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Journal Abstract Search

271 related items for PubMed ID: 15996215

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  • 6. Novel CLN8 mutations confirm the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosis.
    Reinhardt K, Grapp M, Schlachter K, Brück W, Gärtner J, Steinfeld R.
    Clin Genet; 2010 Jan; 77(1):79-85. PubMed ID: 19807737
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  • 7. CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis.
    Savukoski M, Klockars T, Holmberg V, Santavuori P, Lander ES, Peltonen L.
    Nat Genet; 1998 Jul; 19(3):286-8. PubMed ID: 9662406
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  • 9. Positional cloning of the CLN5 gene defective in the Finnish variant of the LINCL.
    Klockars T, Savukoski M, Isosomppi J, Peltonen L.
    Mol Genet Metab; 1999 Apr; 66(4):324-8. PubMed ID: 10191122
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  • 11. The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8.
    Ranta S, Zhang Y, Ross B, Lonka L, Takkunen E, Messer A, Sharp J, Wheeler R, Kusumi K, Mole S, Liu W, Soares MB, Bonaldo MF, Hirvasniemi A, de la Chapelle A, Gilliam TC, Lehesjoki AE.
    Nat Genet; 1999 Oct; 23(2):233-6. PubMed ID: 10508524
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  • 14. Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6.
    Cannelli N, Garavaglia B, Simonati A, Aiello C, Barzaghi C, Pezzini F, Cilio MR, Biancheri R, Morbin M, Dalla Bernardina B, Granata T, Tessa A, Invernizzi F, Pessagno A, Boldrini R, Zibordi F, Grazian L, Claps D, Carrozzo R, Mole SE, Nardocci N, Santorelli FM.
    Biochem Biophys Res Commun; 2009 Feb 20; 379(4):892-7. PubMed ID: 19135028
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  • 15. A novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function.
    Vantaggiato C, Redaelli F, Falcone S, Perrotta C, Tonelli A, Bondioni S, Morbin M, Riva D, Saletti V, Bonaglia MC, Giorda R, Bresolin N, Clementi E, Bassi MT.
    Hum Mutat; 2009 Jul 20; 30(7):1104-16. PubMed ID: 19431184
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  • 16. Novel mutations in CLN8 in Italian variant late infantile neuronal ceroid lipofuscinosis: Another genetic hit in the Mediterranean.
    Cannelli N, Cassandrini D, Bertini E, Striano P, Fusco L, Gaggero R, Specchio N, Biancheri R, Vigevano F, Bruno C, Simonati A, Zara F, Santorelli FM.
    Neurogenetics; 2006 May 20; 7(2):111-7. PubMed ID: 16570191
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  • 17. Genetic heterogeneity of neuronal ceroid lipofuscinosis in The Netherlands.
    Taschner PE, Franken PF, van Berkel L, Breuning MH.
    Mol Genet Metab; 1999 Apr 20; 66(4):339-43. PubMed ID: 10191126
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