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Results 1 - 10 of 15 for Neuronal ceroid lipofuscinosis 7
  1. ... MFSD8-related neuronal ceroid lipofuscinosis Genetic Testing Registry: Neuronal ceroid lipofuscinosis 7 CLN7 disease National Organization for Rare Disorders (NORD) ...
  2. ... of this condition. More About This Health Condition ceroid-lipofuscinosis neuronal protein 7 CLN7 major facilitator superfamily domain-containing protein 8 ...
  3. ... 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. ...
  4. ... 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 ...
  5. ... 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 ...
  6. ... 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. ...
  7. ... 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
  8. ... 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. ...
  9. ... 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 ...
  10. ... 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. ...
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