Published in Am J Hum Genet on September 04, 2008
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Safety and efficacy of gene transfer for Leber's congenital amaurosis. N Engl J Med (2008) 17.21
Effect of gene therapy on visual function in Leber's congenital amaurosis. N Engl J Med (2008) 15.30
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The epidemiology of Leber hereditary optic neuropathy in the North East of England. Am J Hum Genet (2002) 2.67
Rescue of a deficiency in ATP synthesis by transfer of MTATP6, a mitochondrial DNA-encoded gene, to the nucleus. Nat Genet (2002) 2.20
Rescue of a mitochondrial deficiency causing Leber Hereditary Optic Neuropathy. Ann Neurol (2002) 2.13
Safety in nonhuman primates of ocular AAV2-RPE65, a candidate treatment for blindness in Leber congenital amaurosis. Hum Gene Ther (2006) 1.81
Mitochondria damage checkpoint, aging, and cancer. Ann N Y Acad Sci (2006) 1.76
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An improved Graves' disease model established by using in vivo electroporation exhibited long-term immunity to hyperthyroidism in BALB/c mice. Endocrinology (2007) 0.98
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The retinal origin of uncrossed optic nerve fibres in rats and their role in visual discrimination. Exp Brain Res (1979) 0.94
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The optimized allotopic expression of ND1 or ND4 genes restores respiratory chain complex I activity in fibroblasts harboring mutations in these genes. Biochim Biophys Acta (2008) 0.94
mRNA localization to the mitochondrial surface allows the efficient translocation inside the organelle of a nuclear recoded ATP6 protein. RNA (2006) 0.89
Expression of algal nuclear ATP synthase subunit 6 in human cells results in protein targeting to mitochondria but no assembly into ATP synthase. Rejuvenation Res (2006) 0.88
Leber congenital amaurosis: survey of the genetic heterogeneity, refinement of the clinical definition and phenotype-genotype correlations as a strategy for molecular diagnosis. Clinical and molecular survey in LCA. Adv Exp Med Biol (2006) 0.87
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Genetic reactivation of cone photoreceptors restores visual responses in retinitis pigmentosa. Science (2010) 3.92
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Identification of gene expression changes associated with the progression of retinal degeneration in the rd1 mouse. Invest Ophthalmol Vis Sci (2004) 1.33
The Detection of Motion by Blind Subjects With the Epiretinal 60-Electrode (Argus II) Retinal Prosthesis. JAMA Ophthalmol (2013) 1.32
Defect in the gene encoding the EAR/EPTP domain-containing protein TSPEAR causes DFNB98 profound deafness. Hum Mol Genet (2012) 1.21
Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy. Hum Mutat (2003) 1.20
The glutamate transporter EAAT5 works as a presynaptic receptor in mouse rod bipolar cells. J Physiol (2006) 1.15
Taurine deficiency is a cause of vigabatrin-induced retinal phototoxicity. Ann Neurol (2009) 1.13
Vigabatrin, the GABA-transaminase inhibitor, damages cone photoreceptors in rats. Ann Neurol (2004) 1.08
In vivo anterior segment imaging in the rat eye with high speed white light full-field optical coherence tomography. Opt Express (2005) 1.07
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A low-cost and simple imaging technique of the anterior and posterior segments: eye fundus, ciliary bodies, iridocorneal angle. Invest Ophthalmol Vis Sci (2008) 0.98
Mitochondrial medicine: to a new era of gene therapy for mitochondrial DNA mutations. J Inherit Metab Dis (2010) 0.97
Temperature-sensitive auditory neuropathy associated with an otoferlin mutation: Deafening fever! Biochem Biophys Res Commun (2010) 0.97
The thioredoxin-like protein rod-derived cone viability factor (RdCVFL) interacts with TAU and inhibits its phosphorylation in the retina. Mol Cell Proteomics (2009) 0.96
Intravitreous injection of PLGA microspheres encapsulating GDNF promotes the survival of photoreceptors in the rd1/rd1 mouse. Mol Vis (2005) 0.95
Distribution of vesicular glutamate transporters in rat and human retina. Brain Res (2006) 0.95
A mitotically inheritable unit containing a MAP kinase module. Proc Natl Acad Sci U S A (2006) 0.94
In vivo observation of the locomotion of microglial cells in the retina. Glia (2010) 0.94
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Allotopic mRNA localization to the mitochondrial surface rescues respiratory chain defects in fibroblasts harboring mitochondrial DNA mutations affecting complex I or v subunits. Rejuvenation Res (2007) 0.94
The optimized allotopic expression of ND1 or ND4 genes restores respiratory chain complex I activity in fibroblasts harboring mutations in these genes. Biochim Biophys Acta (2008) 0.94
Taurine deficiency damages photoreceptors and retinal ganglion cells in vigabatrin-treated neonatal rats. Mol Cell Neurosci (2010) 0.94
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mRNA localization to the mitochondrial surface allows the efficient translocation inside the organelle of a nuclear recoded ATP6 protein. RNA (2006) 0.89
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Otx2 promotes the survival of damaged adult retinal ganglion cells and protects against excitotoxic loss of visual acuity in vivo. J Neurosci (2011) 0.87
Retinal dystrophy resulting from ablation of RXR alpha in the mouse retinal pigment epithelium. Am J Pathol (2004) 0.86
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Downregulation of apoptosis-inducing factor in Harlequin mice induces progressive and severe optic atrophy which is durably prevented by AAV2-AIF1 gene therapy. Brain (2011) 0.85
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