Results 171 to 180 of about 24,478,248 (209)

Spiral analysis in Niemann‐Pick disease type C

Movement Disorders, 2009
AbstractSpiral analysis is a computerized method of analyzing upper limb motor physiology through the quantification of spiral drawing. The objective of this study was to determine whether spirals drawn by patients with Niemann‐Pick disease type C (NPC) could be distinguished from those of controls, and to physiologically characterize movement ...
Hsu, Annie W., Piboolnurak, Panida A., Floyd, Alicia G., Yu, Qiping P., Wraith, James E., Patterson, Marc C., Pullman, Seth L.   +6 more
openaire   +3 more sources

Type C Niemann-Pick disease in a boxer dog

Acta Neuropathologica, 1993
Pathological and biochemical studies were performed on a 9-month-old boxer dog with progressive neurological abnormality. Histological examination revealed marked neuronal storage throughout the central nervous system and histiocytic storage in the reticuloendothelial system.
M, Kuwamura, T, Awakura, A, Shimada, T, Umemura, K, Kagota, N, Kawamura, M, Naiki   +6 more
openaire   +2 more sources

Conjunctival Ultrastructure in Niemann-Pick Disease Type C

American Journal of Ophthalmology, 1980
A 5-year-old girl with Niemann-Pick disease type C had normal eyes but the conjunctival ultrastructure was abnormal. Lamellar cytoplasmic bodies, characteristic of Niemann-Pick disease, were found in epithelial cells, stromal fibroblasts, endothelial cells, and pericytes of the stromal capillaries.
S, Merin, N, Livni, S, Yatziv
openaire   +2 more sources

Niemann-Pick Type C

Quezado Z, Miao N: Niemann-Pick Type C, 2022
Quezado, Zenaide, Miao, Ning
openaire   +1 more source

The Neuropsychiatry of Niemann-Pick Type C Disease in Adulthood

The Journal of Neuropsychiatry and Clinical Neurosciences, 2006
Psychotic symptoms occur in a variety of medical and neurological conditions. The authors describe three young men with a variant form of Niemann-Pick type C disease, a neurodegenerative disorder related to abnormal intracellular cholesterol metabolism, who presented with psychosis in early adulthood.
Mark, Walterfang, Michael, Fietz, Michael, Fahey, Danny, Sullivan, Pamela, Leane, Dan I, Lubman, Dennis, Velakoulis   +6 more
openaire   +2 more sources

Clinical spectrum of Niemann‐Pick disease type C

Neurology, 1989
Analysis of the neurologic symptomatology in 22 patients with Niemann-Pick disease type C revealed 3 phenotypes: (1) an early-onset, rapidly progressive form associated with severe hepatic dysfunction and psychomotor delay during infancy and later with supranuclear vertical gaze paresis, ataxia, marked spasticity, and dementia; (2) a delayed-onset ...
J. K. Fink, M. R. Filling-Katz, J. Sokol, D. G. Cogan, A. Pikus, B. Sonies, B. Soong, P. G. Pentchev, M. E. Comly, R. O. Brady, N. W. Barton   +10 more
openaire   +2 more sources

Pulmonary involvement in Niemann-Pick C type 1

European Journal of Pediatrics, 2018
Niemann-Pick disease type C (NPC) is a lysosomal storage disorder caused by mutations in either NPC-1 or NPC-2 genes, resulting in abnormal intracellular cholesterol trafficking. The estimated prevalence of NPC disease is 1: 120,000-150,000. Lung involvement has been described in only few patients with NPC, mostly NPC2.
Orna, Staretz-Chacham, M, Aviram, I, Morag, A, Goldbart, E, Hershkovitz   +4 more
openaire   +2 more sources

Structural Insight into Eukaryotic Sterol Transport through Niemann-Pick Type C Proteins

Cell, 2019
Stephen Muench, Bjørn Panyella Pedersen, Shaun Rawson   +2 more
exaly  

Methyl-β-cyclodextrin restores impaired autophagy flux in Niemann-Pick C1-deficient cells through activation of AMPK

Autophagy, 2017
Forbes D Porter, Christopher A Wassif
exaly  

Niemann-Pick disease type C

2022
openaire   +1 more source