Academic literature on the topic 'R275W'
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Journal articles on the topic "R275W"
Wang, C., R. Lu, X. Ouyang, M. W. L. Ho, W. Chia, F. Yu, and K. L. Lim. "Drosophila Overexpressing Parkin R275W Mutant Exhibits Dopaminergic Neuron Degeneration and Mitochondrial Abnormalities." Journal of Neuroscience 27, no. 32 (August 8, 2007): 8563–70. http://dx.doi.org/10.1523/jneurosci.0218-07.2007.
Full textCarr, Jonathan, Ilaria Guella, Chelsea Szu-Tu, Sihaam Boolay, Brigitte Glanzmann, Matthew J. Farrer, and Soraya Bardien. "Double homozygous mutations (R275W and M432V) in the ParkinGene associated with late-onset Parkinson's disease." Movement Disorders 31, no. 3 (February 10, 2016): 423–25. http://dx.doi.org/10.1002/mds.26524.
Full textRuffmann, Claudio, Michela Zini, Stefano Goldwurm, Manuela Bramerio, Sonia Spinello, Damiana Rusconi, Marcello Gambacorta, Fabrizio Tagliavini, Gianni Pezzoli, and Giorgio Giaccone. "Lewy body pathology and typical Parkinson disease in a patient with a heterozygous (R275W) mutation in the Parkin gene (PARK2)." Acta Neuropathologica 123, no. 6 (May 4, 2012): 901–3. http://dx.doi.org/10.1007/s00401-012-0991-7.
Full textNovak, Gabriela, Steven Finkbeiner, Gaia Skibinski, Michela Bernini, Cristina Donato, and Alexander Skupin. "Generation of two human induced pluripotent stem cell lines from fibroblasts of Parkinson’s disease patients carrying the ILE368ASN mutation in PINK1 (LCSBi002) and the R275W mutation in Parkin (LCSBI004)." Stem Cell Research 61 (May 2022): 102765. http://dx.doi.org/10.1016/j.scr.2022.102765.
Full textJennings, Juliet E., Marianthi Georgitsi, Ian Holdaway, Adrian F. Daly, Maria Tichomirowa, Albert Beckers, Lauri A. Aaltonen, Auli Karhu, and Fergus J. Cameron. "Aggressive pituitary adenomas occurring in young patients in a large Polynesian kindred with a germline R271W mutation in the AIP gene." European Journal of Endocrinology 161, no. 5 (November 2009): 799–804. http://dx.doi.org/10.1530/eje-09-0406.
Full textAllen, Simon, Adel M. Abuzenadah, Joanna Hinks, Joanna L. Blagg, Turkiz Gursel, Jørgen Ingerslev, Anne C. Goodeve, Ian R. Peake, and Martina E. Daly. "A novel von Willebrand disease–causing mutation (Arg273Trp) in the von Willebrand factor propeptide that results in defective multimerization and secretion." Blood 96, no. 2 (July 15, 2000): 560–68. http://dx.doi.org/10.1182/blood.v96.2.560.
Full textAllen, Simon, Adel M. Abuzenadah, Joanna Hinks, Joanna L. Blagg, Turkiz Gursel, Jørgen Ingerslev, Anne C. Goodeve, Ian R. Peake, and Martina E. Daly. "A novel von Willebrand disease–causing mutation (Arg273Trp) in the von Willebrand factor propeptide that results in defective multimerization and secretion." Blood 96, no. 2 (July 15, 2000): 560–68. http://dx.doi.org/10.1182/blood.v96.2.560.014k01_560_568.
Full textTan, Manuela M. X., Naveed Malek, Michael A. Lawton, Leon Hubbard, Alan M. Pittman, Theresita Joseph, Jason Hehir, et al. "Genetic analysis of Mendelian mutations in a large UK population-based Parkinson’s disease study." Brain 142, no. 9 (July 19, 2019): 2828–44. http://dx.doi.org/10.1093/brain/awz191.
Full textMoreau, Adrien, Pascal Gosselin-Badaroudine, Lucie Delemotte, Michael L. Klein, and Mohamed Chahine. "Gating pore currents are defects in common with two Nav1.5 mutations in patients with mixed arrhythmias and dilated cardiomyopathy." Journal of General Physiology 145, no. 2 (January 26, 2015): 93–106. http://dx.doi.org/10.1085/jgp.201411304.
Full textAndolfo, Immacolata, Roberta Russo, Francesco Manna, Marica Lisa Salve, Alok K. Sharma, Seth L. Alper, Lucia De Franceschi, and Achille Iolascon. "Detection of Familial Pseudohyperkalemia Among Italian Blood Donors By Genetic Screening for the R276W Mutation in ABCB6." Blood 126, no. 23 (December 3, 2015): 2132. http://dx.doi.org/10.1182/blood.v126.23.2132.2132.
Full textDissertations / Theses on the topic "R275W"
Sevegnani, Martina. "The role of Parkin R274W in genetic forms of Parkinson’s disease." Doctoral thesis, Università degli studi di Trento, 2022. https://hdl.handle.net/11572/361162.
Full textCrawford, Sean A. "Obesity-associated diabetes, the human AMPKgamma3 R225W mutation and skeletal muscle metabolism." Thesis, University of Ottawa (Canada), 2009. http://hdl.handle.net/10393/28215.
Full textManeva, Galina Stoyanova [Verfasser]. "Nijmegen Breakage Syndrom (NBS) : Krebsrisiko bei Heterozygotie für die Mutationen 657del5 und R215W / Galina Stoyanova Maneva." Berlin : Medizinische Fakultät Charité - Universitätsmedizin Berlin, 2011. http://d-nb.info/1026174643/34.
Full textRayneault, Nathaly. "L'expropriation municipale québécoise : mise en oeuvre et contrôle." Thesis, Université Laval, 2008. http://www.theses.ulaval.ca/2008/25208/25208.pdf.
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