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1.
  • Human retinal gene therapy ... Human retinal gene therapy for Leber congenital amaurosis shows advancing retinal degeneration despite enduring visual improvement
    Cideciyan, Artur V.; Jacobson, Samuel G.; Beltran, William A. ... Proceedings of the National Academy of Sciences - PNAS, 02/2013, Volume: 110, Issue: 6
    Journal Article
    Peer reviewed
    Open access

    Leber congenital amaurosis (LCA) associated with retinal pigment epithelium-specific protein 65 kDa (RPE65) mutations is a severe hereditary blindness resulting from both dysfunction and degeneration ...
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  • Improvement and decline in ... Improvement and decline in vision with gene therapy in childhood blindness
    Jacobson, Samuel G; Cideciyan, Artur V; Roman, Alejandro J ... New England journal of medicine/˜The œNew England journal of medicine, 05/2015, Volume: 372, Issue: 20
    Journal Article
    Peer reviewed
    Open access

    Retinal gene therapy for Leber's congenital amaurosis, an autosomal recessive childhood blindness, has been widely considered to be safe and efficacious. Three years after therapy, improvement in ...
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  • Human gene therapy for RPE6... Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics
    Cideciyan, Artur V; Aleman, Tomas S; Boye, Sanford L ... Proceedings of the National Academy of Sciences - PNAS, 09/2008, Volume: 105, Issue: 39
    Journal Article
    Peer reviewed
    Open access

    The RPE65 gene encodes the isomerase of the retinoid cycle, the enzymatic pathway that underlies mammalian vision. Mutations in RPE65 disrupt the retinoid cycle and cause a congenital human blindness ...
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  • Blue cone monochromacy: vis... Blue cone monochromacy: visual function and efficacy outcome measures for clinical trials
    Luo, Xunda; Cideciyan, Artur V; Iannaccone, Alessandro ... PloS one, 04/2015, Volume: 10, Issue: 4
    Journal Article
    Peer reviewed
    Open access

    Blue Cone Monochromacy (BCM) is an X-linked retinopathy caused by mutations in the OPN1LW / OPN1MW gene cluster, encoding long (L)- and middle (M)-wavelength sensitive cone opsins. Recent evidence ...
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  • Human cone visual pigment d... Human cone visual pigment deletions spare sufficient photoreceptors to warrant gene therapy
    Cideciyan, Artur V; Hufnagel, Robert B; Carroll, Joseph ... Human gene therapy, 12/2013, Volume: 24, Issue: 12
    Journal Article
    Peer reviewed
    Open access

    Human X-linked blue-cone monochromacy (BCM), a disabling congenital visual disorder of cone photoreceptors, is a candidate disease for gene augmentation therapy. BCM is caused by either mutations in ...
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  • Treatment of leber congenital amaurosis due to RPE65 mutations by ocular subretinal injection of adeno-associated virus gene vector: short-term results of a phase I trial
    Hauswirth, William W; Aleman, Tomas S; Kaushal, Shalesh ... Human gene therapy, 10/2008, Volume: 19, Issue: 10
    Journal Article
    Peer reviewed
    Open access

    Leber congenital amaurosis (LCA) is a group of autosomal recessive blinding retinal diseases that are incurable. One molecular form is caused by mutations in the RPE65 (retinal pigment ...
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  • Whole-Exome Sequencing Iden... Whole-Exome Sequencing Identifies LRIT3 Mutations as a Cause of Autosomal-Recessive Complete Congenital Stationary Night Blindness
    Zeitz, Christina; Jacobson, Samuel G.; Hamel, Christian P. ... American journal of human genetics, 01/2013, Volume: 92, Issue: 1
    Journal Article
    Peer reviewed
    Open access

    Congenital stationary night blindness (CSNB) is a clinically and genetically heterogeneous retinal disorder. Two forms can be distinguished clinically: complete CSNB (cCSNB) and incomplete CSNB. ...
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  • Complexity of the Class B P... Complexity of the Class B Phenotype in Autosomal Dominant Retinitis Pigmentosa Due to Rhodopsin Mutations
    Jacobson, Samuel G; McGuigan, 3rd, David B; Sumaroka, Alexander ... Investigative ophthalmology & visual science, 09/2016, Volume: 57, Issue: 11
    Journal Article
    Peer reviewed
    Open access

    Previously, patients with RHO mutations and a class A phenotype were found to have severe early-onset loss of rod function, whereas patients with a class B phenotype retained rod function at least in ...
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  • Human RPE65 gene therapy for Leber congenital amaurosis: persistence of early visual improvements and safety at 1 year
    Cideciyan, Artur V; Hauswirth, William W; Aleman, Tomas S ... Human gene therapy, 09/2009, Volume: 20, Issue: 9
    Journal Article
    Peer reviewed
    Open access

    Human gene therapy with rAAV2-vector was performed for the RPE65 form of childhood blindness called Leber congenital amaurosis. In three contemporaneous studies by independent groups, the procedure ...
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10.
  • A Missense Mutation in DHDD... A Missense Mutation in DHDDS, Encoding Dehydrodolichyl Diphosphate Synthase, Is Associated with Autosomal-Recessive Retinitis Pigmentosa in Ashkenazi Jews
    Zelinger, Lina; Banin, Eyal; Obolensky, Alexey ... American journal of human genetics, 02/2011, Volume: 88, Issue: 2
    Journal Article
    Peer reviewed
    Open access

    Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal degenerations caused by mutations in at least 50 genes. Using homozygosity mapping in Ashkenazi Jewish (AJ) patients with ...
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