Výsledky vyhledávání - "Penny J Norsworthy"

Akademický článek

A blood miRNA signature associates with sporadic Creutzfeldt-Jakob disease diagnosis

Autor: Penny J. Norsworthy, Andrew G. B. Thompson, Tze H. Mok, Fernando Guntoro, Luke C. Dabin, Akin Nihat, Ross W. Paterson, Jonathan M. Schott, John Collinge, Simon Mead, Emmanuelle A. Viré

Publikováno v: Nature Communications, Vol 11, Iss 1, Pp 1-11 (2020)

Sporadic Creutzfeldt-Jakob disease (sCJD) is a rapidly progressive dementia. No clinical blood tests are available for diagnosis. The authors identified three miRNAs in whole-blood that are downregulated in sCJD patients, and discriminate sCJD from A

Externí odkaz: https://doaj.org/article/40732fec2f7f485e8b575e230a89cba5

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Penetrance estimation of Alzheimer disease in SORL1 loss-of-function variant carriers using a family-based strategy and stratification by APOE genotypes

Autor: Schramm, Catherine, Charbonnier, Camille, Zaréa, Aline, Lacour, Morgane, Wallon, David, Boland, Anne, Deleuze, Jean-François, Olaso, Robert, Alarcon, Flora, Campion, Dominique, Nuel, Grégory, Nicolas, Gaël, Collaborators Daniela Andriuta, Pierre, Anthony, Sophie, Auriacombe, Anna-Chloé, Balageas, Guillaume, Ballan, Mélanie, Barbay, Emilie, Beaufils, Yannick, Béjot, Serge, Belliard, Marie, Benaiteau, Karim, Bennys, Frédéric, Blanc, Stéphanie, Bombois, Claire Boutoleau Bretonnière, Pierre, Branger, Jasmine, Carlier, Leslie, Cartz-Piver, Pascaline, Cassagnaud, Giovanni, Castelnovo, Christine, Champion, Annabelle, Chaussenot, Mathieu, Ceccaldi, Valérie, Chauviré, Yaohua, Chen, Julien, Cogez, Emmanuel, Cognat, Fabienne, Contegal-Callier, Lea, Corneille, Philippe, Couratier, Hélène, Courtemanche, Benjamin, Cretin, Charlotte, Crinquette, Bernard, Croisille, Benjamin, Dauriat, Sophie, Dautricourt, Vincent de la Sayette, Astrid De Liège, Marie De Verdal, Didier, Deffond, Benoit, Delpont, Florence, Demurger, Vincent, Deramecourt, Céline, Derollez, Mira, Didic, Giulia, Diemert, Elsa, Dionet, Philippe, Diraison, Aude, Doan, Martine Doco Fenzy, Boris, Dufournet, Julien, Dumurgier, Hélène, Durand, Anas, Dutray, Frédérique, Etcharry-Bouyx, Maté, Formaglio, Audrey, Gabelle, Anne, Gainche-Salmon, Jean-Claude, Getenet, Emmanuelle, Ginglinger, Olivier, Godefroy, Mathilde, Graber, Chloé, Gregoire, Stephan, Grimaldi, Julien, Gueniat, Claude, Gueriot, Sophie, Haffen, Lorraine, Hamelin, Didier, Hannequin, Cezara, Hanta, Clémence, Hardy, Geoffroy, Hautecloque, Camille, Heitz, Claire, Hourregue, Thérèse, Jonveaux, Snejana, Jurici, Catia, Khoumri, Lejla, Koric, Pierre, Krolak-Salmon, Pierre, Labauge, Morgane, Lacour, Julien, Lagarde, Hélène-Marie, Lanoiselée, Brice, Laurens, Isabelle Le Ber, Gwenaël Le