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Journal Abstract Search

420 related items for PubMed ID: 23857568

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  • 2. The novel Cln1(R151X) mouse model of infantile neuronal ceroid lipofuscinosis (INCL) for testing nonsense suppression therapy.
    Miller JN, Kovács AD, Pearce DA.
    Hum Mol Genet; 2015 Jan 01; 24(1):185-96. PubMed ID: 25205113
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  • 4. Variant late infantile neuronal ceroid lipofuscinosis because of CLN1 mutations.
    Simonati A, Tessa A, Bernardina BD, Biancheri R, Veneselli E, Tozzi G, Bonsignore M, Grosso S, Piemonte F, Santorelli FM.
    Pediatr Neurol; 2009 Apr 01; 40(4):271-6. PubMed ID: 19302939
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  • 7. Tissue-specific variation in nonsense mutant transcript level and drug-induced read-through efficiency in the Cln1(R151X) mouse model of INCL.
    Thada V, Miller JN, Kovács AD, Pearce DA.
    J Cell Mol Med; 2016 Feb 01; 20(2):381-5. PubMed ID: 26648046
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  • 10. BATTEN DISEASE CAUSED BY A NOVEL MUTATION IN THE PPT1 GENE.
    Metelitsina TI, Waggoner DJ, Grassi MA.
    Retin Cases Brief Rep; 2016 Feb 01; 10(3):211-3. PubMed ID: 26510000
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  • 11. Ppt1-deficiency dysregulates lysosomal Ca++ homeostasis contributing to pathogenesis in a mouse model of CLN1 disease.
    Mondal A, Appu AP, Sadhukhan T, Bagh MB, Previde RM, Sadhukhan S, Stojilkovic S, Liu A, Mukherjee AB.
    J Inherit Metab Dis; 2022 May 01; 45(3):635-656. PubMed ID: 35150145
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  • 12. Neuronal ceroid lipofuscinoses: research update.
    Wisniewski KE, Kida E, Connell F, Zhong N.
    Neurol Sci; 2000 May 01; 21(3 Suppl):S49-56. PubMed ID: 11073228
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  • 13. Detection of eight novel palmitoyl protein thioesterase (PPT) mutations underlying infantile neuronal ceroid lipofuscinosis (INCL;CLN1).
    Salonen T, Järvelä I, Peltonen L, Jalanko A.
    Hum Mutat; 2000 May 01; 15(3):273-9. PubMed ID: 10679943
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  • 14. Late infantile neuronal ceroid lipofuscinosis: a new mutation in Arabs.
    Goldberg-Stern H, Halevi A, Marom D, Straussberg R, Mimouni-Bloch A.
    Pediatr Neurol; 2009 Oct 01; 41(4):297-300. PubMed ID: 19748052
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  • 15. Novel CLN1 mutation in two Italian sibs with late infantile neuronal ceroid lipofuscinosis.
    Bonsignore M, Tessa A, Di Rosa G, Piemonte F, Dionisi-Vici C, Simonati A, Calamoneri F, Tortorella G, Santorelli FM.
    Eur J Paediatr Neurol; 2006 May 01; 10(3):154-6. PubMed ID: 16759889
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  • 17. Juvenile-onset neuronal ceroid lipofuscinosis with infantile CLN1 mutation and palmitoyl-protein thioesterase deficiency.
    Kälviäinen R, Eriksson K, Losekoot M, Sorri I, Harvima I, Santavuori P, Järvelä I, Autti T, Vanninen R, Salmenperä T, van Diggelen OP.
    Eur J Neurol; 2007 Apr 01; 14(4):369-72. PubMed ID: 17388982
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  • 18. Molecular genetic analysis of neuronal ceroid lipofuscinosis.
    Mole SE, Gardiner M.
    Int J Neurol; 2007 Apr 01; 25-26():52-9. PubMed ID: 11980063
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  • 19. Neuronal ceroid lipofuscinosis with DNAJC5/CSPα mutation has PPT1 pathology and exhibit aberrant protein palmitoylation.
    Henderson MX, Wirak GS, Zhang YQ, Dai F, Ginsberg SD, Dolzhanskaya N, Staropoli JF, Nijssen PC, Lam TT, Roth AF, Davis NG, Dawson G, Velinov M, Chandra SS.
    Acta Neuropathol; 2016 Apr 01; 131(4):621-37. PubMed ID: 26659577
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  • 20. Novel missense mutation in CLN8 in late infantile neuronal ceroid lipofuscinosis: The first report of a CLN8 mutation in Japan.
    Katata Y, Uematsu M, Sato H, Suzuki S, Nakayama T, Kubota Y, Kobayashi T, Hino-Fukuyo N, Saitsu H, Kure S.
    Brain Dev; 2016 Mar 01; 38(3):341-5. PubMed ID: 26443629
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