Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Journal of neurology - 1 Jan 2008

Liguori Maria, La Russa Antonella, Manna Ida, Andreoli Virginia, Caracciolo Manuela, Spadafora Patrizia, Cittadella Rita, Quattrone Aldo

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Ataxia
Share to Energy Metabolism
Share to GTP Phosphohydrolases
Share to Hearing Loss, Sensorineural

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mitochondrial Diseases

Share to Muscle Weakness

Share to Optic Atrophy, Autosomal Dominant

Share to Syndrome

Source

Identifiers

PMID: 18204809
DOI: 10.1007/s00415-008-0571-x

Genes

OPA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A phenotypic variation of dominant optic atrophy and deafness (ADOAD) due to a novel OPA1 mutation.PMID 18204809Read ↗

A novel mutation of the OPA1 gene in a Japanese patient with autosomal dominant optic atrophy.Semantic proximity Read ↗

Heterozygous type 1 Autosomal Dominant Optic Atrophy (ADOA) with OPA1 c.1936-2A>G genetic variant.Semantic proximity Read ↗

Dominant optic atrophy: novel OPA1 mutations and revised prevalence estimates.Semantic proximity Read ↗

Optic atrophy and sensorineural hearing loss in a family caused by an R445H OPA1 mutation.Semantic proximity Read ↗

Meta-analysis of genotype-phenotype analysis of OPA1 mutations in autosomal dominant optic atrophy.Semantic proximity Read ↗

A novel OPA1 mutation causing variable age of onset autosomal dominant optic atrophy plus in an Australian family.Semantic proximity Read ↗

Novel mutations in the OPA1 gene and associated clinical features in Japanese patients with optic atrophy.Semantic proximity Read ↗

Clinical and genetic features of eight Chinese autosomal-dominant optic atrophy pedigrees with six novel OPA1 pathogenic variants.Semantic proximity Read ↗

Autosomal dominant optic atrophy caused by six novel pathogenic OPA1 variants and genotype-phenotype correlation analysis.Semantic proximity Read ↗

Deletion of the OPA1 gene in a dominant optic atrophy family: evidence that haploinsufficiency is the cause of disease.Semantic proximity Read ↗

A novel OPA1 mutation responsible for autosomal dominant optic atrophy with high frequency hearing loss in a Chinese family.Semantic proximity Read ↗

OPA1 Dominant Optic Atrophy: Pathogenesis and Therapeutic Targets.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.