J. Raphael Gibbs
2002–2025 年に発表
- 別表記
- J Raphael Gibbs
- 108
- 論文数
- 28,803
- 被引用数
- 77
- h 指数
- 106
- i10 指数
被引用数
引用元
国・地域
機関
分野
- Medicine52.6%
- Biochemistry, Genetics and Molecular Biology33.5%
- Neuroscience9.2%
- Psychology1.4%
- Immunology and Microbiology1.2%
- Computer Science0.4%
- その他1.7%
トピック
- Parkinson's Disease Mechanisms and Treatments9.3%
- Amyotrophic Lateral Sclerosis Research7.1%
- Alzheimer's disease research and treatments4.8%
- Genetic Associations and Epidemiology3.6%
- Neurogenetic and Muscular Disorders Research3.6%
- Neurological diseases and metabolism3%
- その他68.6%
共著者
- Andrew Singleton39
- Dena Hernández37
- John Hardy35
- Cornelis Blauwendraat33
- Sonja W. Scholz29
- Jinhui Ding25
- José Brás25
- Mark Cookson23
- Mike A. Nalls22
- Javier Simón‐Sánchez21
- Sara Bandrés‐Ciga21
- Bryan J. Traynor19
- Rita Guerreiro18
- Alastair J. Noyce17
- Dena G. Hernandez17
- Michael A. Nalls17
- Hampton L. Leonard16
- Hirotaka Iwaki16
- Sampath Arepalli16
- Huw R. Morris15
- Kimberley J. Billingsley15
- Mina Ryten15
- Daniah Trabzuni14
- Mary B. Makarious14
全論文
- Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies
著者: Mike A. Nalls, Cornelis Blauwendraat, Costanza L. Vallerga, Karl Heilbron, Sara Bandrés‐Ciga, Diana Chang, Manuela Tan, Demis A. Kia, Alastair J. Noyce, Angli Xue, José Brás, Emily Young, Rainer von Coelln, Javier Simón-Sánchez, Claudia Schulte, Manu Sharma, Lynne Krohn, Lasse Pihlstrøm, Ari Siitonen, Hirotaka Iwaki, Hampton L. Leonard, Faraz Faghri, J Raphael Gibbs, Dena Hernández, Sonja W. Scholz, Juan A. Botía, María Martínez, Jean‐Christophe Corvol, Suzanne Lesage, Joseph Jankovic, Lisa M. Shulman, Margaret Sutherland, Pentti J. Tienari, Kari Majamaa, Mathias Toft, Ole A. Andreassen, Tushar Bangale, Alexis Brice, Jian Yang, Ziv Gan‐Or, Thomas Gasser, Peter Heutink, Joshua Shulman, Nicholas Wood, David A. Hinds, John Hardy, Huw R Morris, Jacob Gratten, Peter M. Visscher, Robert Graham, Andrew B Singleton, Astrid Adarmes‐Gómez, Miquel Aguilar, Akbota Aitkulova, Vadim Akhmetzhanov, Roy N. Alcalay, Ignacio Álvarez, Victoria Álvarez, Sara Bandrés‐Ciga, Francisco Javier Barrero, Jesús Alberto Bergareche Yarza, Inmaculada Bernal‐Bernal, Kimberley J. Billingsley, Cornelis Blauwendraat, Marta Blazquez, Marta Bonilla‐Toribio, Juan A. Botía, María Teresa Boungiorno, José Brás, Alexis Brice, Kathrin Brockmann, Vivien J. Bubb, Dolores Buiza‐Rueda, Anna Maria Novella Càmara, Fátima Carrillo, Mario Carrión‐Claro, Debora Cerdan, Viorica Chelban, Jordi Clarimón, Carl E Clarke, Yaroslau Compta, Mark Cookson, Jean‐Christophe Corvol, David W. Craig, Fabrice Danjou, Mónica Díez-Fairén, Oriol Dols‐Icardo, J. Duarte, Raquel Durán, Francisco Escamilla‐Sevilla, Valentina Escott‐Price, Mario Ezquerra, Faraz Faghri, Cici Feliz, Manel Fernández, Rubén Fernández‐Santiago, Steven Finkbeiner, Thomas Foltynie, Ziv Gan‐Or, Ciara García ほか 170 名 - The Lancet Neurology 2019 被引用: 2,541
