Published in EMBO Mol Med on January 26, 2011
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AAV2 gene therapy readministration in three adults with congenital blindness. Sci Transl Med (2012) 2.87
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Identification and characterization of microRNAs expressed in the mouse eye. Invest Ophthalmol Vis Sci (2007) 2.05
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Three-year follow-up after unilateral subretinal delivery of adeno-associated virus in patients with Leber congenital Amaurosis type 2. Ophthalmology (2013) 1.85
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Genomic analysis of the TRIM family reveals two groups of genes with distinct evolutionary properties. BMC Evol Biol (2008) 1.59
Intact p53-dependent responses in miR-34-deficient mice. PLoS Genet (2012) 1.59
Body-wide gene therapy of Duchenne muscular dystrophy in the mdx mouse model. Proc Natl Acad Sci U S A (2006) 1.55
The human visual cortex responds to gene therapy-mediated recovery of retinal function. J Clin Invest (2011) 1.52
Characterization of a recombinant adeno-associated virus type 2 Reference Standard Material. Hum Gene Ther (2010) 1.51
RNA interference-mediated suppression and replacement of human rhodopsin in vivo. Am J Hum Genet (2007) 1.47
Versatility of AAV vectors for retinal gene transfer. Vision Res (2007) 1.44
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Natural antisense transcripts associated with genes involved in eye development. Hum Mol Genet (2005) 1.40
Vax2 inactivation in mouse determines alteration of the eye dorsal-ventral axis, misrouting of the optic fibres and eye coloboma. Development (2002) 1.39
Systemic but not intraocular Epo gene transfer protects the retina from light-and genetic-induced degeneration. Mol Ther (2004) 1.35
Pharmacological enhancement of mutated alpha-glucosidase activity in fibroblasts from patients with Pompe disease. Mol Ther (2007) 1.34
Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophy. Am J Hum Genet (2007) 1.33
TRIM family: Pleiotropy and diversification through homomultimer and heteromultimer formation. IUBMB Life (2011) 1.27
Correction of Hunter syndrome in the MPSII mouse model by AAV2/8-mediated gene delivery. Hum Mol Genet (2006) 1.21
Biochemical, pathological, and skeletal improvement of mucopolysaccharidosis VI after gene transfer to liver but not to muscle. Mol Ther (2007) 1.21
A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia. Am J Hum Genet (2006) 1.20
Functional correction of CNS lesions in an MPS-IIIA mouse model by intracerebral AAV-mediated delivery of sulfamidase and SUMF1 genes. Hum Mol Genet (2007) 1.20
X-linked Opitz syndrome: novel mutations in the MID1 gene and redefinition of the clinical spectrum. Am J Med Genet A (2003) 1.18
Long-term benefit of adeno-associated virus/antisense-mediated exon skipping in dystrophic mice. Hum Gene Ther (2008) 1.17
Functional interactions between ubiquitin E2 enzymes and TRIM proteins. Biochem J (2011) 1.16
PEGylation of a vesicular stomatitis virus G pseudotyped lentivirus vector prevents inactivation in serum. J Virol (2004) 1.15
AAV-mediated gene transfer for retinal diseases. Expert Opin Biol Ther (2006) 1.15
Filamin A is mutated in X-linked chronic idiopathic intestinal pseudo-obstruction with central nervous system involvement. Am J Hum Genet (2007) 1.13
The ocular albinism type 1 protein, an intracellular G protein-coupled receptor, regulates melanosome transport in pigment cells. Hum Mol Genet (2008) 1.12
Chimeric adeno-associated virus/antisense U1 small nuclear RNA effectively rescues dystrophin synthesis and muscle function by local treatment of mdx mice. Hum Gene Ther (2006) 1.11
Cross-talk between two apoptotic pathways activated by endoplasmic reticulum stress: differential contribution of caspase-12 and AIF. Apoptosis (2006) 1.11
Wnt/β-catenin signaling triggers neuron reprogramming and regeneration in the mouse retina. Cell Rep (2013) 1.10
Disease rescue and increased lifespan in a model of cardiomyopathy and muscular dystrophy by combined AAV treatments. PLoS One (2009) 1.09
Correlation between photoreceptor layer integrity and visual function in patients with Stargardt disease: implications for gene therapy. Invest Ophthalmol Vis Sci (2012) 1.09
