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Results 1 - 8 of 8 for Ceroid "lipofuscinosis," "neuronal," 2
  1. TPP1 gene 
    ... TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease). Hum Mutat. 2013 May;34( ...
    https://medlineplus.gov/genetics/gene/tpp1 - Genetics
  2. CLN3 gene 
    ... is responsible for the late onset of juvenile neuronal ceroid lipofuscinosis. Hum Mol Genet. 2008 Jan 15;17(2):303-12. doi: 10.1093/hmg/ddm306. Epub ... Erratum In: Mol Genet Metab. 2008 Jun;94(2):270. Citation on PubMed ... ceroid lipofuscinosis protein CLN3 interacts with motor proteins and modifies ...
    https://medlineplus.gov/genetics/gene/cln3 - Genetics
  3. CLN5 gene 
    ... SE. New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses. Neurology. 2012 Jul 10;79(2):183-91. doi: 10.1212/WNL.0b013e31825f0547. Citation ...
    https://medlineplus.gov/genetics/gene/cln5 - Genetics
  4. DNAJC5 gene 
    ... Davis NG, Dawson G, Velinov M, Chandra SS. Neuronal ceroid lipofuscinosis with DNAJC5/CSPalpha mutation has PPT1 pathology and exhibit aberrant protein palmitoylation. Acta Neuropathol. 2016 Apr;131(4):621-37. doi: 10.1007/s00401-015-1512-2. Epub 2015 Dec 10. Citation on PubMed or ...
    https://medlineplus.gov/genetics/gene/dnajc5 - Genetics
  5. CLN6 gene 
    ... membrane protein CLN6. Hum Mutat. 2010 Feb;31(2):E1163-74. doi: ... neuronal ceroid lipofuscinosis caused by novel CLN6 mutations. Brain Dev. 2016 ...
    https://medlineplus.gov/genetics/gene/cln6 - Genetics
  6. CLN8 gene 
    ... early death. More About This Health Condition C8orf61 ceroid-lipofuscinosis, neuronal 8 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation) CLN8_HUMAN ...
    https://medlineplus.gov/genetics/gene/cln8 - Genetics
  7. MFSD8 gene 
    ... of this condition. More About This Health Condition ceroid-lipofuscinosis neuronal protein 7 CLN7 major facilitator superfamily domain-containing ... are a common cause of variant late-infantile neuronal ceroid lipofuscinosis. Brain. 2009 Mar;132(Pt 3):810-9. ...
    https://medlineplus.gov/genetics/gene/mfsd8 - Genetics
  8. CTSD gene 
    ... This Health Condition CATD_HUMAN cathepsin D preproprotein ceroid-lipofuscinosis, neuronal 10 CLN10 CPSD lysosomal aspartyl peptidase lysosomal aspartyl ...
    https://medlineplus.gov/genetics/gene/ctsd - Genetics