(Q35848671)

10 August 2017

1 reference

title

Diseases resulting from mitochondrial DNA point mutations (English)

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10 August 2017

0 references

D. C. Wallace

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1528007

5 October 2022

M. T. Lott

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1528007

5 October 2022

J. M. Shoffner

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1528007

5 October 2022

M. D. Brown

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1528007

5 October 2022

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1528007

5 October 2022

publication date

1 January 1992

1 reference

Journal of Inherited Metabolic Disease

10 August 2017

1 reference

10 August 2017

15

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10 August 2017

472-479

1 reference

10 August 2017

4

1 reference

https://scigraph.springernature.com/pub.10.1007/bf01799605

10 August 2017

0 references

cites work

Hypoxemia is associated with mitochondrial DNA damage and gene induction. Implications for cardiac disease

1 reference

12 December 2020

Mitochondrial oxidative phosphorylation defects in Parkinson's disease

1 reference

12 December 2020

Familial mitochondrial encephalomyopathy (MERRF): genetic, pathophysiological, and biochemical characterization of a mitochondrial DNA disease

1 reference

12 December 2020

Sequence and organization of the human mitochondrial genome

1 reference

12 December 2020

Deficiencies in complex I subunits of the respiratory chain in Parkinson's disease

1 reference

12 December 2020

Impairment of mitochondrial transcription termination by a point mutation associated with the MELAS subgroup of mitochondrial encephalomyopathies

1 reference

12 December 2020

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

1 reference

12 December 2020

Heteroplasmic mtDNA mutation (T----G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high

1 reference

12 December 2020

Cytochrome oxidase deficiency in Alzheimer's disease

1 reference

12 December 2020

Leber hereditary optic neuropathy: involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutation

1 reference

12 December 2020

Mitochondrial mutation in fatal infantile cardiomyopathy

1 reference

12 December 2020

Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy

1 reference

12 December 2020

Mitochondrial encephalopathies: molecular genetic diagnosis from blood samples

1 reference

12 December 2020

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

1 reference

12 December 2020

Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

1 reference

12 December 2020

A new mitochondrial disease associated with mitochondrial DNA heteroplasmy

1 reference

12 December 2020

Respiratory chain abnormalities in skeletal muscle from patients with Parkinson's disease.

1 reference

12 December 2020

Rapid detection of the A----G(8344) mutation of mtDNA in Italian families with myoclonus epilepsy and ragged-red fibers (MERRF).

1 reference

12 December 2020

Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy

1 reference

12 December 2020

Oxidative phosphorylation diseases. Disorders of two genomes

1 reference

12 December 2020

Maternal inheritance of human mitochondrial DNA

1 reference

12 December 2020

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

1 reference

12 December 2020

A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy

1 reference

12 December 2020

Detection of a specific mitochondrial DNA deletion in tissues of older humans

1 reference

12 December 2020

Mitochondrial complex I deficiency in Parkinson's disease

1 reference

12 December 2020

Diseases of the mitochondrial DNA.

1 reference

12 December 2020

Rapid evolution of animal mitochondrial DNA

1 reference

12 December 2020

Studies of sequence heterogeneity of mitochondrial DNA from rat and mouse tissues: evidence for an increased frequency of deletions/additions with aging.

1 reference

12 December 2020

Mitochondrial DNA in anucleate human blood cells

1 reference

12 December 2020

Computer prediction of peptide maps: assignment of polypeptides to human and mouse mitochondrial DNA genes by analysis of two-dimensional-proteolytic digest gels

1 reference

12 December 2020

Mitochondrial tRNA(thr) mutation in fatal infantile respiratory enzyme deficiency

1 reference

12 December 2020

Mutations in mitochondrial tRNA genes: a frequent cause of neuromuscular diseases

1 reference

12 December 2020

Subacute necrotizing encephalopathy: oxidative phosphorylation defects and the ATPase 6 point mutation

1 reference

12 December 2020

Paternal inheritance of mitochondrial DNA in mice

1 reference

12 December 2020

Abnormalities of the electron transport chain in idiopathic Parkinson's disease

1 reference

12 December 2020

Mitochondrial complex I deficiency in Parkinson's disease

1 reference

12 December 2020

The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy with the 11778 mutation.

1 reference

12 December 2020

Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees

1 reference

12 December 2020

Liver mitochondrial respiratory functions decline with age

1 reference

12 December 2020

DECLINE IN SKELETAL MUSCLE MITOCHONDRIAL RESPIRATORY CHAIN FUNCTION: POSSIBLE FACTOR IN AGEING

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF01799605

1 reference

10 August 2017

1 reference