Zobrazeno 1 - 10
of 70
pro vyhledávání: '"Norsworthy, Penny"'
Autor:
Jones, Emma, Hummerich, Holger, Viré, Emmanuelle, Uphill, James, Dimitriadis, Athanasios, Speedy, Helen, Campbell, Tracy, Norsworthy, Penny, Quinn, Liam, Whitfield, Jerome, Linehan, Jacqueline, Jaunmuktane, Zane, Brandner, Sebastian, Jat, Parmjit, Nihat, Akin, How Mok, Tze, Ahmed, Parvin, Collins, Steven, Stehmann, Christiane, Sarros, Shannon, Kovacs, Gabor G, Geschwind, Michael D, Golubjatnikov, Aili, Frontzek, Karl, Budka, Herbert, Aguzzi, Adriano, Karamujić-Čomić, Hata, van der Lee, Sven J, Ibrahim-Verbaas, Carla A, van Duijn, Cornelia M, Sikorska, Beata, Golanska, Ewa, Liberski, Pawel P, Calero, Miguel, Calero, Olga, Sanchez-Juan, Pascual, Salas, Antonio, Martinón-Torres, Federico, Bouaziz-Amar, Elodie, Haïk, Stéphane, Laplanche, Jean-Louis, Brandel, Jean-Phillipe, Amouyel, Phillipe, Lambert, Jean-Charles, Parchi, Piero, Bartoletti-Stella, Anna, Capellari, Sabina, Poleggi, Anna, Ladogana, Anna, Pocchiari, Maurizio, Aneli, Serena, Matullo, Giuseppe, Knight, Richard, Zafar, Saima, Zerr, Inga, Booth, Stephanie, Coulthart, Michael B, Jansen, Gerard H, Glisic, Katie, Blevins, Janis, Gambetti, Pierluigi, Safar, Jiri, Appleby, Brian, Collinge, John, Mead, Simon *
Publikováno v:
In The Lancet Neurology October 2020 19(10):840-848
Autor:
Holstege, Henne, Hulsman, Marc, Charbonnier, Camille, Grenier-Boley, Benjamin, Quenez, Olivier, Grozeva, Detelina, van Rooij, Jeroen G. J., Sims, Rebecca, Ahmad, Shahzad, Amin, Najaf, Norsworthy, Penny J., Dols Icardo, Oriol, Hummerich, Holger, Kawalia, Amit, Amouyel, Philippe, Beecham, Gary W., Berr, Claudine, Bis, Joshua C., Boland, Anne, Bossù, Paola, Bouwman, Femke, Bras, Jose, Campion, Dominique, Cochran, J. Nicholas, Daniele, Antonio, Dartigues, Jean-François, Debette, Stéphanie, Deleuze, Jean-François, Denning, Nicola, DeStefano, Anita L., Farrer, Lindsay A., Fernández, Maria Victoria, Fox, Nick C., Galimberti, Daniela, Genin, Emmanuelle, Gille, Johan J. P., Le Guen, Yann, Guerreiro, Rita, Haines, Jonathan L., Holmes, Clive, Ikram, M. Arfan, Ikram, M. Kamran, Jansen, Iris E., Kraaij, Robert, Lathrop, Marc, Lemstra, Afina W., Lleó, Alberto, Luckcuck, Lauren, Mannens, Marcel M. A. M., Marshall, Rachel, Martin, Eden R., Masullo, Carlo, Mayeux, Richard, Mecocci, Patrizia, Meggy, Alun, Mol, Merel O., Morgan, Kevin, Myers, Richard M., Nacmias, Benedetta, Naj, Adam C., Napolioni, Valerio, Pasquier, Florence, Pastor, Pau, Pericak-Vance, Margaret A., Raybould, Rachel, Redon, Richard, Reinders, Marcel J. T., Richard, Anne-Claire, Riedel-Heller, Steffi G., Rivadeneira, Fernando, Rousseau, Stéphane, Ryan, Natalie S., Saad, Salha, Sánchez-Juan, Pascual, Schellenberg, Gerard D., Scheltens, Philip, Schott, Jonathan M., Seripa, Davide, Seshadri, Sudha, Sie, Daoud, Sistermans, Erik A., Sorbi, Sandro, van