Rosa Rademakers
2003–2025 年に発表
- 270
- 論文数
- 55,541
- 被引用数
- 116
- h 指数
- 259
- i10 指数
被引用数
引用元
国・地域
機関
分野
- Medicine56.7%
- Biochemistry, Genetics and Molecular Biology21.3%
- Neuroscience18.3%
- Immunology and Microbiology1.7%
- Computer Science0.4%
- Agricultural and Biological Sciences0.4%
- その他1.2%
トピック
- Amyotrophic Lateral Sclerosis Research11.3%
- Alzheimer's disease research and treatments10.3%
- Neuroinflammation and Neurodegeneration Mechanisms6%
- Neurogenetic and Muscular Disorders Research5%
- Parkinson's Disease Mechanisms and Treatments4.7%
- Dementia and Cognitive Impairment Research3.8%
- その他58.9%
共著者
- Dennis W. Dickson98
- Neill R. Graff‐Radford63
- Bradley F. Boeve59
- Matthew Baker49
- Keith A. Josephs48
- David S. Knopman45
- Leonard Petrucelli45
- Matt Baker39
- Melissa E. Murray39
- Ian R. Mackenzie38
- Ronald C. Petersen37
- Zbigniew K. Wszołek37
- Mariely DeJesus‐Hernandez36
- Marka van Blitterswijk35
- John C. van Swieten32
- Elizabeth Finger30
- Khrista Boylan30
- Caroline Graff29
- NiCole A. Finch29
- Tania F. Gendron29
- Giovanni Coppola28
- Daniela Galimberti26
- Bruce L. Miller25
- Robert Laforce25
全論文
- TREM2 Variants in Alzheimer's Disease
著者: Rita Guerreiro, Aleksandra Wojtas, José Brás, Minerva M. Carrasquillo, Ekaterina Rogaeva, Elisa Majounie, Carlos Cruchaga, Celeste Sassi, John Kauwe, Steven G. Younkin, Lili‐Naz Hazrati, John Collinge, Jennifer M. Pocock, Tammaryn Lashley, Julie Williams, Jean‐Charles Lambert, Philippe Amouyel, Alison Goate, Rosa Rademakers, Kevin Morgan, John Powell, Peter St George‐Hyslop, Andrew Singleton, John Hardy - New England Journal of Medicine 2012 被引用: 3,083
- Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS
著者: Mariely DeJesus‐Hernandez, Ian R. Mackenzie, Bradley F. Boeve, Adam L. Boxer, Matt Baker, Nicola J. Rutherford, Alexandra M. Nicholson, NiCole A. Finch, Heather C. Flynn, Jennifer Adamson, Naomi Kouri, Aleksandra Wojtas, Pheth Sengdy, Ging‐Yuek Robin Hsiung, Anna Karydas, William W. Seeley, Keith A. Josephs, Giovanni Coppola, Daniel H. Geschwind, Zbigniew K. Wszołek, Howard Feldman, David S. Knopman, Ronald C. Petersen, Bruce L. Miller, Dennis W. Dickson, Khrista Boylan, Neill R. Graff‐Radford, Rosa Rademakers - Neuron 2011 被引用: 4,971
- Limbic-predominant age-related TDP-43 encephalopathy (LATE): consensus working group report
著者: Peter T. Nelson, Dennis W. Dickson, John Q. Trojanowski, Clifford R. Jack, Patricia A. Boyle, Konstantinos Arfanakis, Rosa Rademakers, Irina Alafuzoff, Johannes Attems, Carol Brayne, Ian Coyle‐Gilchrist, Helena C. Chui, David W. Fardo, Margaret E. Flanagan, Glenda M. Halliday, Suvi R. K. Hokkanen, Sally Hunter, Gregory A. Jicha, Yuriko Katsumata, Claudia H. Kawas, C. Dirk Keene, Gábor G. Kovács, Walter A. Kukull, Allan I. Levey, Nazanin Makkinejad, Thomas J. Montine, Shigeo Murayama, Melissa E. Murray, Sukriti Nag, Robert A. Rissman, William W. Seeley, Reisa A. Sperling, Charles L. White, Lei Yu, Julie A. Schneider - Brain 2019 被引用: 1,546
- Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
著者: Wouter van Rheenen, Rick A. A. van der Spek, Mark K. Bakker, Joke J.F.A. van Vugt, Paul J. Hop, Ramona A.J. Zwamborn, Niek de Klein, Harm-Jan Westra, Olivier B. Bakker, Patrick Deelen, Gemma Shireby, Eilís Hannon, Matthieu Moisse, Denis Baird, Restuadi Restuadi, Egor Dolzhenko, Annelot M. Dekker, Klara Gawor, Henk‐Jan Westeneng, Gijs H.P. Tazelaar, Kristel R. van Eijk, Maarten Kooyman, Ross P. Byrne, Mark A. Doherty, Mark Heverin, Ahmad Al Khleifat, Alfredo Iacoangeli, Aleksey Shatunov, Nicola Ticozzi, Johnathan Cooper‐Knock, Bradley Smith, Marta Gromicho, Siddharthan Chandran, Suvankar Pal, Karen Morrison, Pamela J. Shaw, John Hardy, Richard W. Orrell, Michael Sendtner, Thomas Meyer, Nazlı Başak, Anneke J. van der Kooi, Antonia Ratti, Isabella Fogh, Cinzia Gellera, Giuseppe Lauria, Stefania Corti, Cristina Cereda, Daisy Sproviero, Sandra D’Alfonso, Gianni Sorarú, Gabriele Siciliano, Massimiliano Filosto, Alessandro Padovani, Adriano Chiò, Andrea Calvo, Cristina Moglia, Maura Brunetti, Antonio Canosa, Maurizio Grassano, Ettore Beghi, Elisabetta Pupillo, Giancarlo Logroscino, Beatrice Nefussy, Alma Osmanovic, Angelica Nordin, Yossef Lerner, Michal Zabari, Marc Gotkine, Robert H. Baloh, Shaughn Bell, Patrick Vourc’h, Philippe Corcia, Philippe Couratier, Stéphanie Millecamps, Vincent Meininger, François Salachas, Jesús S. Mora Pardina, Abdelilah Assialioui, Ricardo Rojas-García, Patrick A. Dion, Jay P. Ross, Albert C. Ludolph, Jochen H. Weishaupt, Dávid Brenner, Axel Freischmidt, Gilbert Bensimon, Alexis Brice, Alexandra Durr, C. Payán, Safa Saker-Delye, Nicholas Wood, Simon Topp, Rosa Rademakers, Lukas Tittmann, Wolfgang Lieb, André Franke, Stephan Ripke, Alice Braun, Julia Kraft ほか 182 名 - Nature Genetics 2021 被引用: 552
- Uncovering the heterogeneity and temporal complexity of neurodegenerative diseases with Subtype and Stage Inference
著者: Alexandra L. Young, Razvan Marinescu, Neil P. Oxtoby, Martina Bocchetta, Keir Yong, Nicholas C. Firth, David M. Cash, David L. Thomas, Katrina M. Dick, M. Jorge Cardoso, John C. van Swieten, Barbara Borroni, Daniela Galimberti, Mario Masellis, Maria Carmela Tartaglia, James B. Rowe, Caroline Graff, Fabrizio Tagliavini, Giovanni B. Frisoni, Robert Laforce, Elizabeth Finger, Alexandre de Mendonça, Sandro Sorbi, Jason D. Warren, Sebastian J. Crutch, Nick C. Fox, Sébastien Ourselin, Jonathan M. Schott, Jonathan D. Rohrer, Daniel C. Alexander, The Genetic FTD Initiative (GENFI), Christin Andersson, Silvana Archetti, Andrea Arighi, Luisa Benussi, Giuliano Binetti, Sandra E. Black, Maura Cosseddu, Marie Fallström, Carlos Ferreira, Chiara Fenoglio, Morris Freedman, Giorgio Fumagalli, Stefano Gazzina, Roberta Ghidoni, Marina Grisoli, Vesna Jelić, Lize C. Jiskoot, Ron Keren, Gemma Lombardi, Carolina Maruta, Lieke Meeter, Simon Mead, Rick van Minkelen, Benedetta Nacmias, Linn Öijerstedt, Alessandro Padovani, Jessica Panman, Michela Pievani, Cristina Polito, Enrico Premi, Sara