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Disease: Dysphasic dementia- hereditary

  • Corticobasal syndrome associated with the A9D Progranulin mutation
  • HDDD2 is a familial frontotemporal lobar degeneration with ubiquitin-positive, tau-negative inclusions caused by a missense mutation in the signal peptide of progranulin
  • Hereditary dysphasic dementia and the Pick-Alzheimer spectrum
  • Hereditary dysphasic disinhibition dementia: a frontotemporal dementia linked to 17q21-22
  • Loss of brain tau defines novel sporadic and familial tauopathies with frontotemporal dementia
  • Neuropathologic heterogeneity in HDDD1: a familial frontotemporal lobar degeneration with ubiquitin-positive inclusions and progranulin mutation
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About CheckOrphan

CheckOrphan is a non-profit organization located in Basel, Switzerland and Santa Cruz, California that is dedicated to rare, orphan and neglected diseases. CheckOrphan offers users an interactive and dynamic platform for all these diseases. This strategy allows visitors to be updated daily on all the latest news and interact with people internationally. This is essential, because due to the nature of these diseases, there is not a large concentration of individuals within any given proximity.
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