(Q39364834)

English

Isolated late-onset cone-rod dystrophy revealing a familial neurogenic muscle weakness, ataxia, and retinitis pigmentosa syndrome with the T8993G mitochondrial mutation.

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11730668%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

Isolated late-onset cone-rod dystrophy revealing a familial neurogenic muscle weakness, ataxia, and retinitis pigmentosa syndrome with the T8993G mitochondrial mutation (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11730668%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

cone-rod dystrophy

1 reference

based on heuristic

inferred from title

retinitis pigmentosa

1 reference

based on heuristic

inferred from title

muscle weakness

1 reference

based on heuristic

inferred from title

José-Alain Sahel

6

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11730668%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

1

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11730668%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

author name string

G Mack

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11730668%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

M J Sterboul

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11730668%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

P Lewin

4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11730668%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

J Flament

5

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11730668%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

H Dollfus

7

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11730668%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

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publication date

1 December 2001

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11730668%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

American Journal of Ophthalmology

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11730668%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

132

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11730668%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

6

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11730668%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

935-937

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11730668%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

Variable retinal and neurologic manifestations in patients harboring the mitochondrial DNA 8993 mutation

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2801%2901187-4

7 January 2021

Cone and rod dysfunction in the NARP syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2801%2901187-4

7 January 2021

Correlation between the Clinical Symptoms and the Proportion of Mitochondrial DNA Carrying the 8993 Point Mutation in the NARP Syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2801%2901187-4

7 January 2021

Genetic counseling and prenatal diagnosis for the mitochondrial DNA mutations at nucleotide 8993

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2801%2901187-4

7 January 2021

Identifiers

10.1016/S0002-9394(01)01187-4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11730668%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11730668%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

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