(Q35038648)

5 August 2017

1 reference

title

Cytochrome c oxidase deficiency. (English)

1 reference

5 August 2017

4

Nereo Bresolin

1 reference

5 August 2017

Giacomo P Comi

1

1 reference

PubMed ID

12512342

5 August 2017

Sandra Strazzer

series ordinal

2

1 reference

PubMed ID

12512342

5 August 2017

Sara Galbiati

series ordinal

3

1 reference

5 August 2017

1 January 2002

1 reference

International Review of Neurobiology

5 August 2017

1 reference

5 August 2017

53

1 reference

5 August 2017

205-240

1 reference

Leigh syndrome in an infant resulting from mitochondrial DNA depletion.

5 August 2017

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953009-9

7 January 2021

Childhood encephalomyopathy with cytochrome c oxidase deficiency, ataxia, muscle wasting, and mental impairment.

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953009-9

7 January 2021

Depletion of mitochondrial deoxyribonucleic acid in a family with fatal neonatal liver disease

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953009-9

7 January 2021

Mitochondrial DNA depletion syndrome is expressed in amniotic fluid cell cultures.

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953009-9

7 January 2021

OXA1, a Saccharomyces cerevisiae nuclear gene whose sequence is conserved from prokaryotes to eukaryotes controls cytochrome oxidase biogenesis.

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953009-9

7 January 2021

Mitochondrial cytochrome deficiency presenting as a myopathy with hypotonia, external ophthalmoplegia, and lactic acidosis in an infant and as fatal hepatopathy in a second cousin.

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953009-9

7 January 2021

Fatal infantile cytochrome c oxidase deficiency: decrease of immunologically detectable enzyme in muscle

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953009-9

7 January 2021

A stop-codon mutation in the human mtDNA cytochrome c oxidase I gene disrupts the functional structure of complex IV.

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953009-9

7 January 2021

Clinical heterogeneity associated with mitochondrial DNA depletion in muscle.

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953009-9

7 January 2021

Structure and function of cytochrome c oxidase

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953009-9

7 January 2021

Multiple mtDNA deletions features in autosomal dominant and recessive diseases suggest distinct pathogeneses

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953009-9

7 January 2021

MELAS: clinical features, biochemistry, and molecular genetics

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953009-9

7 January 2021

An mtDNA mutation in the initiation codon of the cytochrome C oxidase subunit II gene results in lower levels of the protein and a mitochondrial encephalomyopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953009-9

7 January 2021

Cytochrome c oxidase subunit I microdeletion in a patient with motor neuron disease.

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953009-9

7 January 2021

Fatal infhntile mitochondrial myopathy and renal dysfunction due to cytochrome-c-oxidase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953009-9

7 January 2021

Benign infantile mitochondrial myopathy due to reversible cytochrome c oxidase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953009-9

7 January 2021

Depletion of mitochondrial DNA associated with infantile cholestasis and progressive liver fibrosis.

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953009-9

7 January 2021

Defects of the mitochondrial respiratory chain complexes in three pediatric cases with hypotonia and cardiac involvement

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953009-9

7 January 2021

Characterization of COX17, a yeast gene involved in copper metabolism and assembly of cytochrome oxidase

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953009-9

7 January 2021

SCO1 and SCO2 act as high copy suppressors of a mitochondrial copper recruitment defect in Saccharomyces cerevisiae

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953009-9

7 January 2021

https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953009-9

1 reference

7 January 2021

A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies.

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953009-9

7 January 2021

A new mtDNA mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS).

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953009-9

7 January 2021

Cytochrome c oxidase deficiency associated with the first stop-codon point mutation in human mtDNA.

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953009-9

7 January 2021

A newborn infant with respiratory distress and persistent stridulous breathing

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953009-9

7 January 2021

Strongly succinate dehydrogenase-reactive blood vessels in muscles from patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953009-9

7 January 2021

Cytochrome-c-oxidase deficiency in a floppy infant

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953009-9

7 January 2021

Identification of Cox20p, a novel protein involved in the maturation and assembly of cytochrome oxidase subunit 2.

