(Q50453666)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18204809%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

title

A phenotypic variation of dominant optic atrophy and deafness (ADOAD) due to a novel OPA1 mutation (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18204809%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

1 reference

1 reference

1

1 reference

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1 January 2020

Ida Manna

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18204809%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

Aldo Quattrone

8

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1 January 2020

author name string

Antonella La Russa

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18204809%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

Virginia Andreoli

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18204809%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

Manuela Caracciolo

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18204809%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

Patrizia Spadafora

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18204809%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

Rita Cittadella

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18204809%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

publication date

22 January 2008

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1 January 2020

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18204809%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

volume

255

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1 January 2020

issue

1

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1 January 2020

page(s)

127-129

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18204809%20AND%20SRC:MED&resulttype=core&format=json

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

1 January 2020

cites work

1 reference

12 December 2020

Structural model of the OPA1 GTPase domain may explain the molecular consequences of a novel mutation in a family with autosomal dominant optic atrophy

1 reference

12 December 2020

Dominant optic atrophy: correlation between clinical and molecular genetic studies.

1 reference

12 December 2020

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

1 reference

12 December 2020

eOPA1: an online database for OPA1 mutations

1 reference

12 December 2020

Dominant optic atrophy mapped to chromosome 3q region. II. Clinical and epidemiological aspects

1 reference

12 December 2020

Dominant optic atrophy, sensorineural hearing loss, ptosis, and ophthalmoplegia: a syndrome caused by a missense mutation in OPA1.

1 reference

12 December 2020

OPA1 controls apoptotic cristae remodeling independently from mitochondrial fusion

1 reference

12 December 2020

OPA1 R445H mutation in optic atrophy associated with sensorineural deafness.

1 reference

12 December 2020

Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy

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12 December 2020

10.1007/S00415-008-0571-X

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18204809%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

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