2021

Fatal deterioration of neurological disease after orthotopic liver transplantation for valproic acid-induced liver damage.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970116-2

7 January 2021

Surgical management of strabismus associated with chronic progressive external ophthalmoplegia

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970116-2

7 January 2021

Problems with botulinum toxin treatment in mitochondrial cytopathy: case report and review of the literature

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970116-2

7 January 2021

Bilateral striatal necrosis, dystonia and multiple mitochondrial DNA deletions: Case study and effect of deep brain stimulation

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970116-2

7 January 2021

Prevalence and progression of diabetes in mitochondrial disease

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970116-2

7 January 2021

Analysis of mtDNA variant segregation during early human embryonic development: a tool for successful NARP preimplantation diagnosis

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970116-2

7 January 2021

Transmission of mitochondrial DNA disorders: possibilities for the future.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970116-2

7 January 2021

Pronuclear transfer in human embryos to prevent transmission of mitochondrial DNA disease

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970116-2

7 January 2021

Mitochondrial gene replacement in primate offspring and embryonic stem cells

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970116-2

7 January 2021

Mouse models of mitochondrial DNA defects and their relevance for human disease

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970116-2

7 January 2021

Mitochondrial disease in flies

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970116-2

7 January 2021

10.1016/S1474-4422(10)70116-2

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20650404%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

1 reference