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Dokumenttyp:
journal article 
Autor(en):
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 
Titel:
Niemann-pick C disease gene mutations and age-related neurodegenerative disorders. 
Abstract:
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 likely underdiagnosed. Pathophysiologically, genetic alterations compromising the endosomal/lysosomal system are linked with age-related neurodegenerative disorders. We sought to examine a possible associ...    »
 
Zeitschriftentitel:
PLoS ONE 
Jahr:
2013 
Band / Volume:
Heft / Issue:
12 
Seitenangaben Beitrag:
e82879 
Sprache:
eng 
TUM Einrichtung:
Neurologische Klinik und Poliklinik; Klinik und Poliklinik für Psychiatrie und Psychotherapie; Institut für Humangenetik