Results 121 to 130 of about 29,877 (187)

Efficacy and safety of efavirenz in Niemann-Pick disease type C. [PDF]

Neurotherapeutics
Gascón-Bayarri J, Rico I, Sánchez-Castañeda C, Ledesma MD, Carnaval T, Bejr-Kasem H, Campdelacreu J, Ferrer A, Rodríguez-Bel L, Cos M, de Lama E, López de Munain A, Rouco I, Pérez-Sousa C, Cerdán M, Muelas N, Sevillano MD, Mir P, Villoria J, Videla S.   +19 more
europepmc   +1 more source

Evidence of Oxytosis/Ferroptosis in Niemann-Pick Disease Type C. [PDF]

Int J Mol Sci
Sanchez KL, Kim J, White JB, Tolan A, Rajagopal NP, Anderson DW, Shin AN, Shin SD, Currais A, Soriano-Castell D, Maher P, Soriano S.   +11 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

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

Evaluation of the Genetic Background of Patients with Niemann-Pick Disease. [PDF]

Rep Biochem Mol Biol, 2023
Alipouran F, Ghayoor Karimiani E, Khayatzadeh J.   +2 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

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

Arimoclomol and levacetylleucine for the treatment of neurologic manifestations of Niemann-Pick disease type C: A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG). [PDF]

Genet Med Open
Rodriguez-Gil JL, Smith WE, Chang IJ, Mendelsohn BA, ACMG Therapeutics Committee5∗documents@acmg.net.   +4 more
europepmc   +1 more source

Clinical characteristics and treatment outcomes in patients with Niemann-Pick disease type C (NP-C): a cross-sectional study. [PDF]

Orphanet J Rare Dis
Karimzadeh P, Ahmadabadi F, Zeinali V, Kamfar S, Ashrafi MR, Tavasoli AR, Tonekaboni SH, Ghanaati F.   +7 more
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