Zobrazeno 1 - 10
of 183
pro vyhledávání: '"Kawalia, A."'
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:
Rong Zhang, Jan Gehlen, Amit Kawalia, Maria-Theodora Melissari, Tikam Chand Dakal, Athira M Menon, Julia Höfele, Korbinian Riedhammer, Lea Waffenschmidt, Julia Fabian, Katinka Breuer, Jeshurun Kalanithy, Alina Christine Hilger, Amit Sharma, Alice Hölscher, Thomas M Boemers, Markus Pauly, Andreas Leutner, Jörg Fuchs, Guido Seitz, Barbara M Ludwikowski, Barbara Gomez, Jochen Hubertus, Andreas Heydweiller, Ralf Kurz, Johannes Leonhardt, Ferdinand Kosch, Stefan Holland-Cunz, Oliver Münsterer, Beno Ure, Eberhard Schmiedeke, Jörg Neser, Petra Degenhardt, Stefanie Märzheuser, Katharina Kleine, Mattias Schäfer, Nicole Spychalski, Oliver J Deffaa, Jan-Hendrik Gosemann, Martin Lacher, Stefanie Heilmann-Heimbach, Nadine Zwink, Ekkehart Jenetzky, Michael Ludwig, Phillip Grote, Johannes Schumacher, Holger Thiele, Heiko Reutter
Publikováno v:
PLoS ONE, Vol 15, Iss 6, p e0234246 (2020)
INTRODUCTION:Esophageal atresia with or without tracheoesophageal fistula (EA/TEF) occurs approximately 1 in 3.500 live births representing the most common malformation of the upper digestive tract. Only half a century ago, EA/TEF was fatal among aff
Externí odkaz:
https://doaj.org/article/e65c671b393f40a3941b948d3cfe6051
Autor:
Kamel Jabbari, Dheeraj R Bobbili, Dennis Lal, Eva M Reinthaler, Julian Schubert, Stefan Wolking, Vishal Sinha, Susanne Motameny, Holger Thiele, Amit Kawalia, Janine Altmüller, Mohammad Reza Toliat, Robert Kraaij, Jeroen van Rooij, André G Uitterlinden, M Arfan Ikram, EuroEPINOMICS CoGIE Consortium, Federico Zara, Anna-Elina Lehesjoki, Roland Krause, Fritz Zimprich, Thomas Sander, Bernd A Neubauer, Patrick May, Holger Lerche, Peter Nürnberg
Publikováno v:
PLoS ONE, Vol 13, Iss 8, p e0202022 (2018)
Genetic Generalized Epilepsy (GGE) and benign epilepsy with centro-temporal spikes or Rolandic Epilepsy (RE) are common forms of genetic epilepsies. Rare copy number variants have been recognized as important risk factors in brain disorders. We perfo
Externí odkaz:
https://doaj.org/article/72a79269650447db8c756454ccaa3158
Autor:
Maha Zaki, Michaela Thoenes, Amit Kawalia, Peter Nürnberg, Rolf Kaiser, Raoul Heller, Hanno J. Bolz
Publikováno v:
Frontiers in Genetics, Vol 8 (2017)
In an Egyptian girl born to consanguineous parents, whole-exome sequencing (WES) identified a homozygous mutation in PHGDH, c.1273G>A (p.Val425Met), indicating 3-phosphoglycerate dehydrogenase deficiency. This diagnosis was compatible with the patien
Externí odkaz:
https://doaj.org/article/c9c737265926492fbfd9bc347f825641
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
Autor:
Janine Altmüller, Birgit Budde, Holger Thiele, Susanne Motameny, Peter Nürnberg, Kathryn Konrad, Eman Abdel Fattah Sayed, Christian Becker, Mostafa R. Mohamed, Andreas Breß, Mohammad R. Toliat, Enass S. Mohamed, Amit Kawalia, Markus Pfister, Gudrun Nürnberg, Maha Abdelgaber Aly
Publikováno v:
Clinical Genetics. 98:32-42
