Results 151 to 160 of about 25,942 (185)

A Potential Role for the Amyloid Precursor Protein in the Regulation of Interferon Signaling, Cholesterol Homeostasis, and Tau Phosphorylation in Niemann-Pick Disease Type C. [PDF]

Genes (Basel)
Sanchez KL, Shin SD, Rajagopal NP, White JB, Currais A, Soriano-Castell D, Maher P, Soriano S.   +7 more
europepmc   +1 more source

Evaluation of the safety and efficacy of miglustat for the treatment of Chinese patients with Niemann-Pick disease type C: A prospective, open-label, single-arm, phase IV trial. [PDF]

Intractable Rare Dis Res
Zhang H, Xiong H, Wei C, Yi M, Che Y, Zhuo J, Li X.   +6 more
europepmc   +1 more source

Convergent Validity of the Fine Motor, Speech, and Cognitive Domains of the 5-Domain Niemann-Pick Disease Type C Clinical Severity Scale. [PDF]

J Child Neurol
Farmer C, Lewis M, Farhat N, Robbins KP, Joseph L, Albert OK, Bianconi S, Hoffmann A, Giserman-Kiss I, Alexander DM, Thurm A, Porter FD, Kravis EB.   +12 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

A Potentially Treatable Genetic Disorder Which Presented with Neuropsychiatric Involvement and Drug-Resistant Focal Epilepsy: Niemann-Pick Disease Type C. [PDF]

Noro Psikiyatr Ars
Altındağ E, Alanay Y, Baykan B, Dervent A.   +3 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

Graphene Microelectrode Arrays, 4D Structured Illumination Microscopy, and a Machine Learning Spike Sorting Algorithm Permit the Analysis of Ultrastructural Neuronal Changes During Neuronal Signaling in a Model of Niemann-Pick Disease Type C. [PDF]

Adv Sci (Weinh)
Lu M, Hui E, Brockhoff M, Träuble J, Fernandez-Villegas A, Burton OJ, Lamb J, Ward E, Woodhams PJ, Tadbier W, Läubli NF, Hofmann S, Kaminski CF, Lombardo A, Kaminski Schierle GS.   +14 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

Differential Interferon Signaling Regulation and Oxidative Stress Responses in the Cerebral Cortex and Cerebellum Could Account for the Spatiotemporal Pattern of Neurodegeneration in Niemann-Pick Disease Type C. [PDF]

Genes (Basel)
Tolan AJ, Sanchez KL, Shin SD, White JB, Currais A, Soriano-Castell D, Wilson CG, Maher P, Soriano S.   +8 more
europepmc   +1 more source