Results 151 to 160 of about 48,564 (222)

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

Gene Expression Profile of the Cerebral Cortex of Niemann-Pick Disease Type C Mutant Mice. [PDF]

Genes (Basel)
Servín-Muñoz IV, Ortuño-Sahagún D, Reyes-Mata MP, Griñán-Ferré C, Pallàs M, González-Castillo C.   +5 more
europepmc   +1 more source

[Niemann-Pick disease with two missense mutations in SMPD1 gene: a case report and literature review]. [PDF]

Zhonghua Xue Ye Xue Za Zhi
Wei Y, Guo H, Xu JN, Chen YY, Shi HX.
europepmc   +1 more source

Implications of the choroid plexus in Niemann-Pick disease Type C neuropathogenesis. [PDF]

Brain Behav Immun
van Gool R, Cay M, Ren B, Brodeur K, Golden E, Goodlett B, Yang E, Reilly T, Hastings C, Berry-Kravis EM, Lee PY, Di Biase M, Cropley V, Pantelis C, Velakoulis D, Shinn AK, Al-Hertani W, Walterfang M, Upadhyay J.   +18 more
europepmc   +1 more source