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Journal Abstract Search

254 related items for PubMed ID: 20157158

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  • 24. Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis.
    Aiello C, Terracciano A, Simonati A, Discepoli G, Cannelli N, Claps D, Crow YJ, Bianchi M, Kitzmuller C, Longo D, Tavoni A, Franzoni E, Tessa A, Veneselli E, Boldrini R, Filocamo M, Williams RE, Bertini ES, Biancheri R, Carrozzo R, Mole SE, Santorelli FM.
    Hum Mutat; 2009 Mar; 30(3):E530-40. PubMed ID: 19177532
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  • 28. Application of chromosome 16 markers in the differential diagnosis of neuronal ceroid-lipofuscinosis.
    Taschner PE, de Vos N, Catsman-Berrevoets CE, van Duinen SG, Lindhout D, Breuning MH.
    Am J Med Genet; 1995 Jun 05; 57(2):338-43. PubMed ID: 7668359
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  • 31. Lymphocyte inclusions in Finnish-variant late infantile neuronal ceroid lipofuscinosis (CLN5).
    Rapola J, Lake BD.
    Neuropediatrics; 2000 Feb 05; 31(1):33-4. PubMed ID: 10774993
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  • 37. Classification of the neuronal ceroid-lipofuscinoses: expansion of the atypical forms.
    Dyken P, Wisniewski K.
    Am J Med Genet; 1995 Jun 05; 57(2):150-4. PubMed ID: 7668320
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