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Статті в журналах з теми "Niemann-Pick Type C Disease"
Millichap, J. Gordon. "Niemann-Pick Disease Type C." Pediatric Neurology Briefs 3, no. 9 (September 1, 1989): 68. http://dx.doi.org/10.15844/pedneurbriefs-3-9-7.
Повний текст джерелаCobcroft, Ralph. "Type C Niemann-Pick disease." British Journal of Haematology 111, no. 3 (December 2000): 718. http://dx.doi.org/10.1046/j.1365-2141.2000.02536.x.
Повний текст джерелаTarugi, Patrizia, Giorgia Ballarini, Bruno Bembi, Carla Battisti, Silvia Palmeri, Francesca Panzani, Enza Di Leo, Cristina Martini, Antonio Federico, and Sebastiano Calandra. "Niemann-Pick type C disease." Journal of Lipid Research 43, no. 11 (August 16, 2002): 1908–19. http://dx.doi.org/10.1194/jlr.m200203-jlr200.
Повний текст джерелаCobcroft, Ralph. "Type C Niemann-Pick disease." British Journal of Haematology 111, no. 3 (December 2000): 718. http://dx.doi.org/10.1111/j.1365-2141.2000.02536.x.
Повний текст джерелаYu, Daozhan, Manju Swaroop, Mengqiao Wang, Ulrich Baxa, Rongze Yang, Yiping Yan, Turhan Coksaygan, et al. "Niemann–Pick Disease Type C." Journal of Biomolecular Screening 19, no. 8 (June 6, 2014): 1164–73. http://dx.doi.org/10.1177/1087057114537378.
Повний текст джерелаElleder, M., A. Jirásek, F. Šmíd, J. Ledvinová, and G. T. N. Besley. "Niemann-Pick disease type C." Acta Neuropathologica 66, no. 4 (December 1985): 325–36. http://dx.doi.org/10.1007/bf00690966.
Повний текст джерелаVanier, MT, and G. Millat. "Niemann-Pick disease type C." Clinical Genetics 64, no. 4 (September 15, 2003): 269–81. http://dx.doi.org/10.1034/j.1399-0004.2003.00147.x.
Повний текст джерелаLiscum, Laura, and Judeth J. Klansek. "Niemann–Pick disease type C." Current Opinion in Lipidology 9, no. 2 (April 1998): 131–35. http://dx.doi.org/10.1097/00041433-199804000-00009.
Повний текст джерелаTohyama, Jun, Mitsuhiro Kato, Tatsuya Koeda, and Kousaku Ohno. "Type C Niemann-Pick disease." Brain and Development 15, no. 4 (July 1993): 316–17. http://dx.doi.org/10.1016/0387-7604(93)90033-5.
Повний текст джерелаVanier, Marie. "Niemann-Pick disease type C." Molecular and Chemical Neuropathology 27, no. 1 (January 1996): 70–72. http://dx.doi.org/10.1007/bf02815049.
Повний текст джерелаДисертації з теми "Niemann-Pick Type C Disease"
Lloyd-Evans, Emyr. "Cell biology of Niemann-Pick type C disease." Thesis, University of Oxford, 2006. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.437185.
Повний текст джерелаColaço, Alexandria Nicole. "Niemann-Pick Type C disease : pathogenesis and therapy." Thesis, University of Oxford, 2016. https://ora.ox.ac.uk/objects/uuid:d75bf036-acc9-4c6f-89ad-7708d2996937.
Повний текст джерелаAl, Eisa Nada. "Evaluation of new therapies in Niemann-Pick type C disease." Thesis, University of Oxford, 2014. http://ora.ox.ac.uk/objects/uuid:1538a0d6-b08e-444c-900d-de3ea3834ca5.
Повний текст джерелаBlom, Titta S. "Characterisation of cellular defects in Niemann-Pick type C disease." Helsinki : University of Helsinki, 2003. http://ethesis.helsinki.fi/julkaisut/mat/bioti/vk/blom/.
Повний текст джерелаFluegel, Megan L. "Establishment of a Drosophila model of Niemann-Pick type C disease /." Thesis, Connect to this title online; UW restricted, 2006. http://hdl.handle.net/1773/5065.
Повний текст джерелаHughes, Michael. "The development of gene therapy for Niemann-Pick Type C disease." Thesis, University College London (University of London), 2017. http://discovery.ucl.ac.uk/10040556/.
Повний текст джерелаBrown, Gemma Louise. "Analysis of the Caenorhabditis elegans model of Niemann-Pick Type C Disease." Thesis, Open University, 2005. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.412394.
