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Journal Abstract Search

359 related items for PubMed ID: 9377079

  • 41. A novel mutation af Cln3 associated with delayed-classic juvenile ceroid lipofuscinois and autophagic vacuolar myopathy.
    Licchetta L, Bisulli F, Fietz M, Valentino ML, Morbin M, Mostacci B, Oliver KL, Berkovic SF, Tinuper P.
    Eur J Med Genet; 2015 Oct; 58(10):540-4. PubMed ID: 26360874
    [Abstract] [Full Text] [Related]

  • 42. A novel in-frame mutation in CLN3 leads to Juvenile neuronal ceroid lipofuscinosis in a large Pakistani family.
    Sher M, Farooq M, Abdullah U, Ali Z, Faryal S, Zakaria M, Ullah F, Bukhari H, Møller RS, Tommerup N, Baig SM.
    Int J Neurosci; 2019 Sep; 129(9):890-895. PubMed ID: 30892110
    [Abstract] [Full Text] [Related]

  • 43. Homozygous missense TPP1 mutation associated with mild late infantile neuronal ceroid lipofuscinosis and the genotype-phenotype correlation.
    Chen ZR, Liu DT, Meng H, Liu L, Bian WJ, Liu XR, Zhu WW, He Y, Wang J, Tang B, Su T, Yi YH.
    Seizure; 2019 Jul; 69():180-185. PubMed ID: 31059981
    [Abstract] [Full Text] [Related]

  • 44. The dystrophic retina in multisystem disorders: the electroretinogram in neuronal ceroid lipofuscinoses.
    Weleber RG.
    Eye (Lond); 1998 Jul; 12 ( Pt 3b)():580-90. PubMed ID: 9775220
    [Abstract] [Full Text] [Related]

  • 45. Diagnoses of neuronal ceroid-lipofuscinosis by immunochemical methods.
    Hosain S, Kaufmann WE, Negrin G, Watkins PA, Siakotos AN, Palmer DN, Naidu S.
    Am J Med Genet; 1995 Jun 05; 57(2):239-45. PubMed ID: 7668338
    [Abstract] [Full Text] [Related]

  • 46. Deletion of the Caenorhabditis elegans homologues of the CLN3 gene, involved in human juvenile neuronal ceroid lipofuscinosis, causes a mild progeric phenotype.
    de Voer G, van der Bent P, Rodrigues AJ, van Ommen GJ, Peters DJ, Taschner PE.
    J Inherit Metab Dis; 2005 Jun 05; 28(6):1065-80. PubMed ID: 16435200
    [Abstract] [Full Text] [Related]

  • 47. A variant form of late infantile neuronal ceroid lipofuscinosis (CLN5) is not an allelic form of Batten (Spielmeyer-Vogt-Sjögren, CLN3) disease: exclusion of linkage to the CLN3 region of chromosome 16.
    Williams R, Santavuori P, Peltonen L, Gardiner RM, Järvelä I.
    Genomics; 1994 Mar 15; 20(2):289-90. PubMed ID: 8020979
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  • 50. Protracted course of juvenile ceroid lipofuscinosis associated with a novel CLN3 mutation (p.Y199X).
    Sarpong A, Schottmann G, Rüther K, Stoltenburg G, Kohlschütter A, Hübner C, Schuelke M.
    Clin Genet; 2009 Jul 15; 76(1):38-45. PubMed ID: 19489875
    [Abstract] [Full Text] [Related]

  • 51. Neuronal ceroid lipofuscinoses: classification and diagnosis.
    Wisniewski KE, Kida E, Golabek AA, Kaczmarski W, Connell F, Zhong N.
    Adv Genet; 2001 Jul 15; 45():1-34. PubMed ID: 11332767
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  • 52. Mutated genes in juvenile and variant late infantile neuronal ceroid lipofuscinoses encode lysosomal proteins.
    Vesa J, Peltonen L.
    Curr Mol Med; 2002 Aug 15; 2(5):439-44. PubMed ID: 12125809
    [Abstract] [Full Text] [Related]

  • 53. Atypical juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposit-like inclusions in the autonomic nerve cells of the gut wall.
    Aberg L, Järvelä I, Rapola J, Autti T, Kirveskari E, Lappi M, Sipilä L, Santavuori P.
    Acta Neuropathol; 1998 Mar 15; 95(3):306-12. PubMed ID: 9542598
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  • 54. Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits.
    Mitchison HM, Hofmann SL, Becerra CH, Munroe PB, Lake BD, Crow YJ, Stephenson JB, Williams RE, Hofman IL, Taschner PE, Martin JJ, Philippart M, Andermann E, Andermann F, Mole SE, Gardiner RM, O'Rawe AM.
    Hum Mol Genet; 1998 Feb 15; 7(2):291-7. PubMed ID: 9425237
    [Abstract] [Full Text] [Related]

  • 55. Molecular genetics of the neuronal ceroid lipofuscinoses.
    Mole S, Gardiner M.
    Epilepsia; 1999 Feb 15; 40 Suppl 3():29-32. PubMed ID: 10446748
    [Abstract] [Full Text] [Related]

  • 56. Prenatal testing for late infantile neuronal ceroid lipofuscinosis.
    Berry-Kravis E, Sleat DE, Sohar I, Meyer P, Donnelly R, Lobel P.
    Ann Neurol; 2000 Feb 15; 47(2):254-7. PubMed ID: 10665500
    [Abstract] [Full Text] [Related]

  • 57. Brain lysosomal hydrolases in neuronal ceroid-lipofuscinoses.
    Prasad VV, Pullarkat RK.
    Mol Chem Neuropathol; 1996 Feb 15; 29(2-3):169-79. PubMed ID: 8971694
    [Abstract] [Full Text] [Related]

  • 58. Variant late infantile neuronal ceroid-lipofuscinosis: pathology and biochemistry.
    Tyynelä J, Suopanki J, Santavuori P, Baumann M, Haltia M.
    J Neuropathol Exp Neurol; 1997 Apr 15; 56(4):369-75. PubMed ID: 9100667
    [Abstract] [Full Text] [Related]

  • 59. Neuronal ceroid lipofuscinosis in the Czech Republic: analysis of 57 cases. Report of the 'Prague NCL group'.
    Elleder M, Franc J, Kraus J, Nevsímalová S, Sixtová K, Zeman J.
    Eur J Paediatr Neurol; 1997 Apr 15; 1(4):109-14. PubMed ID: 10728204
    [Abstract] [Full Text] [Related]

  • 60. Variability in the clinical and pathological findings in the neuronal ceroid lipofuscinoses: review of data and observations.
    Wisneiwski KE, Kida E, Patxot OF, Connell F.
    Am J Med Genet; 1992 Feb 15; 42(4):525-32. PubMed ID: 1319116
    [Abstract] [Full Text] [Related]

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