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Journal Abstract Search

113 related items for PubMed ID: 10191125

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  • 6. Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy.
    Ranta S, Topcu M, Tegelberg S, Tan H, Ustübütün A, Saatci I, Dufke A, Enders H, Pohl K, Alembik Y, Mitchell WA, Mole SE, Lehesjoki AE.
    Hum Mutat; 2004 Apr; 23(4):300-5. PubMed ID: 15024724
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  • 8. Loci for classical and a variant late infantile neuronal ceroid lipofuscinosis map to chromosomes 11p15 and 15q21-23.
    Sharp JD, Wheeler RB, Lake BD, Savukoski M, Järvelä IE, Peltonen L, Gardiner RM, Williams RE.
    Hum Mol Genet; 1997 Apr; 6(4):591-5. PubMed ID: 9097964
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  • 11. 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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  • 12. 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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  • 15. Lymphocyte inclusions in Finnish-variant late infantile neuronal ceroid lipofuscinosis (CLN5).
    Rapola J, Lake BD.
    Neuropediatrics; 2000 Feb; 31(1):33-4. PubMed ID: 10774993
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  • 17. 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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