Prioni, Rosa Rademakers, Veronica Redaelli, Ekaterina Rogaeva, Giacomina Rossi, Martin N. Rossor, Elio Scarpini, David F. Tang‐Wai, Håkan Thonberg, Pietro Tiraboschi, Ana Verdelho, The Alzheimer’s Disease Neuroimaging Initiative (ADNI), Michael W. Weiner, Paul Aisen, Ronald Petersen, Clifford R. Jack, William J. Jagust, John Q. Trojanowki, Arthur W. Toga, Laurel Beckett, Robert C. Green, Andrew J. Saykin, John C. Morris, Leslie M. Shaw, Zaven S. Khachaturian, Greg Sorensen, Lew Kuller, Marc Raichle, Steven M. Paul, Peter Davies, Howard Fillit, Franz Hefti, Davie Holtzman, M. Marcel Mesulam, William C. Potter, Peter J. Snyder, Adam Schwartz, Tom Montine, Ronald G. Thomas ほか 280 名 - Nature Communications 2018 被引用: 586
- Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS
著者: Hong Joo Kim, Nam Chul Kim, Yong‐Dong Wang, Emily A. Scarborough, Jennifer C. Moore, Zamia Diaz, Kyle S. MacLea, Brian D. Freibaum, Songqing Li, Amandine Molliex, Anderson Kanagaraj, Robert Carter, Khrista Boylan, Aleksandra Wojtas, Rosa Rademakers, Jack L. Pinkus, Steven A. Greenberg, John Q. Trojanowski, Bryan J. Traynor, Bradley Smith, Simon Topp, Athina-Soragia Gkazi, Jack W. Miller, Christopher E. Shaw, Michael Kottlors, Janbernd Kirschner, Alan Pestronk, Leslie A. Lange, Alice F. Ford, Aaron D. Gitler, Michael Benatar, Oliver D. King, Virginia Kimonis, Eric D. Ross, Conrad C. Weihl, James Shorter, J. Paul Taylor - Nature 2013 被引用: 1,518
- Progranulin Deficiency Promotes Circuit-Specific Synaptic Pruning by Microglia via Complement Activation
著者: Hansen Lui, Jiasheng Zhang, Stefanie Ritter Makinson, Michelle K. Cahill, Kevin W. Kelley, Hsin‐Yi Huang, Yulei Shang, Michael C. Oldham, Lauren Herl Martens, Fuying Gao, Giovanni Coppola, Steven A. Sloan, Christine L. Hsieh, Charles C. Kim, Eileen H. Bigio, Sandra Weıntraub, Marek-Marsel Mesulam, Rosa Rademakers, Ian R. Mackenzie, William W. Seeley, Anna Karydas, Bruce L. Miller, Barbara Borroni, Roberta Ghidoni, Robert V. Farese, Jeanne T. Paz, Ben A. Barres, Eric J. Huang - Cell 2016 被引用: 757
- TDP-43 pathology disrupts nuclear pore complexes and nucleocytoplasmic transport in ALS/FTD
著者: Ching‐Chieh Chou, Yi Zhang, Mfon Umoh, Spencer Vaughan, Ileana Lorenzini, Feilin Liu, Melissa Sayegh, Paul Donlin-Asp, Yu Han Chen, Duc M. Duong, Nicholas T. Seyfried, Maureen A. Powers, Thomas Kukar, Chadwick M. Hales, Marla Gearing, Nigel J. Cairns, Khrista Boylan, Dennis W. Dickson, Rosa Rademakers, Yong‐Jie Zhang, Leonard Petrucelli, Rita Sattler, Daniela C. Zarnescu, Jonathan D. Glass, Wilfried Rossoll - Nature Neuroscience 2018 被引用: 604
- Apolipoprotein E Is a Ligand for Triggering Receptor Expressed on Myeloid Cells 2 (TREM2)
著者: Yuka Atagi, Chia‐Chen Liu, Meghan M. Painter, Xiao‐Fen Chen, Christophe Verbeeck, Honghua Zheng, Xia Li, Rosa Rademakers, Silvia S. Kang, Huaxi Xu, Steven G. Younkin, Pritam Das, John Denis Fryer, Guojun Bu - Journal of Biological Chemistry 2015 被引用: 628
- Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17
