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Results 1 - 6 of 6 for Neuronal ceroid lipofuscinosis 3
  1. ... 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 ...
  2. ... 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 ...
  3. ... 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. ...
  4. ... 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 ...
  5. ... 119-24. doi: 10.1007/s00401-008-0349-3. Epub 2008 Feb 19. Citation on PubMed ... ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early ...
  6. ... 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 ...