Academic literature on the topic 'Expanded repeat diseases'
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Journal articles on the topic "Expanded repeat diseases"
Polak, Urszula, Elizabeth McIvor, Sharon Y. R. Dent, Robert D. Wells, and Marek Napierala. "Expanded complexity of unstable repeat diseases." BioFactors 39, no. 2 (December 11, 2012): 164–75. http://dx.doi.org/10.1002/biof.1060.
Full textYang, Su, Huiming Yang, Luoxiu Huang, Luxiao Chen, Zhaohui Qin, Shihua Li, and Xiao-Jiang Li. "Lack of RAN-mediated toxicity in Huntington’s disease knock-in mice." Proceedings of the National Academy of Sciences 117, no. 8 (February 6, 2020): 4411–17. http://dx.doi.org/10.1073/pnas.1919197117.
Full textFujino, Yuzo, and Yoshitaka Nagai. "The molecular pathogenesis of repeat expansion diseases." Biochemical Society Transactions 50, no. 1 (December 23, 2021): 119–34. http://dx.doi.org/10.1042/bst20200143.
Full textLoureiro, Joana R., Ana F. Castro, Ana S. Figueiredo, and Isabel Silveira. "Molecular Mechanisms in Pentanucleotide Repeat Diseases." Cells 11, no. 2 (January 8, 2022): 205. http://dx.doi.org/10.3390/cells11020205.
Full textEyk, Clare L. van, Saumya E. Samaraweera, Andrew Scott, Dani L. Webber, David P. Harvey, Olivia Mecinger, Louise V. O’Keefe, et al. "Non-self mutation: double-stranded RNA elicits antiviral pathogenic response in a Drosophila model of expanded CAG repeat neurodegenerative diseases." Human Molecular Genetics 28, no. 18 (May 9, 2019): 3000–3012. http://dx.doi.org/10.1093/hmg/ddz096.
Full textMaritska, Ziske, Baharudin Baharudin, Ardy Santosa, Ching Leng Kee, Tan Yue Ming, and Sultana MH Faradz. "Screening A Trinucleotide Repeat Expansion: How precise PCR can be?" Bioscientia Medicina : Journal of Biomedicine and Translational Research 3, no. 3 (August 31, 2019): 34–40. http://dx.doi.org/10.32539/bsm.v3i3.94.
Full textO'Donovan, M. C., C. Guy, N. Craddock, T. Bowen, P. McKeon, A. Macedo, W. Maier, et al. "Confirmation of association between expanded CAG/CTG repeats and both schizophrenia and bipolar disorder." Psychological Medicine 26, no. 6 (November 1996): 1145–53. http://dx.doi.org/10.1017/s0033291700035868.
Full textGleason, Alec C., Ghanashyam Ghadge, Jin Chen, Yoshifumi Sonobe, and Raymond P. Roos. "Machine learning predicts translation initiation sites in neurologic diseases with nucleotide repeat expansions." PLOS ONE 17, no. 6 (June 1, 2022): e0256411. http://dx.doi.org/10.1371/journal.pone.0256411.
Full textGorbunova, Vera, Andrei Seluanov, Vincent Dion, Zoltan Sandor, James L. Meservy, and John H. Wilson. "Selectable System for Monitoring the Instability of CTG/CAG Triplet Repeats in Mammalian Cells." Molecular and Cellular Biology 23, no. 13 (July 1, 2003): 4485–93. http://dx.doi.org/10.1128/mcb.23.13.4485-4493.2003.
Full textZhao, Xiaonan, Daman Kumari, Carson J. Miller, Geum-Yi Kim, Bruce Hayward, Antonia G. Vitalo, Ricardo Mouro Pinto, and Karen Usdin. "Modifiers of Somatic Repeat Instability in Mouse Models of Friedreich Ataxia and the Fragile X-Related Disorders: Implications for the Mechanism of Somatic Expansion in Huntington’s Disease." Journal of Huntington's Disease 10, no. 1 (February 9, 2021): 149–63. http://dx.doi.org/10.3233/jhd-200423.
Full textDissertations / Theses on the topic "Expanded repeat diseases"
Chen, Chiung-Mei. "Investigating the functional consequences of expanded triplet repeat sequence in a mouse model of Huntington's Disease (HD)." Thesis, University of Glasgow, 2002. http://theses.gla.ac.uk/2114/.
