(Q46582942)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23387428%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

title

Novel OPA1 missense mutation in a family with optic atrophy and severe widespread neurological disorder (English)

1 reference

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23 February 2020

1 reference

1

1 reference

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23 February 2020

Olga Ulmanová

2

1 reference

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23 February 2020

Petr Tesina

3

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23 February 2020

Pavel Diblík

5

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23 February 2020

Markéta Tesařová

7

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23 February 2020

Marcela Votruba

8

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23 February 2020

author name string

Hana Melsova

4

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23 February 2020

Hana Hansikova

6

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23 February 2020

publication date

7 February 2013

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23 February 2020

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23387428%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

volume

91

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23 February 2020

issue

3

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23 February 2020

page(s)

e225-31

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Developmental expression profile of the optic atrophy gene product: OPA1 is not localized exclusively in the mammalian retinal ganglion cell layer

23 February 2020

cites work

1 reference

OPA1 R445H mutation in optic atrophy associated with sensorineural deafness.

21 January 2018

1 reference

OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes

21 January 2018

1 reference

OPA1 mutations associated with dominant optic atrophy influence optic nerve head size

21 January 2018

1 reference

Mitochondrial dysfunction as a cause of optic neuropathies

21 January 2018

1 reference

Cervical dystonia: disease profile and clinical management

21 January 2018

1 reference

Mutation spectrum and splicing variants in the OPA1 gene

21 January 2018

1 reference

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

21 January 2018

1 reference

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

21 January 2018

1 reference

Standardizing mutation nomenclature: why bother?

21 January 2018

1 reference

Dominant optic atrophy (OPA1) mapped to chromosome 3q region. I. Linkage analysis.

21 January 2018

1 reference

eOPA1: an online database for OPA1 mutations

21 January 2018

1 reference

Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations.

21 January 2018

1 reference

The neuro-ophthalmology of mitochondrial disease

21 January 2018

1 reference

OPA1 controls apoptotic cristae remodeling independently from mitochondrial fusion

21 January 2018

1 reference

Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance.

21 January 2018

1 reference

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

21 January 2018

1 reference

Deficit of in vivo mitochondrial ATP production in OPA1-related dominant optic atrophy

21 January 2018

1 reference

Loss of OPA1 perturbates the mitochondrial inner membrane structure and integrity, leading to cytochrome c release and apoptosis

21 January 2018

1 reference

Mitochondrial dynamics and disease, OPA1

21 January 2018

1 reference

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

21 January 2018

1 reference

Optic atrophy 1 is an A-kinase anchoring protein on lipid droplets that mediates adrenergic control of lipolysis

21 January 2018

1 reference

Down-regulation of OPA1 alters mouse mitochondrial morphology, PTP function, and cardiac adaptation to pressure overload.

21 January 2018

1 reference

Tcoffee@igs: A web server for computing, evaluating and combining multiple sequence alignments

21 January 2018

1 reference

PRALINE: a multiple sequence alignment toolbox that integrates homology-extended and secondary structure information

21 January 2018

1 reference

A novel deletion in the GTPase domain of OPA1 causes defects in mitochondrial morphology and distribution, but not in function

21 January 2018

1 reference

A review of primary hereditary optic neuropathies

21 January 2018

1 reference

Opa1 deficiency in a mouse model of dominant optic atrophy leads to retinal ganglion cell dendropathy

21 January 2018

1 reference

The prevalence and natural history of dominant optic atrophy due to OPA1 mutations

21 January 2018

1 reference

Multi-system neurological disease is common in patients with OPA1 mutations

21 January 2018

1 reference

Mitochondrial optic neuropathies - disease mechanisms and therapeutic strategies

21 January 2018

1 reference

OPA1 mutations and mitochondrial DNA damage: keeping the magic circle in shape

21 January 2018

1 reference

I-TASSER server for protein 3D structure prediction

21 January 2018

1 reference

Retinal nerve fiber layer thickness in dominant optic atrophy measurements by optical coherence tomography and correlation with age

21 January 2018

1 reference

Performance of mutation pathogenicity prediction methods on missense variants

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1111/AOS.12038

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23387428%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

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