A neurological perspective on mitochondrial disease. (Q37774749)

From Wikidata

Jump to navigation Jump to search

The printable version is no longer supported and may have rendering errors. Please update your browser bookmarks and please use the default browser print function instead.

scientific article published on August 2010

Language	Label	Description	Also known as
English	A neurological perspective on mitochondrial disease.	scientific article published on August 2010

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

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

Europe PubMed Central

A neurological perspective on mitochondrial disease (English)

1 reference

Europe PubMed Central

PubMed publication ID

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

based on heuristic

inferred from title

Robert McFarland

1

1 reference

Europe PubMed Central

PubMed publication ID

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

8 February 2020

Douglass Matthew Turnbull

3

1 reference

Europe PubMed Central

PubMed publication ID

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

2

object named as

Robert W Taylor

1 reference

Europe PubMed Central

PubMed publication ID

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

Europe PubMed Central

PubMed publication ID

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

8 February 2020

Lancet Neurology

1 reference

Europe PubMed Central

PubMed publication ID

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

8 February 2020

9

1 reference

Europe PubMed Central

PubMed publication ID

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

8 February 2020

8

1 reference

Europe PubMed Central

PubMed publication ID

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

8 February 2020

829-840

1 reference

Europe PubMed Central

PubMed publication ID

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

8 February 2020

Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies

1 reference

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

7 January 2021

based on heuristic

inferred from DOI database lookup

Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

1 reference

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

7 January 2021

based on heuristic

inferred from DOI database lookup

The neurology of mitochondrial DNA disease.

1 reference

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

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

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

7 January 2021

based on heuristic

inferred from DOI database lookup

Review: Mitochondria and disease progression in multiple sclerosis

1 reference

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

7 January 2021

based on heuristic

inferred from DOI database lookup

Mitochondrial dysfunction in the limelight of Parkinson's disease pathogenesis

1 reference

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

7 January 2021

based on heuristic

inferred from DOI database lookup

Mitochondrial dysfunction and oxidative stress in neurodegenerative diseases

1 reference

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

7 January 2021

based on heuristic

inferred from DOI database lookup

Supramolecular organization of ATP synthase and respiratory chain in mitochondrial membranes

