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Results 1 - 8 of 8 for Ceroid lipofuscinosis neuronal 7
  1. ... 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 ...
  2. ... 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. ...
  3. ... 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 ...
  4. ... 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. ...
  5. ... 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 ...
  6. ... disease type is given the designation "CLN," meaning ceroid lipofuscinosis, neuronal, and then a number to indicate its subtype. ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov CEROID LIPOFUSCINOSIS, NEURONAL, 8; CLN8 CEROID LIPOFUSCINOSIS, NEURONAL, 8, NORTHERN EPILEPSY ...
  7. ... disease type is given the designation "CLN," meaning ceroid lipofuscinosis, neuronal, and then a number to indicate its subtype. ... Finnish vLINCL Jansky-Bielschowsky disease Late-infantile neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 5 Neuronal ceroid lipofuscinosis, late-infantile ...
  8. ... disease type is given the designation "CLN," meaning ceroid lipofuscinosis, neuronal, and then a number to indicate its subtype. ... progranulin protein develop GRN-related frontotemporal lobar degeneration. Ceroid lipofuscinosis, neuronal, 11 GRN-related neuronal ceroid-lipofuscinosis Genetic Testing ...