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Results 1 - 8 of 8 for Neuronal ceroid lipofuscinosis 1
  1. 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. ...
    https://medlineplus.gov/genetics/gene/ppt1 - Genetics
  2. CLN8 gene 
    ... the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosis. Clin Genet. 2010 Jan;77(1):79-85. doi: 10.1111/j.1399-0004.2009.01285.x. Epub 2009 Oct 5. Citation on PubMed Vantaggiato ... lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function. Hum ...
    https://medlineplus.gov/genetics/gene/cln8 - Genetics
  3. CLN5 gene 
    ... Adams J, Lee SY. Proteolytic processing of the neuronal ceroid lipofuscinosis related lysosomal protein CLN5. Exp Cell Res. 2015 Oct 15;338(1):45-53. doi: 10.1016/j.yexcr.2015. ...
    https://medlineplus.gov/genetics/gene/cln5 - Genetics
  4. CTSD gene 
    ... 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. Hum Mutat. 2012 Jan;33(1):42-63. doi: 10.1002/humu.21624. Epub ...
    https://medlineplus.gov/genetics/gene/ctsd - Genetics
  5. 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. ...
    https://medlineplus.gov/genetics/gene/tpp1 - Genetics
  6. MFSD8 gene 
    ... Lahtinen U, Anttonen AK, Lehesjoki AE. The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter. Am J Hum Genet. 2007 Jul;81(1):136-46. doi: 10.1086/518902. Epub 2007 ...
    https://medlineplus.gov/genetics/gene/mfsd8 - Genetics
  7. CLN3 gene 
    ... Tanhuanpaa K, Neefjes J, Olkkonen VM, Jalanko A. Neuronal ceroid lipofuscinosis protein CLN3 interacts with motor proteins and modifies location of late endosomal compartments. Cell Mol Life Sci. 2012 Jun;69(12):2075-89. doi: 10.1007/s00018-011-0913-1. Epub 2012 Jan 20. Citation on PubMed
    https://medlineplus.gov/genetics/gene/cln3 - Genetics
  8. 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