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953009-9

7 January 2021

Melas: an original case and clinical criteria for diagnosis

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953009-9

7 January 2021

Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953009-9

7 January 2021

Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953009-9

7 January 2021

Role of adenine nucleotide translocator 1 in mtDNA maintenance

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953009-9

7 January 2021

A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953009-9

7 January 2021

A genomewide linkage-disequilibrium scan localizes the Saguenay-Lac-Saint-Jean cytochrome oxidase deficiency to 2p16

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953009-9

7 January 2021

Subacute necrotizing encephalomyelopathy in an infant

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953009-9

7 January 2021

Mapping of autosomal dominant progressive external ophthalmoplegia to a 7-cM critical region on 10q24

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953009-9

7 January 2021

Depletion of mitochondrial DNA in the liver of a patient with lactic acidemia and hypoketotic hypoglycemia.

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953009-9

7 January 2021

Diagnosis of fatal infantile defects of the mitochondrial respiratory chain: age dependence and postmortem analysis of enzyme activities

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953009-9

7 January 2021

A new mutation associated with MELAS is located in a mitochondrial DNA polypeptide-coding gene.

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953009-9

7 January 2021

Association of myopathy with large-scale mitochondrial DNA duplications and deletions: which is pathogenic?

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953009-9

7 January 2021

Cardiac mitochondrial dysfunction and DNA depletion in children with hypertrophic cardiomyopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953009-9

7 January 2021

Biochemical and molecular basis for mitochondrial cardiomyopathy in neonates and children

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953009-9

7 January 2021

Early-onset encephalomyopathy associated with tissue-specific mitochondrial DNA depletion: a morphological, biochemical and molecular-genetic study.

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953009-9

7 January 2021

Magnetic resonance imaging shows specific abnormalities in the MELAS syndrome.

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953009-9

7 January 2021

Fatal infantile liver failure associated with mitochondrial DNA depletion

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953009-9

7 January 2021

Sequence and chromosomal localization of two PET genes required for cytochrome c oxidase assembly in Saccharomyces cerevisiae

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953009-9

7 January 2021

Fatal infantile mitochondrial myopathy due to cytochrome c oxidase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953009-9

7 January 2021

Biosynthesis and functional role of haem O and haem A.

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953009-9

7 January 2021

Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. Is the tRNA(Leu(UUR)) gene an etiologic hot spot?

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953009-9

7 January 2021

A new point mutation associated with mitochondrial encephalomyopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953009-9

7 January 2021

MNGIE: from nuclear DNA to mitochondrial DNA.

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953009-9

7 January 2021

de Toni-Fanconi-Debré syndrome with Leigh syndrome revealing severe muscle cytochrome c oxidase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953009-9

7 January 2021

Mitochondrial angiopathy in cerebral blood vessels of mitochondrial encephalomyopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953009-9

7 January 2021

Myoclonus epilepsy associated with ragged-red fibers: a G-to-A mutation at nucleotide pair 8363 in mitochondrial tRNA(Lys) in two families.

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953009-9

7 January 2021

Partial depletion and multiple deletions of muscle mtDNA in familial MNGIE syndrome.

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953009-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953009-9

7 January 2021

Early-onset fatal encephalomyopathy associated with severe mtDNA depletion

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953009-9

7 January 2021

The identification of 18 nuclear genes required for the expression of the yeast mitochondrial gene encoding cytochrome c oxidase subunit 1

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953009-9

7 January 2021

Fatal neonatal outcome in a case of muscular mitochondrial DNA depletion

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953009-9

7 January 2021

Somatic mutations of the mitochondrial genome in human colorectal tumours

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953009-9

7 January 2021

Mitochondrial myopathy simulating spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953009-9

7 January 2021

Duplications of mitochondrial DNA in mitochondrial myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953009-9

7 January 2021

Deficiency of the human mitochondrial transcription factor h-mtTFA in infantile mitochondrial myopathy is associated with mtDNA depletion.

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953009-9

7 January 2021

Variation in mitochondrial DNA levels in muscle from normal controls. Is depletion of mtDNA in patients with mitochondrial myopathy a distinct clinical syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953009-9

7 January 2021

Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patients

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953009-9

7 January 2021

Cerebral infarction associated with Kearns-Sayre syndrome-related cardiomyopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953009-9

7 January 2021

Leigh syndrome: clinical features and biochemical and DNA abnormalities.