Повний текст джерелаBuard, Isabelle. "Relevance of glial cells in cellular mechanisms underlying the Niemann-Pick type C disease." Université Louis Pasteur (Strasbourg) (1971-2008), 2006. https://publication-theses.unistra.fr/public/theses_doctorat/2006/BUARD_Isabelle_2006.pdf.
Повний текст джерелаNiemann-Pick type C disease (NPC) is a rare autosomal recessive lysosomal storage disease due to mutations in the npc1 gene. NPC patients show progressive hepatosplenomegaly and central nervous system degeneration and abnormal intracellular accumulation of cholesterol and glycosphingolipids in different tissues. In the cerebellum, Purkinje cells are specifically affected showing abnormal dendritic morphology and a high rate of cell death. So far, it is unclear how a defect in NPC1, which is thought to mediate the intracellular transport of cholesterol, causes neurodegeneration. An important question is whether neurons die in a cell-autonomous manner or due to a breakdown of neuron-glia interactions. We have postulated that glia-derived cholesterol is necessary for the synapse formation and maintenance and that a defect in NPC1 causes loss of synapses and subsequently neuronal cell death. To test this hypothesis, we established new glia-free primary cultures of immunoisolated cerebellar neurons from postnatal mice. These cultures together with a mouse model of NPC allowed to determine the relevance of functional NPC1 in neurons and glial cells for synapse development and function. To study synapses, we recorded synaptic activity in granule cells (GCs) and Purkinje cells (PCs) by whole-cell patch-clamp. In the absence of glia, only GCs but not PCs formed synaptic connections. Glial cells promoted development of synapses between GCs and PCs independently from the presence of functional NPC1 in neurons or in glia. In contrast, absence of NPC1 in GCs and/or in glia impaired dramatically synaptogenesis between GCs. Based on our results, we hypothesize that the impairment and ultimately degeneration of PCs in NPC is caused by deficient synapse development or function in GCs
Buard, Isabelle Pfrieger Frank. "Relevance of glial cells in cellular mechanisms underlying the Niemann-Pick type C disease." Strasbourg : Université Louis Pasteur, 2006. http://eprints-scd-ulp.u-strasbg.fr:8080/554/01/BUARD2006.pdf.
Повний текст джерелаMaguire, Emily. "Investigating ion dyshomeostasis in Niemann-Pick disease type C, both in vitro and in vivo." Thesis, Cardiff University, 2017. http://orca.cf.ac.uk/111382/.
Повний текст джерелаКниги з теми "Niemann-Pick Type C Disease"
Bowler, Lynne Marie. Abnormal cholesterol metabolism in Niemann-Pick disease type C. Ottawa: National Library of Canada = Bibliothèque nationale du Canada, 1992.
Знайти повний текст джерелаSedel, Frédéric. Niemann-Pick Disease Type C. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199972135.003.0053.
Повний текст джерелаWraith. Understanding Niemann Pick Disease Type C and Its Potential Treatment. Wiley & Sons, Incorporated, John, 2008.
Знайти повний текст джерелаGeberhiwot, Tarekegn, and Carla E. M. Hollak. Niemann-Pick Disease Type B. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199972135.003.0048.
Повний текст джерелаЧастини книг з теми "Niemann-Pick Type C Disease"
Nadjar, Yann, and Marie T. Vanier. "Niemann-Pick Disease Type C." In Neurometabolic Hereditary Diseases of Adults, 121–46. Cham: Springer International Publishing, 2018. http://dx.doi.org/10.1007/978-3-319-76148-0_6.
Повний текст джерелаVanier, Marie T., and Marc C. Patterson. "Niemann-Pick Disease Type C." In Lysosomal Storage Disorders, 87–93. Oxford: John Wiley & Sons, Ltd, 2012. http://dx.doi.org/10.1002/9781118514672.ch11.
Повний текст джерелаBallout, Rami A. "Niemann-Pick Disease Type C (NPC)." In Genetic Syndromes, 1–10. Cham: Springer International Publishing, 2021. http://dx.doi.org/10.1007/978-3-319-66816-1_1339-1.
Повний текст джерелаVanier, M. T., P. Pentchev, C. Rodriguez-Lafrasse, and R. Rousson. "Niemann-Pick Disease Type C: An Update." In Journal of Inherited Metabolic Disease, 580–95. Dordrecht: Springer Netherlands, 1991. http://dx.doi.org/10.1007/978-94-011-9749-6_15.
Повний текст джерелаBi, Xiaoning, and Guanghong Liao. "Cholesterol in Niemann–Pick Type C disease." In Cholesterol Binding and Cholesterol Transport Proteins:, 319–35. Dordrecht: Springer Netherlands, 2010. http://dx.doi.org/10.1007/978-90-481-8622-8_11.
