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Familial frontotemporal dementia with neuronal intranuclear inclusions is not a polyglutamine expansion disease

✍ Scribed by Ian R Mackenzie; Stefanie L Butland; Rebecca S Devon; Emily Dwosh; Howard Feldman; Caroline Lindholm; Scott J Neal; Francis BR Ouellette; Blair R Leavitt


Book ID
115009433
Publisher
BioMed Central
Year
2006
Tongue
English
Weight
609 KB
Volume
6
Category
Article
ISSN
1471-2377

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A novel mutation in the VCP gene (G157R)
✍ Atbin Djamshidian; Jochen Schaefer; Dietrich Haubenberger; Elisabeth Stogmann; F πŸ“‚ Article πŸ“… 2009 πŸ› John Wiley and Sons 🌐 English βš– 115 KB πŸ‘ 1 views

## Abstract Mutations in the valosin‐containing protein (__VCP__) are known to cause autosomal‐dominant inclusion‐body myopathy with Paget's disease of bone and frontotemporal dementia (IBMPFD). We report a novel missense mutation (G157R) in the N‐terminal region of the __VCP__ gene in a German fam