(Q73182916)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9083263%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

0 references

1 reference

title

The kidney in mitochondrial cytopathies (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9083263%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

author name string

P Niaudet

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9083263%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

A Rotig

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9083263%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

language of work or name

English

0 references

publication date

1 April 1997

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9083263%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9083263%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

volume

51

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9083263%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9083263%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

page(s)

1000-1007

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9083263%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/ki.1997.140

2 November 2019

exact match

0 references

cites work

Seminars in medicine of the Beth Israel Hospital, Boston. Mitochondrial DNA and disease

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https://api.crossref.org/works/10.1038%2FKI.1997.140

7 January 2021

The development of mitochondrial medicine

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https://api.crossref.org/works/10.1038%2FKI.1997.140

7 January 2021

Mitochondrial encephalomyopathies

1 reference

https://api.crossref.org/works/10.1038%2FKI.1997.140

7 January 2021

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

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https://api.crossref.org/works/10.1038%2FKI.1997.140

7 January 2021

Mitochondrial myopathies. Clinical, morphological and biochemical aspects

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https://api.crossref.org/works/10.1038%2FKI.1997.140

7 January 2021

The clinical features of mitochondrial myopathy.

1 reference

https://api.crossref.org/works/10.1038%2FKI.1997.140

7 January 2021

The mitochondrial electron transport and oxidative phosphorylation system

1 reference

https://api.crossref.org/works/10.1038%2FKI.1997.140

7 January 2021

Structure and function of the mitochondrial genome

1 reference

https://api.crossref.org/works/10.1038%2FKI.1997.140

7 January 2021

Replication of animal mitochondrial DNA.

1 reference

https://api.crossref.org/works/10.1038%2FKI.1997.140

7 January 2021

Precise identification of individual promoters for transcription of each strand of human mitochondrial DNA.

1 reference

https://api.crossref.org/works/10.1038%2FKI.1997.140

7 January 2021

Identification of a promoter for transcription of the heavy strand of human mtDNA: In vitro transcription and deletion mutagenesis

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https://api.crossref.org/works/10.1038%2FKI.1997.140

7 January 2021

Clinical aspects of mitochondrial disorders

1 reference

https://api.crossref.org/works/10.1038%2FKI.1997.140

7 January 2021

Lumping or splitting? "Ophthalmoplegia-plus" or Kearns-Sayre syndrome?

1 reference

https://api.crossref.org/works/10.1038%2FKI.1997.140

7 January 2021

Mitochondrial encephalomyopathies

1 reference

https://api.crossref.org/works/10.1038%2FKI.1997.140

7 January 2021

Diseases of the mitochondrial DNA.

1 reference

https://api.crossref.org/works/10.1038%2FKI.1997.140

7 January 2021

Mitochondrial encephalomyopathies: clinical and molecular analysis

1 reference

https://api.crossref.org/works/10.1038%2FKI.1997.140

7 January 2021

Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: A distinctive clinical syndrome

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https://api.crossref.org/works/10.1038%2FKI.1997.140

7 January 2021

Maternally inherited mitochondrial myopathy and myoclonic epilepsy.

1 reference

https://api.crossref.org/works/10.1038%2FKI.1997.140

7 January 2021

Mitochondrial myopathies: clinical and biochemical features of 30 patients with major deletions of muscle mitochondrial DNA

1 reference

https://api.crossref.org/works/10.1038%2FKI.1997.140

7 January 2021

Deletion of mitochondrial DNA in patients with combined features of Kearns-Sayre and MELAS syndromes.

1 reference

https://api.crossref.org/works/10.1038%2FKI.1997.140

7 January 2021

Movement disorders in mitochondrial myopathies. A study of nine cases with two autopsy studies

1 reference

https://api.crossref.org/works/10.1038%2FKI.1997.140

7 January 2021

Mitochondrial encephalopathies: molecular genetic diagnosis from blood samples

1 reference

https://api.crossref.org/works/10.1038%2FKI.1997.140

7 January 2021

Mitochondrial encephalomyopathy with lactate-pyruvate elevation and brain infarctions

1 reference

https://api.crossref.org/works/10.1038%2FKI.1997.140

7 January 2021

Progression from MERRF to MELAS phenotype in a patient with combined respiratory complex I and IV deficiencies

1 reference

https://api.crossref.org/works/10.1038%2FKI.1997.140

7 January 2021

Mitochondrial cytopathy. A multisystem disorder with ragged red fibres on muscle biopsy

1 reference

https://api.crossref.org/works/10.1038%2FKI.1997.140

7 January 2021

Polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudo-obstruction: POLIP syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FKI.1997.140

