OPA1-related disorders: Diversity of clinical expression, modes of inheritance and pathophysiology-Reference-Cited by-同舟云学术

OPA1-related disorders: Diversity of clinical expression, modes of inheritance and pathophysiology

Published:2016-06 Issue: Volume:90 Page:20-26
ISSN:0969-9961
Container-title:Neurobiology of Disease
language:en
Short-container-title:Neurobiology of Disease

Author:

Chao de la Barca Juan Manuel,Prunier-Mirebeau Delphine,Amati-Bonneau Patrizia,Ferré Marc,Sarzi Emmanuelle,Bris Céline^ORCID,Leruez Stéphanie^ORCID,Chevrollier Arnaud,Desquiret-Dumas Valérie,Gueguen Naïg,Verny Christophe,Hamel Christian,Miléa Dan,Procaccio Vincent,Bonneau Dominique,Lenaers Guy,Reynier Pascal

Publisher

Elsevier BV

Subject

Neurology

Reference63 articles.

1. A splice site mutation in the murine Opa1 gene features pathology of autosomal dominant optic atrophy;Alavi;Brain,2007

2. Subtle neurological and metabolic abnormalities in an Opa1 mouse model of autosomal dominant optic atrophy;Alavi;Exp. Neurol.,2009

3. OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28;Alexander;Nat. Genet.,2000

4. The association of autosomal dominant optic atrophy and moderate deafness may be due to the R445H mutation in the OPA1 gene;Amati-Bonneau;Am J. Ophthalmol.,2003

5. OPA1 R445H mutation in optic atrophy associated with sensorineural deafness;Amati-Bonneau;Ann. Neurol.,2005

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