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Results 1 - 10 of 17 for Neuronal ceroid lipofuscinosis 3
  1. CLN3 gene 
    ... features characteristic of CLN3 disease. BATTENIN BTN1 BTS ceroid-lipofuscinosis, neuronal 3 CLN3_HUMAN JNCL MGC102840 Tests of CLN3 PubMed ... neuronal localization and trafficking of CLN3 in juvenile neuronal ceroid lipofuscinosis. J Neurochem. 2016 Nov;139(3):456-470. doi: 10.1111/jnc.13744. Epub ...
    https://medlineplus.gov/genetics/gene/cln3 - Genetics
  2. CLN3 disease 
    ... ceroid lipofuscinosis Spielmeyer-Vogt disease Genetic Testing Registry: Neuronal ceroid lipofuscinosis 3 CLN3 disease National Organization for Rare Disorders (NORD) ...
    https://medlineplus.gov/genetics/condition/cln3-disease - Genetics
  3. CLN2 disease 
    ... Parfrey PS. The clinical and genetic epidemiology of neuronal ceroid lipofuscinosis in Newfoundland. Clin Genet. 2008 Sep;74(3):213-22. doi: 10.1111/j.1399-0004. ...
    https://medlineplus.gov/genetics/condition/cln2-disease - Genetics
  4. CLN7 disease 
    ... are a common cause of variant late-infantile neuronal ceroid lipofuscinosis. Brain. 2009 Mar;132(Pt 3):810-9. doi: 10.1093/brain/awn366. Epub ...
    https://medlineplus.gov/genetics/condition/cln7-disease - Genetics
  5. MFSD8 gene 
    ... are a common cause of variant late-infantile neuronal ceroid lipofuscinosis. Brain. 2009 Mar;132(Pt 3):810-9. doi: 10.1093/brain/awn366. Epub ...
    https://medlineplus.gov/genetics/gene/mfsd8 - Genetics
  6. CLN8 disease 
    ... of CLN8, an ER-resident protein involved in neuronal ceroid lipofuscinosis. Biochim Biophys Acta. 2013 Mar;1833(3):529-40. doi: 10.1016/j.bbamcr.2012. ...
    https://medlineplus.gov/genetics/condition/cln8-disease - Genetics
  7. CLN8 gene 
    ... of CLN8, an ER-resident protein involved in neuronal ceroid lipofuscinosis. Biochim Biophys Acta. 2013 Mar;1833(3):529-40. doi: 10.1016/j.bbamcr.2012. ...
    https://medlineplus.gov/genetics/gene/cln8 - Genetics
  8. 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- ...
    https://medlineplus.gov/genetics/condition/cln1-disease - Genetics
  9. CLN5 disease 
    ... C, Ribeiro MG, Jalanko A, Kyttala A. The neuronal ceroid lipofuscinosis protein CLN5: new insights into cellular maturation, transport, and consequences of mutations. Hum Mutat. 2010 Mar;31(3):356-65. doi: 10.1002/humu.21195. Citation ...
    https://medlineplus.gov/genetics/condition/cln5-disease - Genetics
  10. CLN5 gene 
    ... C, Ribeiro MG, Jalanko A, Kyttala A. The neuronal ceroid lipofuscinosis protein CLN5: new insights into cellular maturation, transport, and consequences of mutations. Hum Mutat. 2010 Mar;31(3):356-65. doi: 10.1002/humu.21195. Citation ...
    https://medlineplus.gov/genetics/gene/cln5 - Genetics
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