7 January 2021

Congenital cataract and mitochondrial myopathy of skeletal and heart muscle associated with lactic acidosis after exercise

1 reference

https://api.crossref.org/works/10.1038%2FKI.1997.140

7 January 2021

Endomyocardial biopsies for early detection of mitochondrial disorders in hypertrophic cardiomyopathies

1 reference

https://api.crossref.org/works/10.1038%2FKI.1997.140

7 January 2021

A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction

1 reference

https://api.crossref.org/works/10.1038%2FKI.1997.140

7 January 2021

Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy

1 reference

https://api.crossref.org/works/10.1038%2FKI.1997.140

7 January 2021

Fatal lactic acidosis in infancy with a defect of complex III of the respiratory chain

1 reference

https://api.crossref.org/works/10.1038%2FKI.1997.140

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FKI.1997.140

7 January 2021

Chronic progressive external ophthalmoplegia: a correlative study of mitochondrial DNA deletions and their phenotypic expression in muscle biopsies

1 reference

https://api.crossref.org/works/10.1038%2FKI.1997.140

7 January 2021

Cytochrome-c-oxidase deficiency in a floppy infant

1 reference

https://api.crossref.org/works/10.1038%2FKI.1997.140

7 January 2021

Glycogen storage disease, Fanconi nephropathy, abnormal galactose metabolism and mitochondrial myopathy

1 reference

https://api.crossref.org/works/10.1038%2FKI.1997.140

7 January 2021

Mitochondrial cytopathy with lactic acidosis, carnitine deficiency and DeToni-Fanconi-Debré syndrome

1 reference

https://api.crossref.org/works/10.1038%2FKI.1997.140

7 January 2021

Congenital hypoplastic anemia, diabetes, and severe renal tubular dysfunction associated with a mitochondrial DNA deletion

1 reference

https://api.crossref.org/works/10.1038%2FKI.1997.140

7 January 2021

Fatal infantile mitochondrial myopathy due to cytochrome c oxidase deficiency

1 reference

https://api.crossref.org/works/10.1038%2FKI.1997.140

7 January 2021

Renal and skin involvement in a patient with complete Kearns-Sayre syndrome

1 reference

https://api.crossref.org/works/10.1038%2FKI.1997.140

7 January 2021

Neonatal Fanconi syndrome due to deficiency of complex III of the respiratory chain

1 reference

https://api.crossref.org/works/10.1038%2FKI.1997.140

7 January 2021

Fatal lipid storage myopathy with deficiency of cytochrome-c-oxidase and carnitine. A contribution to the combined cytochemical-finestructural identification of cytochrome-c-oxidase in longterm frozen muscle

1 reference

https://api.crossref.org/works/10.1038%2FKI.1997.140

7 January 2021

Deletion of the mitochondrial DNA in a case of de Toni-Debr�-Fanconi syndrome and Pearson syndrome

1 reference

https://api.crossref.org/works/10.1038%2FKI.1997.140

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/10.1038%2FKI.1997.140

7 January 2021

Mitochondrial myopathy with lactic acidaemia, Fanconi-De Toni-Debré syndrome and a disturbed succinate: cytochrome c oxidoreductase activity

1 reference

https://api.crossref.org/works/10.1038%2FKI.1997.140

7 January 2021

Mitochondrial DNA deletion: a cause of chronic tubulointerstitial nephropathy

1 reference

https://api.crossref.org/works/10.1038%2FKI.1997.140

7 January 2021

Abnormal mitochondria on a renal biopsy from a case of mitochondrial myopathy.

1 reference

https://api.crossref.org/works/10.1038%2FKI.1997.140

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/10.1038%2FKI.1997.140

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/10.1038%2FKI.1997.140

7 January 2021

Kearns-Sayre syndrome presenting as renal tubular acidosis

1 reference

https://api.crossref.org/works/10.1038%2FKI.1997.140

7 January 2021

Renal function studies and kidney pyruvate carboxylase in subacute necrotizing encephalomyelopathy (Leigh's syndrome).

