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Results 1 - 10 of 15 for Ceroid lipofuscinosis neuronal 8
  1. CLN8 gene 
    ... early death. More About This Health Condition C8orf61 ceroid-lipofuscinosis, neuronal 8 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental ...
    https://medlineplus.gov/genetics/gene/cln8 - Genetics
  2. CLN8 disease 
    ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov CEROID LIPOFUSCINOSIS, NEURONAL, 8; CLN8 CEROID LIPOFUSCINOSIS, NEURONAL, 8, NORTHERN EPILEPSY VARIANT ...
    https://medlineplus.gov/genetics/condition/cln8-disease - Genetics
  3. MFSD8 gene 
    ... of this condition. More About This Health Condition ceroid-lipofuscinosis neuronal protein 7 CLN7 major facilitator superfamily domain-containing protein 8 MFSD8_HUMAN MGC33302 Tests of MFSD8 PubMed MAJOR ...
    https://medlineplus.gov/genetics/gene/mfsd8 - Genetics
  4. 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. doi: 10.1212/01.wnl.0000252825.85947.2f. ...
    https://medlineplus.gov/genetics/gene/ppt1 - Genetics
  5. CTSD gene 
    ... and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. Hum Mutat. 2012 Jan;33(1):42-63. ...
    https://medlineplus.gov/genetics/gene/ctsd - Genetics
  6. CLN1 disease 
    ... and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. Hum Mutat. 2012 Jan;33(1):42-63. ...
    https://medlineplus.gov/genetics/condition/cln1-disease - Genetics
  7. CLN10 disease 
    ... and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. Hum Mutat. 2012 Jan;33(1):42-63. ...
    https://medlineplus.gov/genetics/condition/cln10-disease - Genetics
  8. 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 PubMed Schulz ...
    https://medlineplus.gov/genetics/condition/cln3-disease - Genetics
  9. DNAJC5 gene 
    ... j.bbadis.2015.04.027. Epub 2015 May 8. Citation on PubMed Henderson MX, Wirak GS, Zhang YQ, Dai F, Ginsberg SD, Dolzhanskaya N, Staropoli JF, Nijssen PC, Lam TT, Roth AF, 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
  10. CLN3 gene 
    ... features characteristic of CLN3 disease. BATTENIN BTN1 BTS ceroid-lipofuscinosis, neuronal 3 CLN3_HUMAN JNCL MGC102840 Tests of CLN3 ... is responsible for the late onset of juvenile neuronal ceroid lipofuscinosis. Hum Mol Genet. 2008 Jan 15;17(2): ...
    https://medlineplus.gov/genetics/gene/cln3 - Genetics
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