תוצאות חיפוש - Shankaracharya,
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<i>ATXN2</i> intermediate expansions in amyotrophic lateral sclerosis מאת Jonathan D. Glass, Ramita Dewan, Jinhui Ding, J. Raphael Gibbs, Clifton L. Dalgard, Pamela Keagle, Shankaracharya, Alberto García‐Redondo, Bryan J. Traynor, Ruth Chia, John E. Landers
יצא לאור 2022Artigo -
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Relationship Estimation from Whole-Genome Sequence Data מאת Li, Hong, Glusman, Gustavo, Hu, Hao, Shankaracharya, Caballero, Juan, Hubley, Robert, Witherspoon, David, Guthery, Stephen L., Mauldin, Denise E., Jorde, Lynn B., Hood, Leroy, Roach, Jared C., Huff, Chad D.
יצא לאור 2014Text -
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Relationship Estimation from Whole-Genome Sequence Data מאת Hong Li, Gustavo Glusman, Hao Hu, N.A. Shankaracharya, Juan Caballero-Pérez, Robert Hubley, David J. Witherspoon, Stephen L. Guthery, Denise E. Mauldin, Lynn B. Jorde, Leroy Hood, Jared C. Roach, Chad Huff
יצא לאור 2014Artigo -
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Role of Lysosomal Gene Variants in Modulating <scp><i>GBA</i></scp>‐Associated Parkinson's Disease Risk מאת 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
יצא לאור 2022Revisão -
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Role of Lysosomal Gene Variants in Modulating GBA ‐Associated Parkinson's Disease Risk מאת 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
יצא לאור 2022Text -
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ALS-associated KIF5A mutations abolish autoinhibition resulting in a toxic gain of function מאת 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
יצא לאור 2022Artigo -
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Systematic rare variant analyses identify RAB32 as a susceptibility gene for familial Parkinson’s disease מאת 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
יצא לאור 2024Artigo -
13
ALS-associated KIF5A mutations abolish autoinhibition resulting in a toxic gain of function מאת 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.
יצא לאור 2022Text -
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Expression of ALS-PFN1 impairs vesicular degradation in iPSC-derived microglia מאת 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
יצא לאור 2024Artigo -
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A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data מאת 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
יצא לאור 2014Text -
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A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data מאת 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
יצא לאור 2014Artigo -
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Rare Mutations in <i>RINT1</i> Predispose Carriers to Breast and Lynch Syndrome–Spectrum Cancers מאת 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
יצא לאור 2014Artigo -
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Rare mutations in RINT1 predispose carriers to breast and Lynch Syndrome-spectrum cancers מאת 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.
יצא לאור 2014Text -
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CYLD is a causative gene for frontotemporal dementia – amyotrophic lateral sclerosis מאת 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
יצא לאור 2020Artigo -
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CYLD is a causative gene for frontotemporal dementia – amyotrophic lateral sclerosis מאת 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
יצא לאור 2020Text
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