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Neuronal ceroid lipofuscinosis 3
- ... ceroid lipofuscinosis Spielmeyer-Vogt disease Genetic Testing Registry: Neuronal ceroid lipofuscinosis 3 CLN3 disease National Organization for Rare Disorders (NORD) ...
- ... Parfrey PS. The clinical and genetic epidemiology of neuronal ceroid lipofuscinosis in Newfoundland. Clin Genet. 2008 Sep;74(3):213-22. doi: 10.1111/j.1399-0004. ...
- ... 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 ...
- ... 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. ...
- ... AL, Pearce DA. Interactions of the proteins of neuronal ceroid lipofuscinosis: clues to function. Cell Mol Life Sci. 2011 Feb;68(3):453-74. doi: 10.1007/s00018-010-0468- ...
- ... 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 ...
- ... awz377. Erratum In: Brain. 2020 Mar 1;143(3):e24. Citation on PubMed Kamate M, Detroja M, Hattiholi V. Neuronal ceroid lipofuscinosis type-11 in an adolescent. Brain Dev. 2019 ...
- ... 10.1371/journal.pone.0029729. Epub 2012 Jan 3. Erratum In: PLoS One. 2012;7(9). ... for the neuronal ceroid lipofuscinoses. Neurology. 2012 Jul 10;79(2):183-91. ...