Results 151 to 160 of about 12,273 (193)

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

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

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

Correction: The role of the Niemann-Pick disease, type C1 protein in adipocyte insulin action.

PLoS ONE, 2014
doaj   +7 more sources

Sterol O-Acyltransferase 1 (<i>SOAT1</i>): A Genetic Modifier of Niemann-Pick Disease, Type C1. [PDF]

Int J Mol Sci
Farhat NY, Alexander D, McKee K, Iben J, Rodriguez-Gil JL, Wassif CA, Cawley NX, Balch WE, Porter FD.   +8 more
europepmc   +1 more source

Application of a glycinated bile acid biomarker for diagnosis and assessment of response to treatment in Niemann-pick disease type C1. [PDF]

Mol Genet Metab, 2020
Sidhu R, Kell P, Dietzen DJ, Farhat NY, Do AND, Porter FD, Berry-Kravis E, Reunert J, Marquardt T, Giugliani R, Lourenço CM, Wang RY, Movsesyan N, Plummer E, Schaffer JE, Ory DS, Jiang X.   +16 more
europepmc   +1 more source

Signatures of natural selection and ethnic-specific prevalence of NPC1 pathogenic mutations contributing to obesity and Niemann-Pick disease type C1. [PDF]

Sci Rep, 2020
Chiorean A, Garver WS, Meyre D.
europepmc   +1 more source

Pathogenic mycobacteria achieve cellular persistence by inhibiting the Niemann-Pick Type C disease cellular pathway [version 1; referees: 2 approved, 2 approved with reservations] [PDF]

, 2016
et al,, Ory, Daniel S
core   +1 more source

Neural stem cells for disease modeling and evaluation of therapeutics for Tay-Sachs disease [PDF]

, 2018
et al,, Jiang, Xuntian, Ory, Daniel S
core   +1 more source

Evaluation of the Potential Role of Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) in Niemann-Pick Disease, Type C1. [PDF]

Int J Mol Sci, 2020
Cawley NX, Lyons AT, Abebe D, Wassif CA, Porter FD.   +4 more
europepmc   +1 more source