著者: Matt Baker, Ian R. Mackenzie, Stuart Pickering‐Brown, Jennifer Gass, Rosa Rademakers, Caroline Lindholm, Julie S. Snowden, Jennifer Adamson, A. Dessa Sadovnick, Sara Rollinson, Ashley Cannon, Emily Dwosh, David Neary, Stacey Melquist, Anna Richardson, Dennis W. Dickson, Zdenek Berger, Jason L. Eriksen, Todd Robinson, Cynthia Zehr, Chad A. Dickey, Richard Crook, Eileen McGowan, David Mann, Bradley F. Boeve, Howard Feldman, Mike Hutton - Nature 2006 被引用: 2,121
- Unconventional Translation of C9ORF72 GGGGCC Expansion Generates Insoluble Polypeptides Specific to c9FTD/ALS
著者: Peter E.A. Ash, Kevin F. Bieniek, Tania F. Gendron, Thomas R. Caulfield, Wen-Lang Lin, Mariely DeJesus‐Hernandez, Marka van Blitterswijk, Karen Jansen‐West, Joseph W. Paul, Rosa Rademakers, Khrista Boylan, Dennis W. Dickson, Leonard Petrucelli - Neuron 2013 被引用: 1,110
- TIA1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Promote Phase Separation and Alter Stress Granule Dynamics
著者: Ian R. Mackenzie, Alexandra M. Nicholson, Mohona Sarkar, James Messing, Maria D. Purice, Cyril Pottier, Kavya Annu, Matt Baker, Ralph B. Perkerson, Aishe Kurti, Billie J. Matchett, Tanja Mittag, Jamshid Temirov, Ging‐Yuek Robin Hsiung, Charles Krieger, Melissa E. Murray, Masato Kato, John Denis Fryer, Leonard Petrucelli, Lorne Zinman, Sandra Weıntraub, Marsel Mesulam, Julia Keith, Sasha Živković, Veronica Hirsch‐Reinshagen, Raymond P. Roos, Stephan Züchner, Neill R. Graff‐Radford, Ronald C. Petersen, Richard J. Caselli, Zbigniew K. Wszołek, Elizabeth Finger, Carol F. Lippa, David Lacomis, Heather Stewart, Dennis W. Dickson, Hong Joo Kim, Ekaterina Rogaeva, Eileen H. Bigio, Khrista Boylan, J. Paul Taylor, Rosa Rademakers - Neuron 2017 被引用: 651
- Truncated stathmin-2 is a marker of TDP-43 pathology in frontotemporal dementia
著者: Mercedes Prudencio, Jack Humphrey, Sarah Pickles, Anna‐Leigh Brown, Sarah E. Hill, Jennifer M. Kachergus, Jianhua Shi, Michael G. Heckman, Matthew R. Spiegel, Casey Cook, Yuping Song, Mei Yue, Lillian M. Daughrity, Yari Carlomagno, Karen Jansen‐West, Cristhoper Fernandez De Castro, Michael DeTure, Shunsuke Koga, Ying‐Chih Wang, Prasanth Sivakumar, Cristian Bodo, Ana Candalija, Kevin Talbot, Bhuvaneish T. Selvaraj, Karen Burr, Siddharthan Chandran, Jia Newcombe, Tammaryn Lashley, Isabel Hubbard, Demetra Catalano, Duyang Kim, Nadia Propp, Samantha Fennessey, Delphine Fagegaltier, Hemali Phatnani, Maria Secrier, Elizabeth Fisher, Björn Oskarsson, Marka van Blitterswijk, Rosa Rademakers, N. R. Graff-Radford, Bradley F. Boeve, David S. Knopman, Ronald C. Petersen, Keith A. Josephs, E. Aubrey Thompson, Towfique Raj, Michael E. Ward, Dennis W. Dickson, Tania F. Gendron, Pietro Fratta, Leonard Petrucelli - Journal of Clinical Investigation 2020 被引用: 257
- Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions
著者: Vivianna M. Van Deerlin, Patrick Sleiman, Maria Martinez‐Lage, Alice Chen‐Plotkin, Li-San Wang, Neill R. Graff‐Radford, Dennis W. Dickson, Rosa Rademakers, Bradley F. Boeve, Murray Grossman, Steven E. Arnold, David Mann, Stuart Pickering‐Brown, Harro Seelaar, Peter Heutink, John C. van Swieten, Jill R. Murrell, Bernardino Ghetti, Salvatore Spina, Jordan Grafman, John R. Hodges, Maria Grazia Spillantini, Sid Gilman, Andrew P. Lieberman, Jeffrey Kaye, Randall L. Woltjer, Eileen H. Bigio, Marsel Mesulam, Safa Al‐Sarraj, Claire Troakes, Roger N. Rosenberg, Charles L. White, Isidró Ferrer, Albert Lladó, Manuela Neumann, Hans A. Kretzschmar, Christine M. Hulette, Kathleen A. Welsh‐Bohmer, Bruce L. Miller, Ainhoa Alzualde, Adolfo López de Munain, Ann C. McKee, Marla Gearing, Allan I. Levey, James J. Lah, John Hardy, Jonathan D. Rohrer, Tammaryn Lashley, Ian R. Mackenzie, Howard Feldman, Ronald L. Hamilton, Steven T. DeKosky, Julie van der Zee, Samir Kumar‐Singh, Christine Van Broeckhoven, Richard Mayeux, Jean Paul Vonsattel, Juan C. Troncoso, Jillian J. Kril, John B. Kwok, Glenda M. Halliday, Thomas D. Bird, Paul G. Ince, Pamela J. Shaw, Nigel J. Cairns, John C. Morris, Catriona McLean, Charles DeCarli, William G. Ellis, Stefanie H. Freeman, Matthew P. Frosch, John H. Growdon, Daniel P. Perl, Mary Sano, David A. Bennett, Julie A. Schneider, Thomas G. Beach, Eric M. Reiman, Bryan K. Woodruff, Jeffrey L. Cummings, Harry V. Vinters, Carol A. Miller, Helena C. Chui, Irina Alafuzoff, Päivi Hartikainen, Danielle Seilhean, Douglas Galasko, Eliezer Masliah, Carl W. Cotman, MJ Tuñón, Mònica Martínez, David G. Muñoz, Steven L. Carroll, Daniel Marson, Peter Riederer, Nenad Bogdanović, Gerard D Schellenberg, Håkon Håkonarson, John Q. Trojanowski, Virginia M.‐Y. Lee - Nature Genetics 2010 被引用: 609
- TDP-43 and FUS in amyotrophic lateral sclerosis and frontotemporal dementia
著者: Ian R. Mackenzie, Rosa Rademakers, Manuela Neumann - The Lancet Neurology 2010 被引用: 973
- Temporal order of clinical and biomarker changes in familial frontotemporal dementia
著者: Adam M. Staffaroni, Melanie Quintana, Barbara Wendelberger, Hilary W. Heuer, Lucy L. Russell, Yann Cobigo, Amy Wolf, Sheng‐Yang M. Goh, Leonard Petrucelli, Tania F. Gendron, Carolin Heller, Annie L Clark, Jack C. Taylor, Amy B. Wise, Elise Ong, Leah K. Forsberg, Danielle Brushaber, Julio C. Rojas, Lawren VandeVrede, Peter A. Ljubenkov, Joel H. Kramer, Kaitlin B. Casaletto, Brian S. Appleby, Yvette Bordelon, Hugo Botha, Bradford C. Dickerson, Kimiko Domoto‐Reilly, Julie A. Fields, Tatiana Foroud, Ralitza H. Gavrilova, Daniel H. Geschwind, Nupur Ghoshal, Jill Goldman, Jonathon Graff-Radford, Neill R. Graff‐Radford, Murray Grossman, Matthew Hall, Ging‐Yuek Robin Hsiung, Edward D. Huey, David J. Irwin, David T. Jones, Kejal Kantarci, Daniel Kaufer, David S. Knopman, Walter K. Kremers, Argentina Lario Lago, Maria I. Lapid, Irene Litvan, Diane Lucente, Ian R. Mackenzie, Mario F. Mendez, Carly Mester, Bruce L. Miller, Chiadi U. Onyike, Rosa Rademakers, Vijay K. Ramanan, Eliana Marisa Ramos, Meghana Rao, Katya Rascovsky, Katherine P. Rankin, Erik D. Roberson, Rodolfo Savica, Maria Carmela