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Journal Abstract Search

220 related items for PubMed ID: 9425237

  • 1. 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; 7(2):291-7. PubMed ID: 9425237
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  • 4. 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; 14(4):369-72. PubMed ID: 17388982
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  • 5. Neuronal ceroid lipofuscinoses: research update.
    Wisniewski KE, Kida E, Connell F, Zhong N.
    Neurol Sci; 2000 Apr; 21(3 Suppl):S49-56. PubMed ID: 11073228
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  • 8. Identification of three novel mutations of the palmitoyl-protein thioesterase-1 (PPT1) gene in children with neuronal ceroid-lipofuscinosis.
    Waliany S, Das AK, Gaben A, Wisniewski KE, Hofmann SL.
    Hum Mutat; 2000 Feb; 15(2):206-7. PubMed ID: 10649502
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  • 11. Juvenile neuronal ceroid lipofuscinosis: clinical course and genetic studies in Spanish patients.
    Pérez-Poyato MS, Milà Recansens M, Ferrer Abizanda I, Montero Sánchez R, Rodríguez-Revenga L, Cusí Sánchez V, García González MM, Domingo Jiménez R, Camino León R, Velázquez Fragua R, Martínez-Bermejo A, Pineda Marfà M.
    J Inherit Metab Dis; 2011 Oct; 34(5):1083-93. PubMed ID: 21499717
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  • 14. Biochemical analysis of mutations in palmitoyl-protein thioesterase causing infantile and late-onset forms of neuronal ceroid lipofuscinosis.
    Das AK, Lu JY, Hofmann SL.
    Hum Mol Genet; 2001 Jun 15; 10(13):1431-9. PubMed ID: 11440996
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  • 17. A novel insertion mutation (A169i) in the CLN1 gene is associated with infantile neuronal ceroid lipofuscinosis in an Italian patient.
    Santorelli FM, Bertini E, Petruzzella V, Di Capua M, Calvieri S, Gasparini P, Zeviani M.
    Biochem Biophys Res Commun; 1998 Apr 17; 245(2):519-22. PubMed ID: 9571187
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