Full textSamaraweera, Saumya Erandathi. "Double-stranded RNA as a pathogenic agent in a Drosophila model of dominant expanded repeat diseases." Thesis, 2013. http://hdl.handle.net/2440/90755.
Full textThesis (Ph.D.) -- University of Adelaide, School of Molecular and Biomedical Science, 2013
Books on the topic "Expanded repeat diseases"
Albin, Roger L., and Henry L. Paulson. Huntington Disease. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199937837.003.0007.
Full textStorey, Elsdon. The Expanded Polyglutamine Tract Spinocerebellar Ataxias. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199937837.003.0013.
Full textZuccato, Chiara, and Elena Cattaneo. Normal Function of Huntingtin. Oxford University Press, 2014. http://dx.doi.org/10.1093/med/9780199929146.003.0011.
Full textHughes, Alis, and Lesley Jones. Pathogenic Mechanisms. Oxford University Press, 2014. http://dx.doi.org/10.1093/med/9780199929146.003.0013.
Full textKay, Chris, Emily Fisher, and Michael R. Hayden. Epidemiology. Oxford University Press, 2014. http://dx.doi.org/10.1093/med/9780199929146.003.0007.
Full textWetzel, Ronald, and Rakesh Mishra. Structural Biology. Oxford University Press, 2014. http://dx.doi.org/10.1093/med/9780199929146.003.0012.
Full textLevin, Bruce Lubotsky, Ardis Hanson, and Peter D. Hurd, eds. Introduction to Public Health in Pharmacy. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780190238308.001.0001.
Full textBook chapters on the topic "Expanded repeat diseases"
Wetzel, Ronald. "Misfolding and Aggregation in Huntington Disease and Other Expanded Polyglutamine Repeat Diseases." In Protein Misfolding Diseases, 305–24. Hoboken, NJ, USA: John Wiley & Sons, Inc., 2010. http://dx.doi.org/10.1002/9780470572702.ch14.
Full textWinblad, Stefan, and Anne-Berit Ekström. "Myotonic Dystrophy." In Cognitive and Behavioral Abnormalities of Pediatric Diseases. Oxford University Press, 2010. http://dx.doi.org/10.1093/oso/9780195342680.003.0057.
Full textASHIZAWA, TETSUO. "Spinocerebellar Ataxia Type 10: A Disease Caused by an Expanded (ATTCT) n Pentanucleotide Repeat." In Genetic Instabilities and Neurological Diseases, 433–46. Elsevier, 2006. http://dx.doi.org/10.1016/b978-012369462-1/50030-2.
Full textRosenblatt, Adam. "Huntington’s Disease." In Psychiatric Aspects of Neurologic Diseases. Oxford University Press, 2008. http://dx.doi.org/10.1093/oso/9780195309430.003.0018.
Full textSHELBOURNE, PEGGY F., and DARREN G. MONCKTON. "Somatic Mosaicism of Expanded CAG·CTG Repeats in Humans and Mice: Dynamics, Mechanisms, and Consequences." In Genetic Instabilities and Neurological Diseases, 537–61. Elsevier, 2006. http://dx.doi.org/10.1016/b978-012369462-1/50036-3.
Full textMargolis, Russell L. "Dementia due to Huntington’s disease." In New Oxford Textbook of Psychiatry, edited by John R. Geddes, Nancy C. Andreasen, and Guy M. Goodwin, 448–53. Oxford University Press, 2020. http://dx.doi.org/10.1093/med/9780198713005.003.0045.
Full textRoss, Christopher A., Russell L. Margolis, Mark W. Becher, Jonathan D. Wood, Simone Engelender, Jillian K. Cooper, and Alan H. Sharp. "Chapter 28 Pathogenesis of neurodegenerative diseases associated with expanded glutamine repeats: New answers, new questions." In Progress in Brain Research, 397–419. Elsevier, 1998. http://dx.doi.org/10.1016/s0079-6123(08)64029-7.
Full textKopp, Peter A. "Fiesta and Famine." In Hoptopia. University of California Press, 2016. http://dx.doi.org/10.1525/california/9780520277472.003.0008.