Spaendonk, Resie, Spalletta, Gianfranco, Tesi, Niccolo, Tijms, Betty, Uitterlinden, André G., van der Lee, Sven J., Visser, Pieter Jelle, Wagner, Michael, Wallon, David, Wang, Li-San, Zarea, Aline, Clarimón, Jordi, van Swieten, John C., Greicius, Michael D., Yokoyama, Jennifer S., Cruchaga, Carlos, Hardy, John, Ramirez, Alfredo, Mead, Simon, van der Flier, Wiesje M., van Duijn, Cornelia M., Williams, Julie, Nicolas, Gaël, Bellenguez, Céline, Lambert, Jean-Charles, Universitat Autònoma de Barcelona
Publikováno v:
Nature genetics 54(12), 1786-1794 (2022). doi:10.1038/s41588-022-01208-7
Holstege, H, Hulsman, M, Charbonnier, C, Grenier-Boley, B, Quenez, O, Grozeva, D, van Rooij, J G J, Sims, R, Ahmad, S, Amin, N, Norsworthy, P J, Dols-Icardo, O, Hummerich, H, Kawalia, A, Amouyel, P, Beecham, G W, Berr, C, Bis, J C, Boland, A, Bossù, P, Bouwman, F, Bras, J, Campion, D, Cochran, J N, Daniele, A, Dartigues, J-F, Debette, S, Deleuze, J-F, Denning, N, DeStefano, A L, Farrer, L A, Fernández, M V, Fox, N C, Galimberti, D, Genin, E, Gille, J J P, le Guen, Y, Guerreiro, R, Haines, J L, Holmes, C, Ikram, M A, Ikram, M K, Jansen, I E, Kraaij, R, Lathrop, M, Lemstra, A W, Lleó, A, Luckcuck, L, Mannens, M M A M, Marshall, R, Martin, E R, Masullo, C, Mayeux, R, Mecocci, P, Meggy, A, Mol, M O, Morgan, K, Myers, R M, Nacmias, B, Naj, A C, Napolioni, V, Pasquier, F, Pastor, P, Pericak-Vance, M A, Raybould, R, Redon, R, Reinders, M J T, Richard, A-C, Riedel-Heller, S G, Rivadeneira, F, Rousseau, S, Ryan, N S, Saad, S, Sanchez-Juan, P, Schellenberg, G D, Scheltens, P, Schott, J M, Seripa, D, Seshadri, S, Sie, D, Sistermans, E A, Sorbi, S, van Spaendonk, R, Spalletta, G, Tesi, N, Tijms, B, Uitterlinden, A G, van der Lee, S J, Visser, P J, Wagner, M, Wallon, D, Wang, L-S, Zarea, A, Clarimon, J, van Swieten, J C, Greicius, M D, Yokoyama, J S, Cruchaga, C, Hardy, J, Ramirez, A, Mead, S, van der Flier, W M, van Duijn, C M, Williams, J, Nicolas, G, Bellenguez, C L & Lambert, J-C 2022, ' Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer’s disease ', Nature Genetics, vol. 54, no. 12, pp. 1786-1794 . https://doi.org/10.1038/s41588-022-01208-7
Nature Genetics, 54(12), 1786-1794. Nature Publishing Group
Holstege, H, Hulsman, M, Charbonnier, C, Grenier-Boley, B, Quenez, O, Grozeva, D, van Rooij, J G J, Sims, R, Ahmad, S, Amin, N, Norsworthy, P J, Dols-Icardo, O, Hummerich, H, Kawalia, A, Amouyel, P, Beecham, G W, Berr, C, Bis, J C, Boland, A, Bossù, P, Bouwman, F, Bras, J, Campion, D, Cochran, J N, Daniele, A, Dartigues, J-F, Debette, S, Deleuze, J-F, Denning, N, DeStefano, A L, Farrer, L A, Fernández, M V, Fox, N C, Galimberti, D, Genin, E, Gille, J J P, Le Guen, Y, Guerreiro, R, Haines, J L, Holmes, C, Ikram, M A, Ikram, M K, Jansen, I E, Kraaij, R, Lathrop, M, Lemstra, A W, Lleó, A, Luckcuck, L, Mannens, M