Academic literature on the topic 'Niemann Pick Type C'
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Journal articles on the topic "Niemann Pick Type C"
Patterson, M. C., and P. G. Pentchev. "Niemann-Pick; Type C." Neurology 46, no. 6 (June 1, 1996): 1785–86. http://dx.doi.org/10.1212/wnl.46.6.1785-b.
Full textMillichap, 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.
Full textCobcroft, 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.
Full textTarugi, 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.
Full textCobcroft, 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.
Full textYu, 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.
Full textElleder, 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.
Full textVanier, 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.
Full textLiscum, 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.
Full textTohyama, 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.
Full textDissertations / Theses on the topic "Niemann Pick Type C"
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.
Full textColaço, 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.
Full textAl, 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.
Full textBlom, 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/.
Full textRAQUIN, JANICK. "Maladie de niemann-pick type c forme juvenile : a propos d'un cas." Reims, 1994. http://www.theses.fr/1994REIMM032.
Full textAubonnet, Patrick. "Nouvelles approches dans le diagnostic du type C de la maladie de Niemann-Pick : à propos d'un cas clinique." Nice, 1990. http://www.theses.fr/1990NICE6524.
Full textFluegel, 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.
Full textHughes, 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/.
Full textBrown, 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.
Full textBuard, 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.
Full textNiemann-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
Books on the topic "Niemann Pick Type C"
Bowler, Lynne Marie. Abnormal cholesterol metabolism in Niemann-Pick disease type C. Ottawa: National Library of Canada = Bibliothèque nationale du Canada, 1992.
Find full textSedel, Frédéric. Niemann-Pick Disease Type C. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199972135.003.0053.
Full textWraith. Understanding Niemann Pick Disease Type C and Its Potential Treatment. Wiley & Sons, Incorporated, John, 2008.
Find full textGeberhiwot, 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.
Full textBook chapters on the topic "Niemann Pick Type C"
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.
Full textVanier, 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.
Full textBallout, 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.
Full textBi, 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.
Full textVanier, 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.
Full textMavridou, 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.
Full textFederico, 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.
Full textSokol, 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.
Full textSiemes, H., M. T. Vanier, and K. Harzer. "Morbus Niemann-Pick Typ C — Auf Umwegen zur Diagnose." In Aktuelle Neuropädiatrie 1989, 109–13. Berlin, Heidelberg: Springer Berlin Heidelberg, 1990. http://dx.doi.org/10.1007/978-3-642-93411-7_18.
Full textTraschütz, 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.
Full textConference papers on the topic "Niemann Pick Type C"
Leppmeier, 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.
Full textVeress, 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.
Full textPatterson, 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.
Full textSURINLERT, PIYAPORN. "IDENTIFICATION AND EXPRESSION OF NIEMANN PICK TYPE C2 LIKE GENE IN MALE REPRODUCTIVE TRACTS OF MACROBRACHIUM ROSENBERGII." In European Microscopy Congress 2020. Royal Microscopical Society, 2021. http://dx.doi.org/10.22443/rms.emc2020.68.
Full textGriese, 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.
Full textFrank, 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.
Full textEberlein, C., M. Deest, A. Das, S. Bleich, and H. Frieling. "Cariprazine in the treatment of a long lasting psychosis in a female patient with Morbus Niemann-Pick Type B." In Abstracts of the 2nd Symposium of the Arbeitsgemeinschaft für Neuropsychopharmakologie und Pharmakopsychiatrie (AGNP) and Deutsche Gesellschaft für Biologische Psychiatrie (DGBP). Georg Thieme Verlag KG, 2020. http://dx.doi.org/10.1055/s-0039-3403038.
Full textSchöler, David, JanPhilipp Köhler, Petra May, Eva Thimm, Ertan Mayatepek, Tom Luedde, and Stephan vom Dahl. "Niemann-Pick type B as ultra-rare differential diagnosis in hepatomegaly, steatohepatitis, low HDL and increased plasma chitotriosidase activity: three case reports." In 38. Jahrestagung der Deutsche Arbeitsgemeinschaft zum Studium der Leber. Georg Thieme Verlag, 2022. http://dx.doi.org/10.1055/s-0041-1740750.
Full textLee, Po-Chih. "One Novel Isoconstrained Parallel Robot With Schoenflies-Motion." In ASME 2013 International Design Engineering Technical Conferences and Computers and Information in Engineering Conference. American Society of Mechanical Engineers, 2013. http://dx.doi.org/10.1115/detc2013-12502.
Full textKang, Sukhvinder, David Miller, and John Cennamo. "Closed Loop Liquid Cooling for High Performance Computer Systems." In ASME 2007 InterPACK Conference collocated with the ASME/JSME 2007 Thermal Engineering Heat Transfer Summer Conference. ASMEDC, 2007. http://dx.doi.org/10.1115/ipack2007-33870.
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