Guyader, Amélie, Leblanc, Thibaud, Lebouvier, Anas, Lippi, Marie-Anne, Mackowiak, Eloi, Magnin, Cecilia, Marelli, Olivier, Martinaud, Aurélien, Maureille, Emilie, Milongo-Rigal, Sophie, Mohr, Hélène, Mollion, Olivier, Moreaud, Alexandre, Morin, Gaël, Nicolas, Julia, Nivelle, Camille, Noiray, Elisabeth, Ollagnon-Roman, Claire, Paquet, Jérémie, Pariente, Florence, Pasquier, Alexandre, Perron, Nathalie, Philippi, Virginie, Pichon, Vincent, Planche, Céline, Poirsier, Marie, Rafiq, Pauline, Rod-Olivieri, Adeline, Rollin-Sillaire, Carole, Roué-Jagot, Dario, Saracino, Marie, Sarazin, Mathilde, Sauvée, François, Sellal, Lila Sirven Villaros, Christel, Thauvin, Camille, Tisserand, Christophe, Tomasino, Cédric, Turpinat, Laurène Van Damme, Olivier, Vercruysse, Alice, Voilly, Nathalie, Wagemann, David, Wallon, Aline, Zarea, Shahzad, Ahmad, Philippe, Amouyel, Claudine, Berr, Anne, Boland, Paola, Bossu, Femke, Bouwman, Jose, Bras, Dominique, Campion, Camille, Charbonnier, Jordi, Clarimon, Antonio, Daniele, Jean-François, Dartigues, Stéphanie, Debette, Jean-François, Deleuze, Nicola, Denning, Oriol, Dols-Icardo, Nick, C Fox, Daniela, Galimberti, Emmanuelle, Génin, Hans, Gille, Benjamin, Grenier-Boley, Detelina, Grozeva, Rita, Guerreiro, John, J Hardy, Clive, Holmes, Henne, Holstege, Marc, Hulsman, Holger, Hummerich, M Arfan Ikram, M Kamran Ikram, Iris, Jansen, Amit, Kawalia, Robert, Kraaij, Jean-Charles, Lambert, Marc, Lathrop, Afina, W Lemstra, Alberto, Lleo, Lauren, Luckcuck, Marcel M A, M Mannens, Rachel, Marshall, Carlo, Masullo, Simon, Mead, Mecocci, Patrizia, Alun, Meggy, Merel, O Mol, Kevin, Morgan, Benedetta, Nacmias, Penny, J Norsworthy, Pau, Pastor, Olivier, Quenez, Alfredo, Ramirez, Rachel, Raybould, Richard, Redon, Marcel J, T Reinders, Anne-Claire, Richard, Steffi, G Riedel-Heller, Fernando, Rivadeneira, Stéphane, Rousseau, Natalie, S Ryan, Salha, Saad, Pascual, Sanchez-Juan, Philip, Scheltens, Jonathan, M Schott, Davide, Seripa, Daoud, Sie, Rebecca, Sims, Erik, Sistermans, Sandro, Sorbi, Resie van Spaendonk, Gianfranco, Spalleta, Nicćolo, Tesi, Betty, Tijms, André, G Uitterlinden, Wiesje, M van der Flier, Sven, J van der Lee, Cornelia, M van Duijn, Jeroen G, J van Rooij, John, C van Swieten, Pieter, J de Visser, Michael, Wagner, Julie, Williams

Publikováno v: Genome Medicine. 14

Background Alzheimer disease (AD) is a common complex disorder with a high genetic component. Loss-of-function (LoF) SORL1 variants are one of the strongest AD genetic risk factors. Estimating their age-related penetrance is essential before putative

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66cb56bad83f0110ef6fe33f625e5af5
https://doi.org/10.1186/s13073-022-01070-6

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A blood miRNA signature associates with sporadic Creutzfeldt-Jakob disease diagnosis

Autor: Fernando Guntoro, Ross W. Paterson, Penny J. Norsworthy, Tze H. Mok, Jonathan M. Schott, Akin Nihat, John Collinge, Luke C. Dabin, Emmanuelle Viré, Andrew G.B. Thompson, Simon Mead

Publikováno v: Nature Communications, Vol 11, Iss 1, Pp 1-11 (2020)
Nature Communications

