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153 related items for PubMed ID: 25338278

  • 1. Phenotyping heterozygous carriers of juvenile neuronal ceroid lipofuscinosis with CLN3 mutations.
    Bergholz R, Kohlschütter A, Schulz A, Hubert W, Rüther K.
    Graefes Arch Clin Exp Ophthalmol; 2015 Aug; 253(8):1245-50. PubMed ID: 25338278
    [Abstract] [Full Text] [Related]

  • 2. Ocular morphology and function in juvenile neuronal ceroid lipofuscinosis (CLN3) in the first decade of life.
    Preising MN, Abura M, Jäger M, Wassill KH, Lorenz B.
    Ophthalmic Genet; 2017 Aug; 38(3):252-259. PubMed ID: 27486012
    [Abstract] [Full Text] [Related]

  • 3. Profound infantile neuroretinal dysfunction in a heterozygote for the CLN3 genetic defect.
    de los Reyes E, Dyken PR, Phillips P, Brodsky M, Bates S, Glasier C, Mrak RE.
    J Child Neurol; 2004 Jan; 19(1):42-6. PubMed ID: 15032383
    [Abstract] [Full Text] [Related]

  • 4. Clinical and molecular characterization of non-syndromic retinal dystrophy due to c.175G>A mutation in ceroid lipofuscinosis neuronal 3 (CLN3).
    Chen FK, Zhang X, Eintracht J, Zhang D, Arunachalam S, Thompson JA, Chelva E, Mallon D, Chen SC, McLaren T, Lamey T, De Roach J, McLenachan S.
    Doc Ophthalmol; 2019 Feb; 138(1):55-70. PubMed ID: 30446867
    [Abstract] [Full Text] [Related]

  • 5. Multimodal and longitudinal evaluation of novel phenotype-genotype correlation of CLN3 isolated retinal degeneration in an hispanic female with heterozygous mutations c.944dup and c.1305C>G.
    Garza-Garza LA, Villarreal-Martinez P, Villafuerte-de la Cruz R, Garza-Leon M.
    Ophthalmic Genet; 2024 Apr; 45(2):180-185. PubMed ID: 37621118
    [Abstract] [Full Text] [Related]

  • 6. Retinal Phenotype of Patients With Isolated Retinal Degeneration Due to CLN3 Pathogenic Variants in a French Retinitis Pigmentosa Cohort.
    Smirnov VM, Nassisi M, Solis Hernandez C, Méjécase C, El Shamieh S, Condroyer C, Antonio A, Meunier I, Andrieu C, Defoort-Dhellemmes S, Mohand-Said S, Sahel JA, Audo I, Zeitz C.
    JAMA Ophthalmol; 2021 Mar 01; 139(3):278-291. PubMed ID: 33507216
    [Abstract] [Full Text] [Related]

  • 7. Juvenile neuronal ceroid lipofuscinosis (Batten disease) CLN3 mutation (Chrom 16p11.2) with different phenotypes in a sibling pair and low intensity in vivo autofluorescence.
    Mantel I, Brantley MA, Bellmann C, Robson AG, Holder GE, Taylor A, Anderson G, Moore AT.
    Klin Monbl Augenheilkd; 2004 May 01; 221(5):427-30. PubMed ID: 15162299
    [Abstract] [Full Text] [Related]

  • 8. A novel c.1135_1138delCTGT mutation in CLN3 leads to juvenile neuronal ceroid lipofuscinosis.
    Drack AV, Miller JN, Pearce DA.
    J Child Neurol; 2013 Sep 01; 28(9):1112-6. PubMed ID: 23877479
    [Abstract] [Full Text] [Related]

  • 9. Non-invasive assessment of retinal alterations in mouse models of infantile and juvenile neuronal ceroid lipofuscinosis by spectral domain optical coherence tomography.
    Groh J, Stadler D, Buttmann M, Martini R.
    Acta Neuropathol Commun; 2014 May 10; 2():54. PubMed ID: 24887158
    [Abstract] [Full Text] [Related]

  • 10. Retinal pathology and function in a Cln3 knockout mouse model of juvenile Neuronal Ceroid Lipofuscinosis (batten disease).
    Seigel GM, Lotery A, Kummer A, Bernard DJ, Greene ND, Turmaine M, Derksen T, Nussbaum RL, Davidson B, Wagner J, Mitchison HM.
    Mol Cell Neurosci; 2002 Apr 10; 19(4):515-27. PubMed ID: 11988019
    [Abstract] [Full Text] [Related]

