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Results 1 - 7 of 7 for Neuronal ceroid lipofuscinosis 7
  1. MFSD8 gene 
    ... of this condition. More About This Health Condition ceroid-lipofuscinosis neuronal protein 7 CLN7 major facilitator superfamily domain-containing protein 8 ...
    https://medlineplus.gov/genetics/gene/mfsd8 - Genetics
  2. CLN8 gene 
    ... A novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function. Hum Mutat. 2009 Jul;30(7):1104-16. doi: 10.1002/humu.21012. Citation ...
    https://medlineplus.gov/genetics/gene/cln8 - Genetics
  3. TPP1 gene 
    ... Specchio N, Xin W, Miller N. Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis. Mol Genet Metab. 2016 Sep;119(1-2):160-7. doi: 10.1016/j.ymgme.2016.07.011. ...
    https://medlineplus.gov/genetics/gene/tpp1 - Genetics
  4. CLN6 gene 
    ... j.bbrc.2008.12.159. Epub 2009 Jan 7. Citation on PubMed Kay C. Same gene, surprising difference: adult neuronal ceroid lipofuscinosis linked to CLN6, mutated in variant late-infantile ...
    https://medlineplus.gov/genetics/gene/cln6 - Genetics
  5. CLN3 gene 
    ... we know. Mol Genet Genomic Med. 2019 Dec;7(12):e859. doi: 10.1002/mgg3.859. ... juvenile neuronal ceroid lipofuscinosis. J Neurochem. 2016 Nov;139(3):456-470. ...
    https://medlineplus.gov/genetics/gene/cln3 - Genetics
  6. 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
  7. DNAJC5 gene 
    ... sequencing confirms DNAJC5 mutations as cause of adult neuronal ceroid-lipofuscinosis. PLoS One. 2011;6(11):e26741. doi: 10. ... 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