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Results 1 - 7 of 7 for Neuronal ceroid lipofuscinosis 9
  1. PPT1 gene 
    ... thioesterase causing infantile and late-onset forms of neuronal ceroid lipofuscinosis. Hum Mol Genet. 2001 Jun 15;10(13):1431-9. doi: 10.1093/hmg/10.13.1431. Citation ...
    https://medlineplus.gov/genetics/gene/ppt1 - Genetics
  2. 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 2009 Feb ...
    https://medlineplus.gov/genetics/gene/mfsd8 - Genetics
  3. CLN6 gene 
    ... Haginoya K. First Japanese variant of late infantile neuronal ceroid lipofuscinosis caused by novel CLN6 mutations. Brain Dev. 2016 Oct;38(9):852-6. doi: 10.1016/j.braindev.2016. ...
    https://medlineplus.gov/genetics/gene/cln6 - Genetics
  4. CLN3 gene 
    ... 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 2016 Sep 9. Citation on PubMed Phillips SN, Benedict JW, Weimer ...
    https://medlineplus.gov/genetics/gene/cln3 - Genetics
  5. CTSD gene 
    ... A, Braulke T. Cell biology and function of neuronal ceroid lipofuscinosis-related proteins. Biochim Biophys Acta. 2013 Nov;1832(11):1866-81. doi: 10.1016/j.bbadis.2013.01.019. Epub 2013 Feb 9. Citation on PubMed Kousi M, Lehesjoki AE, Mole ...
    https://medlineplus.gov/genetics/gene/ctsd - Genetics
  6. CLN5 gene 
    ... A, Braulke T. Cell biology and function of neuronal ceroid lipofuscinosis-related proteins. Biochim Biophys Acta. 2013 Nov;1832(11):1866-81. doi: 10.1016/j.bbadis.2013.01.019. Epub 2013 Feb 9. Citation on PubMed Larkin H, Ribeiro MG, Lavoie ...
    https://medlineplus.gov/genetics/gene/cln5 - 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