Nonsyndromic hearing loss is an extremely heterogeneous disorder. Thus, clinical diagnostics is challenging, in particular due to differences in the etiology of hearing loss between populations. With this study, we wanted to elucidate the genetic bas
Autor:
Amit Kawalia, Susanne Motameny, Stephan Wonczak, Holger Thiele, Lech Nieroda, Kamel Jabbari, Stefan Borowski, Vishal Sinha, Wilfried Gunia, Ulrich Lang, Viktor Achter, Peter Nürnberg
Publikováno v:
PLoS ONE, Vol 10, Iss 5, p e0126321 (2015)
Next generation sequencing (NGS) has been a great success and is now a standard method of research in the life sciences. With this technology, dozens of whole genomes or hundreds of exomes can be sequenced in rather short time, producing huge amounts
Externí odkaz:
https://doaj.org/article/f9221666786444fa8c4de881906d5c4f
Autor:
Eva Maria Christina Schwaibold, Katharina Schoner, Harald von Pein, Haluk Topaloglu, Harald Ehrhardt, Goknur Haliloglu, Raoul Heller, Haicui Wang, Mona Kreutzer, Mireille Cossée, Andreas Hahn, Slavica Ostojic, Anne Schänzer, Cho-Ming Chao, Mert Karakaya, Özgür Duman, Janine Altmüller, Nursel Elcioglu, Susanne Motameny, Hülya-Sevcan Daimagüler, Holger Thiele, Anne Koy, Özkan Özdemir, Sebahattin Cirak, Marion Imbert-Bouteille, Kerstin Becker, Amit Kawalia, Jens Reimann, Peter Nürnberg, Matthias Pergande, Jens H. Westhoff
Publikováno v:
Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, 2020, 22 (3), pp.511-523. ⟨10.1038/s41436-019-0680-1⟩
Genetics in Medicine, Nature Publishing Group, 2020, 22 (3), pp.511-523. ⟨10.1038/s41436-019-0680-1⟩
International audience; Fetal akinesia has multiple clinical subtypes with over 160 gene associations, but the genetic etiology is not yet completely understood.Methods: In this study, 51 patients from 47 unrelated families were analyzed using next-g
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b66fd42acdd9a9ae00d13a2ec529b45b
https://hal.umontpellier.fr/hal-03376439
https://hal.umontpellier.fr/hal-03376439
Autor:
Peter Nürnberg, Katharina Schoner, Haluk Topaloglu, Goknur Haliloglu, Janine Altmüller, Mert Karakaya, Harald Ehrhardt, Hülya-Sevcan Daimagüler, Susanne Motameny, Sebahattin Cirak, Anne Koy, Eva Maria Christina Schwaibold, Mona Kreutzer, Kerstin Becker, Cho-Ming Chao, Marion Imbert-Bouteille, Haicui Wang, Matthias Pergande, Amit Kawalia, Jens H. Westhoff, Jens Reimann, Slavica Ostojic, Harald von Pein, Nursel Elcioglu, Özkan Özdemir, Mireille Cossée, Andreas Hahn, Özgür Duman, Holger Thiele, Raoul Heller, Anne Schänzer
Publikováno v:
Genetics in Medicine. 22:1426-1428
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
Autor:
Rebecca Sims, Detelina Grozeva, John Hardy, Jordi Clarimón, Cornelia M. van Duijn, Gaël Nicolas, Kin Y. Mok, Najaf Amin, Maryam Shoai, Benjamin Grenier-Boley, Jeroen van Rooij, Philippe Amouyel, Oriol Dols-Icardo, Holger Hummerich, Shahzad Ahmad, Penny Norsworthy, Henne Holstege, Olivier Quenez, Amit Kawalia, Marc Hulsman, Camille Charbonnier, Alfredo Ramirez, Julie Williams, Simon Mead, Céline Bellenguez, John C. van Swieten, Jean-Charles Lambert, Wiesje M. van der Flier
Publikováno v:
Alzheimer's & Dementia. 16