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    Results: 1 to 20 of 80

    1.

    Visual acuity changes in patients with leber congenital amaurosis and mutations in CEP290.

    McAnany JJ, Genead MA, Walia S, Drack AV, Stone EM, Koenekoop RK, Traboulsi EI, Smith A, Weleber RG, Jacobson SG, Fishman GA.

    JAMA Ophthalmol. 2013 Feb;131(2):178-82. doi: 10.1001/2013.jamaophthalmol.354.

    PMID:
    23411883
    [PubMed - indexed for MEDLINE]
    2.

    Human retinal gene therapy for Leber congenital amaurosis shows advancing retinal degeneration despite enduring visual improvement.

    Cideciyan AV, Jacobson SG, Beltran WA, Sumaroka A, Swider M, Iwabe S, Roman AJ, Olivares MB, Schwartz SB, Komáromy AM, Hauswirth WW, Aguirre GD.

    Proc Natl Acad Sci U S A. 2013 Feb 5;110(6):E517-25. doi: 10.1073/pnas.1218933110. Epub 2013 Jan 22.

    PMID:
    23341635
    [PubMed - indexed for MEDLINE]
    3.

    Intervisit variability of visual parameters in Leber congenital amaurosis caused by RPE65 mutations.

    Roman AJ, Cideciyan AV, Schwartz SB, Olivares MB, Heon E, Jacobson SG.

    Invest Ophthalmol Vis Sci. 2013 Feb 15;54(2):1378-83. doi: 10.1167/iovs.12-11341.

    PMID:
    23341016
    [PubMed - indexed for MEDLINE]
    4.

    Determining consequences of retinal membrane guanylyl cyclase (RetGC1) deficiency in human Leber congenital amaurosis en route to therapy: residual cone-photoreceptor vision correlates with biochemical properties of the mutants.

    Jacobson SG, Cideciyan AV, Peshenko IV, Sumaroka A, Olshevskaya EV, Cao L, Schwartz SB, Roman AJ, Olivares MB, Sadigh S, Yau KW, Heon E, Stone EM, Dizhoor AM.

    Hum Mol Genet. 2013 Jan 1;22(1):168-83. doi: 10.1093/hmg/dds421. Epub 2012 Oct 3.

    PMID:
    23035049
    [PubMed - indexed for MEDLINE]
    5.

    Differential proteomics and functional research following gene therapy in a mouse model of Leber congenital amaurosis.

    Zheng Q, Ren Y, Tzekov R, Zhang Y, Chen B, Hou J, Zhao C, Zhu J, Zhang Y, Dai X, Ma S, Li J, Pang J, Qu J, Li W.

    PLoS One. 2012;7(8):e44855. doi: 10.1371/journal.pone.0044855. Epub 2012 Aug 31.

    PMID:
    22953002
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    6.

    Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis.

    Chiang PW, Wang J, Chen Y, Fu Q, Zhong J, Chen Y, Yi X, Wu R, Gan H, Shi Y, Chen Y, Barnett C, Wheaton D, Day M, Sutherland J, Heon E, Weleber RG, Gabriel LA, Cong P, Chuang K, Ye S, Sallum JM, Qi M.

    Nat Genet. 2012 Sep;44(9):972-4. doi: 10.1038/ng.2370. Epub 2012 Jul 29.

    PMID:
    22842231
    [PubMed - indexed for MEDLINE]
    7.

    Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration.

    Koenekoop RK, Wang H, Majewski J, Wang X, Lopez I, Ren H, Chen Y, Li Y, Fishman GA, Genead M, Schwartzentruber J, Solanki N, Traboulsi EI, Cheng J, Logan CV, McKibbin M, Hayward BE, Parry DA, Johnson CA, Nageeb M; Finding of Rare Disease Genes (FORGE) Canada Consortium, Poulter JA, Mohamed MD, Jafri H, Rashid Y, Taylor GR, Keser V, Mardon G, Xu H, Inglehearn CF, Fu Q, Toomes C, Chen R.

    Nat Genet. 2012 Sep;44(9):1035-9. doi: 10.1038/ng.2356. Epub 2012 Jul 29.

    PMID:
    22842230
    [PubMed - indexed for MEDLINE]
    8.

    Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy.

    Perrault I, Hanein S, Zanlonghi X, Serre V, Nicouleau M, Defoort-Delhemmes S, Delphin N, Fares-Taie L, Gerber S, Xerri O, Edelson C, Goldenberg A, Duncombe A, Le Meur G, Hamel C, Silva E, Nitschke P, Calvas P, Munnich A, Roche O, Dollfus H, Kaplan J, Rozet JM.

    Nat Genet. 2012 Sep;44(9):975-7. doi: 10.1038/ng.2357. Epub 2012 Jul 29.

    PMID:
    22842229
    [PubMed - indexed for MEDLINE]
    9.

    NMNAT1 mutations cause Leber congenital amaurosis.

    Falk MJ, Zhang Q, Nakamaru-Ogiso E, Kannabiran C, Fonseca-Kelly Z, Chakarova C, Audo I, Mackay DS, Zeitz C, Borman AD, Staniszewska M, Shukla R, Palavalli L, Mohand-Said S, Waseem NH, Jalali S, Perin JC, Place E, Ostrovsky J, Xiao R, Bhattacharya SS, Consugar M, Webster AR, Sahel JA, Moore AT, Berson EL, Liu Q, Gai X, Pierce EA.