- A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD
著者: Alan E. Renton, Elisa Majounie, Adrian J. Waite, Javier Simón‐Sánchez, Sara Rollinson, J. Raphael Gibbs, Jennifer C. Schymick, Hannu Laaksovirta, John C. van Swieten, Liisa Myllykangas, Hannu Kalimo, Anders Paetau, Yevgeniya Abramzon, Anne M. Remes, Alice Kaganovich, Sonja W. Scholz, Jamie Duckworth, Jinhui Ding, Daniel W. Harmer, Dena G. Hernandez, Janel O. Johnson, Kin Y. Mok, Mina Ryten, Daniah Trabzuni, Rita Guerreiro, Richard W. Orrell, James Neal, Alex Murray, Justin Pearson, Iris E. Jansen, David Sondervan, Harro Seelaar, Derek J. Blake, Kate Young, Nicola Halliwell, Janis Bennion Callister, Greg Toulson, Anna Richardson, Alexander Gerhard, Julie S. Snowden, David Mann, David Neary, Michael A. Nalls, Terhi Peuralinna, Lilja Jansson, Veli‐Matti Isoviita, Anna-Lotta Kaivorinne, Maarit Hölttä‐Vuori, Elina Ikonen, Raimo Sulkava, Michael Benatar, Joanne Wuu, Adriano Chiò, Gabriella Restagno, Giuseppe Borghero, Mario Sabatelli, David Heckerman, Ekaterina Rogaeva, Lorne Zinman, Jeffrey D. Rothstein, Michael Sendtner, Carsten Drepper, Evan E. Eichler, Can Alkan, Ziedulla Abdullaev, Svetlana Pack, Amalia Dutra, Evgenia Pak, John Hardy, Andrew Singleton, Nigel Williams, Peter Heutink, Stuart Pickering‐Brown, Huw R. Morris, Pentti J. Tienari, Bryan J. Traynor - Neuron 2011 被引用: 4,469
- Genome-wide association study reveals genetic risk underlying Parkinson's disease
著者: Javier Simón‐Sánchez, Claudia Schulte, José Brás, Manu Sharma, J. Raphael Gibbs, Daniela Berg, Coro Paisán-Ruı́z, Peter Lichtner, Sonja W. Scholz, Dena Hernández, Rejko Krüger, Monica Federoff, Christine Klein, Alison Goate, Joel S. Perlmutter, Michael von Bonin, Michael A. Nalls, Thomas Illig, Christian Gieger, Henry Houlden, Michael Steffens, Michael S. Okun, Brad A. Racette, Mark Cookson, Kelly D. Foote, Hubert H. Fernandez, Bryan J. Traynor, Stefan Schreiber, Sampath Arepalli, Ryan R. Zonozi, Katrina Gwinn, Marcel van der Brug, Grisel Lopez, Stephen J. Chanock, Arthur Schatzkin, Yikyung Park, Albert R. Hollenbeck, Jianjun Gao, Xuemei Huang, Nick W Wood, Delia Lorenz, Günther Deuschl, Honglei Chen, Olaf Rieß, John Hardy, Andrew Singleton, Thomas Gasser - Nature Genetics 2009 被引用: 1,954
- The transcriptional landscape of age in human peripheral blood
著者: Marjolein J. Peters, Roby Joehanes, Luke C. Pilling, Claudia Schurmann, Karen N. Conneely, Joseph E. Powell, Eva Reinmaa, George L. Sutphin, Alexandra Zhernakova, Katharina Schramm, Yana A. Wilson, Sayuko Kobes, Taru Tukiainen, Michael A. Nalls, Dena Hernández, Mark Cookson, J. Raphael Gibbs, John Hardy, Adaikalavan Ramasamy, Alan B. Zonderman, Allissa Dillman, Bryan J. Traynor, Colin Smith, Dan L. Longo, Daniah Trabzuni, Juan C. Troncoso, Marcel van der Brug, Michael E. Weale, Richard M. O’Brien, Robert Johnson, Robert Walker, Ronald H. Zielke, Sampath Arepalli, Mina Ryten, Andrew Singleton, Y.F. Ramos, Harald