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Main Content

Nasu-hakola Disease


Directory > Health > Conditions_and_Diseases > Genetic_Disorders > Nasu-Hakola Disease
Related Categories:
   Health > Conditions_and_Diseases > Neurological_Disorders > Dementia (49)
   Regional > Europe > Finland > Health > Conditions_and_Diseases (0)


99 Listings - DR (10/10)99 Listings - DR (10/10) Loss-of-function mutations in TYROBP (DAP12) result in a presenile dementia with bone cysts - http://www.nature.com/ng/journal/v25/n3/full/ng0700_357.html
Paper in Nature Genetics by Paloneva et al describing the discovery of the genetic defect causing Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy.
On Target - DR (6/10)On Target - DR (6/10) CNS Manifestations of Nasu-Hakola Disease: A Frontal Dementia with Bone Cysts - http://www.neurology.org/cgi/content/abstract/56/11/1552
Abstract of paper by Paloneva et al.
870 Listings - DR (3/10)870 Listings - DR (3/10) Online Mendelian Inheritance in Man - http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=221770
Population genetics, references, and symptoms of polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy, also known as Nasu-Hakola disease, and as presenile dementia with bone cysts.

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