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327 related items for PubMed ID: 30446867

  • 1. 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
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  • 2. 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
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  • 5. 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 Mar 01; 38(3):252-259. PubMed ID: 27486012
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  • 11. 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 01; 129(9):890-895. PubMed ID: 30892110
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  • 13. First case of genetically confirmed CLN3 disease in Chinese with cDNA sequencing revealing pathogenicity of a novel splice site variant.
    Lau NKC, Ching CK, Lee HHC, Chak WKM, Kwan Shing N, Hanchard NA, Mak CM.
    Clin Chim Acta; 2018 Nov 01; 486():151-155. PubMed ID: 30053402
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  • 16. 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 01; 45(2):180-185. PubMed ID: 37621118
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  • 17. A 30-year follow-up of a neuronal ceroid lipofuscinosis patient with mutations in CLN3 and protracted disease course.
    Aberg L, Lauronen L, Hämäläinen J, Mole SE, Autti T.
    Pediatr Neurol; 2009 Feb 01; 40(2):134-7. PubMed ID: 19135632
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  • 18. A recessive CLN3 variant is responsible for delayed-onset retinal degeneration in Hereford cattle.
    Reith RR, Batt MC, Fuller AM, Meekins JM, Diehl KA, Zhou Y, Bedwell PS, Ward JA, Sanders SK, Petersen JL, Steffen DJ.
    J Vet Diagn Invest; 2024 May 01; 36(3):438-446. PubMed ID: 38516801
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  • 19. Further Characterization of the Predominant Inner Retinal Degeneration of Aging Cln3 Δex7/8 Knock-In Mice.
    Volz C, Mirza M, Langmann T, Jägle H.
    Adv Exp Med Biol; 2018 May 01; 1074():403-411. PubMed ID: 29721970
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