Results 161 to 170 of about 12,273 (193)

Maternal immune activation modifies the course of Niemann-pick disease, type C1 in a gender specific manner. [PDF]

Mol Genet Metab, 2020
Cougnoux A, Fellmeth M, Gu T, Davidson CD, Gibson AL, Pavan WJ, Porter FD.   +6 more
europepmc   +1 more source

A murine Niemann-Pick C1 I1061T knock-In model recapitulates the pathological features of the most prevalent human disease allele [PDF]

, 2015
Chacko, Anita, Chen, Zhouji, et al,, Fujiwara, Hideji, Ory, Daniel S, Praggastis, Maria, Schaffer, Jean E, Sidhu, Rohini, Tortelli, Brett, Zhang, Jessie   +9 more
core   +2 more sources

Current Challenges in Understanding the Cellular and Molecular Mechanisms in Niemann-Pick Disease Type C1. [PDF]

Int J Mol Sci, 2019
Bräuer AU, Kuhla A, Holzmann C, Wree A, Witt M.   +4 more
europepmc   +1 more source

Experimental neurotransplantation treatment for hereditary cerebellar ataxias [PDF]

, 2016
Jan Cendelin
core   +1 more source

Identification of Novel Pathways Associated with Patterned Cerebellar Purkinje Neuron Degeneration in Niemann-Pick Disease, Type C1. [PDF]

Int J Mol Sci, 2019
Martin KB, Williams IM, Cluzeau CV, Cougnoux A, Dale RK, Iben JR, Cawley NX, Wassif CA, Porter FD.   +8 more
europepmc   +1 more source

Main Olfactory and Vomeronasal Epithelium Are Differently Affected in Niemann-Pick Disease Type C1. [PDF]

Int J Mol Sci, 2018
Witt M, Thiemer R, Meyer A, Schmitt O, Wree A.   +4 more
europepmc   +1 more source

Relative acidic compartment volume as a lysosomal storage disorder-associated biomarker [PDF]

, 2014
Al Eisa, Nada, Cousins, Alison, et al.,, Hartung, Ralf, Hendriksz, Christian J, Jiang, Xuntian, Lachmann, Robin H, Mengel, Eugen, Ory, Daniel S, Sidhu, Rohini, Simmons, Louise, Smith, David A, Speak, Anneliese O, te Vruchte, Danielle, Wallom, Kerri L   +14 more
core   +1 more source

Evaluation of Two Liver Treatment Strategies in a Mouse Model of Niemann-Pick-Disease Type C1. [PDF]

Int J Mol Sci, 2018
Ebner L, Gläser A, Bräuer A, Witt M, Wree A, Rolfs A, Frank M, Vollmar B, Kuhla A.   +8 more
europepmc   +1 more source

Expanded access with intravenous hydroxypropyl-β-cyclodextrin to treat children and young adults with Niemann-Pick disease type C1: a case report analysis. [PDF]

Orphanet J Rare Dis, 2019
Hastings C, Vieira C, Liu B, Bascon C, Gao C, Wang RY, Casey A, Hrynkow S.   +7 more
europepmc   +1 more source

Early co-occurrence of a neurologic-psychiatric disease pattern in Niemann-Pick type C disease: a retrospective Swiss cohort study [PDF]

core   +1 more source