Niemann-Pick C Disease Gene Mutations and Age-Related Neurodegenerative Disorders
Niemann-Pick C Disease Gene Mutations and Age-Related Neurodegenerative Disorders
About this item
Full title
Author / Creator
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 and Winkelmann, Juliane
Publisher
United States: Public Library of Science
Journal title
Language
English
Formats
Publication information
Publisher
United States: Public Library of Science
Subjects
More information
Scope and Contents
Contents
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 a...
Alternative Titles
Full title
Niemann-Pick C Disease Gene Mutations and Age-Related Neurodegenerative Disorders
Authors, Artists and Contributors
Author / Creator
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
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_plos_journals_1472014595
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_1472014595
Other Identifiers
ISSN
1932-6203
E-ISSN
1932-6203
DOI
10.1371/journal.pone.0082879
