Home
Random
Nearby
Log in
Settings
Donate
About Wikidata
Disclaimers
Search
(Q78517318)
Watch
English
Mitochondrial diseases
scientific article published on 01 August 2002
In more languages
default values for all languages
No label defined
No description defined
edit
Statements
instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12432831
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12432831%20AND%20SRC:MED&resulttype=core&format=json
retrieved
14 December 2019
review article
1 reference
stated in
Europe PubMed Central
title
Mitochondrial diseases
(English)
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12432831
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12432831%20AND%20SRC:MED&resulttype=core&format=json
retrieved
14 December 2019
author name string
Tuan H Vu
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12432831
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12432831%20AND%20SRC:MED&resulttype=core&format=json
retrieved
14 December 2019
Michio Hirano
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12432831
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12432831%20AND%20SRC:MED&resulttype=core&format=json
retrieved
14 December 2019
Salvatore DiMauro
series ordinal
3
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12432831
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12432831%20AND%20SRC:MED&resulttype=core&format=json
retrieved
14 December 2019
publication date
1 August 2002
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12432831
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12432831%20AND%20SRC:MED&resulttype=core&format=json
retrieved
14 December 2019
published in
Neurologic Clinics
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12432831
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12432831%20AND%20SRC:MED&resulttype=core&format=json
retrieved
14 December 2019
volume
20
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12432831
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12432831%20AND%20SRC:MED&resulttype=core&format=json
retrieved
14 December 2019
issue
3
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12432831
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12432831%20AND%20SRC:MED&resulttype=core&format=json
retrieved
14 December 2019
page(s)
809-39, vii-viii
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12432831
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12432831%20AND%20SRC:MED&resulttype=core&format=json
retrieved
14 December 2019
cites work
Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Sequence and organization of the human mitochondrial genome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Exercise intolerance and the mitochondrial respiratory chain.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The epidemiology of pathogenic mitochondrial DNA mutations
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes: prevalence of the mutation in an adult population.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Atypical clinical presentations associated with the MELAS mutation at position 3243 of human mitochondrial DNA
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
RAPID EXAMINATION OF MUSCLE TISSUE. AN IMPROVED TRICHROME METHOD FOR FRESH-FROZEN BIOPSY SECTIONS
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A novel point mutation in the mitochondrial tRNA(Leu)(UUR) gene in a family with mitochondrial myopathy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A new mitochondrial DNA mutation (A3288G) in the tRNALeu(UUR) gene associated with familial myopathy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mitochondrial myopathy with tRNA(Leu(UUR)) mutation and complex I deficiency responsive to riboflavin
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A mitochondrial tRNA anticodon swap associated with a muscle disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A new mitochondrial tRNA(Met) gene mutation in a patient with dystrophic muscle and exercise intolerance
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Two large Spanish pedigrees with nonsyndromic sensorineural deafness and the mtDNA mutation at nt 1555 in the 12s rRNA gene: evidence of heteroplasmy.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Maternally inherited cardiomyopathy: an atypical presentation of the mtDNA 12S rRNA gene A1555G mutation
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mitochondrial encephalomyopathy and complex III deficiency associated with a stop-codon mutation in the cytochrome b gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A novel gly290asp mitochondrial cytochrome b mutation linked to a complex III deficiency in progressive exercise intolerance
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A missense mutation in the mitochondrial cytochrome b gene in a revisited case with histiocytoid cardiomyopathy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Exercise intolerance due to a nonsense mutation in the mtDNA ND4 gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A case of mitochondrial myopathy, lactic acidosis and complex I deficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Intragenic inversion of mtDNA: a new type of pathogenic mutation in a patient with mitochondrial myopathy.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Recurrent myoglobinuria due to a nonsense mutation in the COX I gene of mitochondrial DNA.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Genetic heterogeneity in Leigh syndrome.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
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
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
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
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
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
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Compound heterozygous mutations in the flavoprotein gene of the respiratory chain complex II in a patient with Leigh syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
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
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Molecular analysis of cytochrome c oxidase deficiency in Leigh's syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identification and characterization of human cDNAs specific to BCS1, PET112, SCO1, COX15, and COX11, five genes involved in the formation and function of the mitochondrial respiratory chain
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
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
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
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
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Differential features of patients with mutations in two COX assembly genes, SURF-1 and SCO2
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
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
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A mutation in the human heme A:farnesyltransferase gene (COX10 ) causes cytochrome c oxidase deficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Characterization of human SCO1 and COX17 genes in mitochondrial cytochrome-c-oxidase deficiency.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mitochondrial respiratory chain diseases and mutations in nuclear DNA: a promising start?
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mitochondrial DNA depletion: prevalence in a pediatric population referred for neurologic evaluation.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mitochondrial DNA polymerase gamma deficiency and mtDNA depletion in a child with Alpers' syndrome.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Navajo neurohepatopathy: a mitochondrial DNA depletion syndrome?
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Characterization of the mitochondrial DNA abnormalities in the skeletal muscle of patients with inclusion body myositis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Depletion of muscle mitochondrial DNA in AIDS patients with zidovudine-induced myopathy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mitochondrial DNA depletion, near-fatal metabolic acidosis, and liver failure in an HIV-infected child treated with combination antiretroviral therapy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Clinical manifestations of mitochondrial DNA depletion
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Depletion of mitochondrial DNA in the liver of a patient with lactic acidemia and hypoketotic hypoglycemia.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Early-onset encephalomyopathy associated with tissue-specific mitochondrial DNA depletion: a morphological, biochemical and molecular-genetic study
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Molecular mechanisms in mitochondrial DNA depletion syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Does the patient have a mitochondrial encephalomyopathy?
