Results 81 to 90 of about 7,107 (121)

Serum neurofilament light protein as a biomarker in Niemann-Pick disease, type C1. [PDF]

Genet Med Open
Cawley NX, Zhou R, Mylvara A, Padilla CJ, Alexander D, Farhat N, Alvarez C, Cougnoux A, Berry-Kravis E, Cologna SM, Liu F, Porter FD.   +11 more
europepmc   +1 more source

Gender-Specific Effects of Two Treatment Strategies in a Mouse Model of Niemann-Pick Disease Type C1. [PDF]

Int J Mol Sci, 2021
Holzmann C, Witt M, Rolfs A, Antipova V, Wree A.   +4 more
europepmc   +1 more source

Comparison of neonatal systemic and intracerebroventricular AAV9 gene therapy delivery demonstrating improved behavioral and phenotypic outcomes in a mouse model of Niemann-Pick disease, type C1. [PDF]

PLoS One
Epstein BE, Soden GM, Incao AA, Mylvara A, Flynn J, Ozsolak F, Pavan WJ.   +6 more
europepmc   +1 more source

Utility of 24(S)-hydroxycholesterol as a proximal biomarker to monitor long-term intrathecal adrabetadex therapy in individuals with Niemann-Pick disease, type C1. [PDF]

Mol Genet Metab
Porter FD, Alexander DM, Albert OK, Robbins KP, Labor DA, Borruso AJ, Farhat NY, Jiang X, Berry-Kravis E.   +8 more
europepmc   +1 more source

Toll-like receptor mediated lysozyme expression in Niemann-pick disease, type C1. [PDF]

Mol Genet Metab, 2020
Cougnoux A, Yerger JC, Fellmeth M, Serra-Vinardell J, Wassif CA, Cawley NX, Porter FD.   +6 more
europepmc   +1 more source

Prevalence of Neutralizing Antibodies to AAV2 and AAV9 in Individuals with Niemann-Pick Disease, Type C1. [PDF]

Hum Gene Ther
Mylvara AV, Davidson CD, Alexander D, Venditti CP, Porter FD.   +4 more
europepmc   +1 more source

Correction: The Role of the Niemann-Pick Disease, Type C1 Protein in Adipocyte Insulin Action.

PLoS ONE, 2014
doaj   +7 more sources

Cerebrospinal Fluid and Serum Neuron-Specific Enolase in Niemann-Pick Disease Type C1. [PDF]

Am J Med Genet A
Padilla CJ, Alexander DM, Labor DA, Albert OK, Robbins KP, Berry-Kravis E, Porter FD.   +6 more
europepmc   +1 more source

Single Cell Transcriptome Analysis of Niemann-Pick Disease, Type C1 Cerebella. [PDF]

Int J Mol Sci, 2020
Cougnoux A, Yerger JC, Fellmeth M, Serra-Vinardell J, Martin K, Navid F, Iben J, Wassif CA, Cawley NX, Porter FD.   +9 more
europepmc   +1 more source

Elevated Cerebrospinal Fluid Total Tau in Niemann-Pick Disease Type C1: Correlation With Clinical Severity and Response to Therapeutic Interventions. [PDF]

J Inherit Metab Dis
Cawley NX, Zhou R, Farhat NM, Iben J, Alexander DM, Luke RA, Padilla CJ, Mohamed HO, Albert OK, Robbins KP, Rahhal S, Do AD, Berry-Kravis E, Cologna SM, Liu F, Porter FD.   +15 more
europepmc   +1 more source