Dominant optic atrophy

10.1186/1750-1172-7-46

Saved in:

Bibliographic Details
Main Authors:	Lenaers, G, Hamel, C, Delettre, C, Amati-Bonneau, P, Procaccio, V, Bonneau, D, Reynier, P, Milea, D
Other Authors:	DUKE-NUS MEDICAL SCHOOL
Format:	Review
Published:	BMC 2020
Subjects:	OPA1 protein OPA2 protein OPA3 protein OPA4 protein OPA5 protein OPA6 protein OPA7 protein OPA8 protein protein unclassified drug alcohol consumption autosomal dominant optic atrophy autosomal recessive disorder blindness cataract color vision defect differential diagnosis disease severity electroretinogram evoked visual response eye examination gene locus gene mutation genetic counseling human molecular diagnosis multiple sclerosis myopathy nonhuman ophthalmoplegia ophthalmoscopy optic nerve optical coherence tomography oxidative phosphorylation perception deafness peripheral neuropathy photoreceptor prevalence prognosis protein expression retina ganglion cell review smoking spastic paraplegia visual acuity visual impairment Wolfram syndrome Denmark Founder Effect Humans Optic Atrophy, Autosomal Dominant Prevalence
Online Access:	https://scholarbank.nus.edu.sg/handle/10635/178146
Tags:	Add Tag No Tags, Be the first to tag this record!
Institution:	National University of Singapore

id	sg-nus-scholar.10635-178146
record_format	dspace
spelling	sg-nus-scholar.10635-1781462024-11-12T07:58:38Z Dominant optic atrophy Lenaers, G Hamel, C Delettre, C Amati-Bonneau, P Procaccio, V Bonneau, D Reynier, P Milea, D DUKE-NUS MEDICAL SCHOOL OPA1 protein OPA2 protein OPA3 protein OPA4 protein OPA5 protein OPA6 protein OPA7 protein OPA8 protein protein unclassified drug alcohol consumption autosomal dominant optic atrophy autosomal recessive disorder blindness cataract color vision defect differential diagnosis disease severity electroretinogram evoked visual response eye examination gene locus gene mutation genetic counseling human molecular diagnosis multiple sclerosis myopathy nonhuman ophthalmoplegia ophthalmoscopy optic nerve optical coherence tomography oxidative phosphorylation perception deafness peripheral neuropathy photoreceptor prevalence prognosis protein expression retina ganglion cell review smoking spastic paraplegia visual acuity visual impairment Wolfram syndrome Denmark Founder Effect Humans Optic Atrophy, Autosomal Dominant Prevalence 10.1186/1750-1172-7-46 Orphanet Journal of Rare Diseases 7 1 46 2020-10-20T08:06:15Z 2020-10-20T08:06:15Z 2012 Review Lenaers, G, Hamel, C, Delettre, C, Amati-Bonneau, P, Procaccio, V, Bonneau, D, Reynier, P, Milea, D (2012). Dominant optic atrophy. Orphanet Journal of Rare Diseases 7 (1) : 46. ScholarBank@NUS Repository. https://doi.org/10.1186/1750-1172-7-46 1750-1172 https://scholarbank.nus.edu.sg/handle/10635/178146 Attribution 4.0 International http://creativecommons.org/licenses/by/4.0/ BMC Unpaywall 20201031
institution	National University of Singapore
building	NUS Library
continent	Asia
country	Singapore Singapore
content_provider	NUS Library
collection	ScholarBank@NUS
topic	OPA1 protein OPA2 protein OPA3 protein OPA4 protein OPA5 protein OPA6 protein OPA7 protein OPA8 protein protein unclassified drug alcohol consumption autosomal dominant optic atrophy autosomal recessive disorder blindness cataract color vision defect differential diagnosis disease severity electroretinogram evoked visual response eye examination gene locus gene mutation genetic counseling human molecular diagnosis multiple sclerosis myopathy nonhuman ophthalmoplegia ophthalmoscopy optic nerve optical coherence tomography oxidative phosphorylation perception deafness peripheral neuropathy photoreceptor prevalence prognosis protein expression retina ganglion cell review smoking spastic paraplegia visual acuity visual impairment Wolfram syndrome Denmark Founder Effect Humans Optic Atrophy, Autosomal Dominant Prevalence
spellingShingle	OPA1 protein OPA2 protein OPA3 protein OPA4 protein OPA5 protein OPA6 protein OPA7 protein OPA8 protein protein unclassified drug alcohol consumption autosomal dominant optic atrophy autosomal recessive disorder blindness cataract color vision defect differential diagnosis disease severity electroretinogram evoked visual response eye examination gene locus gene mutation genetic counseling human molecular diagnosis multiple sclerosis myopathy nonhuman ophthalmoplegia ophthalmoscopy optic nerve optical coherence tomography oxidative phosphorylation perception deafness peripheral neuropathy photoreceptor prevalence prognosis protein expression retina ganglion cell review smoking spastic paraplegia visual acuity visual impairment Wolfram syndrome Denmark Founder Effect Humans Optic Atrophy, Autosomal Dominant Prevalence Lenaers, G Hamel, C Delettre, C Amati-Bonneau, P Procaccio, V Bonneau, D Reynier, P Milea, D Dominant optic atrophy
description	10.1186/1750-1172-7-46
author2	DUKE-NUS MEDICAL SCHOOL
author_facet	DUKE-NUS MEDICAL SCHOOL Lenaers, G Hamel, C Delettre, C Amati-Bonneau, P Procaccio, V Bonneau, D Reynier, P Milea, D
format	Review
author	Lenaers, G Hamel, C Delettre, C Amati-Bonneau, P Procaccio, V Bonneau, D Reynier, P Milea, D
author_sort	Lenaers, G
title	Dominant optic atrophy
title_short	Dominant optic atrophy
title_full	Dominant optic atrophy
title_fullStr	Dominant optic atrophy
title_full_unstemmed	Dominant optic atrophy
title_sort	dominant optic atrophy
publisher	BMC
publishDate	2020
url	https://scholarbank.nus.edu.sg/handle/10635/178146
_version_	1821214397400350720

Dominant optic atrophy

Similar Items