Full textKeshavamurthy, Suresh, Vanessa M. Bazan, Thomas A. Tribble, and Joseph B. Zwischenberger. "Bicaval Dual-Lumen ECMO Cannulation for Lung Transplantation." In Extracorporeal Membrane Oxygenation, edited by Marc O. Maybauer, 405–14. Oxford University Press, 2022. http://dx.doi.org/10.1093/med/9780197521304.003.0040.
Full textPoole-Di Salvo, Elizabeth. "Intrauterine and Postnatal Exposure to Tobacco and Secondhand Smoke and Child Cognitive and Behavioral Development." In Cognitive and Behavioral Abnormalities of Pediatric Diseases. Oxford University Press, 2010. http://dx.doi.org/10.1093/oso/9780195342680.003.0070.
Full textConference papers on the topic "Expanded repeat diseases"
Fernandez, Paulo Eduardo Lahoz, Guilherme Diogo Silva, and Eduardo Genaro Mutarelli. "Studies across subspecialties of neurology (SON) report noninferiority of telemedicine (TM) compared with face-to-face intervention (FTF-I)." In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.680.
Full textFonseca, Igor Oliveira da, Stella de Angelis Trivellato, Mayara Apolinario Januzzi, Guilherme Drumond Jardini Anastacio, and Igor de Lima e. Teixeira. "Sign of the unilateral “Coca-Cola Bottle”: in addition to thyroid disease." In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.748.
Full textResende, Larissa Damian, Thiago de Abreu Silva Pinto, Henrique Marreiros Veloso Carneiro, and Fellype Matos do Prado. "Hirayama Disease: Case report of a rare case in Brazil." In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.678.
Full textBraga, Vinícius Lopes, Wladimir Bocca Vieira de Rezende Pinto, Bruno de Mattos Lombardi Badia, José Marcos Vieira de Albuquerque Filho, Igor Braga Farias, Paulo Victor Sgobbi de Souza, and Acary Souza Bulle Oliveira. "Spastic paraplegia type 73: expanding phenotype of the first two Brazilian families." In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.552.
Full textHyre, M. R., and R. M. Pulliam. "Balloon/Stent Expansion Dynamics in Stenotic Arteries." In ASME 2008 International Mechanical Engineering Congress and Exposition. ASMEDC, 2008. http://dx.doi.org/10.1115/imece2008-68060.
Full textReports on the topic "Expanded repeat diseases"
Dillon, M., B. Buddemeier, and K. Yu. Centers for Disease Control and Prevention (CDC) Radiation Hazard Scale: Expanded Data Product Feedback Report. Office of Scientific and Technical Information (OSTI), October 2021. http://dx.doi.org/10.2172/1883032.
Full textToloo, Sam, Ruvini Hettiarachchi, David Lim, and Katie Wilson. Reducing Emergency Department demand through expanded primary healthcare practice: Full report of the research and findings. Queensland University of Technology, January 2022. http://dx.doi.org/10.5204/rep.eprints.227473.
Full textRogers, Caroline. A synthesis of coral reef research at Buck Island Reef National Monument and Salt River Bay National Historical Park and Ecological Preserve, St. Croix, U.S. Virgin Islands: 1961 to 2022. National Park Service, September 2022. http://dx.doi.org/10.36967/2294235.
Full textWillits, Daniel H., Meir Teitel, Josef Tanny, Mary M. Peet, Shabtai Cohen, and Eli Matan. Comparing the performance of naturally ventilated and fan-ventilated greenhouses. United States Department of Agriculture, March 2006. http://dx.doi.org/10.32747/2006.7586542.bard.
Full textPlant Protection and Quarantine: Helping U.S. Agriculture Thrive--Across the Country and Around the World, 2016 Annual Report. U.S. Department of Agriculture, Animal and Plant Health Inspection Service, March 2017. http://dx.doi.org/10.32747/2017.7207241.aphis.
Full textCommunity-based AIDS prevention and care in Africa—Dissemination of Phase I findings: Report of five national workshops. Population Council, 1995. http://dx.doi.org/10.31899/hiv1995.1000.
Full textReproductive decisionmaking in the context of HIV/AIDS in Ndola, Zambia. Population Council, 1999. http://dx.doi.org/10.31899/rh1999.1018.
Full textSafeguarding through science: Center for Plant Health Science and Technology 2008 Accomplishments. U.S. Department of Agriculture, Animal and Plant Health Inspection Service, December 2009. http://dx.doi.org/10.32747/2009.7296842.aphis.
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