H.H. Göring, Myriam Fornage, Ching‐Ti Liu, Sina A. Gharib, Barbara E. Stranger, Philip L. De Jager, Abraham Aviv, Daniel Levy, Joanne M. Murabito, Peter J. Munson, Tianxiao Huan, Albert Hofman, André G. Uitterlinden, Fernando Rivadeneira, Jeroen van Rooij, Lisette Stolk, Linda Broer, Michaël Verbiest, Mila Jhamai, Pascal Arp, Andres Metspalu, Liina Tserel, Lili Milani, Nilesh J. Samani, Pärt Peterson, Silva Kasela, Veryan Codd, Annette Peters, Cavin Ward‐Caviness, Christian Herder, Mélanie Waldenberger, Michael Roden, Paula Singmann, Sonja Zeilinger, Thomas Illig, Georg Homuth, Hans J. Grabe, Henry Völzke, Leif Steil, Thomas Kocher, Anna Murray, David Melzer, Hanieh Yaghootkar, Stefania Bandinelli, Eric K. Moses, Jack W. Kent, Joanne E. Curran, Matthew P. Johnson, Sarah Williams‐Blangero, Harm-Jan Westra, Allan F. McRae, Jennifer A. Smith, Sharon L. R. Kardia, Iiris Hovatta, Markus Perola, Samuli Ripatti, Veikko Salomaa, Anjali K. Henders, Nicholas G. Martin, Alicia K. Smith, Divya Mehta, Elisabeth B. Binder, K. Maria Nylocks, Elizabeth M. Kennedy ほか 37 名 - Nature Communications 2015 被引用: 760
- Finding genetically-supported drug targets for Parkinson’s disease using Mendelian randomization of the druggable genome
著者: Catherine S. Storm, Demis A. Kia, Mona Mohammad Almramhi, Sara Bandrés‐Ciga, Chris Finan, Alastair J. Noyce, Rauan Kaiyrzhanov, Ben Middlehurst, Manuela Tan, Henry Houlden, Huw R. Morris, Hélène Plun‐Favreau, Peter Holmans, John Hardy, Daniah Trabzuni, John P. Quinn, Vivien J. Bubb, Kin Y. Mok, Kerri J. Kinghorn, Patrick A. Lewis, Sebastian R. Schreglmann, Ruth C. Lovering, Lea R’Bibo, Claudia Manzoni, Mie Rizig, Mina Ryten, Sebastian Guelfi, Valentina Escott‐Price, Viorica Chelban, Thomas Foltynie, Nigel Williams, Karen Morrison, Carl E Clarke, Kirsten Harvey, Benjamin M. Jacobs, Alexis Brice, Fabrice Danjou, Suzanne Lesage, Jean‐Christophe Corvol, María Martínez, Claudia Schulte, Kathrin Brockmann, Javier Simón‐Sánchez, Peter Heutink, Patrizia Rizzu, Manu Sharma, Thomas Gasser, Susanne A. Schneider, Mark Cookson, Cornelis Blauwendraat, David W. Craig, Kimberley J. Billingsley, Mary B. Makarious, Derek P. Narendra, Faraz Faghri, J. Raphael Gibbs, Dena Hernández, Kendall Van Keuren‐Jensen, Joshua Shulman, Hirotaka Iwaki, Hampton L. Leonard, Mike A. Nalls, Laurie Robak, José Brás, Rita Guerreiro, Steven Lubbe, Timothy Troycoco, Steven Finkbeiner, Niccolò E. Mencacci, Codrin Lungu, Andrew Singleton, Sonja W. Scholz, Xylena Reed, Ryan J. Uitti, Owen A. Ross, Francis P. Grenn, Anni Moore, Roy N. Alcalay, Zbigniew K. Wszołek, Ziv Gan‐Or, Guy A. Rouleau, Lynne Krohn, Kheireddin Mufti, Jacobus J. van Hilten, Johan Marinus, Astrid D. Adarmes-Gómez, Miquel Aguilar, Ignacio Álvarez, Victoria Álvarez, Francisco Javier Barrero, Jesús Alberto Bergareche Yarza, Inmaculada Bernal‐Bernal, Marta Blázquez Estrada, Marta Bonilla‐Toribio, Juan A. Botía, María Teresa Boungiorno, Dolores Buiza‐Rueda, Ana Cámara, Fátima Carrillo, Mario Carrión‐Claro ほか 75 名 - Nature Communications 2021 被引用: 214
