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Journal Abstract Search

498 related items for PubMed ID: 18684116

  • 1. 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; 74(3):213-22. PubMed ID: 18684116
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  • 4. Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis.
    Sharp JD, Wheeler RB, Parker KA, Gardiner RM, Williams RE, Mole SE.
    Hum Mutat; 2003 Jul; 22(1):35-42. PubMed ID: 12815591
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  • 5. [Tripeptidyl peptidase 1 deficiency in neuronal ceroid lipofuscinosis. A novel mutation].
    Bukina AM, Tsvetkova IV, Semiachkina AN, Il'ina ES.
    Vopr Med Khim; 2002 Jul; 48(6):594-8. PubMed ID: 12698559
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  • 7. 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; 41(4):297-300. PubMed ID: 19748052
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  • 15. Variant late infantile neuronal ceroid lipofuscinosis (CLN6 gene) in Saudi Arabia.
    Al-Muhaizea MA, Al-Hassnan ZN, Chedrawi A.
    Pediatr Neurol; 2009 Jul; 41(1):74-6. PubMed ID: 19520283
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  • 17. 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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  • 18. A novel nonsense mutation (Q509X) in three Italian late-infantile neuronal ceroid-lipofuscinosis children.
    Tessa A, Simonati A, Tavoni A, Bertini E, Santorelli FM.
    Hum Mutat; 2000 Jun; 15(6):577. PubMed ID: 10862088
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  • 19. Late infantile neuronal ceroid lipofuscinosis: quantitative description of the clinical course in patients with CLN2 mutations.
    Steinfeld R, Heim P, von Gregory H, Meyer K, Ullrich K, Goebel HH, Kohlschütter A.
    Am J Med Genet; 2002 Nov 01; 112(4):347-54. PubMed ID: 12376936
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  • 20. Heterogeneity of late-infantile neuronal ceroid lipofuscinosis.
    Zhong N, Moroziewicz DN, Ju W, Jurkiewicz A, Johnston L, Wisniewski KE, Brown WT.
    Genet Med; 2000 Nov 01; 2(6):312-8. PubMed ID: 11339651
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