(Q71853045)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7603534%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

title

Leber's hereditary optic neuropathy among Japanese (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7603534%20AND%20SRC:MED&resulttype=core&format=json

hereditary optic neuropathy

21 October 2019

main subject

1 reference

S. Ishikawa

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7603534

8 June 2024

Y. Ichibe

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7603534

8 June 2024

J. Yokoe

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7603534

8 June 2024

M. Wakakura

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7603534

8 June 2024

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=7603534

8 June 2024

publication date

1 January 1995

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7603534%20AND%20SRC:MED&resulttype=core&format=json

full work available at URL

21 October 2019

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fmus.880181418

1 reference

https://api.crossref.org/works/10.1002/MUS.880181418

https://onlinelibrary.wiley.com/doi/full/10.1002/mus.880181418

8 June 2024

1 reference

https://api.crossref.org/works/10.1002/MUS.880181418

Muscle & nerve. Supplement

8 June 2024

published in

volume

3

page(s)

S85-9

publication date

1995

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=7603534

8 June 2024

volume

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7603534%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

page(s)

S85-9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7603534%20AND%20SRC:MED&resulttype=core&format=json

Sequence and organization of the human mitochondrial genome

21 October 2019

cites work

1

1 reference

https://api.crossref.org/works/10.1002/MUS.880181418

Rapid shift in genotype of human mitochondrial DNA in a family with Leber's hereditary optic neuropathy.

8 June 2024

2

1 reference

https://api.crossref.org/works/10.1002/MUS.880181418

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.

8 June 2024

3

1 reference

https://api.crossref.org/works/10.1002/MUS.880181418

Maternal inheritance of human mitochondrial DNA

8 June 2024

4

1 reference

https://api.crossref.org/works/10.1002/MUS.880181418

Genetic heterogeneity and mitochondrial DNA heteroplasmy in Leber's hereditary optic neuropathy.

8 June 2024

7

1 reference

https://api.crossref.org/works/10.1002/MUS.880181418

8 June 2024

A New Videopupillography

12

1 reference

https://api.crossref.org/works/10.1002/MUS.880181418

Leber's hereditary optic neuropathy. Clinical manifestations of the 14484 mutation

8 June 2024

13

1 reference

https://api.crossref.org/works/10.1002/MUS.880181418

Cytochrome c oxidase mutations in Leber hereditary optic neuropathy

8 June 2024

14

1 reference

https://api.crossref.org/works/10.1002/MUS.880181418

A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia

8 June 2024

15

1 reference

https://api.crossref.org/works/10.1002/MUS.880181418

Detection of the G to A mitochondrial DNA mutation at position 11778 in German families with Leber's hereditary optic neuropathy

8 June 2024

16

1 reference

https://api.crossref.org/works/10.1002/MUS.880181418

Diagnosis of Leber's hereditary optic neuropathy without neurological abnormalities

8 June 2024

17

1 reference

https://api.crossref.org/works/10.1002/MUS.880181418

Variable genotype of Leber's hereditary optic neuropathy patients.

8 June 2024

19

1 reference

https://api.crossref.org/works/10.1002/MUS.880181418

Correction of increased plasma pyruvate and plasma lactate levels using large doses of thiamine in patients with Kearns-Sayre syndrome

8 June 2024

20

1 reference

https://api.crossref.org/works/10.1002/MUS.880181418

High frequency of mutations at position 11778 in mitochondrial ND4 gene in Japanese families with Leber's hereditary optic neuropathy

8 June 2024

22

1 reference

https://api.crossref.org/works/10.1002/MUS.880181418

Leber's hereditary optic neuropathy. New genetic considerations

8 June 2024

24

1 reference

https://api.crossref.org/works/10.1002/MUS.880181418

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

8 June 2024

25

1 reference

https://api.crossref.org/works/10.1002/MUS.880181418

Long-term coenzyme Q10 therapy for a mitochondrial encephalomyopathy with cytochrome c oxidase deficiency: a 31P NMR study

8 June 2024

26

1 reference

https://api.crossref.org/works/10.1002/MUS.880181418

Treatment of Kearns-Sayre syndrome with coenzyme Q10

8 June 2024

27

1 reference

https://api.crossref.org/works/10.1002/MUS.880181418

MELAS syndrome with mitochondrial tRNA(Leu)(UUR) mutation: correlation of clinical state, nerve conduction, and muscle 31P magnetic resonance spectroscopy during treatment with nicotinamide and riboflavin

8 June 2024

28

1 reference

https://api.crossref.org/works/10.1002/MUS.880181418

Analysis of mitochondrial DNA in Leber's hereditary optic neuropathy

8 June 2024

29

1 reference

https://api.crossref.org/works/10.1002/MUS.880181418

Spontaneous Kearns-Sayre/chronic external ophthalmoplegia plus syndrome associated with a mitochondrial DNA deletion: a slip-replication model and metabolic therapy

8 June 2024

31

1 reference

https://api.crossref.org/works/10.1002/MUS.880181418

Heteroplasmy in Leber's hereditary optic neuropathy

8 June 2024

32

1 reference

https://api.crossref.org/works/10.1002/MUS.880181418

Mitochondrial genetics: a paradigm for aging and degenerative diseases?

8 June 2024

38

1 reference

https://api.crossref.org/works/10.1002/MUS.880181418

Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

8 June 2024

39

1 reference

https://api.crossref.org/works/10.1002/MUS.880181418

Leber's hereditary optic atrophy: some clinical and aetiological considerations.

8 June 2024

40

1 reference

https://api.crossref.org/works/10.1002/MUS.880181418

Ageing-associated 5 kb deletion in human liver mitochondrial DNA.

8 June 2024

42

1 reference

https://api.crossref.org/works/10.1002/MUS.880181418

8 June 2024

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7603534%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

1 reference