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Journal Abstract Search

312 related items for PubMed ID: 11001812

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  • 25. Clinicopathological and molecular characterization of neuronal ceroid lipofuscinosis in the Portuguese population.
    Teixeira C, Guimarães A, Bessa C, Ferreira MJ, Lopes L, Pinto E, Pinto R, Boustany RM, Sá Miranda MC, Ribeiro MG.
    J Neurol; 2003 Jun; 250(6):661-7. PubMed ID: 12796825
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  • 28. Molecular genetic analysis of neuronal ceroid lipofuscinosis.
    Mole SE, Gardiner M.
    Int J Neurol; 2003 Jun; 25-26():52-9. PubMed ID: 11980063
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  • 29. Case 27-2002: late-onset infantile neuronal ceroid lipofuscinosis.
    McBride KL.
    N Engl J Med; 2003 May 22; 348(21):2159. PubMed ID: 12761381
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  • 36. 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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  • 37. Cellular pathology and pathogenic aspects of neuronal ceroid lipofuscinoses.
    Kida E, Golabek AA, Wisniewski KE.
    Adv Genet; 2001 Nov 01; 45():35-68. PubMed ID: 11332776
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  • 38. R208X mutation in CLN2 gene associated with reduced cerebrospinal fluid pterins in a girl with classic late infantile neuronal ceroid lipofuscinosis.
    Barisić N, Logan P, Pikija S, Skarpa D, Blau N.
    Croat Med J; 2003 Aug 01; 44(4):489-93. PubMed ID: 12950156
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  • 39. Homogeneous PCR nucleobase quenching assays to detect four mutations that cause neuronal ceroid lipofuscinosis: T75P and R151X in CLN1, and IVS5-1G>C and R208X in CLN2.
    Leman AR, Polochock S, Mole SE, Pearce DA, Rothberg PG.
    J Neurosci Methods; 2006 Oct 15; 157(1):124-31. PubMed ID: 16720047
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  • 40. Proteomic Analysis of Brain and Cerebrospinal Fluid from the Three Major Forms of Neuronal Ceroid Lipofuscinosis Reveals Potential Biomarkers.
    Sleat DE, Tannous A, Sohar I, Wiseman JA, Zheng H, Qian M, Zhao C, Xin W, Barone R, Sims KB, Moore DF, Lobel P.
    J Proteome Res; 2017 Oct 06; 16(10):3787-3804. PubMed ID: 28792770
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