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Literature DB >> 17296906

Catastrophic visual loss in a patient with Friedreich ataxia.

Neroli Porter¹, Susan M Downes, Carl Fratter, Philip Anslow, Andrea H Németh.

Abstract

Entities: Disease Species

Mesh：

Substances：

Year: 2007 PMID： 17296906 DOI： 10.1001/archopht.125.2.273

Source DB: PubMed Journal: Arch Ophthalmol ISSN： 0003-9950

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9 in total

1. A novel deletion-insertion mutation identified in exon 3 of FXN in two siblings with a severe Friedreich ataxia phenotype.

Authors: Marguerite V Evans-Galea; Louise A Corben; Justin Hasell; Charles A Galea; Michael C Fahey; Desirée du Sart; Martin B Delatycki
Journal: Neurogenetics Date: 2011-08-10 Impact factor: 2.660

2. Atypical, perhaps under-recognized? An unusual phenotype of Friedreich ataxia.

Authors: Beate Diehl; Michael S Lee; Janet R Reid; Craig D Nielsen; Marvin R Natowicz
Journal: Neurogenetics Date: 2010-02-17 Impact factor: 2.660

Review 3. Iron homeostasis and toxicity in retinal degeneration.

Authors: Xining He; Paul Hahn; Jared Iacovelli; Robert Wong; Chih King; Robert Bhisitkul; Mina Massaro-Giordano; Joshua L Dunaief
Journal: Prog Retin Eye Res Date: 2007-08-11 Impact factor: 21.198

4. Expanding the FDXR-Associated Disease Phenotype: Retinal Dystrophy Is a Recurrent Ocular Feature.

Authors: Neringa Jurkute; Priya D Shanmugarajah; Marios Hadjivassiliou; Jenny Higgs; Miodrag Vojcic; Iain Horrocks; Yann Nadjar; Valerie Touitou; Guy Lenaers; Roy Poh; James Acheson; Anthony G Robson; F Lucy Raymond; Mary M Reilly; Patrick Yu-Wai-Man; Anthony T Moore; Andrew R Webster; Gavin Arno
Journal: Invest Ophthalmol Vis Sci Date: 2021-05-03 Impact factor: 4.799

5. Retinal iron homeostasis in health and disease.

Authors: Delu Song; Joshua L Dunaief
Journal: Front Aging Neurosci Date: 2013-06-28 Impact factor: 5.750

6. Comprehensive analysis of gene expression patterns in Friedreich's ataxia fibroblasts by RNA sequencing reveals altered levels of protein synthesis factors and solute carriers.

Authors: Jill Sergesketter Napierala; Yanjie Li; Yue Lu; Kevin Lin; Lauren A Hauser; David R Lynch; Marek Napierala
Journal: Dis Model Mech Date: 2017-11-01 Impact factor: 5.758