検索結果 - Shankaracharya,
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Role of Lysosomal Gene Variants in Modulating <scp><i>GBA</i></scp>‐Associated Parkinson's Disease Risk 著者: Letizia Straniero, Valeria Rimoldi, Edoardo Monfrini, Salvatore Bonvegna, Giada Melistaccio, Julie Lake, Giulia Soldà, Massimo Aureli, Shankaracharya, Pamela Keagle, Tatiana Foroud, John E. Landers, Cornelis Blauwendraat, Anna Zecchinelli, Roberto Cilia, Alessio Di Fonzo, Gianni Pezzoli, Stefano Duga, Rosanna Asselta
出版事項 2022Revisão -
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Role of Lysosomal Gene Variants in Modulating GBA ‐Associated Parkinson's Disease Risk 著者: Straniero, Letizia, Rimoldi, Valeria, Monfrini, Edoardo, Bonvegna, Salvatore, Melistaccio, Giada, Lake, Julie, Soldà, Giulia, Aureli, Massimo, Shankaracharya, Keagle, Pamela, Foroud, Tatiana, Landers, John E., Blauwendraat, Cornelis, Zecchinelli, Anna, Cilia, Roberto, Di Fonzo, Alessio, Pezzoli, Gianni, Duga, Stefano, Asselta, Rosanna
出版事項 2022テキスト -
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ALS-associated KIF5A mutations abolish autoinhibition resulting in a toxic gain of function 著者: Desiree M. Baron, Adam R. Fenton, Sara Sáez-Atiénzar, Anthony Giampetruzzi, Aparna Sreeram, Shankaracharya, Pamela Keagle, Victoria R. Doocy, Nathan J. Smith, Eric Danielson, Megan Andresano, Mary C. McCormack, Jaqueline Garcia, Valérie Bercier, Ludo Van Den Bosch, Jonathan R. Brent, Claudia Fallini, Bryan J. Traynor, Erika L.F. Holzbaur, John E. Landers
出版事項 2022Artigo -
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Systematic rare variant analyses identify RAB32 as a susceptibility gene for familial Parkinson’s disease 著者: Paul J. Hop, Dongbing Lai, Pamela Keagle, Desiree M. Baron, Brendan Kenna, Maarten Kooyman, Shankaracharya, Cheryl Halter, Letizia Straniero, Rosanna Asselta, Salvatore Bonvegna, Alexandra I. Soto‐Beasley, Zbigniew K. Wszołek, Ryan J. Uitti, Ioannis U. Isaias, Gianni Pezzoli, Nicola Ticozzi, Owen A. Ross, Jan H. Veldink, Tatiana Foroud, Kevin Kenna, John E. Landers
出版事項 2024Artigo -
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ALS-associated KIF5A mutations abolish autoinhibition resulting in a toxic gain of function 著者: Baron, Desiree M., Fenton, Adam R., Saez-Atienzar, Sara, Giampetruzzi, Anthony, Sreeram, Aparna, Shankaracharya, Keagle, Pamela J., Doocy, Victoria R., Smith, Nathan J., Danielson, Eric W., Andresano, Megan, McCormack, Mary C., Garcia, Jaqueline, Bercier, Valérie, Van Den Bosch, Ludo, Brent, Jonathan R., Fallini, Claudia, Traynor, Bryan J., Holzbaur, Erika L.F., Landers, John E.
出版事項 2022テキスト -
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Expression of ALS-PFN1 impairs vesicular degradation in iPSC-derived microglia 著者: Salome Funes, Jonathan Jung, Del Hayden Gadd, Michelle Mosqueda, Jianjun Zhong, Shankaracharya, Matthew Unger, Karly M. Stallworth, Debra Cameron, Melissa Rotunno, Pepper Dawes, Megan Fowler, Pamela Keagle, Justin A. McDonough, Sivakumar Boopathy, Miguel Sena‐Esteves, Jeffrey A. Nickerson, Cathleen Lutz, William C. Skarnes, Elaine T. Lim, Dorothy P. Schafer, Francesca Massi, John E. Landers, Daryl A. Bosco
出版事項 2024Artigo -
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A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data 著者: Hu, Hao, Roach, Jared C, Coon, Hilary, Guthery, Stephen L, Voelkerding, Karl V, Margraf, Rebecca L, Durtschi, Jacob D, Tavtigian, Sean V, Shankaracharya, Wu, Wilfred, Scheet, Paul, Wang, Shuoguo, Xing, Jinchuan, Glusman, Gustavo, Hubley, Robert, Li, Hong, Garg, Vidu, Moore, Barry, Hood, Leroy, Galas, David J, Srivastava, Deepak, Reese, Martin G, Jorde, Lynn B, Yandell, Mark, Huff, Chad D
出版事項 2014テキスト -
