(Q30584659)

18 October 2017

Pure and syndromic optic atrophy explained by deep intronic OPA1 mutations and an intralocus modifier (English)

1 reference

18 October 2017

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15

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Ludger Schöls

16

object named as

Ludger Schöls

1 reference

18 October 2017

18

Matthis Synofzik

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Valerio Carelli

object named as

Valerio Carelli

10

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Rebecca Schüle

14

object named as

Rebecca Schüle

1 reference

18 October 2017

17

Bernd Wissinger

1 reference

18 October 2017

Tobias Bonifert

1

1 reference

18 October 2017

Kathrin N Karle

2

1 reference

18 October 2017

Felix Tonagel

3

1 reference

18 October 2017

Marion Batra

4

1 reference

18 October 2017

Christian Wilhelm

5

1 reference

18 October 2017

Yvonne Theurer

6

1 reference

18 October 2017

Caroline Schoenfeld

7

1 reference

18 October 2017

Torsten Kluba

8

1 reference

18 October 2017

York Kamenisch

9

1 reference

18 October 2017

Julia Wolf

11

1 reference

18 October 2017

Michael A Gonzalez

12

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18 October 2017

Fiorella Speziani

13

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18 October 2017

language of work or name

English

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publication date

25 June 2014

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18 October 2017

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18 October 2017

137

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18 October 2017

Pt 8

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18 October 2017

2164-2177

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GEnomes Management Application (GEM.app): a new software tool for large-scale collaborative genome analysis

18 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4107747

Deep-intronic ATM mutation detected by genomic resequencing and corrected in vitro by antisense morpholino oligonucleotide (AMO).

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4107747

An integrated map of genetic variation from 1,092 human genomes

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4107747

G domain dimerization controls dynamin's assembly-stimulated GTPase activity

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4107747

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4107747

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4107747

Mitochondrial DNA haplogroups M7b1'2 and M8a affect clinical expression of leber hereditary optic neuropathy in Chinese families with the m.11778G-->a mutation

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4107747

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4107747

Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4107747

Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4107747

The birth of an alternatively spliced exon: 3' splice-site selection in Alu exons

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4107747

Causes of blindness in the adult population of the Republic of Ireland

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4107747

OPA1 R445H mutation in optic atrophy associated with sensorineural deafness.

28 July 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWU165

Autosomal Dominant Optic Atrophy: Penetrance and Expressivity in Patients With OPA1 Mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWU165

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWU165

Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWU165

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWU165

Prion mutation D178N with highly variable disease onset and phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWU165

The human G93A SOD1 phenotype closely resembles sporadic amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWU165

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWU165

OPA1 mutations associated with dominant optic atrophy impair oxidative phosphorylation and mitochondrial fusion

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWU165

Evidence for a Novel X-Linked Modifier Locus for Leber Hereditary Optic Neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWU165

Alu-element insertion in an OPA1 intron sequence associated with autosomal dominant optic atrophy

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4107747

The penetrance of dominant erythropoietic protoporphyria is modulated by expression of wildtype FECH

26 November 2018

1 reference

12 December 2020

Effects of OPA1 mutations on mitochondrial morphology and apoptosis: relevance to ADOA pathogenesis

1 reference

12 December 2020

Spastic paraplegia, optic atrophy, and neuropathy: new observations, locus refinement, and exclusion of candidate genes

1 reference

12 December 2020

Early-onset severe neuromuscular phenotype associated with compound heterozygosity for OPA1 mutations

1 reference

12 December 2020

Identifiers

DOI

10.1093/BRAIN/AWU165

1 reference

18 October 2017

1 reference

18 October 2017

1 reference