Mig12, a novel Opitz syndrome gene product partner, is expressed in the embryonic ventral midline and co-operates with Mid1 to bundle and stabilize microtubules. BMC Cell Biol (2004) 1.08
The long noncoding RNA Vax2os1 controls the cell cycle progression of photoreceptor progenitors in the mouse retina. RNA (2011) 1.08
Mutations that impair interaction properties of TRIM32 associated with limb-girdle muscular dystrophy 2H. Hum Mutat (2008) 1.07
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The ocular albinism type 1 (OA1) G-protein-coupled receptor functions with MART-1 at early stages of melanogenesis to control melanosome identity and composition. Hum Mol Genet (2009) 1.06
Long-term amelioration of feline Mucopolysaccharidosis VI after AAV-mediated liver gene transfer. Mol Ther (2010) 1.06
Abnormal autophagy, ubiquitination, inflammation and apoptosis are dependent upon lysosomal storage and are useful biomarkers of mucopolysaccharidosis VI. Pathogenetics (2009) 1.06
Molecular characterization of a t(2;6) balanced translocation that is associated with a complex phenotype and leads to truncation of the TCBA1 gene. Hum Mutat (2005) 1.06
PML interacts with Myc, and Myc target gene expression is altered in PML-null fibroblasts. Oncogene (2005) 1.06
Worsening of cardiomyopathy using deflazacort in an animal model rescued by gene therapy. PLoS One (2011) 1.05
Effective delivery of large genes to the retina by dual AAV vectors. EMBO Mol Med (2013) 1.04
Nonhuman primate models for diabetic ocular neovascularization using AAV2-mediated overexpression of vascular endothelial growth factor. Diabetes (2005) 1.04
SUMF1 enhances sulfatase activities in vivo in five sulfatase deficiencies. Biochem J (2007) 1.02
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The ocular albinism type 1 (OA1) gene controls melanosome maturation and size. Invest Ophthalmol Vis Sci (2005) 1.01
Adeno-associated viral vectors for retinal gene transfer. Prog Retin Eye Res (2003) 0.99
Evaluation of Italian patients with leber congenital amaurosis due to AIPL1 mutations highlights the potential applicability of gene therapy. Invest Ophthalmol Vis Sci (2011) 0.99
Molecular and clinical characterization of albinism in a large cohort of Italian patients. Invest Ophthalmol Vis Sci (2011) 0.99
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TRIM27 negatively regulates NOD2 by ubiquitination and proteasomal degradation. PLoS One (2012) 0.98
Different serum enzyme levels are required to rescue the various systemic features of the mucopolysaccharidoses. Hum Gene Ther (2010) 0.98
AAV-mediated gene replacement, either alone or in combination with physical and pharmacological agents, results in partial and transient protection from photoreceptor degeneration associated with betaPDE deficiency. Invest Ophthalmol Vis Sci (2011) 0.97
Sulfatase modifying factor 1 trafficking through the cells: from endoplasmic reticulum to the endoplasmic reticulum. EMBO J (2007) 0.97
Preferential silencing of a common dominant rhodopsin mutation does not inhibit retinal degeneration in a transgenic model. Mol Ther (2006) 0.97
Amelioration of both functional and morphological abnormalities in the retina of a mouse model of ocular albinism following AAV-mediated gene transfer. Mol Ther (2005) 0.96
Mutations in splicing factor PRPF3, causing retinal degeneration, form detrimental aggregates in photoreceptor cells. Hum Mol Genet (2007) 0.96
MID1 mutations in patients with X-linked Opitz G/BBB syndrome. Hum Mutat (2008) 0.95
Effective AAV-mediated gene therapy in a mouse model of ethylmalonic encephalopathy. EMBO Mol Med (2012) 0.95
A high-resolution RNA expression atlas of retinitis pigmentosa genes in human and mouse retinas. Invest Ophthalmol Vis Sci (2008) 0.95
TRIM9 is specifically expressed in the embryonic and adult nervous system. Mech Dev (2002) 0.95
Williams-Beuren syndrome TRIM50 encodes an E3 ubiquitin ligase. Eur J Hum Genet (2008) 0.95
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Photoreceptor rescue and toxicity induced by different calpain inhibitors. J Neurochem (2010) 0.92
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MicroRNA-restricted transgene expression in the retina. PLoS One (2011) 0.92
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