A novel deletion variant in CLN3 with highly variable expressivity is responsible for juvenile neuronal ceroid lipofuscinoses
Author:
Publisher
Springer Science and Business Media LLC
Subject
Clinical Neurology,General Medicine
Link
https://link.springer.com/content/pdf/10.1007/s13760-021-01655-9.pdf
Reference68 articles.
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2. Seehafer SS, Pearce DA (2006) You say lipofuscin, we say ceroid: defining autofluorescent storage material. Neurobiol Aging 27(4):576–588. https://doi.org/10.1016/j.neurobiolaging.2005.12.006
3. Defoort-Dhellemmes S (2014) Juvenile Neuronal Ceroid Lipofuscinoses (JNCL). In: Inherited Chorioretinal Dystrophies. Springer, pp 261–266
4. Siintola E, Lehesjoki A-E, Mole SE (2006) Molecular genetics of the NCLs—status and perspectives. Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease 1762 (10):857–864. https://doi.org/https://doi.org/10.1016/j.bbadis.2006.05.006
5. Mitchison HM, Lim MJ, Cooper JD (2004) Selectivity and types of cell death in the neuronal ceroid lipofuscinoses (NCLs). Brain Pathol 14(1):86–96. https://doi.org/10.1111/j.1750-3639.2004.tb00502.x
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