Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy (Q28140286)

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31 October 2019

title

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

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31 October 2019

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31 October 2019

Pascale Belenguer

6

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31 October 2019

Bernard Ducommun

14

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31 October 2019

author name string

Delettre C

1

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31 October 2019

Griffoin JM

3

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31 October 2019

Gigarel N

4

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31 October 2019

Lorenzo C

5

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31 October 2019

Pelloquin L

7

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31 October 2019

Grosgeorge J

8

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31 October 2019

Turc-Carel C

9

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31 October 2019

Perret E

10

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31 October 2019

Astarie-Dequeker C

11

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31 October 2019

Lasquellec L

12

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31 October 2019

Arnaud B

13

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31 October 2019

Kaplan J

15

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31 October 2019

Hamel CP

16

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31 October 2019

language of work or name

English

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publication date

1 October 2000

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31 October 2019

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31 October 2019

volume

26

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31 October 2019

issue

2

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31 October 2019

page(s)

207-210

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Dominant optic atrophy. Refining the clinical diagnostic criteria in light of genetic linkage studies

31 October 2019

cites work

1 reference

https://api.crossref.org/works/10.1038/79936

A human dynamin-related protein controls the distribution of mitochondria

21 April 2017

1 reference

https://api.crossref.org/works/10.1038/79936

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

21 April 2017

1 reference

7 January 2021

Visual prognosis in autosomal dominant optic atrophy (Kjer type)

1 reference

7 January 2021

Diagnostic criteria in cominantly inherited juvenile optic atrophy. A report of three new families

1 reference

7 January 2021

Autosomal dominant optic atrophy. A spectrum of disability.

1 reference

7 January 2021

Diagnosis of dominant infantile optic atrophy in early childhood

1 reference

7 January 2021

Clinical features, molecular genetics, and pathophysiology of dominant optic atrophy

1 reference

7 January 2021

A Clinicopathologic Study of Autosomal Dominant Optic Atrophy

1 reference

7 January 2021

Histopathology of eye, optic nerve and brain in a case of dominant optic atrophy

1 reference

7 January 2021

Leber hereditary optic neuropathy. Electron microscopy and molecular genetic analysis of a case

1 reference

7 January 2021

Leber hereditary optic neuropathy: how do mitochondrial DNA mutations cause degeneration of the optic nerve?

1 reference

7 January 2021

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

1 reference

7 January 2021

No evidence of genetic heterogeneity in dominant optic atrophy

1 reference

7 January 2021

Genetic refinement of dominant optic atrophy (OPA1) locus to within a 2 cM interval of chromosome 3q

1 reference

7 January 2021

Clinical and genetic analysis of a family affected with dominant optic atrophy (OPA1)

1 reference

7 January 2021

Dominant optic atrophy, Kjer type. Linkage analysis and clinical features in a large British pedigree

1 reference

7 January 2021

Demonstration of a founder effect and fine mapping of dominant optic atrophy locus on 3q28-qter by linkage disequilibrium method: a study of 38 British Isles pedigrees

1 reference

7 January 2021

Identification of a fission yeast dynamin-related protein involved in mitochondrial DNA maintenance.

1 reference

7 January 2021

Mitochondrial DNA maintenance in yeast requires a protein containing a region related to the GTP-binding domain of dynamin

1 reference

7 January 2021

Functional diversity in the dynamin family

1 reference

7 January 2021

Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro

1 reference

7 January 2021

Linkage studies in dominant optic atrophy, Kjer type: possible evidence for heterogeneity

1 reference

7 January 2021

Genetic heterogeneity of dominant optic atrophy, Kjer type: Identification of a second locus on chromosome 18q12.2-12.3.

1 reference

7 January 2021

A simple salting out procedure for extracting DNA from human nucleated cells

1 reference

7 January 2021

Annexin 3 is associated with cytoplasmic granules in neutrophils and monocytes and translocates to the plasma membrane in activated cells

1 reference

7 January 2021

Identifiers

DOI

10.1038/79936

2 references

Consolidated OpenCitations Corpus – April 2017

1859612

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31 October 2019

1859612

1 reference

Consolidated OpenCitations Corpus – April 2017

Consolidated OpenCitations Corpus – April 2017

2 references

1859612

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