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953009-9

7 January 2021

Mitochondrial copper metabolism in yeast: mutational analysis of Sco1p involved in the biogenesis of cytochrome c oxidase

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953009-9

7 January 2021

Disorders associated with depletion of mitochondrial DNA

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953009-9

7 January 2021

Spinal muscular atrophy-like picture, cardiomyopathy, and cytochrome c oxidase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953009-9

7 January 2021

Heme O biosynthesis in Escherichia coli: the cyoE gene in the cytochrome bo operon encodes a protoheme IX farnesyltransferase

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953009-9

7 January 2021

Reversible mitochondrial myopathy with cytochrome c oxidase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953009-9

7 January 2021

A novel SURF1 mutation results in Leigh syndrome with peripheral neuropathy caused by cytochrome c oxidase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953009-9

7 January 2021

Cytochrome c oxidase deficiency presenting as recurrent neonatal myoglobinuria

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953009-9

7 January 2021

Mitochondrial myopathies and encephalomyopathies

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953009-9

7 January 2021

Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953009-9

7 January 2021

Clinical features associated with the A-->G transition at nucleotide 8344 of mtDNA ("MERRF mutation").

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953009-9

7 January 2021

A novel mitochondrial DNA point mutation in the tRNA(Ile) gene is associated with progressive external ophtalmoplegia.

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953009-9

7 January 2021

Mitochondria and childhood liver diseases

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953009-9

7 January 2021

Infantile encephalopathy associated with the MELAS A3243G mutation.

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953009-9

7 January 2021

Differential features of patients with mutations in two COX assembly genes, SURF-1 and SCO2

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953009-9

7 January 2021

Molecular mechanisms in mitochondrial DNA depletion syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953009-9

7 January 2021

MELAS associated with a mutation in the valine transfer RNA gene of mitochondrial DNA

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953009-9

7 January 2021

Fatal cytochrome c oxidase-deficient myopathy of infancy associated with mtDNA depletion. Differential involvement of skeletal muscle and cultured fibroblasts

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953009-9

7 January 2021

Regulation of maltose fermentation in Saccharomyces carlsbergensis. 3. Constitutive mutations at the MAL6-locus and suppressors changing a constitutive phenotype into a maltose negative phenotype

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953009-9

7 January 2021

Two novel mutations of SURF1 in Leigh syndrome with cytochrome c oxidase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953009-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953009-9

7 January 2021

Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochromec oxidase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953009-9

7 January 2021

A novel frameshift mutation of the mtDNA COIII gene leads to impaired assembly of cytochrome c oxidase in a patient affected by Leigh-like syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953009-9

7 January 2021

Differential diagnosis of fatal and benign cytochrome c oxidase-deficient myopathies of infancy: an immunohistochemical approach

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953009-9

7 January 2021

Mitochondrial myopathy of childhood associated with depletion of mitochondrial DNA

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953009-9

7 January 2021

Mitochondrial DNA depletion in children

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953009-9

7 January 2021

A mutation in the human heme A:farnesyltransferase gene (COX10 ) causes cytochrome c oxidase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953009-9

7 January 2021

Hereditary mitochondrial myopathy with lactic acidemia, a De Toni-Fanconi-Debré syndrome, and a defective respiratory chain in voluntary striated muscles

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953009-9

7 January 2021

Clinical manifestations of mitochondrial DNA depletion.

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953009-9

7 January 2021

Mitochondrial DNA depletion in a patient with long survival

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953009-9

7 January 2021

Expression and functional analysis of SURF1 in Leigh syndrome patients with cytochrome c oxidase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953009-9

7 January 2021

Fatal infantile mitochondrial myopathy and renal dysfunction caused by cytochrome c oxidase deficiency: immunological studies in a new patient

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953009-9

7 January 2021

Myopathy and fatal cardiopathy due to cytochrome c oxidase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953009-9

7 January 2021

Benign reversible muscle cytochrome c oxidase deficiency: a second case

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953009-9

7 January 2021

A MERRF/MELAS overlap syndrome associated with a new point mutation in the mitochondrial DNA tRNA(Lys) gene

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953009-9

7 January 2021

OXPHOS defects and mitochondrial DNA mutations in cardiomyopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953009-9

7 January 2021

Deletions of mitochondrial DNA in Kearns-Sayre syndrome. 1988.

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953009-9

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%2FS0074-7742%2802%2953009-9

7 January 2021

Rapid method for isolation and screening of cytochrome c oxidase-deficient mutants of Saccharomyces cerevisiae

1 reference

https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953009-9

7 January 2021

10.1016/S0074-7742(02)53009-9

Identifiers

DOI

1 reference

5 August 2017

1 reference

PubMed ID

12512342