Niemann-Pick C Disease Gene Mutations and Age-Related Neurodegenerative Disorders

Niemann-Pick type C (NPC) disease is a rare autosomal-recessively inherited lysosomal storage disorder caused by mutations in NPC1 (95%) or NPC2. Given the highly variable phenotype, diagnosis is challenging and particularly late-onset forms with predominantly neuropsychiatric presentations are like...

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Autors principals: Zech, Michael, Nübling, Georg, Castrop, Florian, Jochim, Angela, Schulte, Eva C., Mollenhauer, Brit, Lichtner, Peter, Peters, Annette, Gieger, Christian, Marquardt, Thorsten, Vanier, Marie T., Latour, Philippe, Klünemann, Hans, Trenkwalder, Claudia, Diehl-Schmid, Janine, Perneczky, Robert, Meitinger, Thomas, Oexle, Konrad, Haslinger, Bernhard, Lorenzl, Stefan, Winkelmann, Juliane
Format: Artigo
Idioma:Inglês
Publicat: Public Library of Science 2013
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3875432/
https://ncbi.nlm.nih.gov/pubmed/24386122
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0082879
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