M A M, Marshall, R, Martin, E R, Masullo, C, Mayeux, R, Mecocci, P, Meggy, A, Mol, M O, Morgan, K, Myers, R M, Nacmias, B, Naj, A C, Napolioni, V, Pasquier, F, Pastor, P, Pericak-Vance, M A, Raybould, R, Redon, R, Reinders, M J T, Richard, A-C, Riedel-Heller, S G, Rivadeneira, F, Rousseau, S, Ryan, N S, Saad, S, Sanchez-Juan, P, Schellenberg, G D, Scheltens, P, Schott, J M, Seripa, D, Seshadri, S, Sie, D, Sistermans, E A, Sorbi, S, van Spaendonk, R, Spalletta, G, Tesi, N, Tijms, B, Uitterlinden, A G, van der Lee, S J, Visser, P J, Wagner, M, Wallon, D, Wang, L-S, Zarea, A, Clarimon, J, van Swieten, J C, Greicius, M D, Yokoyama, J S, Cruchaga, C, Hardy, J, Ramirez, A, Mead, S, van der Flier, W M, van Duijn, C M, Williams, J, Nicolas, G, Bellenguez, C & Lambert, J-C 2022, ' Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer’s disease ', Nature genetics, vol. 54, no. 12, pp. 1786-1794 . https://doi.org/10.1038/s41588-022-01208-7
Nature Genetics, 54(12)
Nature genetics, 54(12), 1786-1794. Nature Publishing Group
Nature Genetics
Holstege, H, Hulsman, M, Charbonnier, C, Grenier-Boley, B, Quenez, O, Grozeva, D, van Rooij, J G J, Sims, R, Ahmad, S, Amin, N, Norsworthy, P J, Dols-Icardo, O, Hummerich, H, Kawalia, A, Amouyel, P, Beecham, G W, Berr, C, Bis, J C, Boland, A, Bossù, P, Bouwman, F, Bras, J, Campion, D, Cochran, J N, Daniele, A, Dartigues, J-F, Debette, S, Deleuze, J-F, Denning, N, DeStefano, A L, Farrer, L A, Fernández, M V, Fox, N C, Galimberti, D, Genin, E, Gille, J J P, le Guen, Y, Guerreiro, R, Haines, J L, Holmes, C, Ikram, M A, Ikram, M K, Jansen, I E, Kraaij, R, Lathrop, M, Lemstra, A W, Lleó, A, Luckcuck, L, Mannens, M M A M, Marshall, R, Martin, E R, Masullo, C, Mayeux, R, Mecocci, P, Meggy, A, Mol, M O, Morgan, K, Myers, R M, Nacmias, B, Naj, A C, Napolioni, V, Pasquier, F, Pastor, P, Pericak-Vance, M A, Raybould, R, Redon, R, Reinders, M J T, Richard, A-C, Riedel-Heller, S G, Rivadeneira, F, Rousseau, S, Ryan, N S, Saad, S, Sanchez-Juan, P, Schellenberg, G D, Scheltens, P, Schott, J M, Seripa, D, Seshadri, S, Sie, D, Sistermans, E A, Sorbi, S, van Spaendonk, R, Spalletta, G, Tesi, N, Tijms, B, Uitterlinden, A G, van der Lee, S J, Visser, P J, Wagner, M, Wallon, D, Wang, L-S, Zarea, A, Clarimon, J, van Swieten, J C, Greicius, M D, Yokoyama, J S, Cruchaga, C, Hardy, J, Ramirez, A, Mead, S, van der Flier, W M, van Duijn, C M, Williams, J, Nicolas, G, Bellenguez, C L & Lambert, J-C 2022, ' Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer’s disease ', Nature Genetics, vol. 54, no. 12, pp. 1786-1794 . https://doi.org/10.1038/s41588-022-01208-7
Nature Genetics, 54(12), 1786-1794. Nature Publishing Group
