نتائج البحث - "Rábano, A. (Alberto)"

1

دورية أكاديمية

Whole-Genome Sequencing Analysis Reveals New Susceptibility Loci and Structural Variants Associated with Progressive Supranuclear Palsy

المؤلفون: Wang, Hui, Chang, Timothy S., Dombroski, Beth A., Cheng, Po-Liang, Patil, Vishakha, Valiente-Banuet, Leopoldo, Farrell, Kurt, Mclean, Catriona, Molina-Porcel, Laura, Rajput, Alex, De Deyn, Peter Paul, Le Bastard, Nathalie, Gearing, Marla, Donker Kaat, Laura, Van Swieten, John C., Dopper, Elise, Ghetti, Bernardino F., Newell, Kathy L., Troakes, Claire, de Yébenes, Justo G., Rábano-Gutierrez, Alberto, Meller, Tina, Oertel, Wolfgang H., Respondek, Gesine, Stamelou, Maria, Arzberger, Thomas, Roeber, Sigrun, Müller, Ulrich, Hopfner, Franziska, Pastor, Pau, Brice, Alexis, Durr, Alexandra, Le Ber, Isabelle, Beach, Thomas G., Serrano, Geidy E., Hazrati, Lili-Naz, Litvan, Irene, Rademakers, Rosa, Ross, Owen A., Galasko, Douglas, Boxer, Adam L., Miller, Bruce L., Seeley, Willian W., Van Deerlin, Vivanna M., Lee, Edward B., White, Charles L., III, Morris, Huw, de Silva, Rohan, Crary, John F., Goate, Alison M., Friedman, Jeffrey S., Leung, Yuk Yee, Coppola, Giovanni, Naj, Adam C., Wang, Li-San, PSP genetics study group, Dickson, Dennis W., Höglinger, Günter U., Schellenberg, Gerard D., Geschwind, Daniel H., Lee, Wan-Ping

المساهمون: Pathology and Laboratory Medicine, School of Medicine

المصدر: PMC

مصطلحات موضوعية: Apolipoprotein E (APOE), Genome-Wide Association Study (GWAS), Progressive Supranuclear Palsy (PSP), Structural Variants (SVs), Whole-Genome Sequencing (WGS)

وصف الملف: application/pdf

العلاقة: Wang H, Chang TS, Dombroski BA, et al. Whole-Genome Sequencing Analysis Reveals New Susceptibility Loci and Structural Variants Associated with Progressive Supranuclear Palsy. Preprint. medRxiv. 2024;2023.12.28.23300612. Published 2024 Jan 30. doi:10.1101/2023.12.28.23300612; https://hdl.handle.net/1805/40967Test

الإتاحة: https://doi.org/10.1101/2023.12.28.23300612Test
https://hdl.handle.net/1805/40967Test

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2

دورية أكاديمية

Association of Structural Forms of 17q21.31 with the Risk of Progressive Supranuclear Palsy and MAPT Sub-haplotypes

المؤلفون: Wang, Hui, Chang, Timothy S., Dombroski, Beth A., Cheng, Po-Liang, Si, Ya-Qin, Tucci, Albert, Patil, Vishakha, Valiente-Banuet, Leopoldo, Farrell, Kurt, Mclean, Catriona, Molina-Porcel, Laura, Alex, Rajput, De Deyn, Peter Paul, Le Bastard, Nathalie, Gearing, Marla, Donker Kaat, Laura, Van Swieten, John C., Dopper, Elise, Ghetti, Bernardino F., Newell, Kathy L., Troakes, Claire, de Yébenes, Justo G., Rábano-Gutierrez, Alberto, Meller, Tina, Oertel, Wolfgang H., Respondek, Gesine, Stamelou, Maria, Arzberger, Thomas, Roeber, Sigrun, Müller, Ulrich, Hopfner, Franziska, Pastor, Pau, Brice, Alexis, Durr, Alexandra, Le Ber, Isabelle, Beach, Thomas G., Serrano, Geidy E., Hazrati, Lili-Naz, Litvan, Irene, Rademakers, Rosa, Ross, Owen A., Galasko, Douglas, Boxer, Adam L., Miller, Bruce L., Seeley, Willian W., Van Deerlin, Vivianna M., Lee, Edward B., White, Charles L., III, Morris, Huw R., de Silva, Rohan, Crary, John F., Goate, Alison M., Friedman, Jeffrey S., Leung, Yuk Yee, Coppola, Giovanni, Naj, Adam C., Wang, Li-San, PSP genetics study group, Dickson, Dennis W., Höglinger, Günter U., Tzeng, Jung-Ying, Geschwind, Daniel H., Schellenberg, Gerard D., Lee, Wan-Ping

المساهمون: Pathology and Laboratory Medicine, School of Medicine

المصدر: PMC

مصطلحات موضوعية: Copy number variation (CNV), Progressive Supranuclear Palsy (PSP), H1 and H2 haplotypes

وصف الملف: application/pdf

العلاقة: Wang H, Chang TS, Dombroski BA, et al. Association of Structural Forms of 17q21.31 with the Risk of Progressive Supranuclear Palsy and MAPT Sub-haplotypes. Preprint. medRxiv. 2024;2024.02.26.24303379. Published 2024 Feb 28. doi:10.1101/2024.02.26.24303379; https://hdl.handle.net/1805/41856Test

الإتاحة: https://doi.org/10.1101/2024.02.26.24303379Test
https://hdl.handle.net/1805/41856Test

View record in BASE