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Neuronal ceroid lipofuscinosis 7
- ... MFSD8-related neuronal ceroid lipofuscinosis Genetic Testing Registry: Neuronal ceroid lipofuscinosis 7 CLN7 disease National Organization for Rare Disorders (NORD) ...
- ... 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 ... family and 8 other families. PLoS One. 2012;7(1):e29729. doi: ... for the neuronal ceroid lipofuscinoses. Neurology. 2012 Jul 10;79(2):183-91. ...
- ... 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 ...
- ... 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. ...
- ... 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 ...
- ... not show signs and symptoms of the condition. Neuronal ceroid lipofuscinosis 8 Genetic Testing Registry: Neuronal ceroid lipofuscinosis 8 northern epilepsy variant Genetic Testing Registry: Neuronal ...
- ... symptoms of the condition. Finnish variant late infantile neuronal ceroid lipofuscinosis Finnish vLINCL Jansky-Bielschowsky disease Late-infantile neuronal ...
- ... lobar degeneration. Ceroid lipofuscinosis, neuronal, 11 GRN-related neuronal ceroid-lipofuscinosis Genetic Testing Registry: Neuronal ceroid lipofuscinosis 11 National ...