Holstege, H, Hulsman, M, Charbonnier, C, Grenier-Boley, B, Quenez, O, Grozeva, D, van Rooij, J G J, Sims, R, Ahmad, S, Amin, N, Norsworthy, P J, Dols-Icardo, O, Hummerich, H, Kawalia, A, Amouyel, P, Beecham, G W, Berr, C, Bis, J C, Boland, A, Bossù, P, Bouwman, F, Bras, J, Campion, D, Cochran, J N, Daniele, A, Dartigues, J-F, Debette, S, Deleuze, J-F, Denning, N, DeStefano, A L, Farrer, L A, Fernández, M V, Fox, N C, Galimberti, D, Genin, E, Gille, J J P, Le Guen, Y, Guerreiro, R, Haines, J L, Holmes, C, Ikram, M A, Ikram, M K, Jansen, I E, Kraaij, R, Lathrop, M, Lemstra, A W, Lleó, A, Luckcuck, L, Mannens, M M A M, Marshall, R, Martin, E R, Masullo, C, Mayeux, R, Mecocci, P, Meggy, A, Mol, M O, Morgan, K, Myers, R M, Nacmias, B, Naj, A C, Napolioni, V, Pasquier, F, Pastor, P, Pericak-Vance, M A, Raybould, R, Redon, R, Reinders, M J T, Richard, A-C, Riedel-Heller, S G, Rivadeneira, F, Rousseau, S, Ryan, N S, Saad, S, Sanchez-Juan, P, Schellenberg, G D, Scheltens, P, Schott, J M, Seripa, D, Seshadri, S, Sie, D, Sistermans, E A, Sorbi, S, van Spaendonk, R, Spalletta, G, Tesi, N, Tijms, B, Uitterlinden, A G, van der Lee, S J, Visser, P J, Wagner, M, Wallon, D, Wang, L-S, Zarea, A, Clarimon, J, van Swieten, J C, Greicius, M D, Yokoyama, J S, Cruchaga, C, Hardy, J, Ramirez, A, Mead, S, van der Flier, W M, van Duijn, C M, Williams, J, Nicolas, G, Bellenguez, C & Lambert, J-C 2022, ' Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer’s disease ', Nature genetics, vol. 54, no. 12, pp. 1786-1794 . https://doi.org/10.1038/s41588-022-01208-7
Nature Genetics, 54(12)
Nature genetics, 54(12), 1786-1794. Nature Publishing Group
Nature Genetics
Alzheimer’s disease (AD), the leading cause of dementia, has an estimated heritability of approximately 70%1. The genetic component of AD has been mainly assessed using genome-wide association studies, which do not capture the risk contributed by r
Autor:
Holstege, Henne, Hulsman, Marc, Charbonnier, Camille, Grenier-Boley, Benjamin, Quenez, Olivier, Grozeva, Detelina, van Rooij, Jeroen G.J., Sims, Rebecca, Ahmad, Shahzad, Amin, Najaf, Norsworthy, Penny J., Dols-Icardo, Oriol, Hummerich, Holger, Kawalia, Amit, Amouyel, Philippe, Beecham, Gary W., Berr, Claudine, Bis, Joshua C., Boland, Anne, Bossù, Paola, Bouwman, Femke, Bras, Jose, Campion, Dominique, Cochran, J. Nicholas, Daniele, Antonio, Dartigues, Jean-François, Debette, Stéphanie, Deleuze, Jean-François, Denning, Nicola, DeStefano, Anita L, Farrer, Lindsay A., Fernandez, Maria Victoria, Fox, Nick C., Galimberti, Daniela, Genin, Emmanuelle, Gille, Hans, Guen, Yann Le, Guerreiro, Rita, Haines, Jonathan L., Holmes, Clive, Ikram, M. Arfan, Ikram, M. Kamran, Jansen, Iris E., Kraaij, Robert, Lathrop, Marc, Lemstra, Afina W., Lleó, Alberto, Luckcuck, Lauren, Mannens, Marcel M. A. M., Marshall, Rachel, Martin, Eden R, Masullo, Carlo, Mayeux, Richard, Mecocci, Patrizia, Meggy, Alun, Mol, Merel O., Morgan, Kevin, Myers, Richard M., Nacmias, Benedetta, Naj, Adam