Повний текст джерелаMavridou, Irene, Evangelia Dimitriou, Marie T. Vanier, Lluisa Vilageliu, Daniel Grinberg, Philippe Latour, Athina Xaidara, et al. "The Spectrum of Niemann-Pick Type C Disease in Greece." In JIMD Reports, 41–48. Berlin, Heidelberg: Springer Berlin Heidelberg, 2017. http://dx.doi.org/10.1007/8904_2016_41.
Повний текст джерелаFederico, A., S. Palmeri, O. Van Diggelen, E. Ferrari, and G. C. Guazzi. "Juvenile Dystonia without Vertical Gaze Paralysis: Niemann—Pick Type C Disease." In Practical Developments in Inherited Metabolic Disease: DNA Analysis, Phenylketonuria and Screening for Congenital Adrenal Hyperplasia, 314–16. Dordrecht: Springer Netherlands, 1986. http://dx.doi.org/10.1007/978-94-009-4131-1_58.
Повний текст джерелаSokol, J., M. Vanier, and P. Pentchev. "Niemann-Pick Disease Type C: A Lesion in Intracellular Cholesterol Transport." In Lipid Storage Disorders, 169–73. Boston, MA: Springer US, 1988. http://dx.doi.org/10.1007/978-1-4613-1029-7_20.
Повний текст джерелаTraschütz, Andreas, and Michael Thomas Heneka. "Screening for Niemann-Pick Type C Disease in a Memory Clinic Cohort." In JIMD Reports, 109–14. Berlin, Heidelberg: Springer Berlin Heidelberg, 2018. http://dx.doi.org/10.1007/8904_2018_133.
Повний текст джерелаMellon, Synthia H., Wenhui Gong, and Marcus D. Schonemann. "Endogenous and Synthetic Neurosteroids in the Treatment of Niemann-Pick Type C Disease." In Hormones in Neurodegeneration, Neuroprotection, and Neurogenesis, 41–60. Weinheim, Germany: Wiley-VCH Verlag GmbH & Co. KGaA, 2011. http://dx.doi.org/10.1002/9783527633968.ch4.
Повний текст джерелаТези доповідей конференцій з теми "Niemann-Pick Type C Disease"
Veress, Alexander I., Jeffrey A. Weiss, Robert J. Gillies, Anton E. Bowden, Jean-Philippe Galons, and Richard D. Rabbitt. "Deformable Image Registration of Mouse Brain MRI Data Using Hyperelastic Warping." In ASME 2002 International Mechanical Engineering Congress and Exposition. ASMEDC, 2002. http://dx.doi.org/10.1115/imece2002-32375.
Повний текст джерелаFrank, Nathalie, and Jochen Baumkötter. "P 1111. Case Report of a Juvenile Patient with Niemann–Pick’s Disease Type C." In Abstracts of the 44th Annual Meeting of the Society for Neuropediatrics. Georg Thieme Verlag KG, 2018. http://dx.doi.org/10.1055/s-0038-1675979.
Повний текст джерелаPatterson, Marc C., Eugen Mengel, Rosalia M. Da Riol, Mireia Del Toro, Federica Deodato, Matthias Gautschi, Stephanie Grunewald, et al. "Persistent Effect of Arimoclomol in Patients with Niemann-Pick Disease Type C: 24-Month Results from an Open-Label Extension of a Pivotal Phase 2/3 Study." In Abstracts of the 46th Annual Meeting of the Society for Neuropediatrics. Georg Thieme Verlag KG, 2021. http://dx.doi.org/10.1055/s-0041-1739640.
Повний текст джерелаLeppmeier, L. "“Weak with Laughter”: Cataplexy as a Hint for Early Diagnosis of Niemann-Pick Type C (NPC)?" In Abstracts of the 46th Annual Meeting of the Society for Neuropediatrics. Georg Thieme Verlag KG, 2021. http://dx.doi.org/10.1055/s-0041-1739713.
Повний текст джерелаGriese, M., VR Aldana, F. Brasch, MM Cabrera, BJ Karam, G. Liebisch, P. Lohse, et al. "Presenting Respiratory Disease in Niemann-Pick Type-C2 Is Caused by Pulmonary Alveolar Proteinosis (PAP) with Defective Surfactant." In American Thoracic Society 2009 International Conference, May 15-20, 2009 • San Diego, California. American Thoracic Society, 2009. http://dx.doi.org/10.1164/ajrccm-conference.2009.179.1_meetingabstracts.a5964.
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