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Results 1 - 6 of 6 for Ceroid lipofuscinosis neuronal 8
  1. ... early death. More About This Health Condition C8orf61 ceroid-lipofuscinosis, neuronal 8 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental ...
  2. ... 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 ...
  3. ... 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. ...
  4. ... and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. Hum Mutat. 2012 Jan;33(1):42-63. ...
  5. ... 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 ...
  6. ... 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): ...