C, Napolioni, Valerio, Pasquier, Florence, Pastor, Pau, Pericak-Vance, Margaret A., Raybould, Rachel, Redon, Richard, Reinders, Marcel J.T., Richard, Anne-Claire, Riedel-Heller, Steffi G, Rivadeneira, Fernando, Rousseau, Stéphane, Ryan, Natalie S., Saad, Salha, Sanchez-Juan, Pascual, Schellenberg, Gerard D., Scheltens, Philip, Schott, Jonathan M., Seripa, Davide, Seshadri, Sudha, Sie, Daoud, Sistermans, Erik, Sorbi, Sandro, van Spaendonk, Resie, Spalletta, Gianfranco, Tesi, Niccólo, Tijms, Betty, Uitterlinden, André G, van der Lee, Sven J., de Visser, Pieter Jelle, Wagner, Michael, Wallon, David, Wang, Li-San, Zarea, Aline, Clarimon, Jordi, van Swieten, John C., Greicius, Michael D., Yokoyama, Jennifer S., Cruchaga, Carlos, Hardy, John, Ramirez, Alfredo, Mead, Simon, van der Flier, Wiesje M., van Duijn, Cornelia M, Williams, Julie, Nicolas, Gaël, Bellenguez, Céline, Lambert, Jean-Charles
Background With the development of next-generation sequencing technologies, it is possible to identify rare genetic variants that influence the risk of complex disorders. To date, whole exome sequencing (WES) strategies have shown that specific clust
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e0edb87bfc0af5b068eef10c8654db78
https://doi.org/10.1101/2020.07.22.20159251
https://doi.org/10.1101/2020.07.22.20159251
Autor:
Norsworthy, Penny J, Thompson, Andrew G. B., Mok, Tze H, Paterson, Ross W, Schott, Jonathan M, Collinge, John, Mead, Simon, Viré, Emmanuelle A
Sporadic Creutzfeldt-Jakob disease (sCJD) presents as a rapidly progressive dementia which is usually fatal within six months. No blood tests are currently available for diagnosis or disease monitoring. Here, we profile blood microRNA (miRNA) express
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______9409::793a4b4c2bf0303472c0ca73513de9fc
Akademický článek
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Autor:
Holstege, Henne, Hulsman, Marc, Charbonnier, Camille, Grenier‐Boley, Benjamin, Quenez, Olivier, Grozeva, Detelina, van Rooij, Jeroen G.J., Sims, Rebecca, Ahmad, Shahzad, Amin, Najaf, Norsworthy, Penny, Dols‐Icardo, Oriol, Hummerich, Holger, Kawalia, Amit, Amouyel, Philippe, Beecham, Gary W., Berr, Claudine, Bis, Josh C, Boland, Anne, Bossù, Paola
Publikováno v:
Alzheimer's & Dementia: The Journal of the Alzheimer's Association; Dec2021 Supplement S3, Vol. 17 Issue 3, p1-4, 4p
Autor:
Holstege, Henne, Hulsman, Marc, Charbonnier, Camille, Grenier-Boley, Benjamin, Quenez, Olivier, Grozeva, Detelina, van Rooij, Jeroen G. J., Sims, Rebecca, Ahmad, Shahzad, Amin, Najaf, Norsworthy, Penny J., Dols-Icardo, Oriol, Hummerich, Holger, Kawalia, Amit, Amouyel, Philippe, Beecham, Gary W., Berr, Claudine, Bis, Joshua