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Journal Abstract Search

250 related items for PubMed ID: 19807737

  • 41. Turkish variant late infantile neuronal ceroid lipofuscinosis (CLN7) may be allelic to CLN8.
    Mitchell WA, Wheeler RB, Sharp JD, Bate SL, Gardiner RM, Ranta US, Lonka L, Williams RE, Lehesjoki AE, Mole SE.
    Eur J Paediatr Neurol; 2001; 5 Suppl A():21-7. PubMed ID: 11589000
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  • 42. Clinical and molecular analysis of Japanese patients with neuronal ceroid lipofuscinosis.
    Oishi K, Ida H, Kurosawa K, Eto Y.
    Mol Genet Metab; 1999 Apr; 66(4):344-8. PubMed ID: 10191127
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  • 44. Genetic basis and phenotypic correlations of the neuronal ceroid lipofusinoses.
    Warrier V, Vieira M, Mole SE.
    Biochim Biophys Acta; 2013 Nov; 1832(11):1827-30. PubMed ID: 23542453
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  • 48. Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.
    Kousi M, Lehesjoki AE, Mole SE.
    Hum Mutat; 2012 Jan; 33(1):42-63. PubMed ID: 21990111
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  • 49. Novel mutation and the first prenatal screening of cathepsin D deficiency (CLN10).
    Fritchie K, Siintola E, Armao D, Lehesjoki AE, Marino T, Powell C, Tennison M, Booker JM, Koch S, Partanen S, Suzuki K, Tyynelä J, Thorne LB.
    Acta Neuropathol; 2009 Feb; 117(2):201-8. PubMed ID: 18762956
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  • 50. Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.
    Kousi M, Siintola E, Dvorakova L, Vlaskova H, Turnbull J, Topcu M, Yuksel D, Gokben S, Minassian BA, Elleder M, Mole SE, Lehesjoki AE.
    Brain; 2009 Mar; 132(Pt 3):810-9. PubMed ID: 19201763
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  • 51. Diagnosis of neuronal ceroid lipofuscinosis: mutation detection strategies.
    Getty AL, Rothberg PG, Pearce DA.
    Expert Opin Med Diagn; 2007 Nov; 1(3):351-62. PubMed ID: 23489355
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  • 52. Selective spatiotemporal patterns of glial activation and neuron loss in the sensory thalamocortical pathways of neuronal ceroid lipofuscinosis 8 mice.
    Kuronen M, Lehesjoki AE, Jalanko A, Cooper JD, Kopra O.
    Neurobiol Dis; 2012 Sep; 47(3):444-57. PubMed ID: 22569358
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  • 53. Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses.
    Mole SE, Williams RE, Goebel HH.
    Neurogenetics; 2005 Sep; 6(3):107-26. PubMed ID: 15965709
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  • 55. Genetics of the neuronal ceroid lipofuscinoses (Batten disease).
    Mole SE, Cotman SL.
    Biochim Biophys Acta; 2015 Oct; 1852(10 Pt B):2237-41. PubMed ID: 26026925
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  • 56. Variant late infantile neuronal ceroid lipofuscinosis because of CLN1 mutations.
    Simonati A, Tessa A, Bernardina BD, Biancheri R, Veneselli E, Tozzi G, Bonsignore M, Grosso S, Piemonte F, Santorelli FM.
    Pediatr Neurol; 2009 Apr; 40(4):271-6. PubMed ID: 19302939
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  • 57. Identification of two novel null variants in CLN8 by targeted next-generation sequencing: first report of a Chinese patient with neuronal ceroid lipofuscinosis due to CLN8 variants.
    Gao Z, Xie H, Jiang Q, Wu N, Chen X, Chen Q.
    BMC Med Genet; 2018 Feb 08; 19(1):21. PubMed ID: 29422019
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  • 58. The neuronal ceroid lipofuscinosis protein CLN5: new insights into cellular maturation, transport, and consequences of mutations.
    Schmiedt ML, Bessa C, Heine C, Ribeiro MG, Jalanko A, Kyttälä A.
    Hum Mutat; 2010 Mar 08; 31(3):356-65. PubMed ID: 20052765
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  • 59. Gene symbol: CLN5. Disease: Neuronal Ceroid Lipofuscinosis, finnish variant.
    Kohan R, Cannelli N, Aiello C, Santorelli FM, Cismondi AI, Milà M, Oller Ramírez AM, Halac IN.
    Hum Genet; 2008 Jun 08; 123(5):552. PubMed ID: 20960652
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  • 60. CLN6 disease caused by the same mutation originating in Pakistan has varying pathology.
    Guerreiro R, Bras JT, Vieira M, Warrier V, Agrawal S, Stewart H, Anderson G, Mole SE.
    Eur J Paediatr Neurol; 2013 Nov 08; 17(6):657-60. PubMed ID: 23735787
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