  • 11. Detailed Clinical Phenotype and Molecular Genetic Findings in CLN3-Associated Isolated Retinal Degeneration.
    Ku CA, Hull S, Arno G, Vincent A, Carss K, Kayton R, Weeks D, Anderson GW, Geraets R, Parker C, Pearce DA, Michaelides M, MacLaren RE, Robson AG, Holder GE, Heon E, Raymond FL, Moore AT, Webster AR, Pennesi ME.
    JAMA Ophthalmol; 2017 Jul 01; 135(7):749-760. PubMed ID: 28542676
    [Abstract] [Full Text] [Related]

  • 12. Early recognition of CLN3 disease facilitated by visual electrophysiology and multimodal imaging.
    Sakti DH, Cornish EE, Fraser CL, Nash BM, Sandercoe TM, Jones MM, Rowe NA, Jamieson RV, Johnson AM, Grigg JR.
    Doc Ophthalmol; 2023 Jun 01; 146(3):241-256. PubMed ID: 36964447
    [Abstract] [Full Text] [Related]

  • 13. OPTICAL COHERENCE TOMOGRAPHY IN JUVENILE NEURONAL CEROID LIPOFUSCINOSIS.
    Hansen MS, Hove MN, Jensen H, Larsen M.
    Retin Cases Brief Rep; 2016 Jun 01; 10(2):137-9. PubMed ID: 26308342
    [Abstract] [Full Text] [Related]

  • 14. Recognizing differentiating clinical signs of CLN3 disease (Batten disease) at presentation.
    Kuper WFE, Talsma HE, van Schooneveld MJ, Pott JWR, Huijgen BCH, de Wit GC, van Hasselt PM, van Genderen MM.
    Acta Ophthalmol; 2021 Jun 01; 99(4):397-404. PubMed ID: 33073538
    [Abstract] [Full Text] [Related]

  • 15. An Ophthalmic Rating Scale to Assess Ocular Involvement in Juvenile CLN3 Disease.
    Dulz S, Atiskova Y, Wibbeler E, Wildner J, Wagenfeld L, Schwering C, Nickel M, Bartsch U, Spitzer MS, Schulz A.
    Am J Ophthalmol; 2020 Dec 01; 220():64-71. PubMed ID: 32707205
    [Abstract] [Full Text] [Related]

  • 16. Immunomodulation with minocycline rescues retinal degeneration in juvenile neuronal ceroid lipofuscinosis mice highly susceptible to light damage.
    Dannhausen K, Möhle C, Langmann T.
    Dis Model Mech; 2018 Sep 05; 11(9):. PubMed ID: 30042155
    [Abstract] [Full Text] [Related]

  • 17. Juvenile Batten Disease (CLN3): Detailed Ocular Phenotype, Novel Observations, Delayed Diagnosis, Masquerades, and Prospects for Therapy.
    Wright GA, Georgiou M, Robson AG, Ali N, Kalhoro A, Holthaus SK, Pontikos N, Oluonye N, de Carvalho ER, Neveu MM, Weleber RG, Michaelides M.
    Ophthalmol Retina; 2020 Apr 05; 4(4):433-445. PubMed ID: 31926949
    [Abstract] [Full Text] [Related]

  • 18. A novel in-frame mutation in CLN3 leads to Juvenile neuronal ceroid lipofuscinosis in a large Pakistani family.
    Sher M, Farooq M, Abdullah U, Ali Z, Faryal S, Zakaria M, Ullah F, Bukhari H, Møller RS, Tommerup N, Baig SM.
    Int J Neurosci; 2019 Sep 05; 129(9):890-895. PubMed ID: 30892110
    [Abstract] [Full Text] [Related]

  • 19. Cln3-mutations underlying juvenile neuronal ceroid lipofuscinosis cause significantly reduced levels of Palmitoyl-protein thioesterases-1 (Ppt1)-protein and Ppt1-enzyme activity in the lysosome.
    Appu AP, Bagh MB, Sadhukhan T, Mondal A, Casey S, Mukherjee AB.
    J Inherit Metab Dis; 2019 Sep 05; 42(5):944-954. PubMed ID: 31025705
    [Abstract] [Full Text] [Related]

  • 20. Visual deficits in a mouse model of Batten disease are the result of optic nerve degeneration and loss of dorsal lateral geniculate thalamic neurons.
    Weimer JM, Custer AW, Benedict JW, Alexander NA, Kingsley E, Federoff HJ, Cooper JD, Pearce DA.
    Neurobiol Dis; 2006 May 05; 22(2):284-93. PubMed ID: 16412658
    [Abstract] [Full Text] [Related]

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