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Results 1 - 8 of 8 for Neuronal ceroid lipofuscinosis 5
  1. CLN5 gene 
    ... This Health Condition ceroid-lipofuscinosis neuronal protein 5 ceroid-lipofuscinosis, neuronal 5 CLN5_HUMAN Tests of CLN5 PubMed CLN5 INTRACELLULAR ...
    https://medlineplus.gov/genetics/gene/cln5 - Genetics
  2. TPP1 gene 
    ... TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease). Hum Mutat. 2013 May;34(5):706-13. doi: 10.1002/humu.22292. Epub ...
    https://medlineplus.gov/genetics/gene/tpp1 - Genetics
  3. CLN8 gene 
    ... WA, Mole SE, Lehesjoki AE. Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy. Hum Mutat. 2004 Apr;23(4):300-5. doi: 10.1002/humu.20018. Citation on PubMed ...
    https://medlineplus.gov/genetics/gene/cln8 - Genetics
  4. 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. ...
    https://medlineplus.gov/genetics/gene/ppt1 - Genetics
  5. CLN6 gene 
    ... SF. Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6. Am J Hum Genet. 2011 May 13;88(5):566-73. doi: 10.1016/j.ajhg.2011. ...
    https://medlineplus.gov/genetics/gene/cln6 - Genetics
  6. MFSD8 gene 
    ... are a common cause of variant late-infantile neuronal ceroid lipofuscinosis. Brain. 2009 Mar;132(Pt 3):810-9. doi: 10.1093/brain/awn366. Epub 2009 Feb 5. Citation on PubMed Sharifi A, Kousi M, Sagne ...
    https://medlineplus.gov/genetics/gene/mfsd8 - Genetics
  7. CLN3 gene 
    ... neuronal localization and trafficking of CLN3 in juvenile neuronal ceroid ... J Neurosci Res. 2005 Mar 1;79(5):573-83. doi: 10.1002/jnr.20367. Citation ...
    https://medlineplus.gov/genetics/gene/cln3 - Genetics
  8. DNAJC5 gene 
    ... DNAJC5 PubMed DNAJ/HSP40 ... A, Cruchaga C. Exome-sequencing confirms DNAJC5 mutations as cause of adult neuronal ceroid-lipofuscinosis. PLoS One. 2011;6(11):e26741. doi: 10. ...
    https://medlineplus.gov/genetics/gene/dnajc5 - Genetics