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Results 1 - 6 of 6 for Neuronal ceroid lipofuscinosis 8
  1. CLN8 gene 
    ... More About This Health Condition C8orf61 ceroid-lipofuscinosis, neuronal 8 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation) CLN8_ ...
    https://medlineplus.gov/genetics/gene/cln8 - Genetics
  2. PPT1 gene 
    ... M, Anderson G, Green E, Mole SE. Adult neuronal ceroid lipofuscinosis caused by deficiency in palmitoyl protein thioesterase 1. Neurology. 2007 Jan 30;68(5):387-8. doi: 10.1212/01.wnl.0000252825.85947.2f. ...
    https://medlineplus.gov/genetics/gene/ppt1 - Genetics
  3. MFSD8 gene 
    ... of this condition. More About This Health Condition ceroid-lipofuscinosis neuronal protein 7 CLN7 major facilitator superfamily domain-containing protein 8 MFSD8_HUMAN MGC33302 Tests of MFSD8 PubMed MAJOR ...
    https://medlineplus.gov/genetics/gene/mfsd8 - Genetics
  4. CTSD gene 
    ... and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. Hum Mutat. 2012 Jan;33(1):42-63. ...
    https://medlineplus.gov/genetics/gene/ctsd - Genetics
  5. DNAJC5 gene 
    ... j.bbadis.2015.04.027. Epub 2015 May 8. Citation on PubMed Henderson MX, Wirak GS, Zhang YQ, Dai F, Ginsberg SD, Dolzhanskaya N, Staropoli JF, Nijssen PC, Lam TT, Roth AF, Davis NG, Dawson G, Velinov M, Chandra SS. Neuronal ceroid lipofuscinosis with DNAJC5/CSPalpha mutation has PPT1 pathology and ...
    https://medlineplus.gov/genetics/gene/dnajc5 - Genetics
  6. CLN3 gene 
    ... is responsible for the late onset of juvenile neuronal ceroid lipofuscinosis. Hum Mol Genet. 2008 Jan 15;17(2): ... neuronal localization and trafficking of CLN3 in juvenile neuronal ceroid lipofuscinosis. J Neurochem. 2016 Nov;139(3):456-470. ...
    https://medlineplus.gov/genetics/gene/cln3 - Genetics