Molecular genetics of the NCLs — status and perspectives
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, ISSN: 0925-4439, Vol: 1762, Issue: 10, Page: 857-864
2006
- 81Citations
- 63Captures
- 1Mentions
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Example: if you select the 1-year option for an article published in 2019 and a metric category shows 90%, that means that the article or review is performing better than 90% of the other articles/reviews published in that journal in 2019. If you select the 3-year option for the same article published in 2019 and the metric category shows 90%, that means that the article or review is performing better than 90% of the other articles/reviews published in that journal in 2019, 2018 and 2017.
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Metrics Details
- Citations81
- Citation Indexes78
- 78
- CrossRef58
- Policy Citations3
- Policy Citation3
- Captures63
- Readers63
- 63
- Mentions1
- References1
- Wikipedia1
Review Description
The neuronal ceroid lipofuscinoses (NCLs) are a group of inherited neurodegenerative disorders characterized by the accumulation of autofluorescent storage material in many cell types, including neurons. Most NCL subtypes are inherited in an autosomal recessive manner and characterized clinically by epileptic seizures, progressive psychomotor decline, visual failure, variable age of onset, and premature death. To date, seven genes underlying human NCLs have been identified. Most of the mutations in these genes are associated with specific disease subtypes, while some result in variable disease onset, severity and progression. In addition to these, there are still disease subgroups with unknown molecular genetic backgrounds. Although apparent clinical homogeneity exists within some of these subgroups, actual genetic heterogeneity may complicate gene identification. Additional clues to the identification of these unknown genes may come from animal models of NCL and from functional studies of already known genes which may suggest further candidates.
Bibliographic Details
http://www.sciencedirect.com/science/article/pii/S0925443906000871; http://dx.doi.org/10.1016/j.bbadis.2006.05.006; http://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&scp=33750984767&origin=inward; http://www.ncbi.nlm.nih.gov/pubmed/16828266; https://linkinghub.elsevier.com/retrieve/pii/S0925443906000871
Elsevier BV
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