Results 71 to 80 of about 7,107 (121)

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

Gene Therapy in a Mouse Model of Niemann-Pick Disease Type C1. [PDF]

Hum Gene Ther, 2021
Kurokawa Y, Osaka H, Kouga T, Jimbo E, Muramatsu K, Nakamura S, Takayanagi Y, Onaka T, Muramatsu SI, Yamagata T.   +9 more
europepmc   +1 more source

Defective iron homeostasis and hematological abnormalities in Niemann-Pick disease type C1. [PDF]

Wellcome Open Res, 2022
Chen OCW, Siebel S, Colaco A, Nicoli ER, Platt N, Shepherd D, Newman S, Armitage AE, Farhat NY, Seligmann G, Smith C, Smith DA, Abdul-Sada A, Jeyakumar M, Drakesmith H, Porter FD, Platt FM.   +16 more
europepmc   +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

Transcriptome of HPβCD-treated Niemann-Pick disease type C1 cells highlights GPNMB as a biomarker for therapeutics. [PDF]

Hum Mol Genet, 2021
Rodriguez-Gil JL, Baxter LL, Watkins-Chow DE, Johnson NL, Davidson CD, Carlson SR, Incao AA, NISC Comparative Sequencing Program, Wallom KL, Farhat NY, Platt FM, Dale RK, Porter FD, Pavan WJ.   +13 more
europepmc   +1 more source

The Effects of Combined Therapy With Metformin and Hydroxypropyl-β-Cyclodextrin in a Mouse Model of Niemann-Pick Disease Type C1. [PDF]

Front Pharmacol, 2021
Du J, Liu X, Zhang Y, Han X, Ma C, Liu Y, Guan L, Qiao L, Lin J.   +8 more
europepmc   +1 more source

Lack of cathepsin B increases severity in Niemann-Pick disease, type C1 mice. [PDF]

Neurosci Lett
Luke R, Cawley NX, Porter FD.
europepmc   +1 more source

Assessment of FDA-Approved Drugs as a Therapeutic Approach for Niemann-Pick Disease Type C1 Using Patient-Specific iPSC-Based Model Systems. [PDF]

Cells, 2022
Völkner C, Pantoom S, Liedtke M, Lukas J, Hermann A, Frech MJ.   +5 more
europepmc   +1 more source

Characterization of liver disease in a cohort of individuals with Niemann-Pick Disease, Type C1. [PDF]

Mol Genet Metab
Agrawal N, Bianconi S, Jaeger R, Farhat NY, Alexander DM, Sinaii N, Hadigan C, Berry-Kravis E, Porter FD.   +8 more
europepmc   +1 more source

Long-term administration of intravenous Trappsol® Cyclo™ (HP-β-CD) results in clinical benefits and stabilization or slowing of disease progression in patients with Niemann-Pick disease type C1: Results of an international 48-week Phase I/II trial. [PDF]

Mol Genet Metab Rep, 2023
Sharma R, Hastings C, Staretz-Chacham O, Raiman J, Paucar M, Spiegel R, Murray B, Hurst B, Liu B, Kjems L, Hrynkow S.   +10 more
europepmc   +1 more source