Výsledky vyhledávání - Shankaracharya,
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<i>ATXN2</i> intermediate expansions in amyotrophic lateral sclerosis Autor 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
Vydáno 2022Artigo -
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Relationship Estimation from Whole-Genome Sequence Data Autor 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.
Vydáno 2014Text -
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Relationship Estimation from Whole-Genome Sequence Data Autor 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
Vydáno 2014Artigo -
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Role of Lysosomal Gene Variants in Modulating <scp><i>GBA</i></scp>‐Associated Parkinson's Disease Risk Autor 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
Vydáno 2022Revisão -
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Role of Lysosomal Gene Variants in Modulating GBA ‐Associated Parkinson's Disease Risk Autor 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
Vydáno 2022Text -
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ALS-associated KIF5A mutations abolish autoinhibition resulting in a toxic gain of function Autor 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
Vydáno 2022Artigo -
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Systematic rare variant analyses identify RAB32 as a susceptibility gene for familial Parkinson’s disease Autor 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
Vydáno 2024Artigo -
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ALS-associated KIF5A mutations abolish autoinhibition resulting in a toxic gain of function Autor 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.
Vydáno 2022Text -
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Expression of ALS-PFN1 impairs vesicular degradation in iPSC-derived microglia Autor 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
Vydáno 2024Artigo -
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A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data Autor 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
Vydáno 2014Text -
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A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data Autor 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
Vydáno 2014Artigo -
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Rare Mutations in <i>RINT1</i> Predispose Carriers to Breast and Lynch Syndrome–Spectrum Cancers Autor 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
Vydáno 2014Artigo -
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Rare mutations in RINT1 predispose carriers to breast and Lynch Syndrome-spectrum cancers Autor 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.
Vydáno 2014Text -
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CYLD is a causative gene for frontotemporal dementia – amyotrophic lateral sclerosis Autor 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
Vydáno 2020Artigo -
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CYLD is a causative gene for frontotemporal dementia – amyotrophic lateral sclerosis Autor 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
Vydáno 2020Text
Vyhledávací nástroje:
Související témata
Biology
Gene
Genetics
Medicine
Disease
Internal medicine
Amyotrophic lateral sclerosis
Mutation
C9orf72
Computational biology
Dementia
Frontotemporal dementia
Pathology
Phenotype
Artificial intelligence
Bioinformatics
Cancer research
Cell biology
Computer science
Genome
Genotype
Machine learning
Missense mutation
Neuroscience
Odds ratio
Oncology
Penetrance
Single-nucleotide polymorphism
Apoptosis
Autophagy