Tartaglia, Sandra Weıntraub, Bonnie Wong, David M. Cash, Arabella Bouzigues, Imogen J. Swift, Georgia Peakman, Martina Bocchetta, Emily Todd, Rhian S. Convery, James B. Rowe, Barbara Borroni, Daniela Galimberti, Pietro Tiraboschi, Mario Masellis, Elizabeth Finger, John C. van Swieten, Harro Seelaar, Lize C. Jiskoot, Sandro Sorbi, Christopher Butler, Caroline Graff, Alexander Gerhard, Tobias Langheinrich, Robert Laforce, Raquel Sánchez‐Valle, Alexandre de Mendonça, Fermín Moreno, Matthis Synofzik, Rik Vandenberghe, Simon Ducharme, Isabelle Le Ber, Johannes Levin, Adrian Danek, Markus Otto, Florence Pasquier, Isabel Santana, John Kornak ほか 148 名 - Nature Medicine 2022 被引用: 138
- Frontotemporal lobar degeneration
著者: Murray Grossman, William W. Seeley, Adam L. Boxer, Argye E. Hillis, David S. Knopman, Peter A. Ljubenov, Bruce L. Miller, Olivier Piguet, Rosa Rademakers, Jennifer L. Whitwell, Henrik Zetterberg, John C. van Swieten - Nature Reviews Disease Primers 2023 被引用: 156
- Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21
著者: Marc Cruts, Ilse Gijselinck, Julie van der Zee, Sebastiaan Engelborghs, Hans Wils, Daniel Pirici, Rosa Rademakers, Rik Vandenberghe, Bart Dermaut, Jean‐Jacques Martin, Cornelia M. van Duijn, Karin Peeters, Raf Sciot, Patrick Santens, Tim De Pooter, Maria Mattheijssens, Marleen Van den Broeck, Ivy Cuijt, Krist’l Vennekens, Peter Paul De Deyn, Samir Kumar‐Singh, Christine Van Broeckhoven - Nature 2006 被引用: 1,542
- Validation of serum neurofilaments as prognostic and potential pharmacodynamic biomarkers for ALS
著者: Michael Benatar, Lanyu Zhang, Lily Wang, Volkan Granit, Jeffrey Statland, Richard J. Barohn, Andrea Swenson, John Ravits, Carlayne E. Jackson, Ted M. Burns, Jaya Trivedi, Erik P. Pioro, James B. Caress, Jonathan Katz, Jacob L. McCauley, Rosa Rademakers, Andrea Malaspina, Lyle W. Ostrow, Joanne Wuu, Sumaira Hussain, Anne Cooley, Yindi Li, Marielle Wallace, Julie Steele, Jessica Hernandez, Jéssica Medina, Maria Elena Paredes, Ashley Manso, Natalia Ravelo, Wendy Levy, Patrice L. Whitehead, Stephan Züchner, Mamatha Pasnoor, Omar Jawdat, Duaa Jabari, Constantine Farmakidis, Melanie Glenn, Mazen M. Dimachkie, Laura Herbelin, Hellen Tanui, Sherri Anderson, Michaela Walker, Tina Liu, Ayla McCally, Andrew Heim, Melissa Currence, Yolanda Harness, Jeri Sieren, Emilee Gibson, G. Garcia Gutierrez, Danielle Bussey, Rose Previte, Pamella Kittrell, Amruta Joshi, Amy Conger, Debbie Hastings, Irys Caristo, Mozhdeh Marandi, Simon Carty, J. Paul Taylor, Gang Wu, Evadnie Rampersaud, Rebecca Schüle, Marka van Blitterswijk - Neurology 2020 被引用: 202
- Homotypic fibrillization of TMEM106B across diverse neurodegenerative diseases
著者: Andrew Chang, Xinyu Xiang, Jing Wang, Carolyn Lee, Tamta Arakhamia, Marija Simjanoska, Chi Wang, Yari Carlomagno, Guoan Zhang, Shikhar Dhingra, Manon Thierry, Jolien Perneel, Bavo Heeman, Lauren M. Forgrave, Michael DeTure, Mari L. DeMarco, Casey Cook, Rosa Rademakers, Dennis W. Dickson, Leonard Petrucelli, Michael H. B. Stowell, Ian R. Mackenzie, Anthony W. P. Fitzpatrick - Cell 2022 被引用: 166
- Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids
著者: Rosa Rademakers, Matt Baker, Alexandra M. Nicholson, Nicola J. Rutherford, NiCole A. Finch, Alexandra I. Soto‐Ortolaza, Jennifer Lash, Christian Wider, Aleksandra Wojtas, Mariely DeJesus‐Hernandez, Jennifer Adamson, Naomi Kouri, Christina Sundal, Elizabeth A. Shuster, Jan Aasly, J. M. MacKenzie, Sigrun Roeber, Hans A. Kretzschmar, Bradley F. Boeve, David S. Knopman, Ronald C. Petersen, Nigel J. Cairns, Bernardino Ghetti, Salvatore Spina, James Garbern, Alexandros Tselis, Ryan J. Uitti, Pritam Das, Jay A. van Gerpen, James F. Meschia, Shawn Levy, Daniel F. Broderick, Neill R. Graff‐Radford, Owen A. Ross, Bradley B. Miller, Russell H. Swerdlow, Dennis W. Dickson, Zbigniew K. Wszołek - Nature Genetics 2011 被引用: 579
- Detection of long repeat expansions from PCR-free whole-genome sequence data
著者: Egor Dolzhenko, Joke J.F.A. van Vugt, Richard J. Shaw, Mitchell A. Bekritsky, Marka van Blitterswijk, Giuseppe Narzisi, Subramanian S. Ajay, Vani Rajan, Bryan R. Lajoie, Nathan Johnson, Zoya Kingsbury, Sean Humphray, Raymond D. Schellevis, William J. Brands, Matt Baker, Rosa Rademakers, Maarten Kooyman, Gijs H.P. Tazelaar, Michael A. van Es, Russell L. McLaughlin, William Sproviero, Aleksey Shatunov, Ashley Jones, Ahmad Al Khleifat, Alan Pittman, Sarah Morgan, Orla Hardiman, Ammar Al‐Chalabi, Christopher E. Shaw, Bradley Smith, Edmund Jin Rui Neo, Karen Morrison, Pamela J. Shaw, Catherine Reeves, Lara Winterkorn, Nancy S. Wexler, David E. Housman, Christopher Ng, Alina Li, Ryan J. Taft, Leonard H. van den Berg, David Bentley, Jan H. Veldink, Michael A. Eberle - Genome Research 2017 被引用: 437
- Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy
著者: PSP Genetics Study Group, Günter U. Höglinger, Nadine M Melhem, Dennis W. Dickson, Patrick Sleiman, Li-San Wang, Lambertus Klei, Rosa Rademakers, Rohan de Silva, Irene Litvan, David E. Riley, John C. van Swieten, Peter Heutink, Zbigniew K. Wszołek, Ryan J. Uitti, Jana Vandrovcová, Howard I. Hurtig, Owen A. Ross, Walter Maetzler, Stefano Goldwurm, Eduardo Tolosa, Barbara Borroni, Pau Pástor, Laura B. Cantwell, Mi Ryung Han, Allissa Dillman, Marcel P. van der Brug, J. Raphael Gibbs, Mark Cookson, Dena G. Hernandez, Andrew Singleton, Matthew J. Farrer, Chang-En Yu, Lawrence I. Golbe, Tamás Révész, John Hardy, Andrew J. Lees, Bernie Devlin, Håkon Håkonarson, Ulrich Müller, Gerard D Schellenberg - Nature Genetics 2011 被引用: 632
- Antisense transcripts of the expanded C9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD/ALS
著者: Tania F. Gendron, Kevin F. Bieniek, Yong‐Jie Zhang, Karen Jansen‐West, Peter E.A. Ash, Thomas R. Caulfield, Lillian M. Daughrity, Judith Dunmore, Monica Castanedes‐Casey, Jeannie Chew, Danielle M. Cosio, Marka van Blitterswijk, Chris W. Lee, Rosa Rademakers, Khrista Boylan, Dennis W. Dickson, Leonard Petrucelli - Acta Neuropathologica 2013 被引用: 589
