Multi-system neurological disease is common in patients with OPA1 mutations (Q24619312)

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18 January 2020

title

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

1 reference

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18 January 2020

3

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18 January 2020

Maria Lucia Valentino

9

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18 January 2020

Leonardo Caporali

10

1 reference

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18 January 2020

Roger Whittaker

15

1 reference

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18 January 2020

Mark R Baker

16

1 reference

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18 January 2020

Pascal Reynier

23

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18 January 2020

Dominique Bonneau

24

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18 January 2020

Guy Lenaers

26

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18 January 2020

Robert McFarland

27

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Douglass Matthew Turnbull

18 January 2020

29

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18 January 2020

Marcela Votruba

30

1 reference

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18 January 2020

Valerio Carelli

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18 January 2020

Laurence Bindoff

33

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18 January 2020

Rita Horvath

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18 January 2020

36

P F Chinnery

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18 January 2020

1

P Yu-Wai-Man

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18 January 2020

22

G Hudson

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18 January 2020

author name string

P G Griffiths

2

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18 January 2020

C M Lourenco

4

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18 January 2020

A F Wright

5

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18 January 2020

M Auer-Grumbach

6

1 reference

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18 January 2020

A Toscano

7

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18 January 2020

O Musumeci

8

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18 January 2020

C Lamperti

11

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18 January 2020

C M Tallaksen

12

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18 January 2020

P Duffey

13

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18 January 2020

J Miller

14

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18 January 2020

M J Jackson

17

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18 January 2020

M P Clarke

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18 January 2020

B Dhillon

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18 January 2020

B Czermin

20

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18 January 2020

J D Stewart

21

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18 January 2020

W Marques

25

1 reference

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18 January 2020

R W Taylor

28

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18 January 2020

M Zeviani

31

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18 January 2020

P Amati-Bonneau

35

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18 January 2020

language of work or name

English

0 references

publication date

15 February 2010

1 reference

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18 January 2020

1 reference

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18 January 2020

volume

133

1 reference

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18 January 2020

issue

Pt 3

1 reference

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18 January 2020

page(s)

771-786

1 reference

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

18 January 2020

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OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28

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

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Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy

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Secondary mtDNA defects do not cause optic nerve dysfunction in a mouse model of dominant optic atrophy

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

27 September 2017

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27 September 2017

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21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842512

Autosomal dominant optic atrophy. A spectrum of disability.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842512

Multiple sclerosis-like disorder in OPA1-related autosomal dominant optic atrophy

28 November 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/20157015

12 December 2020

Reversible optic neuropathy with OPA1 exon 5b mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/20157015

12 December 2020

OPA1 IN MULTIPLE MITOCHONDRIAL DNA DELETION DISORDERS

1 reference

https://pubmed.ncbi.nlm.nih.gov/20157015

12 December 2020

Visual acuities "hand motion" and "counting fingers" can be quantified with the freiburg visual acuity test

1 reference

https://pubmed.ncbi.nlm.nih.gov/20157015

12 December 2020

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20157015

12 December 2020

Effects of physical activity and age on mitochondrial function

1 reference

https://pubmed.ncbi.nlm.nih.gov/20157015

12 December 2020

Hereditary optic neuropathies

1 reference

https://pubmed.ncbi.nlm.nih.gov/20157015

12 December 2020

Optic atrophy and sensorineural hearing loss in a family caused by an R445H OPA1 mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/20157015

12 December 2020

OPA1 alternate splicing uncouples an evolutionary conserved function in mitochondrial fusion from a vertebrate restricted function in apoptosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/20157015

12 December 2020

Identifiers

DOI

10.1093/BRAIN/AWQ007

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20157015%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20157015%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

PubMed publication ID

20157015

2 references