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Journal Abstract Search

214 related items for PubMed ID: 16720047

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  • 4. Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis.
    Fietz M, AlSayed M, Burke D, Cohen-Pfeffer J, Cooper JD, Dvořáková L, Giugliani R, Izzo E, Jahnová H, Lukacs Z, Mole SE, Noher de Halac I, Pearce DA, Poupetova H, Schulz A, Specchio N, Xin W, Miller N.
    Mol Genet Metab; 2016 Sep; 119(1-2):160-7. PubMed ID: 27553878
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  • 6. An Australasian diagnostic service for the neuronal ceroid lipofuscinoses.
    Muller VJ, Paton BC, Fietz MJ.
    Eur J Paediatr Neurol; 2001 Sep; 5 Suppl A():197-201. PubMed ID: 11588997
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  • 7. Molecular basis of the neuronal ceroid lipofuscinoses: mutations in CLN1, CLN2, CLN3, and CLN5.
    Mole SE, Mitchison HM, Munroe PB.
    Hum Mutat; 1999 Sep; 14(3):199-215. PubMed ID: 10477428
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  • 15. Molecular diagnosis of and carrier screening for the neuronal ceroid lipofuscinoses.
    Zhong NA, Wisniewski KE, Ju W, Moroziewicz DN, Jurkiewicz A, McLendon L, Jenkins EC, Brown WT.
    Genet Test; 2000 Sep; 4(3):243-8. PubMed ID: 11142754
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  • 16.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Mole SE, Williams RE.
    ; 1993 Sep. PubMed ID: 20301601
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  • 18. The molecular genetic basis of the neuronal ceroid lipofuscinoses.
    Gardiner RM.
    Neurol Sci; 2000 Sep; 21(3 Suppl):S15-9. PubMed ID: 11073223
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  • 19. The genetic spectrum of human neuronal ceroid-lipofuscinoses.
    Mole SE.
    Brain Pathol; 2004 Jan; 14(1):70-6. PubMed ID: 14997939
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  • 20. A novel CLN2/TPP1 mutation in a patient with late infantile neuronal ceroid lipofuscinosis.
    Yu F, Liu XM, Chen YH, Zhang SQ, Wang K.
    Neurol Sci; 2015 Oct; 36(10):1917-9. PubMed ID: 26032578
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