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The clinical features of mitochondrial myopathy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Depletion of mitochondrial deoxyribonucleic acid in a family with fatal neonatal liver disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Liver failure associated with mitochondrial DNA depletion
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
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
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Multiple mtDNA deletions features in autosomal dominant and recessive diseases suggest distinct pathogeneses
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Multiple mitochondrial DNA deletions associated with autosomal recessive ophthalmoplegia and severe cardiomyopathy.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Sensory ataxic neuropathy as the presenting feature of a novel mitochondrial disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mitochondrial cytopathy presenting as hereditary sensory neuropathy with progressive external ophthalmoplegia, ataxia and fatal myoclonic epileptic status
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mitochondrial neurogastrointestinal encephalomyopathy syndrome maps to chromosome 22q13.32-qter.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Role of adenine nucleotide translocator 1 in mtDNA maintenance
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mitochondrial neurogastrointestinal encephalomyopathy: An autosomal recessive disorder due to thymidine phosphorylase mutations
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Altered thymidine metabolism due to defects of thymidine phosphorylase
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Dominantly inherited mitochondrial myopathy with multiple deletions of mitochondrial DNA: clinical, morphologic, and biochemical studies
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Multiple deletions of mitochondrial DNA in several tissues of a patient with severe retarded depression and familial progressive external ophthalmoplegia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
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
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
An autosomal locus predisposing to deletions of mitochondrial DNA
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mapping of autosomal dominant progressive external ophthalmoplegia to a 7-cM critical region on 10q24
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
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
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Kearns-Sayre syndrome with reduced plasma and cerebrospinal fluid folate
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Near-infrared spectroscopy in the diagnosis of mitochondrial disorders
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Phosphorus magnetic resonance spectroscopy (31P MRS) in neuromuscular disorders
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Strongly succinate dehydrogenase-reactive blood vessels in muscles from patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Detection of "deleted" mitochondrial genomes in cytochrome-c oxidase-deficient muscle fibers of a patient with Kearns-Sayre syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. Is the tRNA(Leu(UUR)) gene an etiologic hot spot?
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations in mtDNA: are we scraping the bottom of the barrel?
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A new mutation associated with MELAS is located in a mitochondrial DNA polypeptide-coding gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNA(Ser(UCN)) gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Ekbom's syndrome: lipomas, ataxia, and neuropathy with MERRF
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mitochondrial G8363A mutation presenting as cerebellar ataxia and lipomas in an Italian family
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Fatal infantile liver failure associated with mitochondrial DNA depletion
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Valproic acid impairs carnitine uptake in cultured human skin fibroblasts. An in vitro model for the pathogenesis of valproic acid-associated carnitine deficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Cochlear origin of hearing loss in MELAS syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Cardiac transplantation in an incomplete Kearns-Sayre syndrome with mitochondrial DNA deletion.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The pharmacology of dichloroacetate
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Short-term dichloroacetate treatment improves indices of cerebral metabolism in patients with mitochondrial disorders
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Effects of dichloroacetate in three patients with MELAS.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Concomitant administration of sodium dichloroacetate and vitamin B1 for lactic acidemia in children with MELAS syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Beneficial effect of sodium dichloroacetate in muscle cytochrome C oxidase deficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
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.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mitochondrial myopathy due to complex III deficiency with normal reducible cytochrome b concentration
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Muscle coenzyme Q10 in mitochondrial encephalomyopathies
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A randomized, controlled trial of creatine monohydrate in patients with mitochondrial cytopathies
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The role of mitochondria in the pathogenesis of neurodegenerative diseases
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Effect of coenzyme Q10 in patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS): evaluation by noninvasive tissue oximetry
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
31P NMR spectroscopy and ergometer exercise test as evidence for muscle oxidative performance improvement with coenzyme Q in mitochondrial myopathies
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Clinical and biochemical correlations in mitochondrial myopathies treated with coenzyme Q10
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Metabolic changes in patients with mitochondrial myopathies and effects of coenzyme Q10 therapy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Antioxidant therapy in neurologic disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
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
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Idebenone improves cerebral mitochondrial oxidative metabolism in a patient with MELAS.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Treatment of Kearns-Sayre syndrome with coenzyme Q10
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes with recurrent abdominal symptoms and coenzyme Q10 administration
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Drug delivery to mitochondria: the key to mitochondrial medicine
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Luft's disease. Further biochemical and ultrastructural studies of skeletal muscle in the second case
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Severe hypermetabolism with primary abnormality of skeletal muscle mitochondria
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Reversal of a mitochondrial DNA defect in human skeletal muscle.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
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.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Evaluation of bupivacaine-induced muscle regeneration in the treatment of ptosis in patients with chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Gene shifting: a novel therapy for mitochondrial myopathy.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mitochondrial DNA mutations at nucleotide 8993 show a lack of tissue- or age-related variation
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Two cases of prenatal analysis for the pathogenic T to G substitution at nucleotide 8993 in mitochondrial DNA
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900017-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1016/S0733-8619(01)00017-2
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12432831
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12432831%20AND%20SRC:MED&resulttype=core&format=json
retrieved
14 December 2019
PubMed publication ID
12432831
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12432831
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12432831%20AND%20SRC:MED&resulttype=core&format=json
retrieved
14 December 2019
Sitelinks
Wikipedia
(0 entries)
edit
Wikibooks
(0 entries)
edit
Wikinews
(0 entries)
edit
Wikiquote
(0 entries)
edit
Wikisource
(0 entries)
edit
Wikiversity
(0 entries)
edit
Wikivoyage
(0 entries)
edit
Wiktionary
(0 entries)
edit
Multilingual sites
(0 entries)
edit