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1دورية أكاديمية
المؤلفون: Deepa S. Rajan, Sukhleen Kour, Tyler R. Fortuna, Margot A. Cousin, Sarah S. Barnett, Zhiyv Niu, Dusica Babovic-Vuksanovic, Eric W. Klee, Brian Kirmse, Micheil Innes, Siri Lynne Rydning, Kaja K. Selmer, Magnus Dehli Vigeland, Anne Kjersti Erichsen, Andrea H. Nemeth, Francisca Millan, Catherine DeVile, Katherine Fawcett, Adrien Legendre, David Sims, Ricardo Parolin Schnekenberg, Lydie Burglen, Sandra Mercier, Somayeh Bakhtiari, Rosario Francisco-Velilla, Azman Embarc-Buh, Encarnacion Martinez-Salas, Kristen Wigby, Jerica Lenberg, Jennifer R. Friedman, Michael C. Kruer, Udai Bhan Pandey
المصدر: Frontiers in Cell and Developmental Biology, Vol 10 (2022)
مصطلحات موضوعية: Gemin5, ataxia, cerebellar atrophy, developmental delay, neurodegeneration, cell death, Biology (General), QH301-705.5
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Stefano Lise, Yvonne Clarkson, Emma Perkins, Alexandra Kwasniewska, Elham Sadighi Akha, Ricardo Parolin Schnekenberg, Daumante Suminaite, Jilly Hope, Ian Baker, Lorna Gregory, Angie Green, Chris Allan, Sarah Lamble, Sandeep Jayawant, Gerardine Quaghebeur, M Zameel Cader, Sarah Hughes, Richard J E Armstrong, Alexander Kanapin, Andrew Rimmer, Gerton Lunter, Iain Mathieson, Jean-Baptiste Cazier, David Buck, Jenny C Taylor, David Bentley, Gilean McVean, Peter Donnelly, Samantha J L Knight, Mandy Jackson, Jiannis Ragoussis, Andrea H Németh
المصدر: PLoS Genetics, Vol 8, Iss 12, p e1003074 (2012)
وصف الملف: electronic resource
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المؤلفون: Deepa S, Rajan, Sukhleen, Kour, Tyler R, Fortuna, Margot A, Cousin, Sarah S, Barnett, Zhiyv, Niu, Dusica, Babovic-Vuksanovic, Eric W, Klee, Brian, Kirmse, Micheil, Innes, Siri Lynne, Rydning, Kaja K, Selmer, Magnus Dehli, Vigeland, Anne Kjersti, Erichsen, Andrea H, Nemeth, Francisca, Millan, Catherine, DeVile, Katherine, Fawcett, Adrien, Legendre, David, Sims, Ricardo Parolin, Schnekenberg, Lydie, Burglen, Sandra, Mercier, Somayeh, Bakhtiari, Rosario, Francisco-Velilla, Azman, Embarc-Buh, Encarnacion, Martinez-Salas, Kristen, Wigby, Jerica, Lenberg, Jennifer R, Friedman, Michael C, Kruer, Udai Bhan, Pandey
المصدر: Frontiers in cell and developmental biology. 10
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::5174e5128f2b13628791665353705fe7
https://pubmed.ncbi.nlm.nih.gov/35295849 -
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المؤلفون: Lauren M. Watson, Elizabeth Bamber, Ricardo Parolin Schnekenberg, Jonathan Williams, Conceição Bettencourt, Sandeep Jayawant, Jennifer Lickiss, Katherine Fawcett, Samuel Clokie, Yvonne Wallis, Penny Clouston, David Sims, Henry Houlden, Esther B.E. Becker, Andrea H. Németh
المصدر: American Journal of Human Genetics
The American Journal of Human Geneticsمصطلحات موضوعية: Male, cerebellum, Mutation, Missense, glutamate, Receptors, Metabotropic Glutamate, 03 medical and health sciences, 0302 clinical medicine, atrophy, Report, nitazoxanide, Genetics, Humans, Spinocerebellar Ataxias, mGluR1, Genetics (clinical), 030304 developmental biology, 0303 health sciences, calcium, Antiparasitic Agents, ataxia, Correction, Nitro Compounds, Pedigree, Thiazoles, HEK293 Cells, Homer, Gene Expression Regulation, intellectual disability, Purkinje cells, 030220 oncology & carcinogenesis, Female, 030217 neurology & neurosurgery, Signal Transduction