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Results 1 - 10 of 15 for Ceroid lipofuscinosis neuronal 6
  1. CLN6 gene 
    ... This Health Condition ceroid-lipofuscinosis neuronal protein 6 ceroid-lipofuscinosis, neuronal 6, late infantile, variant CLN4A CLN6_HUMAN FLJ20561 HsT18960 ...
    https://medlineplus.gov/genetics/gene/cln6 - Genetics
  2. CLN6 disease 
    ... not show signs and symptoms of the condition. Ceroid lipofuscinosis neuronal 6 CLN6-related neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis ...
    https://medlineplus.gov/genetics/condition/cln6-disease - Genetics
  3. DNAJC5 gene 
    ... sequencing confirms DNAJC5 mutations as cause of adult neuronal ceroid-lipofuscinosis. PLoS One. 2011;6(11):e26741. doi: 10.1371/journal.pone.0026741. ...
    https://medlineplus.gov/genetics/gene/dnajc5 - Genetics
  4. TPP1 gene 
    ... insight into the molecular basis of late infantile neuronal ceroid lipofuscinosis. J Biol Chem. 2009 Feb 6;284(6):3976-84. doi: 10.1074/jbc. ...
    https://medlineplus.gov/genetics/gene/tpp1 - Genetics
  5. CLN10 disease 
    ... Tyynela J. Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis. Brain. 2006 Jun;129(Pt 6):1438-45. doi: 10.1093/brain/awl107. Epub ...
    https://medlineplus.gov/genetics/condition/cln10-disease - Genetics
  6. CLN11 disease 
    ... visual loss, and palinopsia as phenotypic features of neuronal ceroid lipofuscinosis due to progranulin gene mutation. Epilepsia. 2014 Jun;55(6):e56-9. doi: 10.1111/epi.12632. Epub ...
    https://medlineplus.gov/genetics/condition/cln11-disease - Genetics
  7. PPT1 gene 
    ... S, Piemonte F, Santorelli FM. Variant late infantile neuronal ceroid lipofuscinosis because of CLN1 mutations. Pediatr Neurol. 2009 Apr;40(4):271-6. doi: 10.1016/j.pediatrneurol.2008.10.018. ...
    https://medlineplus.gov/genetics/gene/ppt1 - Genetics
  8. CLN2 disease 
    ... of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder. Am J Hum Genet. 1999 Jun;64(6):1511-23. doi: 10.1086/302427. Erratum In: ...
    https://medlineplus.gov/genetics/condition/cln2-disease - Genetics
  9. CLN3 disease 
    ... PubMed Rakheja D, Narayan SB, Bennett MJ. Juvenile neuronal ceroid-lipofuscinosis (Batten disease): a brief review and update. Curr Mol Med. 2007 Sep;7(6):603-8. doi: 10.2174/156652407781695729. Citation on ...
    https://medlineplus.gov/genetics/condition/cln3-disease - Genetics
  10. CLN1 disease 
    ... AL, Pearce DA. Interactions of the proteins of neuronal ceroid lipofuscinosis: clues to function. Cell Mol Life Sci. 2011 Feb;68(3):453-74. doi: 10.1007/s00018-010-0468-6. Epub 2010 Aug 1. Citation on PubMed or ...
    https://medlineplus.gov/genetics/condition/cln1-disease - Genetics
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