scholarly journals Novel NPC1 mutations with different segregation in two related Greek patients with Niemann-Pick type C disease: molecular study in the extended pedigree and clinical correlations

2017 ◽  
Vol 18 (1) ◽  
Author(s):  
Evangelia Bountouvi ◽  
Anna Papadopoulou ◽  
Marie T. Vanier ◽  
Georgia Nyktari ◽  
Spyridon Kanellakis ◽  
...  
Keyword(s):  
Molecular Study ◽  
Extended Pedigree ◽  
Type C ◽  
Clinical Correlations ◽  
Niemann Pick

ANALYSIS OF CHOLESTEROL AND OXYSTEROL LEVELS IN NIEMANN PICK DISEASE TYPE C MICE AND PATIENTS

2006 ◽  
Vol 37 (S 1) ◽  
Author(s):  
S Tay ◽  
X He ◽  
AM Jenner ◽  
BS Wong ◽  
WY Ong
Keyword(s):  
Disease Type ◽  
Niemann Pick Disease ◽  
Type C ◽  
Niemann Pick ◽  
Pick Disease

Pharmacological Activation of LXRs Decreases Amyloid-β Levels in Niemann-Pick Type C Model Cells

2013 ◽  
Vol 14 (6) ◽  
pp. 582-593 ◽  
Author(s):  
Jasminka Stefulj ◽  
Maja Peric ◽  
Martina Malnar ◽  
Marko Kosicek ◽  
Cornelia Schweinzer ◽  
...  
Keyword(s):  
Type C ◽  
Niemann Pick
Sign in / Sign up

Export Citation Format

Share Document