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LRRK2 mutations in Parkinson disease; a sex effect or lack thereof? A meta-analysis

Autor: Gan-Or, Ziv, Leblond, Claire S., Mallett, Victoria, Orr-Urtreger, Avi, Dion, Patrick A., Rouleau, Guy A.

Publikováno v: In Parkinsonism and Related Disorders July 2015 21(7):778-782

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

Autor: FALS Sequencing Consortium, Cirulli, Elizabeth T., Lasseigne, Brittany N., Petrovski, Slavé, Sapp, Peter C., Dion, Patrick A., Leblond, Claire S., Couthouis, Julien, Lu, Yi-Fan, Wang, Quanli, Krueger, Brian J., Ren, Zhong, Keebler, Jonathan, Han, Yujun, Levy, Shawn E., Boone, Braden E., Wimbish, Jack R., Waite, Lindsay L., Jones, Angela L., Carulli, John P., Day-Williams, Aaron G., Staropoli, John F., Xin, Winnie W., Chesi, Alessandra, Raphael, Alya R., McKenna-Yasek, Diane, Cady, Janet, de Jong, J. M. B. Vianney, Kenna, Kevin P., Smith, Bradley N., Topp, Simon, Miller, Jack, Gkazi, Athina, Al-Chalabi, Ammar, van den Berg, Leonard H., Veldink, Jan, Silani, Vincenzo, Ticozzi, Nicola, Shaw, Christopher E., Baloh, Robert H., Appel, Stanley, Simpson, Ericka, Lagier-Tourenne, Clotilde, Pulst, Stefan M., Gibson, Summer, Trojanowski, John Q., Elman, Lauren, McCluskey, Leo, Grossman, Murray, Shneider, Neil A., Chung, Wendy K., Ravits, John M., Glass, Jonathan D., Sims, Katherine B., Van Deerlin, Vivianna M., Maniatis, Tom, Hayes, Sebastian D., Ordureau, Alban, Swarup, Sharan, Landers, John, Baas, Frank, Allen, Andrew S., Bedlack, Richard S., Harper, J. Wade, Gitler, Aaron D., Rouleau, Guy A., Brown, Robert, Harms, Matthew B., Cooper, Gregory M., Harris, Tim, Myers, Richard M., Goldstein, David B.

Publikováno v: Science, 2015 Mar . 347(6229), 1436-1441.

Externí odkaz: http://www.jstor.org/stable/24746614

Genetic correlates of phenotypic heterogeneity in autism

Autor: Warrier, Varun, Zhang, Xinhe, Reed, Patrick, Havdahl, Alexandra, Moore, Tyler M., Cliquet, Freddy, Leblond, Claire S., Rolland, Thomas, Rosengren, Anders, Caceres, Antonia San Jose, Hayward, Hannah, Crawley, Daisy, Faulkner, Jessica, Sabet, Jessica, Ellis, Claire, Oakley, Bethany, Loth, Eva, Charman, Tony, Murphy, Declan, Holt, Rosemary, Waldman, Jack, Upadhyay, Jessica, Gunby, Nicola, Lai, Meng-Chuan, Renouf, Gwilym, Ruigrok, Amber, Taylor, Emily, Ziauddeen, Hisham, Deakin, Julia, di Bruttopilo, Sara Ambrosino, van Dijk, Sarai, Rijks, Yvonne, Koops, Tabitha, Douma, Miriam, Spaan, Alyssia, Selten, Iris, Steffers, Maarten, van Themaat, Anna Ver Loren, Bast, Nico, Baumeister, Sarah, O’Dwyer, Larry, Bours, Carsten, Rausch, Annika, von Rhein, Daniel, Cornelissen, Ineke, de Bruin, Yvette, Graauwmans, Maartje, Kostrzewa, Elzbieta, Cauvet, Elodie, Tammimies, Kristiina, Sitnikow, Rouslan, Dumas, Guillaume, Kim, Yang-Min, Bourgeron, Thomas, Hougaard, David M., Bybjerg-Grauholm, Jonas, Werge, Thomas, Mortensen, Preben Bo, Mors, Ole, Nordentoft, Merete, Adhya, Dwaipayan, Alamanza, Armandina, Allison, Carrie, Garvey, Isabelle, Parsons, Tracey, Smith, Paula, Tsompanidis, Alex, Burton, Graham J., Heazell, Alexander E. P., Gabis, Lidia V., Biron-Shental, Tal, Lancaster, Madeline A., Srivastava, Deepak P., Mill, Jonathan, Rowitch, David H., Hurles, Matthew E., Geschwind, Daniel H., Børglum, Anders D., Robinson, Elise B., Grove, Jakob, Martin, Hilary C., Baron-Cohen, Simon

Publikováno v: Warrier, Varun Zhang, Xinhe Reed, Patrick Havdahl, Alexandra Moore, Tyler M. Cliquet, Freddy Leblond, Claire S. Rolland, Thomas Rosengren, Anders Caceres, Antonia San Jose Hayward, Hannah Crawley, Daisy Faulkner, Jessica Sabet, Jessica Ellis, Claire Oakley, Bethany Loth, Eva Charman, Tony Murphy, Declan Holt, Rosemary Waldman, Jack Upadhyay, Jessica Gunby, Nicola Lai, Meng-Chuan Renouf, Gwilym Ruigrok, Amber Taylor, Emily Ziauddeen, Hisham Deakin, Julia di Bruttopilo, Sara Ambrosino van Dijk, Sarai Rijks, Yvonne Koops, Tabitha Douma, Miriam Spaan, Alyssia Selten, Iris Steffers, Maarten van Themaat, Anna Ver Loren Bast, Nico Baumeister, Sarah O’Dwyer, Larry Bours, Carsten Rausch, Annika von Rhein, Daniel Cornelissen, Ineke de Bruin, Yvette Graauwmans, Maartje Kostrzewa, Elzbieta Cauvet, Elodie Tammimies, Kristiina Sitnikow, Rouslan Dumas, Guillaume Kim, Yang-Min Bourgeron, Thomas Hougaard, David M. Bybjerg-Grauholm, Jonas Werge, Thomas Mortensen, Preben Bo Mors, Ole Nordentoft, Merete Adhya, Dwaipayan Alamanza, Armandina Allison, Carrie Garvey, Isabelle Parsons, Tracey Smith, Paula Tsompanidis, Alex Burton, Graham J. Heazell, Alexander E. P. Gabis, Lidia V. Biron-Shental, Tal Lancaster, Madeline A. Srivastava, Deepak P. Mill, Jonathan Rowitch, David H. Hurles, Matthew E. Geschwind, Daniel H. Børglum, Anders D. Robinson, Elise B. Grove, Jakob Martin, Hilary C. Bourgeron, Thomas Baron-Cohen, Simon . Genetic correlates of phenotypic heterogeneity in autism. Nature Genetics. 2022, 54(9), 1293-1304
Nature Genetics

Externí odkaz: http://hdl.handle.net/10852/101389