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Results 1 - 10 of 22 for Neuronal ceroid lipofuscinosis 1
  1. CLN1 disease 
    ... CLN1 Infantile Batten disease Infantile neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 1 Neuronal ceroid lipofuscinosis, infantile Santavuori-Haltia disease Genetic ...
    https://medlineplus.gov/genetics/condition/cln1-disease - Genetics
  2. 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
  3. CLN8 disease 
    ... 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 Williams RE, Mole ... scheme for the neuronal ceroid lipofuscinoses. Neurology. 2012 Jul 10;79(2): ...
    https://medlineplus.gov/genetics/condition/cln8-disease - Genetics
  4. CLN4 disease 
    ... cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis. Hum Mol Genet. 2013 Apr 1;22(7):1417-23. doi: 10.1093/hmg/ ... and 8 other families. PLoS One. 2012;7(1):e29729. doi: ... for the neuronal ceroid lipofuscinoses. Neurology. 2012 Jul 10;79(2):183-91. ...
    https://medlineplus.gov/genetics/condition/cln4-disease - Genetics
  5. 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
  6. CLN7 disease 
    ... 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/condition/cln7-disease - Genetics
  7. CLN2 disease 
    ... 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/condition/cln2-disease - Genetics
  8. CLN5 disease 
    ... 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/condition/cln5-disease - Genetics
  9. 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
  10. 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
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