Results 131 to 140 of about 12,273 (193)

Saccadic Eye Movement Characteristics in Adult Niemann-Pick Type C Disease: Relationships with Disease Severity and Brain Structural Measures

, 2015
Niemann-Pick Type C disease (NPC) is a rare genetic disorder of lipid metabolism. A parameter related to horizontal saccadic peak velocity was one of the primary outcome measures in the clinical trial assessing miglustat as a treatment for NPC ...
Christopher L. Adamson, Dennis Velakoulis, Elizabeth A. Bowman, Jeffrey Chee, Larry A. Abel, Leong Looi, Mark Walterfang, Matthew D. Macfarlane, Michael C. Fahey, Patricia Desmond   +9 more
core   +1 more source

Neurofilament light chain in cerebrospinal fluid as a novel biomarker in evaluating both clinical severity and therapeutic response in Niemann-Pick disease type C1. [PDF]

Genet Med, 2023
Agrawal N, Farhat NY, Sinaii N, Do AD, Xiao C, Berry-Kravis E, Bianconi S, Masvekar R, Bielekova B, Solomon B, Porter FD.   +10 more
europepmc   +1 more source

Niemann-Pick Disease, Type C1 [PDF]

, 2020
openaire   +1 more source

Assessing the effect of statins in lowering the risk of stroke and preventing cerebral ischemia in patients with hypercholesterolemia [PDF]

, 2017
Numerous analyses have explored the role of statins in reducing stroke incidence, reducing cerebral ischemia in hypercholesterolemic patients, and preventing ischemic stroke.
AlSulaiman, Wafa
core  

Niemann-Pick disease, type C1 (NPC1) [PDF]

Science-Business eXchange, 2008
openaire   +1 more source

Correlation of age of onset and clinical severity in Niemann-Pick disease type C1 with lysosomal abnormalities and gene expression. [PDF]

Sci Rep, 2022
Baxter LL, Watkins-Chow DE, Johnson NL, Farhat NY, Platt FM, Dale RK, Porter FD, Pavan WJ, Rodriguez-Gil JL.   +8 more
europepmc   +1 more source

Analytical characterization of Methyl-β-Cyclodextrin for pharmacological activity to reduce lysosomal cholesterol accumulation in Niemann-Pick disease type C1 cells [PDF]

, 2017
Dai, Sheng, Fujiwara, Hideji, Hao, Jon, Li, Changhui, Li, Rong, Long, Yan, Marugan, Juan J, Ory, Daniel S, Swaroop, Manju, Vu, Mylinh, Xu, Miao, Yang, Shu, Zheng, Wei   +12 more
core   +2 more sources

Niemann-Pick disease, type C1 (NPC1); NPC2 [PDF]

Science-Business eXchange, 2009
openaire   +1 more source

Targeting the autophagy-NAD axis protects against cell death in Niemann-Pick type C1 disease models

Cell Death and Disease
Impairment of autophagy leads to an accumulation of misfolded proteins and damaged organelles and has been implicated in plethora of human diseases. Loss of autophagy in actively respiring cells has also been shown to trigger metabolic collapse mediated ...
Tetsushi Kataura, Lucia Sedlackova, Congxin Sun, Gamze Kocak, Niall Wilson, Peter Banks, Faisal Hayat, Sergey Trushin, Eugenia Trushina, Oliver D. K. Maddocks, John E. Oblong, Satomi Miwa, Masaya Imoto, Shinji Saiki, Daniel Erskine, Marie E. Migaud, Sovan Sarkar, Viktor I. Korolchuk   +17 more
doaj   +1 more source

Neurodegeneration in the olfactory system in Niemann Pick type C1 disease

Abstract Niemann-Pick type C1 (NPC1) disease is a rare neurodegenerative disorder linked to defective cholesterol biosynthesis and altered lipid regulation. In patients, the most common variant in the Npc1 gene is a missense mutation that leads to a misfolded and ...
Maria Grazia Fioriello, Donatella Lobraico, Raffaella Pia Gatta, Simona Lobasso, Johannes Reisert, Antonio Frigeri, Michele Dibattista   +6 more
openaire   +1 more source