1 reference

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

7 January 2021

based on heuristic

inferred from DOI database lookup

Genetic and evolutionary consequences of symbiosis

1 reference

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

7 January 2021

based on heuristic

inferred from DOI database lookup

Mitochondrial DNA mutations and human disease

1 reference

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

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

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

7 January 2021

based on heuristic

inferred from DOI database lookup

Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation

1 reference

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

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

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

7 January 2021

based on heuristic

inferred from DOI database lookup

A functionally dominant mitochondrial DNA mutation

1 reference

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

7 January 2021

based on heuristic

inferred from DOI database lookup

Inherited mitochondrial diseases of DNA replication

1 reference

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

7 January 2021

based on heuristic

inferred from DOI database lookup

Pathogenic mitochondrial DNA mutations are common in the general population

1 reference

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

7 January 2021

based on heuristic

inferred from DOI database lookup

Population prevalence of the MELAS A3243G mutation

1 reference

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

7 January 2021

based on heuristic

inferred from DOI database lookup

Prevalence of Mitochondrial 1555A→G Mutation in European Children

1 reference

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

7 January 2021

based on heuristic

inferred from DOI database lookup

Prevalence of mitochondrial DNA disease in adults

1 reference

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

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

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

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

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

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

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

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

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

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

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

7 January 2021

based on heuristic

inferred from DOI database lookup

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

based on heuristic

inferred from DOI database lookup

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

based on heuristic

inferred from DOI database lookup

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

based on heuristic

inferred from DOI database lookup

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

based on heuristic

inferred from DOI database lookup

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

based on heuristic

inferred from DOI database lookup

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

based on heuristic

inferred from DOI database lookup

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

based on heuristic

inferred from DOI database lookup

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

based on heuristic

inferred from DOI database lookup

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

based on heuristic

inferred from DOI database lookup

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

based on heuristic

inferred from DOI database lookup

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

based on heuristic

inferred from DOI database lookup

Germline SDHD mutation in familial phaeochromocytoma

1 reference

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

7 January 2021

based on heuristic

inferred from DOI database lookup

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

based on heuristic

inferred from DOI database lookup

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

based on heuristic

inferred from DOI database lookup

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

based on heuristic

inferred from DOI database lookup

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

based on heuristic

inferred from DOI database lookup

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

based on heuristic

inferred from DOI database lookup

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

1 reference

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

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

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

7 January 2021

based on heuristic

inferred from DOI database lookup

C6ORF66 is an assembly factor of mitochondrial complex I

1 reference

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

7 January 2021

based on heuristic

inferred from DOI database lookup

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

based on heuristic

inferred from DOI database lookup

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

1 reference

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

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

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

7 January 2021

based on heuristic

inferred from DOI database lookup

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

based on heuristic

inferred from DOI database lookup

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

based on heuristic

inferred from DOI database lookup

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

1 reference

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

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

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

7 January 2021

based on heuristic

inferred from DOI database lookup

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

based on heuristic

inferred from DOI database lookup

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

based on heuristic

inferred from DOI database lookup

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

based on heuristic

inferred from DOI database lookup

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

based on heuristic

inferred from DOI database lookup

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

based on heuristic

inferred from DOI database lookup

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

based on heuristic

inferred from DOI database lookup

Diagnosis of mitochondrial DNA depletion syndromes

1 reference

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

7 January 2021

based on heuristic

inferred from DOI database lookup

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

based on heuristic

inferred from DOI database lookup

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

based on heuristic

inferred from DOI database lookup

New insights into mitochondrial fusion

1 reference

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

7 January 2021

based on heuristic

inferred from DOI database lookup

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

based on heuristic

inferred from DOI database lookup

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

1 reference

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

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

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

7 January 2021

based on heuristic

inferred from DOI database lookup

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

based on heuristic

inferred from DOI database lookup

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

based on heuristic

inferred from DOI database lookup

Mitochondrial DNA mutations in human disease

1 reference

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

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

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

7 January 2021

based on heuristic

inferred from DOI database lookup

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

based on heuristic

inferred from DOI database lookup

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

based on heuristic

inferred from DOI database lookup

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

based on heuristic

inferred from DOI database lookup

Human CoQ10 deficiencies

1 reference

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

7 January 2021

based on heuristic

inferred from DOI database lookup

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

based on heuristic

inferred from DOI database lookup

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

based on heuristic

inferred from DOI database lookup

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

based on heuristic

inferred from DOI database lookup

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

based on heuristic

inferred from DOI database lookup

Infantile Diffuse Cerebral Degeneration With Hepatic Cirrhosis

1 reference

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

7 January 2021

based on heuristic

inferred from DOI database lookup

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

based on heuristic

inferred from DOI database lookup

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

1 reference

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

7 January 2021

based on heuristic

inferred from DOI database lookup

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

based on heuristic

inferred from DOI database lookup

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

based on heuristic

inferred from DOI database lookup

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

based on heuristic

inferred from DOI database lookup

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

based on heuristic

inferred from DOI database lookup

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

based on heuristic

inferred from DOI database lookup

Coenzyme Q10 deficiency and isolated myopathy.

1 reference

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

7 January 2021

based on heuristic

inferred from DOI database lookup

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

based on heuristic

inferred from DOI database lookup

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

based on heuristic

inferred from DOI database lookup

Mitochondrial respiratory-chain diseases

1 reference

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

7 January 2021

based on heuristic

inferred from DOI database lookup

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

based on heuristic

inferred from DOI database lookup

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

based on heuristic

inferred from DOI database lookup

Next generation sequence analysis for mitochondrial disorders

1 reference

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

7 January 2021

based on heuristic

inferred from DOI database lookup

Abnormal growth in mitochondrial disease

1 reference

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

7 January 2021

based on heuristic

inferred from DOI database lookup

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

based on heuristic

inferred from DOI database lookup

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

based on heuristic

inferred from DOI database lookup

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

based on heuristic

inferred from DOI database lookup

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

based on heuristic

inferred from DOI database lookup

Treatment of complex I deficiency with riboflavin

1 reference

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

7 January 2021

based on heuristic

inferred from DOI database lookup

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

based on heuristic

inferred from DOI database lookup

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

based on heuristic

inferred from DOI database lookup

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

based on heuristic

inferred from DOI database lookup

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

based on heuristic

inferred from DOI database lookup

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

based on heuristic

inferred from DOI database lookup

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

based on heuristic

inferred from DOI database lookup

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

based on heuristic

inferred from DOI database lookup

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

based on heuristic

inferred from DOI database lookup

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

based on heuristic

inferred from DOI database lookup

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

based on heuristic

inferred from DOI database lookup

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

based on heuristic

inferred from DOI database lookup

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

based on heuristic

inferred from DOI database lookup

The emerging concept of mitochondrial cardiomyopathies

1 reference

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

7 January 2021

based on heuristic

inferred from DOI database lookup

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

based on heuristic

inferred from DOI database lookup

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

based on heuristic

inferred from DOI database lookup

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

based on heuristic

inferred from DOI database lookup

Renal pathology in children with mitochondrial diseases

1 reference

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

7 January 2021

based on heuristic

inferred from DOI database lookup

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

based on heuristic

inferred from DOI database lookup

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

based on heuristic

inferred from DOI database lookup

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

based on heuristic

inferred from DOI database lookup

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

based on heuristic

inferred from DOI database lookup

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

based on heuristic

inferred from DOI database lookup

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

based on heuristic

inferred from DOI database lookup

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

based on heuristic

inferred from DOI database lookup

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

based on heuristic

inferred from DOI database lookup

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

based on heuristic

inferred from DOI database lookup

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

based on heuristic

inferred from DOI database lookup

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

based on heuristic

inferred from DOI database lookup

Mitochondrial disease in flies

1 reference

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

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1016/S1474-4422(10)70116-2

1 reference

Europe PubMed Central

PubMed publication ID

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

8 February 2020

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

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

8 February 2020

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q37774749&oldid=2232514634"