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Journal Abstract Search

359 related items for PubMed ID: 9377079

  • 61. Novel CLN3 mutation predicted to cause complete loss of protein function does not modify the classical JNCL phenotype.
    Kwon JM, Rothberg PG, Leman AR, Weimer JM, Mink JW, Pearce DA.
    Neurosci Lett; 2005 Oct 21; 387(2):111-4. PubMed ID: 16087292
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  • 62. Juvenile-onset neuronal ceroid lipofuscinosis with infantile CLN1 mutation and palmitoyl-protein thioesterase deficiency.
    Kälviäinen R, Eriksson K, Losekoot M, Sorri I, Harvima I, Santavuori P, Järvelä I, Autti T, Vanninen R, Salmenperä T, van Diggelen OP.
    Eur J Neurol; 2007 Apr 21; 14(4):369-72. PubMed ID: 17388982
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  • 63. [Neuronal ceroid lipofuscinosis. Closing chapter of a long story].
    Elleder M.
    Cesk Patol; 2000 May 21; 36(2):43-59. PubMed ID: 10916928
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  • 64. [Pitfalls in the clinical and electroencephalographic diagnosis of ceroid lipofuscinosis].
    Vasques CO, Valério RM, Reed UC, Grossman RM, Kok F.
    Arq Neuropsiquiatr; 2005 Mar 21; 63(1):93-6. PubMed ID: 15830072
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  • 65. Childhood neuronal ceroid-lipofuscinoses in Argentina.
    Taratuto AL, Saccoliti M, Sevlever G, Ruggieri V, Arroyo H, Herrero M, Massaro M, Fejerman N.
    Am J Med Genet; 1995 Jun 05; 57(2):144-9. PubMed ID: 7668319
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  • 67. Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6.
    Cannelli N, Garavaglia B, Simonati A, Aiello C, Barzaghi C, Pezzini F, Cilio MR, Biancheri R, Morbin M, Dalla Bernardina B, Granata T, Tessa A, Invernizzi F, Pessagno A, Boldrini R, Zibordi F, Grazian L, Claps D, Carrozzo R, Mole SE, Nardocci N, Santorelli FM.
    Biochem Biophys Res Commun; 2009 Feb 20; 379(4):892-7. PubMed ID: 19135028
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  • 68. Genotype-phenotype analyses of classic neuronal ceroid lipofuscinosis (NCLs): genetic predictions from clinical and pathological findings.
    Ju W, Wronska A, Moroziewicz DN, Zhong R, Wisniewski N, Jurkiewicz A, Fiory M, Wisniewski KE, Johnston L, Brown WT, Zhong N.
    Beijing Da Xue Xue Bao Yi Xue Ban; 2006 Feb 18; 38(1):41-8. PubMed ID: 16415965
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  • 69. The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter.
    Siintola E, Topcu M, Aula N, Lohi H, Minassian BA, Paterson AD, Liu XQ, Wilson C, Lahtinen U, Anttonen AK, Lehesjoki AE.
    Am J Hum Genet; 2007 Jul 18; 81(1):136-46. PubMed ID: 17564970
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  • 70. A novel mutation in the MFSD8 gene in late infantile neuronal ceroid lipofuscinosis.
    Stogmann E, El Tawil S, Wagenstaller J, Gaber A, Edris S, Abdelhady A, Assem-Hilger E, Leutmezer F, Bonelli S, Baumgartner C, Zimprich F, Strom TM, Zimprich A.
    Neurogenetics; 2009 Feb 18; 10(1):73-7. PubMed ID: 18850119
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  • 71. Avoid diagnostic delay of late infantile and juvenile neuronal ceroid-lipofuscinosis (LINCL, JNCL): a word to pediatricians, neurologists, and ophthalmologists.
    Heim P, Kohlschütter A.
    Am J Med Genet; 1995 Jun 05; 57(2):238. PubMed ID: 7668337
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  • 74. Recent advances in the molecular genetics of the neuronal ceroid lipofuscinoses.
    Mole SE.
    J Inherit Metab Dis; 1996 Jun 05; 19(3):269-74. PubMed ID: 8803767
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  • 77. Immunelectronmicroscopic characterization of T4 and T8 lymphocytes and natural killer cells in neuronal ceroid-lipofuscinosis.
    Kieseier BC, Goebel HH.
    Am J Med Genet; 1995 Jun 05; 57(2):222-4. PubMed ID: 7668333
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