Analysis of non-human primate models for evaluating prion disease therapeutic efficacy

por Mortberg, Meredith A., Minikel, Eric Vallabh, Vallabh, Sonia M.
Publicado 2022

Disease stages and therapeutic hypotheses in two decades of neurodegenerative disease clinical trials

por Mortberg, Meredith A., Vallabh, Sonia M., Minikel, Eric Vallabh
Publicado 2022

Characterization of the Prion Protein Binding Properties of Antisense Oligonucleotides

por Reidenbach, Andrew G., Minikel, Eric Vallabh, Zhao, Hien T., Guzman, Stacy G., Leed, Alison J., Mesleh, Michael F., Kordasiewicz, Holly B., Schreiber, Stuart L., Vallabh, Sonia M.
Publicado 2019

Therapeutic Trial of anle138b in Mouse Models of Genetic Prion Disease

por Vallabh, Sonia M., Zou, Dan, Pitstick, Rose, O’Moore, Jill, Peters, Janet, Silvius, Derek, Kriz, Jasna, Jackson, Walker S., Carlson, George A., Minikel, Eric Vallabh, Cabin, Deborah E.
Publicado 2023

A single-cell map of antisense oligonucleotide activity in the brain

por Mortberg, Meredith A, Gentile, Juliana E, Nadaf, Naeem, Vanderburg, Charles, Simmons, Sean, Dubinsky, Dan, Slamin, Adam, Maldonado, Salome, Petersen, Caroline L, Jones, Nichole, Kordasiewicz, Holly B, Zhao, Hien T, Vallabh, Sonia M, Minikel, Eric Vallabh
Publicado 2023

A single-cell map of antisense oligonucleotide activity in the brain

por Mortberg, Meredith A, Gentile, Juliana E, Nadaf, Naeem M, Vanderburg, Charles, Simmons, Sean, Dubinsky, Dan, Slamin, Adam, Maldonado, Salome, Petersen, Caroline L, Jones, Nichole, Kordasiewicz, Holly B, Zhao, Hien T, Vallabh, Sonia M, Minikel, Eric Vallabh
Publicado 2023

Evaluating drug targets through human loss-of-function genetic variation

por Minikel, Eric Vallabh, Karczewski, Konrad J., Martin, Hilary C., Cummings, Beryl B., Whiffin, Nicola, Rhodes, Daniel, Alföldi, Jessica, Trembath, Richard C., van Heel, David A., Daly, Mark J., Schreiber, Stuart L., MacArthur, Daniel G.
Publicado 2020

Author Correction: Evaluating drug targets through human loss-of-function genetic variation

por Minikel, Eric Vallabh, Karczewski, Konrad J., Martin, Hilary C., Cummings, Beryl B., Whiffin, Nicola, Rhodes, Daniel, Alföldi, Jessica, Trembath, Richard C., van Heel, David A., Daly, Mark J., Schreiber, Stuart L., MacArthur, Daniel G.
Publicado 2021

Cerebrospinal fluid and plasma biomarkers in individuals at risk for genetic prion disease

por Vallabh, Sonia M., Minikel, Eric Vallabh, Williams, Victoria J., Carlyle, Becky C., McManus, Alison J., Wennick, Chase D., Bolling, Anna, Trombetta, Bianca A., Urick, David, Nobuhara, Chloe K., Gerber, Jessica, Duddy, Holly, Lachmann, Ingolf, Stehmann, Christiane, Collins, Steven J., Blennow, Kaj, Zetterberg, Henrik, Arnold, Steven E.
Publicado 2020

Regional variability and genotypic and pharmacodynamic effects on PrP concentration in the CNS

por Mortberg, Meredith A., Zhao, Hien T., Reidenbach, Andrew G., Gentile, Juliana E., Kuhn, Eric, O’Moore, Jill, Dooley, Patrick M., Connors, Theresa R., Mazur, Curt, Allen, Shona W., Trombetta, Bianca A., McManus, Alison, Moore, Matthew R., Liu, Jiewu, Cabin, Deborah E., Kordasiewicz, Holly B., Mathews, Joel, Arnold, Steven E., Vallabh, Sonia M., Minikel, Eric Vallabh
Publicado 2022

Antisense oligonucleotides extend survival of prion-infected mice

por Raymond, Gregory J., Zhao, Hien Tran, Race, Brent, Raymond, Lynne D., Williams, Katie, Swayze, Eric E., Graffam, Samantha, Le, Jason, Caron, Tyler, Stathopoulos, Jacquelyn, O’Keefe, Rhonda, Lubke, Lori L., Reidenbach, Andrew G., Kraus, Allison, Schreiber, Stuart L., Mazur, Curt, Cabin, Deborah E., Carroll, Jeffrey B., Minikel, Eric Vallabh, Kordasiewicz, Holly, Caughey, Byron, Vallabh, Sonia M.
Publicado 2019

Prion protein lowering is a disease-modifying therapy across prion disease stages, strains and endpoints

por Minikel, Eric Vallabh, Zhao, Hien T, Le, Jason, O’Moore, Jill, Pitstick, Rose, Graffam, Samantha, Carlson, George A, Kavanaugh, Michael P, Kriz, Jasna, Kim, Jae Beom, Ma, Jiyan, Wille, Holger, Aiken, Judd, McKenzie, Deborah, Doh-ura, Katsumi, Beck, Matthew, O’Keefe, Rhonda, Stathopoulos, Jacquelyn, Caron, Tyler, Schreiber, Stuart L, Carroll, Jeffrey B, Kordasiewicz, Holly B, Cabin, Deborah E, Vallabh, Sonia M
Publicado 2020

