(Q40437309)

20 September 2017

1 reference

title

mtDNA mutations in Leber's hereditary optic neuropathy (English)

1 reference

20 September 2017

M. L. Savontaus

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7599218

5 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=7599218

5 June 2024

publication date

1 May 1995

1 reference

20 September 2017

24 May 1995

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=7599218

full work available at URL

5 June 2024

https://doi.org/10.1016/0925-4439(95)00037-5

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7599218

https://api.elsevier.com/content/article/PII:0925443995000375?httpAccept=text/xml

5 June 2024

1 reference

https://api.crossref.org/works/10.1016/0925-4439(95)00037-5

https://api.elsevier.com/content/article/PII:0925443995000375?httpAccept=text/plain

5 June 2024

1 reference

https://api.crossref.org/works/10.1016/0925-4439(95)00037-5

Biochimica et Biophysica Acta

5 June 2024

published in

1 reference

20 September 2017

volume

1271

1 reference

20 September 2017

issue

1

1 reference

20 September 2017

page(s)

261-263

1 reference

Leber's hereditary optic neuroretinopathy, a maternally inherited disease. A genealogic study in four pedigrees

20 September 2017

cites work

1

1 reference

https://api.crossref.org/works/10.1016/0925-4439(95)00037-5

Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

5 June 2024

2

1 reference

https://api.crossref.org/works/10.1016/0925-4439(95)00037-5

Analysis of mitochondrial DNA in Leber's hereditary optic neuropathy

5 June 2024

4

1 reference

https://api.crossref.org/works/10.1016/0925-4439(95)00037-5

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

5 June 2024

5

1 reference

https://api.crossref.org/works/10.1016/0925-4439(95)00037-5

Clinical neuroscience (New York, N.Y.)

5 June 2024

6

2

115

Nikoskelainen

1994

1 reference

https://api.crossref.org/works/10.1016/0925-4439(95)00037-5

An atypical Leber's hereditary optic neuropathy with the 11778 mutation

5 June 2024

7

1 reference

https://api.crossref.org/works/10.1016/0925-4439(95)00037-5

Leber's hereditary optic neuropathy. Clinical manifestations of the 3460 mutation

5 June 2024

11

1 reference

https://api.crossref.org/works/10.1016/0925-4439(95)00037-5

An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy

5 June 2024

12

1 reference

https://api.crossref.org/works/10.1016/0925-4439(95)00037-5

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

5 June 2024

14

1 reference

https://api.crossref.org/works/10.1016/0925-4439(95)00037-5

Cytochrome c oxidase mutations in Leber hereditary optic neuropathy

5 June 2024

15

1 reference

https://api.crossref.org/works/10.1016/0925-4439(95)00037-5

Cytochrome b mutations in Leber hereditary optic neuropathy

5 June 2024

16

1 reference

https://api.crossref.org/works/10.1016/0925-4439(95)00037-5

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

5 June 2024

17

1 reference

https://api.crossref.org/works/10.1016/0925-4439(95)00037-5

The spectrum of mitochondrial DNA mutations in families with Leber hereditary optic neuroretinopathy

5 June 2024

18

1 reference

https://api.crossref.org/works/10.1016/0925-4439(95)00037-5

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

5 June 2024

20

1 reference

https://api.crossref.org/works/10.1016/0925-4439(95)00037-5

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

5 June 2024

22

1 reference

https://api.crossref.org/works/10.1016/0925-4439(95)00037-5

Heteroplasmy in Leber's hereditary optic neuropathy

5 June 2024

24

1 reference

https://api.crossref.org/works/10.1016/0925-4439(95)00037-5

Mitochondrial DNA mutation and heteroplasmy in type I Leber hereditary optic neuropathy

5 June 2024

25

1 reference

https://api.crossref.org/works/10.1016/0925-4439(95)00037-5

Quantification of mitochondrial DNA carrying the tRNA(8344Lys) point mutation in myoclonus epilepsy and ragged-red-fiber disease

5 June 2024

26

1 reference

https://api.crossref.org/works/10.1016/0925-4439(95)00037-5

Quantification of tRNA3243(Leu) point mutation of mitochondrial DNA in MELAS patients and its effects on mitochondrial transcription

5 June 2024

27

1 reference

https://api.crossref.org/works/10.1016/0925-4439(95)00037-5

Quantification of point mutations associated with Leber hereditary optic neuroretinopathy by solid-phase minisequencing

5 June 2024

28

1 reference

https://api.crossref.org/works/10.1016/0925-4439(95)00037-5

Recent advances in Leber's hereditary optic neuroretinopathy

5 June 2024

29

1 reference

https://api.crossref.org/works/10.1016/0925-4439(95)00037-5

Leber's hereditary optic neuropathy and complex I deficiency in muscle.

5 June 2024

30

1 reference

https://api.crossref.org/works/10.1016/0925-4439(95)00037-5

5 June 2024

Identifiers

1 reference

20 September 2017

1 reference