(Q46838221)

English

A novel mutation producing premature termination codon at the OPA1 gene causes autosomal dominant optic atrophy

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

25 December 2017

http://europepmc.org/abstract/MED/16331355

A novel mutation producing premature termination codon at the OPA1 gene causes autosomal dominant optic atrophy (English)

1 reference

Europe PubMed Central

PubMed publication ID

25 December 2017

http://europepmc.org/abstract/MED/16331355

autosomal dominant optic atrophy

0 references

author name string

Elena Cardaioli

1

1 reference

Europe PubMed Central

PubMed publication ID

25 December 2017

http://europepmc.org/abstract/MED/16331355

Gian Nicola Gallus

2

1 reference

Europe PubMed Central

PubMed publication ID

25 December 2017

http://europepmc.org/abstract/MED/16331355

Paola Da Pozzo

3

1 reference

Europe PubMed Central

PubMed publication ID

25 December 2017

http://europepmc.org/abstract/MED/16331355

Alessandra Rufa

4

1 reference

Europe PubMed Central

PubMed publication ID

25 December 2017

http://europepmc.org/abstract/MED/16331355

Rossella Franceschini

5

1 reference

Europe PubMed Central

PubMed publication ID

25 December 2017

http://europepmc.org/abstract/MED/16331355

Eduardo Motolese

6

1 reference

Europe PubMed Central

PubMed publication ID

25 December 2017

http://europepmc.org/abstract/MED/16331355

Aldo Caporossi

7

1 reference

Europe PubMed Central

PubMed publication ID

25 December 2017

http://europepmc.org/abstract/MED/16331355

Maria T Dotti

8

1 reference

Europe PubMed Central

PubMed publication ID

25 December 2017

http://europepmc.org/abstract/MED/16331355

Antonio Federico

9

1 reference

Europe PubMed Central

PubMed publication ID

25 December 2017

http://europepmc.org/abstract/MED/16331355

publication date

12 December 2005

1 reference

Europe PubMed Central

PubMed publication ID

25 December 2017

http://europepmc.org/abstract/MED/16331355

Journal of Neurology

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Europe PubMed Central

PubMed publication ID

25 December 2017

http://europepmc.org/abstract/MED/16331355

253

1 reference

Europe PubMed Central

PubMed publication ID

25 December 2017

http://europepmc.org/abstract/MED/16331355

5

1 reference

Europe PubMed Central

PubMed publication ID

25 December 2017

http://europepmc.org/abstract/MED/16331355

672-673

1 reference

Europe PubMed Central

PubMed publication ID

25 December 2017

http://europepmc.org/abstract/MED/16331355

The OPA1 gene and optic neuropathy

1 reference

https://api.crossref.org/works/10.1007%2FS00415-005-0057-Z

21 January 2018

OPA1 (Kjer type) dominant optic atrophy: a novel mitochondrial disease.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16331355

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance

1 reference

https://pubmed.ncbi.nlm.nih.gov/16331355

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cell response to oxidative stress induced apoptosis in patients with Leber's hereditary optic neuropathy.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16331355

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Optic disc morphology of patients with OPA1 autosomal dominant optic atrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/16331355

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel mutation of the OPA1 gene in a Japanese family with optic atrophy type 1

1 reference

https://pubmed.ncbi.nlm.nih.gov/16331355

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutation spectrum and splicing variants in the OPA1 gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/16331355

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/16331355

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16331355

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical features in affected individuals from 21 pedigrees with dominant optic atrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/16331355

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial dysfunction as a cause of optic neuropathies

1 reference

https://pubmed.ncbi.nlm.nih.gov/16331355

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S00415-005-0057-Z

1 reference

Europe PubMed Central

PubMed publication ID

25 December 2017

http://europepmc.org/abstract/MED/16331355

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

25 December 2017

http://europepmc.org/abstract/MED/16331355

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