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Journal Abstract Search

230 related items for PubMed ID: 17607606

  • 1. Revelation of a novel CLN5 mutation in early juvenile neuronal ceroid lipofuscinosis.
    Cannelli N, Nardocci N, Cassandrini D, Morbin M, Aiello C, Bugiani M, Criscuolo L, Zara F, Striano P, Granata T, Bertini E, Simonati A, Santorelli FM.
    Neuropediatrics; 2007 Feb; 38(1):46-9. PubMed ID: 17607606
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  • 2. A CLN5 mutation causing an atypical neuronal ceroid lipofuscinosis of juvenile onset.
    Pineda-Trujillo N, Cornejo W, Carrizosa J, Wheeler RB, Múnera S, Valencia A, Agudelo-Arango J, Cogollo A, Anderson G, Bedoya G, Mole SE, Ruíz-Linares A.
    Neurology; 2005 Feb 22; 64(4):740-2. PubMed ID: 15728307
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  • 3. 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 22; 19(3):286-8. PubMed ID: 9662406
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  • 13. Gene symbol: CLN5. Disease: Neuronal Ceroid Lipofuscinosis, Finnish Variant.
    Cismondi IA, Cannelli N, Aiello C, Santorelli FM, Kohan R, Oller Ramírez AM, Halac IN.
    Hum Genet; 2008 Jun 22; 123(5):554. PubMed ID: 20960661
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  • 17. Late onset juvenile neuronal ceroid-lipofuscinosis with granular osmiophilic deposits (GROD).
    Hofman IL, Taschner PE.
    Am J Med Genet; 1995 Jun 05; 57(2):165-7. PubMed ID: 7668323
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  • 18. Inhibition of storage pathology in prenatal CLN5-deficient sheep neural cultures by lentiviral gene therapy.
    Hughes SM, Hope KM, Xu JB, Mitchell NL, Palmer DN.
    Neurobiol Dis; 2014 Feb 05; 62():543-50. PubMed ID: 24269732
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