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Scientific Reports
|
July 26, 2017
NMR analysis reveals significant differences in the plasma metabolic profiles of Niemann Pick C1 patients, heterozygous carriers, and healthy controls
Fay Probert, Victor Ruiz-Rodado, Danielle Te Vruchte, et al.
Nature Medicine
|
October 28, 2008
Niemann-Pick disease type C1 is a sphingosine storage disease that causes deregulation of lysosomal calcium
Emyr Lloyd-Evans, Anthony J Morgan, Xingxuan He, et al.
FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology
|
January 14, 2017
FTY720/fingolimod increases NPC1 and NPC2 expression and reduces cholesterol and sphingolipid accumulation in Niemann-Pick type C mutant fibroblasts
Jason Newton, Nitai C Hait, Michael Maceyka, et al.
The Journal of Pathology
|
November 17, 2022
Development of resistance to FGFR inhibition in urothelial carcinoma via multiple pathways in vitro
Geoffrey A Pettitt, Carolyn D Hurst, Zubeda Khan, et al.
Brain : a Journal of Neurology
|
March 5, 2003
Central nervous system inflammation is a hallmark of pathogenesis in mouse models of GM1 and GM2 gangliosidosis
M Jeyakumar, R Thomas, E Elliot-Smith, et al.
NMR in Biomedicine
|
October 6, 2005
MRS reveals additional hexose N-acetyl resonances in the brain of a mouse model for Sandhoff disease
J P Lowe, D J Stuckey, F R Awan, et al.
Scientific Reports
|
February 10, 2022
Correlation of age of onset and clinical severity in Niemann-Pick disease type C1 with lysosomal abnormalities and gene expression
Laura L Baxter, Dawn E Watkins-Chow, Nicholas L Johnson, et al.
Neurobiology of Disease
|
July 21, 2004
Treatment with miglustat reverses the lipid-trafficking defect in Niemann-Pick disease type C
Robin H Lachmann, Danielle te Vruchte, Emyr Lloyd-Evans, et al.
Stem Cells (Dayton, Ohio)
|
July 11, 2009
Neural stem cell transplantation benefits a monogenic neurometabolic disorder during the symptomatic phase of disease
Mylvaganam Jeyakumar, Jean-Pyo Lee, Nicola R Sibson, et al.
Health Education & Behavior : the Official Publication of the Society for Public Health Education
|
July 31, 2024
Primary Care Providers' Experiences With an Active Elective Genetic Testing Program
Dylan M Platt, Carrie L Blout Zawatsky, Kurt D Christensen, et al.
Page
of 51
Search research articles
Search
Showing results (381-390 of 505) with videos related to
Sort By:
Page
of 51
Scientific Reports
|
July 26, 2017
NMR analysis reveals significant differences in the plasma metabolic profiles of Niemann Pick C1 patients, heterozygous carriers, and healthy controls
Fay Probert, Victor Ruiz-Rodado, Danielle Te Vruchte, et al.
Nature Medicine
|
October 28, 2008
Niemann-Pick disease type C1 is a sphingosine storage disease that causes deregulation of lysosomal calcium
Emyr Lloyd-Evans, Anthony J Morgan, Xingxuan He, et al.
FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology
|
January 14, 2017
FTY720/fingolimod increases NPC1 and NPC2 expression and reduces cholesterol and sphingolipid accumulation in Niemann-Pick type C mutant fibroblasts
Jason Newton, Nitai C Hait, Michael Maceyka, et al.
The Journal of Pathology
|
November 17, 2022
Development of resistance to FGFR inhibition in urothelial carcinoma via multiple pathways in vitro
Geoffrey A Pettitt, Carolyn D Hurst, Zubeda Khan, et al.
Brain : a Journal of Neurology
|
March 5, 2003
Central nervous system inflammation is a hallmark of pathogenesis in mouse models of GM1 and GM2 gangliosidosis
M Jeyakumar, R Thomas, E Elliot-Smith, et al.
NMR in Biomedicine
|
October 6, 2005
MRS reveals additional hexose N-acetyl resonances in the brain of a mouse model for Sandhoff disease
J P Lowe, D J Stuckey, F R Awan, et al.
Scientific Reports
|
February 10, 2022
Correlation of age of onset and clinical severity in Niemann-Pick disease type C1 with lysosomal abnormalities and gene expression
Laura L Baxter, Dawn E Watkins-Chow, Nicholas L Johnson, et al.
Neurobiology of Disease
|
July 21, 2004
Treatment with miglustat reverses the lipid-trafficking defect in Niemann-Pick disease type C
Robin H Lachmann, Danielle te Vruchte, Emyr Lloyd-Evans, et al.
Stem Cells (Dayton, Ohio)
|
July 11, 2009
Neural stem cell transplantation benefits a monogenic neurometabolic disorder during the symptomatic phase of disease
Mylvaganam Jeyakumar, Jean-Pyo Lee, Nicola R Sibson, et al.
Health Education & Behavior : the Official Publication of the Society for Public Health Education
|
July 31, 2024
Primary Care Providers' Experiences With an Active Elective Genetic Testing Program
Dylan M Platt, Carrie L Blout Zawatsky, Kurt D Christensen, et al.
Page
of 51