Niemann-Pick C disease gene mutations and age-related neurodegenerative disorders.

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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Auteurs principaux: Michael Zech, Georg Nübling, Florian Castrop, Angela Jochim, Eva C Schulte, Brit Mollenhauer, Peter Lichtner, Annette Peters, Christian Gieger, Thorsten Marquardt, Marie T Vanier, Philippe Latour, Hans Klünemann, Claudia Trenkwalder, Janine Diehl-Schmid, Robert Perneczky, Thomas Meitinger, Konrad Oexle, Bernhard Haslinger, Stefan Lorenzl, Juliane Winkelmann
Format: article
Langue:EN
Publié: Public Library of Science (PLoS) 2013
Sujets:
Medicine
R
Science
Q
Accès en ligne:https://doaj.org/article/1994152f2374473292db8c130bebc032
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Internet

https://doaj.org/article/1994152f2374473292db8c130bebc032

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