The mutational constraint spectrum quantified from variation in 141,456 humans

por Karczewski, Konrad J., Francioli, Laurent C., Tiao, Grace, Cummings, Beryl B., Alföldi, Jessica, Wang, Qingbo, Collins, Ryan L., Laricchia, Kristen M., Ganna, Andrea, Birnbaum, Daniel P., Gauthier, Laura D., Brand, Harrison, Solomonson, Matthew, Watts, Nicholas A., Rhodes, Daniel, Singer-Berk, Moriel, England, Eleina M., Seaby, Eleanor G., Kosmicki, Jack A., Walters, Raymond K., Tashman, Katherine, Farjoun, Yossi, Banks, Eric, Poterba, Timothy, Wang, Arcturus, Seed, Cotton, Whiffin, Nicola, Chong, Jessica X., Samocha, Kaitlin E., Pierce-Hoffman, Emma, Zappala, Zachary, O’Donnell-Luria, Anne H., Minikel, Eric Vallabh, Weisburd, Ben, Lek, Monkol, Ware, James S., Vittal, Christopher, Armean, Irina M., Bergelson, Louis, Cibulskis, Kristian, Connolly, Kristen M., Covarrubias, Miguel, Donnelly, Stacey, Ferriera, Steven, Gabriel, Stacey, Gentry, Jeff, Gupta, Namrata, Jeandet, Thibault, Kaplan, Diane, Llanwarne, Christopher, Munshi, Ruchi, Novod, Sam, Petrillo, Nikelle, Roazen, David, Ruano-Rubio, Valentin, Saltzman, Andrea, Schleicher, Molly, Soto, Jose, Tibbetts, Kathleen, Tolonen, Charlotte, Wade, Gordon, Talkowski, Michael E., Neale, Benjamin M., Daly, Mark J., MacArthur, Daniel G.
Publicado 2020

Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans

por Karczewski, Konrad J., Francioli, Laurent C., Tiao, Grace, Cummings, Beryl B., Alföldi, Jessica, Wang, Qingbo, Collins, Ryan L., Laricchia, Kristen M., Ganna, Andrea, Birnbaum, Daniel P., Gauthier, Laura D., Brand, Harrison, Solomonson, Matthew, Watts, Nicholas A., Rhodes, Daniel, Singer-Berk, Moriel, England, Eleina M., Seaby, Eleanor G., Kosmicki, Jack A., Walters, Raymond K., Tashman, Katherine, Farjoun, Yossi, Banks, Eric, Poterba, Timothy, Wang, Arcturus, Seed, Cotton, Whiffin, Nicola, Chong, Jessica X., Samocha, Kaitlin E., Pierce-Hoffman, Emma, Zappala, Zachary, O’Donnell-Luria, Anne H., Minikel, Eric Vallabh, Weisburd, Ben, Lek, Monkol, Ware, James S., Vittal, Christopher, Armean, Irina M., Bergelson, Louis, Cibulskis, Kristian, Connolly, Kristen M., Covarrubias, Miguel, Donnelly, Stacey, Ferriera, Steven, Gabriel, Stacey, Gentry, Jeff, Gupta, Namrata, Jeandet, Thibault, Kaplan, Diane, Llanwarne, Christopher, Munshi, Ruchi, Novod, Sam, Petrillo, Nikelle, Roazen, David, Ruano-Rubio, Valentin, Saltzman, Andrea, Schleicher, Molly, Soto, Jose, Tibbetts, Kathleen, Tolonen, Charlotte, Wade, Gordon, Talkowski, Michael E., Neale, Benjamin M., Daly, Mark J., MacArthur, Daniel G.
Publicado 2021

Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans

por Gudmundsson, Sanna, Karczewski, Konrad J., Francioli, Laurent C., Tiao, Grace, Cummings, Beryl B., Alföldi, Jessica, Wang, Qingbo, Collins, Ryan L., Laricchia, Kristen M., Ganna, Andrea, Birnbaum, Daniel P., Gauthier, Laura D., Brand, Harrison, Solomonson, Matthew, Watts, Nicholas A., Rhodes, Daniel, Singer-Berk, Moriel, England, Eleina M., Seaby, Eleanor G., Kosmicki, Jack A., Walters, Raymond K., Tashman, Katherine, Farjoun, Yossi, Banks, Eric, Poterba, Timothy, Wang, Arcturus, Seed, Cotton, Whiffin, Nicola, Chong, Jessica X., Samocha, Kaitlin E., Pierce-Hoffman, Emma, Zappala, Zachary, O’Donnell-Luria, Anne H., Minikel, Eric Vallabh, Weisburd, Ben, Lek, Monkol, Ware, James S., Vittal, Christopher, Armean, Irina M., Bergelson, Louis, Cibulskis, Kristian, Connolly, Kristen M., Covarrubias, Miguel, Donnelly, Stacey, Ferriera, Steven, Gabriel, Stacey, Gentry, Jeff, Gupta, Namrata, Jeandet, Thibault, Kaplan, Diane, Llanwarne, Christopher, Munshi, Ruchi, Novod, Sam, Petrillo, Nikelle, Roazen, David, Ruano-Rubio, Valentin, Saltzman, Andrea, Schleicher, Molly, Soto, Jose, Tibbetts, Kathleen, Tolonen, Charlotte, Wade, Gordon, Talkowski, Michael E., Neale, Benjamin M., Daly, Mark J., MacArthur, Daniel G.
Publicado 2021