C., Boland, Anne, Bossù, Paola, Bouwman, Femke, Bras, Jose, Campion, Dominique, Cochran, J. Nicholas, Daniele, Antonio, Dartigues, Jean-François, Debette, Stéphanie, Deleuze, Jean-François, Denning, Nicola, DeStefano, Anita L., Farrer, Lindsay A., Fernández, Maria Victoria, Fox, Nick C., Galimberti, Daniela, Genin, Emmanuelle, Gille, Johan J. P., Le Guen, Yann, Guerreiro, Rita, Haines, Jonathan L., Holmes, Clive, Ikram, M. Arfan, Ikram, M. Kamran, Jansen, Iris E., Kraaij, Robert, Lathrop, Marc, Lemstra, Afina W., Lleó, Alberto, Luckcuck, Lauren, Mannens, Marcel M. A. M., Marshall, Rachel, Martin, Eden R., Masullo, Carlo, Mayeux, Richard, Mecocci, Patrizia, Meggy, Alun, Mol, Merel O., Morgan, Kevin, Myers, Richard M., Nacmias, Benedetta, Naj, Adam C., Napolioni, Valerio, Pasquier, Florence, Pastor, Pau, Pericak-Vance, Margaret A., Raybould, Rachel, Redon, Richard, Reinders, Marcel J. T., Richard, Anne-Claire, Riedel-Heller, Steffi G., Rivadeneira, Fernando, Rousseau, Stéphane, Ryan, Natalie S., Saad, Salha, Sanchez-Juan, Pascual, Schellenberg, Gerard D., Scheltens, Philip, Schott, Jonathan M., Seripa, Davide, Seshadri, Sudha, Sie, Daoud, Sistermans, Erik A., Sorbi, Sandro, van Spaendonk, Resie, Spalletta, Gianfranco, Tesi, Niccolo’, Tijms, Betty, Uitterlinden, André G., van der Lee, Sven J., Visser, Pieter Jelle, Wagner, Michael, Wallon, David, Wang, Li-San, Zarea, Aline, Clarimon, Jordi, van Swieten, John C., Greicius, Michael D., Yokoyama, Jennifer S., Cruchaga, Carlos, Hardy, John, Ramirez, Alfredo, Mead, Simon, van der Flier, Wiesje M., van Duijn, Cornelia M., Williams, Julie, Nicolas, Gaël, Bellenguez, Céline, Lambert, Jean-Charles
Publikováno v:
Nature Genetics; 20220101, Issue: Preprints p1-9, 9p
Autor:
Koriath, Carolin A.M., Bocchetta, Martina, Brotherhood, Emilie, Woollacott, Ione O.C., Norsworthy, Penny, Simón-Sánchez, Javier, Blauwendraat, Cornelis, Dick, Katrina M., Gordon, Elizabeth, Harding, Sophie R., Fox, Nick C., Crutch, Sebastian, Warren, Jason D., Revesz, Tamas, Lashley, Tammaryn, Mead, Simon, Rohrer, Jonathan D.
Publikováno v:
In Alzheimer's & Dementia: Diagnosis, Assessment & Disease Monitoring 2017 6:75-81
Autor:
Norsworthy, Penny J.1 penny.norsworthy@csc.mrc.ac.uk, Vandrovcova, Jana1 jana.vandrovcova@imperial.ac.uk, Thomas, Ellen R. A.1 Ellen.Thomas@gstt.nhs.uk, Campbell, Archie2 archie.campbell@igmm.ed.ac.uk, Kerr, Shona M.2 shona.kerr@igmm.ed.ac.uk, Biggs, Jennifer1 j.biggs@imperial.ac.uk, Game, Laurence1 laurence.game@imperial.ac.uk, Soutar, Anne K.1 anne.soutar@imperial.ac.uk, Smith, Blair H.3 b.h.smith@dundee.ac.uk, Dominiczak, Anna F.4 Anna.Dominiczak@glasgow.ac.uk, Porteous, David J.2 David.Porteous@igmm.ed.ac.uk, Morris, Andrew D.3 a.d.morris@dundee.ac.uk, Scotland, Generation5, Aitman, Timothy J.1,2 tim.aitman@ed.ac.uk
Publikováno v:
BMC Medical Genetics. 2014, Vol. 15 Issue 1, p1-13. 13p.
Akademický článek
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