    Nat Genet. 2012 Sep;44(9):1040-5. doi: 10.1038/ng.2361. Epub 2012 Jul 29.

    PMID:
    22842227
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    10.

    Pupillometric analysis for assessment of gene therapy in Leber Congenital Amaurosis patients.

    Melillo P, Pecchia L, Testa F, Rossi S, Bennett J, Simonelli F.

    Biomed Eng Online. 2012 Jul 19;11:40. doi: 10.1186/1475-925X-11-40.

    PMID:
    22812667
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    11.

    Pupillometric quantification of residual rod and cone activity in leber congenital amaurosis.

    Kawasaki A, Munier FL, Leon L, Kardon RH.

    Arch Ophthalmol. 2012 Jun;130(6):798-800. doi: 10.1001/archophthalmol.2011.1756. No abstract available.

    PMID:
    22801849
    [PubMed - indexed for MEDLINE]
    12.

    Gene therapy for Leber congenital amaurosis: advances and future directions.

    Hufnagel RB, Ahmed ZM, Corrêa ZM, Sisk RA.

    Graefes Arch Clin Exp Ophthalmol. 2012 Aug;250(8):1117-28. doi: 10.1007/s00417-012-2028-2. Epub 2012 May 29. Review.

    PMID:
    22644094
    [PubMed - indexed for MEDLINE]
    13.

    Novel RPE65 mutations associated with Leber congenital amaurosis in Chinese patients.

    Xu F, Dong Q, Liu L, Li H, Liang X, Jiang R, Sui R, Dong F.

    Mol Vis. 2012;18:744-50. Epub 2012 Mar 28.

    PMID:
    22509104
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    14.

    Leber congenital amaurosis associated with AIPL1: challenges in ascribing disease causation, clinical findings, and implications for gene therapy.

    Tan MH, Mackay DS, Cowing J, Tran HV, Smith AJ, Wright GA, Dev-Borman A, Henderson RH, Moradi P, Russell-Eggitt I, MacLaren RE, Robson AG, Cheetham ME, Thompson DA, Webster AR, Michaelides M, Ali RR, Moore AT.

    PLoS One. 2012;7(3):e32330. doi: 10.1371/journal.pone.0032330. Epub 2012 Mar 6.

    PMID:
    22412862
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    15.

    Genetic ablation of Pals1 in retinal progenitor cells models the retinal pathology of Leber congenital amaurosis.

    Cho SH, Kim JY, Simons DL, Song JY, Le JH, Swindell EC, Jamrich M, Wu SM, Kim S.

    Hum Mol Genet. 2012 Jun 15;21(12):2663-76. doi: 10.1093/hmg/dds091. Epub 2012 Mar 7.

    PMID:
    22398208
    [PubMed - indexed for MEDLINE]
    16.

    Ocular and extra-ocular features of patients with Leber congenital amaurosis and mutations in CEP290.

    Yzer S, Hollander AI, Lopez I, Pott JW, de Faber JT, Cremers FP, Koenekoop RK, van den Born LI.

    Mol Vis. 2012;18:412-25. Epub 2012 Feb 10.

    PMID:
    22355252
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    17.

    Massively parallel sequencing for early molecular diagnosis in Leber congenital amaurosis.

    Coppieters F, De Wilde B, Lefever S, De Meester E, De Rocker N, Van Cauwenbergh C, Pattyn F, Meire F, Leroy BP, Hellemans J, Vandesompele J, De Baere E.

    Genet Med. 2012 Jun;14(6):576-85. doi: 10.1038/gim.2011.51. Epub 2012 Jan 26.

    PMID:
    22261762
    [PubMed - indexed for MEDLINE]
    18.

    Lack of phenotypic effect of triallelic variation in SPATA7 in a family with Leber congenital amaurosis resulting from CRB1 mutations.

    Li L, Xiao X, Li S, Jiao X, Hejtmancik JF, Zhang Q.

    Mol Vis. 2011;17:3326-32. Epub 2011 Dec 16.

    PMID:
    22219627
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    19.

    Gene therapy for leber congenital amaurosis caused by RPE65 mutations: safety and efficacy in 15 children and adults followed up to 3 years.

    Jacobson SG, Cideciyan AV, Ratnakaram R, Heon E, Schwartz SB, Roman AJ, Peden MC, Aleman TS, Boye SL, Sumaroka A, Conlon TJ, Calcedo R, Pang JJ, Erger KE, Olivares MB, Mullins CL, Swider M, Kaushal S, Feuer WJ, Iannaccone A, Fishman GA, Stone EM, Byrne BJ, Hauswirth WW.

    Arch Ophthalmol. 2012 Jan;130(1):9-24. doi: 10.1001/archophthalmol.2011.298. Epub 2011 Sep 12.

    PMID:
    21911650
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    20.

    Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis.

    Wang X, Wang H, Cao M, Li Z, Chen X, Patenia C, Gore A, Abboud EB, Al-Rajhi AA, Lewis RA, Lupski JR, Mardon G, Zhang K, Muzny D, Gibbs RA, Chen R.

    Hum Mutat. 2011 Dec;32(12):1450-9. doi: 10.1002/humu.21587. Epub 2011 Sep 23.

    PMID:
    21901789
    [PubMed - indexed for MEDLINE]

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