References

Cell and gene therapy for Friedreich ataxia: progress to date

10.1089/hum.2013.180 · 2014 · External reference

Friedreich’s ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion

10.1126/science.271.5254.1423 · 1996 · External reference

Pathophysiology of the optic neuropathy associated with Friedreich ataxia

10.1001/archopht.121.11.1582 · 2003 · External reference

Visual system involvement in patients with Friedreich’s ataxia

10.1093/brain/awn269 · 2009 · External reference

Ophthalmic features of Friedreich ataxia

10.1038/eye.2011.291 · 2012 · External reference

Analysis of the visual system in Friedreich ataxia

10.1007/s00415-013-6978-z · 2013 · External reference

Optical coherence tomography and visual field findings in patients with Friedreich ataxia

10.1097/wno.0000000000000068 · 2014 · External reference

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

10.1007/s10048-009-0233-x · 2010 · External reference

Iron homeostasis and toxicity in retinal degeneration

10.1016/j.preteyeres.2007.07.004 · 2007 · External reference

Iron toxicity as a potential factor in AMD

10.1097/iae.0b013e318074c290 · 2007 · External reference

Retinal iron homeostasis in health and disease

10.3389/fnagi.2013.00024 · 2013 · External reference

Dysfunction of the retinal pigment epithelium with age: increased iron decreases phagocytosis and lysosomal activity

10.1167/iovs.08-2850 · 2009 · External reference

Neurons and cardiomyocytes derived from induced pluripotent stem cells as a model for mitochondrial defects in Friedreich’s ataxia

2013 · External reference

Friedreich’s ataxia induced pluripotent stem cells model intergenerational GAATTC triplet repeat instability

10.1016/j.stem.2010.09.014 · 2010 · External reference

Generation of induced pluripotent stem cell lines from Friedreich ataxia patients

10.1007/s12015-010-9210-x · 2011 · External reference

Modeling of Friedreich ataxia-related iron overloading cardiomyopathy using patient-specific-induced pluripotent stem cells

10.1007/s00424-013-1414-x · 2014 · External reference

Rescue of the Friedreich’s ataxia knockout mouse by human YAC transgenesis

10.1007/s100480100118 · 2001 · External reference

GAA repeat expansion mutation mouse models of Friedreich ataxia exhibit oxidative stress leading to progressive neuronal and cardiac pathology

10.1016/j.ygeno.2006.06.015 · 2006 · External reference

GAA repeat instability in Friedreich ataxia YAC transgenic mice

10.1016/j.ygeno.2004.04.003 · 2004 · External reference

The Friedreich ataxia GAA repeat expansion mutation induces comparable epigenetic changes in human and transgenic mouse brain and heart tissues

10.1093/hmg/ddm346 · 2008 · External reference

Cellular, molecular and functional characterisation of yac transgenic mouse models of friedreich ataxia

10.1371/journal.pone.0107416 · 2014 · External reference

Embryonic stem cell lines derived from human blastocysts

10.1126/science.282.5391.1145 · 1998 · External reference

Confluent monolayers of cultured human fetal retinal pigment epithelium exhibit morphology and physiology of native tissue

10.1167/iovs.05-1622 · 2006 · External reference

Oxidative phosphorylation measurement in cell lines and tissues

10.1016/j.mito.2014.03.003 · 2014 · External reference

H2O2-mediated oxidative stress versus cold ischemia-reperfusion: mitochondrial respiratory defects in cultured human endothelial cells

10.1097/00007890-200212270-00029 · 2002 · External reference

Peripherin. A rim-specific membrane protein of rod outer segment discs

1987 · External reference

Functional analysis of serially expanded human iPS cell-derived RPE cultures

10.1167/iovs.13-11943 · 2013 · External reference

Using flow cytometry to compare the dynamics of photoreceptor outer segment phagocytosis in iPS-derived RPE cells

10.1167/iovs.12-9721 · 2012 · External reference

The major cell populations of the mouse retina

10.1523/jneurosci.18-21-08936.1998 · 1998 · External reference

Age-related alterations in neurons of the mouse retina

10.1523/jneurosci.3580-11.2011 · 2011 · External reference

Progressive ganglion cell degeneration precedes neuronal loss in a mouse model of glaucoma

10.1523/jneurosci.4443-07.2008 · 2008 · External reference

Age-related changes in the visual pathways: blame it on the axon

10.1167/iovs.13-12784 · 2013 · External reference

Distribution of frataxin in eye retina of normal mice and of transgenic R7E mice with retinal degeneration

10.1134/s0022093010040113 · 2010 · External reference

Clinical features of Friedreich’s ataxia: classical and atypical phenotypes

10.1111/jnc.12317 · 2013 · External reference

Retinal ganglion cell neurodegeneration in mitochondrial inherited disorders

1787 · External reference