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Journal Abstract Search

250 related items for PubMed ID: 19807737

  • 21.
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  • 22. Novel mutations in the CLN6 gene causing a variant late infantile neuronal ceroid lipofuscinosis.
    Teixeira CA, Espinola J, Huo L, Kohlschütter J, Persaud Sawin DA, Minassian B, Bessa CJ, Guimarães A, Stephan DA, Sá Miranda MC, MacDonald ME, Ribeiro MG, Boustany RM.
    Hum Mutat; 2003 May; 21(5):502-8. PubMed ID: 12673792
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  • 24. Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis.
    Aiello C, Terracciano A, Simonati A, Discepoli G, Cannelli N, Claps D, Crow YJ, Bianchi M, Kitzmuller C, Longo D, Tavoni A, Franzoni E, Tessa A, Veneselli E, Boldrini R, Filocamo M, Williams RE, Bertini ES, Biancheri R, Carrozzo R, Mole SE, Santorelli FM.
    Hum Mutat; 2009 Mar; 30(3):E530-40. PubMed ID: 19177532
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  • 25. The neuronal ceroid lipofuscinosis Cln8 gene expression is developmentally regulated in mouse brain and up-regulated in the hippocampal kindling model of epilepsy.
    Lonka L, Aalto A, Kopra O, Kuronen M, Kokaia Z, Saarma M, Lehesjoki AE.
    BMC Neurosci; 2005 Apr 13; 6():27. PubMed ID: 15826318
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  • 27. Exome sequencing identifies a novel homozygous CLN8 mutation in a Turkish family with Northern epilepsy.
    Sahin Y, Güngör O, Gormez Z, Demirci H, Ergüner B, Güngör G, Dilber C.
    Acta Neurol Belg; 2017 Mar 13; 117(1):159-167. PubMed ID: 27844444
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  • 28. 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 13; 38(1):46-9. PubMed ID: 17607606
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  • 29. A mutation in the CLN8 gene in English Setter dogs with neuronal ceroid-lipofuscinosis.
    Katz ML, Khan S, Awano T, Shahid SA, Siakotos AN, Johnson GS.
    Biochem Biophys Res Commun; 2005 Feb 11; 327(2):541-7. PubMed ID: 15629147
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  • 36. 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 Feb 11; 15(3):273-9. PubMed ID: 10679943
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  • 37. The clinical and genetic epidemiology of neuronal ceroid lipofuscinosis in Newfoundland.
    Moore SJ, Buckley DJ, MacMillan A, Marshall HD, Steele L, Ray PN, Nawaz Z, Baskin B, Frecker M, Carr SM, Ives E, Parfrey PS.
    Clin Genet; 2008 Sep 11; 74(3):213-22. PubMed ID: 18684116
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  • 38. Behavioral assessment in mouse models of neuronal ceroid lipofuscinosis using a light-cued T-maze.
    Wendt KD, Lei B, Schachtman TR, Tullis GE, Ibe ME, Katz ML.
    Behav Brain Res; 2005 Jun 20; 161(2):175-82. PubMed ID: 15885820
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  • 40. Towards understanding the neuronal ceroid lipofuscinoses.
    Kohlschütter A, Schulz A.
    Brain Dev; 2009 Aug 20; 31(7):499-502. PubMed ID: 19195801
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