1 reference

https://api.crossref.org/works/10.1038%2FKI.1997.140

7 January 2021

Renal tubular involvement mimicking Bartter syndrome in a patient with Kearns-Sayre syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FKI.1997.140

7 January 2021

Familial juvenile nephronophthisis, Jeune's syndrome, and associated disorders

1 reference

https://api.crossref.org/works/10.1038%2FKI.1997.140

7 January 2021

Deletion of mitochondrial DNA in patient with chronic tubulointerstitial nephritis

1 reference

https://api.crossref.org/works/10.1038%2FKI.1997.140

7 January 2021

Mitochondrial gene mutation and insulin-deficient type of diabetes mellitus

1 reference

https://api.crossref.org/works/10.1038%2FKI.1997.140

7 January 2021

Diabetes mellitus associated with a pathogenic point mutation in mitochondrial DNA

1 reference

https://api.crossref.org/works/10.1038%2FKI.1997.140

7 January 2021

Maternally transmitted diabetes and deafness associated with a 10.4 kb mitochondrial DNA deletion

1 reference

https://api.crossref.org/works/10.1038%2FKI.1997.140

7 January 2021

Mutation in mitochondrial tRNALeu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness

1 reference

https://api.crossref.org/works/10.1038%2FKI.1997.140

7 January 2021

Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy, and deafness (Wolfram syndrome, MIM 222300).

1 reference

https://api.crossref.org/works/10.1038%2FKI.1997.140

7 January 2021

A subtype of diabetes mellitus associated with a mutation of mitochondrial DNA.

1 reference

https://api.crossref.org/works/10.1038%2FKI.1997.140

7 January 2021

The expanding clinical phenotype of the tRNA(Leu(UUR)) A-->G mutation at np 3243 of mitochondrial DNA: diabetic embryopathy associated with mitochondrial cytopathy.

1 reference

https://api.crossref.org/works/10.1038%2FKI.1997.140

7 January 2021

Point mutation of the mitochondrial tRNA(Leu) gene (A 3243 G) in maternally inherited hypertrophic cardiomyopathy, diabetes mellitus, renal failure, and sensorineural deafness

1 reference

https://api.crossref.org/works/10.1038%2FKI.1997.140

7 January 2021

The measurement of the rotenone-sensitive NADH cytochrome c reductase activity in mitochondria isolated from minute amount of human skeletal muscle.

1 reference

https://api.crossref.org/works/10.1038%2FKI.1997.140

7 January 2021

Biochemical and molecular investigations in respiratory chain deficiencies

1 reference

https://api.crossref.org/works/10.1038%2FKI.1997.140

7 January 2021

Maternal inheritance of human mitochondrial DNA

1 reference

https://api.crossref.org/works/10.1038%2FKI.1997.140

7 January 2021

A mitochondrial DNA mutation as a cause of Leber's hereditary optic neuropathy

1 reference

https://api.crossref.org/works/10.1038%2FKI.1997.140

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/10.1038%2FKI.1997.140

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/10.1038%2FKI.1997.140

7 January 2021

Maternally inherited myopathy and cardiomyopathy: association with mutation in mitochondrial DNA tRNALeu(UUR)

1 reference

https://api.crossref.org/works/10.1038%2FKI.1997.140

7 January 2021

Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome

1 reference

https://api.crossref.org/works/10.1038%2FKI.1997.140

7 January 2021

Deletions of mitochondrial DNA in Kearns-Sayre syndrome

1 reference

https://api.crossref.org/works/10.1038%2FKI.1997.140

7 January 2021

Deletions of muscle mitochondrial DNA in mitochondrial myopathies: sequence analysis and possible mechanisms.

1 reference

https://api.crossref.org/works/10.1038%2FKI.1997.140

7 January 2021

MITOCHONDRIAL DNA DELETION IN PEARSON'S MARROW/PANCREAS SYNDROME

1 reference

https://api.crossref.org/works/10.1038%2FKI.1997.140

7 January 2021

Site-specific deletions of the mitochondrial genome in the Pearson marrow-pancreas syndrome

1 reference

https://api.crossref.org/works/10.1038%2FKI.1997.140

7 January 2021

Progressive increase of the mutated mitochondrial DNA fraction in Kearns-Sayre syndrome

1 reference

https://api.crossref.org/works/10.1038%2FKI.1997.140

7 January 2021

Duplications of mitochondrial DNA in mitochondrial myopathy

1 reference

https://api.crossref.org/works/10.1038%2FKI.1997.140

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/10.1038%2FKI.1997.140

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FKI.1997.140

7 January 2021

Therapy of mitochondrial disorders

1 reference

https://api.crossref.org/works/10.1038%2FKI.1997.140

7 January 2021

Ubidecarenone in the treatment of mitochondrial myopathies: a multi-center double-blind trial.

1 reference

https://api.crossref.org/works/10.1038%2FKI.1997.140

7 January 2021

Treatment of mitochondrial myopathy due to complex III deficiency with vitamins K3 and C: A 31P-NMR follow-up study

1 reference

https://api.crossref.org/works/10.1038%2FKI.1997.140

7 January 2021