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Results 1 - 8 of 8 for Neuronal ceroid lipofuscinosis 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 ...
    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 
    ... of CLN8, an ER-resident protein involved in neuronal ceroid lipofuscinosis. Biochim Biophys Acta. 2013 Mar;1833(3):529- ... WA, Mole SE, Lehesjoki AE. Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic ...
    https://medlineplus.gov/genetics/gene/cln8 - Genetics
  7. MFSD8 gene 
    ... are a common cause of variant late-infantile neuronal ceroid lipofuscinosis. Brain. 2009 Mar;132(Pt 3):810-9. ... facilitator superfamily transporter associated with variant late-infantile neuronal ceroid lipofuscinosis. Hum Mol Genet. 2010 Nov 15;19(22): ...
    https://medlineplus.gov/genetics/gene/mfsd8 - Genetics
  8. CTSD gene 
    ... A, Braulke T. Cell biology and function of neuronal ceroid lipofuscinosis-related proteins. Biochim Biophys Acta. 2013 Nov;1832( ... 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