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 ResZhang H +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 NeurolFarmer C +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 ArsAltındağ E +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 +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 +8 more
europepmc +1 more source