WFS1-Associated Optic Neuropathy: Genotype-Phenotype Correlations and Disease Progression-Reference-Cited by-同舟云学术

WFS1-Associated Optic Neuropathy: Genotype-Phenotype Correlations and Disease Progression

Published:2022-09 Issue: Volume:241 Page:9-27
ISSN:0002-9394
Container-title:American Journal of Ophthalmology
language:en
Short-container-title:American Journal of Ophthalmology

Author:

Majander Anna^ORCID,Jurkute Neringa,Burté Florence^ORCID,Brock Kristian,João Catarina,Huang Houbin,Neveu Magella M.,Chan Choi Mun,Duncan Holly J.,Kelly Simon,Burkitt-Wright Emma,Khoyratty Fadil,Lai Yoon Tse^ORCID,Subash Mala,Chinnery Patrick F.,Bitner-Glindzicz Maria,Arno Gavin^ORCID,Webster Andrew R.^ORCID,Moore Anthony T.,Michaelides Michel,Stockman Andrew,Robson Anthony G.^ORCID,Yu-Wai-Man Patrick^ORCID

Publisher

Elsevier BV

Subject

Ophthalmology

Reference55 articles.

1. WFS1 (Wolfram syndrome1) gene product: predominant subcellular localization to endoplasmic reticulum in cultured cells and neuronal expression in rat brain;Takeda;Hum Mol Genet,2001

2. Expression of the diabetes risk gene Wolframin (WFS1) in the human retina;Schmidt-Kastner;Exp Eye Res,2009

3. Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome;Barrett;Lancet,1995

4. Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein;Strom;Hum Mol Genet,1998

5. Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene;Eiberg;J Med Genet,2006

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