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Results 1 - 10 of 16 for Ceroid lipofuscinosis neuronal 7
  1. MFSD8 gene 
    ... of this condition. More About This Health Condition ceroid-lipofuscinosis neuronal protein 7 CLN7 major facilitator superfamily domain-containing protein 8 ...
    https://medlineplus.gov/genetics/gene/mfsd8 - Genetics
  2. CLN7 disease 
    ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov CEROID LIPOFUSCINOSIS, NEURONAL, 7; CLN7 PubMed Craiu D, Dragostin O, Dica A, ... facilitator superfamily transporter associated with variant late-infantile neuronal ... Epub 2010 Sep 7. Citation on PubMed or Free article on PubMed ...
    https://medlineplus.gov/genetics/condition/cln7-disease - Genetics
  3. 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/dds558. Epub ... 2012 Jan 3. Erratum In: PLoS One. 2012;7(9). ... for the neuronal ceroid lipofuscinoses. Neurology. 2012 Jul 10;79(2):183-91. ...
    https://medlineplus.gov/genetics/condition/cln4-disease - Genetics
  4. 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 ...
    https://medlineplus.gov/genetics/condition/cln3-disease - Genetics
  5. CLN8 gene 
    ... A novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function. Hum Mutat. 2009 Jul;30(7):1104-16. doi: 10.1002/humu.21012. Citation ...
    https://medlineplus.gov/genetics/gene/cln8 - Genetics
  6. 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.2016.07.011. ...
    https://medlineplus.gov/genetics/condition/cln2-disease - Genetics
  7. 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.2016.07.011. ...
    https://medlineplus.gov/genetics/gene/tpp1 - Genetics
  8. 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.2016.04.007. Epub 2016 May 7. Citation on PubMed
    https://medlineplus.gov/genetics/gene/cln6 - Genetics
  9. CLN6 disease 
    ... 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.2016.04.007. Epub 2016 May 7. Citation on PubMed Schulz A, Kohlschutter A, Mink ...
    https://medlineplus.gov/genetics/condition/cln6-disease - Genetics
  10. CLN3 gene 
    ... we know. Mol Genet Genomic Med. 2019 Dec;7(12):e859. doi: 10.1002/mgg3.859. ... juvenile neuronal ceroid lipofuscinosis. J Neurochem. 2016 Nov;139(3):456-470. ...
    https://medlineplus.gov/genetics/gene/cln3 - Genetics
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