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A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data 著者: Hao Hu, Jared C. Roach, Hilary Coon, Stephen L. Guthery, Karl V. Voelkerding, Rebecca L. Margraf, Jacob Durtschi, Sean V. Tavtigian, N.A. Shankaracharya, Wilfred Wu, Paul Scheet, Shuoguo Wang, Jinchuan Xing, Gustavo Glusman, Robert Hubley, Hong Li, Vidu Garg, Barry Moore, Leroy Hood, David J. Galas, Deepak Srivastava, Martin G. Reese, Lynn B. Jorde, Mark Yandell, Chad D. Huff
出版事項 2014Artigo -
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Rare Mutations in <i>RINT1</i> Predispose Carriers to Breast and Lynch Syndrome–Spectrum Cancers 著者: Daniel J. Park, Kayoko Tao, Florence Le Calvez‐Kelm, Tú Nguyen‐Dumont, Nivonirina Robinot, Fleur Hammet, Fabrice Odefrey, Helen Tsimiklis, Zhi L. Teo, Louise B. Thingholm, Erin L. Young, Catherine Voegele, Andrew Lonie, Bernard J. Pope, Terrell C. Roane, Russell Bell, Hao Hu, N.A. Shankaracharya, Chad Huff, Jonathan J. Ellis, Jun Li, Igor V. Makunin, Esther M. John, Irene L. Andrulis, Mary Beth Terry, Mary B. Daly, Saundra S. Buys, Carrie Snyder, Henry T. Lynch, Peter Devilee, Graham G. Giles, John L. Hopper, Bing Feng, Fabienne Lesueur, Sean V. Tavtigian, Melissa C. Southey, David E. Goldgar
出版事項 2014Artigo -
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Rare mutations in RINT1 predispose carriers to breast and Lynch Syndrome-spectrum cancers 著者: Park, Daniel J., Tao, Kayoko, Le Calvez-Kelm, Florence, Nguyen-Dumont, Tu, Robinot, Nivonirina, Hammet, Fleur, Odefrey, Fabrice, Tsimiklis, Helen, Teo, Zhi L., Thingholm, Louise B., Young, Erin L., Voegele, Catherine, Lonie, Andrew, Pope, Bernard J., Roane, Terrell C., Bell, Russell, Hu, Hao, Shankaracharya, Huff, Chad D., Ellis, Jonathan, Li, Jun, Makunin, Igor V., John, Esther M., Andrulis, Irene L., Terry, Mary B., Daly, Mary, Buys, Saundra S., Snyder, Carrie, Lynch, Henry T., Devilee, Peter, Giles, Graham G., Hopper, John L., Feng, Bing J., Lesueur, Fabienne, Tavtigian, Sean V., Southey, Melissa C., Goldgar, David E.
出版事項 2014テキスト -
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CYLD is a causative gene for frontotemporal dementia – amyotrophic lateral sclerosis 著者: Carol Dobson‐Stone, Marianne Hallupp, Hamideh Shahheydari, Audrey Ragagnin, Zac Chatterton, Francine Carew‐Jones, Claire E. Shepherd, Holly Stefen, Esmeralda Parić, Thomas Fath, Elizabeth M. Thompson, Peter Blumbergs, Cathy L. Short, Colin D. Field, Peter K. Panegyres, Jane Hecker, Garth A. Nicholson, Alex D. Shaw, Janice M. Fullerton, Agnes A. Luty, Peter R. Schofield, William S. Brooks, Neil Rajan, Mark F. Bennett, Melanie Bahlo, N.A. Shankaracharya, John E. Landers, Olivier Piguet, John R. Hodges, Glenda M. Halliday, Simon Topp, Bradley Smith, Christopher E. Shaw, Emily P. McCann, Jennifer A. Fifita, Kelly L. Williams, Julie D. Atkin, Ian P. Blair, John B. Kwok
出版事項 2020Artigo -
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CYLD is a causative gene for frontotemporal dementia – amyotrophic lateral sclerosis 著者: Dobson-Stone, Carol, Hallupp, Marianne, Shahheydari, Hamideh, Ragagnin, Audrey M G, Chatterton, Zac, Carew-Jones, Francine, Shepherd, Claire E, Stefen, Holly, Paric, Esmeralda, Fath, Thomas, Thompson, Elizabeth M, Blumbergs, Peter, Short, Cathy L, Field, Colin D, Panegyres, Peter K, Hecker, Jane, Nicholson, Garth, Shaw, Alex D, Fullerton, Janice M, Luty, Agnes A, Schofield, Peter R, Brooks, William S, Rajan, Neil, Bennett, Mark F, Bahlo, Melanie, Shankaracharya, Landers, John E, Piguet, Olivier, Hodges, John R, Halliday, Glenda M, Topp, Simon D, Smith, Bradley N, Shaw, Christopher E, McCann, Emily, Fifita, Jennifer A, Williams, Kelly L, Atkin, Julie D, Blair, Ian P, Kwok, John B
出版事項 2020テキスト
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Biology
Gene
Genetics
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Disease
Internal medicine
Amyotrophic lateral sclerosis
Mutation
C9orf72
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Dementia
Frontotemporal dementia
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Single-nucleotide polymorphism
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