(Q52566876)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9831004%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

title

Childhood Leber's hereditary optic neuropathy (ND1/3460) with visual recovery (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9831004%20AND%20SRC:MED&resulttype=core&format=json

hereditary optic neuropathy

6 December 2019

main subject

1 reference

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9831004%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

Valerio Carelli

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9831004%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

author name string

P P Pezzi

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9831004%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

A M De Negri

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9831004%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

F Sadun

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9831004%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

publication date

1 October 1998

1 reference

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6 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9831004%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

volume

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9831004%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

issue

4

1 reference

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6 December 2019

page(s)

308-312

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9831004%20AND%20SRC:MED&resulttype=core&format=json

MtDNA mutations associated with Leber's hereditary optic neuropathy: studies on cytoplasmic hybrid (cybrid) cells.

6 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2898%2900060-5

7 January 2021

Efficient selection and characterization of mutants of a human cell line which are defective in mitochondrial DNA-encoded subunits of respiratory NADH dehydrogenase

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2898%2900060-5

7 January 2021

Electron transfer properties of NADH:ubiquinone reductase in the ND1/3460 and the ND4/11778 mutations of the Leber hereditary optic neuroretinopathy (LHON)

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2898%2900060-5

7 January 2021

Platelet mitochondrial function in Leber's hereditary optic neuropathy

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2898%2900060-5

7 January 2021

Leber's hereditary optic neuropathy: biochemical effect of 11778/ND4 and 3460/ND1 mutations and correlation with the mitochondrial genotype.

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2898%2900060-5

7 January 2021

The mitochondrial DNA mutation ND6*14,484C associated with leber hereditary optic neuropathy, leads to deficiency of complex I of the respiratory chain

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2898%2900060-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2898%2900060-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2898%2900060-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2898%2900060-5

7 January 2021

Three subgroups of patients from the United Kingdom with Leber hereditary optic neuropathy

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2898%2900060-5

7 January 2021

The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2898%2900060-5

7 January 2021

Ophthalmologic findings in Leber hereditary optic neuropathy, with special reference to mtDNA mutations

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2898%2900060-5

7 January 2021

Mitochondrial DNA mutation in an Italian family with Leber hereditary optic neuropathy

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2898%2900060-5

7 January 2021

No genetic differences between affected and unaffected members of a German family with Leber's hereditary optic neuropathy (LHON) with respect to ten mtDNA point mutations associated with LHON

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2898%2900060-5

7 January 2021

Functional alterations of the mitochondrially encoded ND4 subunit associated with Leber's hereditary optic neuropathy.

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2898%2900060-5

7 January 2021

10.1016/S0887-8994(98)00060-5

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9831004%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

1 reference