Sporadic Creutzfeldt-Jakob disease (sCJD) presents as a rapidly progressive dementia which is usually fatal within six months. No clinical blood tests are available for diagnosis or disease monitoring. Here, we profile blood microRNA (miRNA) expressi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::793a4b4c2bf0303472c0ca73513de9fc
https://doaj.org/article/40732fec2f7f485e8b575e230a89cba5

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Exome sequencing identifies novel AD-associated genes

Autor: Henne Holstege, Marc Hulsman, Camille Charbonnier, Benjamin Grenier-Boley, Olivier Quenez, Detelina Grozeva, Jeroen G.J. van Rooij, Rebecca Sims, Shahzad Ahmad, Najaf Amin, Penny J. Norsworthy, Oriol Dols-Icardo, Holger Hummerich, Amit Kawalia, Philippe Amouyel, Gary W. Beecham, Claudine Berr, Joshua C. Bis, Anne Boland, Paola Bossù, Femke Bouwman, Dominique Campion, Antonio Daniele, Jean-Franço

Publikováno v: Alzheimer’s and Dementia

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=r3c4b2081b22::39d4423f695b7b3762d7ef929ce76105

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Targeted next-generation sequencing makes new molecular diagnoses and expands genotype–phenotype relationship in Ehlers–Danlos syndrome

Autor: Piyush Gampawar, Penny J. Norsworthy, Rodney Grahame, Christina Kanonidou, Ruwan A. Weerakkody, Michael Mueller, Holly A. Black, Hanadi Kazkaz, Neeti Ghali, Jana Vandrovcova, Timothy J. Aitman, F. Michael Pope, David Ross, Yousef Ibrahim, Anthony Vandersteen, Jennifer Biggs, Nicholas J.W. Cheshire, David J. P. Ferguson, Abdulshakur Abdullah

Publikováno v: Weerakkody, R, Vandrovcova, J, Kanonidou, C, Mueller, M, Gampawar, P, Ibrahim, Y, Norsworthy, P J, Biggs, J, Abdullah, A, Ross, D, Black, H, Ferguson, D J P, Cheshire, N, Kazkaz, H, Grahame, R, Ghali, N, Vandersteen, A, Pope, F M & Aitman, T J 2016, ' Targeted next generation sequencing makes new molecular diagnoses and expands genotype-phenotype relationship in Ehlers-Danlos syndrome ', Genetics in Medicine . https://doi.org/10.1038/gim.2016.14

Ehlers–Danlos syndrome (EDS) comprises a group of overlapping hereditary disorders of connective tissue with significant morbidity and mortality, including major vascular complications. We sought to identify the diagnostic utility of a next-generat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e574ffa1091a6879dbb334132daf79d
https://doi.org/10.1038/gim.2016.14

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Genetic, physiological and comparative genomic studies of hypertension and insulin resistance in the spontaneously hypertensive rat

Autor: Penny J. Norsworthy, Marjorie Barrier, Enrico Petretto, Ana Garcia Diaz, Michal Pravenec, Timothy J. Aitman, Neza Alfazema, P. M. Coan, Norbert Huebner, Oliver Hummel

Publikováno v: Disease Models & Mechanisms
Coan, P M, Hummel, O, Diaz, A I G, Barrier, M, Alfazema, N, Norsworthy, P J, Pravenec, M, Petretto, E, Huebner, N & Aitman, T J 2017, ' Genetic, physiological and comparative genomic studies of hypertension and insulin resistance in the spontaneously hypertensive rat ', Disease Models and Mechanisms, vol. 10, no. 3 . https://doi.org/10.1242/dmm.026716
Disease Models & Mechanisms, Vol 10, Iss 3, Pp 297-306 (2017)

We previously mapped hypertension-related insulin resistance quantitative trait loci (QTLs) to rat chromosomes 4, 12 and 16 using adipocytes from F2 crosses between spontaneously hypertensive (SHR) and Wistar Kyoto (WKY) rats, and subsequently identi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3704a7fcfb6fc2bae8fed27c2ce63346
http://edoc.mdc-berlin.de/16293/1/16293oa.pdf

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