- Excessive burden of lysosomal storage disorder gene variants in Parkinson’s disease
著者: Laurie Robak, Iris E. Jansen, Jeroen van Rooij, André G. Uitterlinden, Robert Kraaij, Joseph Jankovic, Peter Heutink, Joshua Shulman, Mike A. Nalls, Vincent Plagnol, Dena G Hernandez, Manu Sharma, Una‐Marie Sheerin, Mohamad Saad, Javier Simón‐Sánchez, Claudia Schulte, Suzanne Lesage, Sigurlaug Sveinbjörnsdóttir, Sampath Arepalli, Roger A. Barker, Yoav Ben-, Henk W. Berendse, Daniela Berg, Kailash P. Bhatia, Rob M.A. de Bie, Alessandro Biffi, Bas Bloem, Zoltán Bochdanovits, Michael von Bonin, José Brás, Kathrin Brockmann, Janet Brooks, David J. Burn, Elisa Majounie, Gavin Charlesworth, Codrin Lungu, Honglei Chen, Patrick F. Chinnery, Sean Chong, Carl E Clarke, Mark Cookson, Jonathan M. Cooper, Jean‐Christophe Corvol, Carl Counsell, Philippe Damier, Jean‐François Dartigues, Panos Deloukas, Günther Deuschl, David T. Dexter, Karin D. van Dijk, Allissa Dillman, F. Durif, Alexandra Dürr, Sarah Edkins, Jonathan Evans, Thomas Foltynie, Jing Dong, Michelle Gardner, J. Raphael Gibbs, Alison Goate, Emma Gray, Rita Guerreiro, Clare Harris, Jacobus J. van Hilten, Albert Hofman, Albert R. Hollenbeck, Janice L. Holton, Michele Hu, Xuemei Huang, Isabel Wurster, Walter Mätzler, Gavin Hudson, Sarah Hunt, Johanna Huttenlocher, Thomas Illig, Pálmi V. Jónsson, Jean‐Charles Lambert, Cordelia Langford, Andrew J. Lees, Peter Lichtner, Patricia Limousin, Grisel Lopez, Delia Lorenz, Codrin Lungu, Alisdair McNeill, Catriona Moorby, Matthew Moore, Huw R. Morris, Karen Morrison, Valentina Escott‐Price, Ese Mudanohwo, Sean S. O’Sullivan, Justin Pearson, Joel S. Perlmutter, Hjörvar Pétursson, Pierre Pollak, Bart Post, Simon Potter, Bernard Ravina, Tamás Révész ほか 40 名 - Brain 2017 被引用: 451
- Genome-wide Pleiotropy Between Parkinson Disease and Autoimmune Diseases
著者: Aree Witoelar, Iris E. Jansen, Yunpeng Wang, Rahul S. Desikan, J. Raphael Gibbs, Cornelis Blauwendraat, Wesley K. Thompson, Dena G. Hernandez, Srdjan Djurovic, Andrew J. Schork, Francesco Bettella, David Ellinghaus, Andre Franke, Benedicte A. Lie, Linda K. McEvoy, Tom H. Karlsen, Suzanne Lesage, Huw R. Morris, Alexis Brice, Nicholas Wood, Peter Heutink, John Hardy, Andrew B. Singleton, Anders M. Dale, Thomas Gasser, Ole A. Andreassen, Manu Sharma - JAMA Neurology 2017 被引用: 378
- Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS
著者: Janel O. Johnson, Jessica Mandrioli, Michael Benatar, Yevgeniya Abramzon, Vivianna M. Van Deerlin, John Q. Trojanowski, J. Raphael Gibbs, Maura Brunetti, Susan Gronka, Joanne Wuu, Jinhui Ding, Leo McCluskey, Maria Martinez‐Lage, Dana Falcone, Dena Hernández, Sampath Arepalli, Sean Chong, Jennifer C. Schymick, Jeffrey D. Rothstein, Francesco Landi, Yong-Dong Wang, Andrea Calvo, Gabriele Mora, Mario Sabatelli, Maria Rosaria Monsurrò, Stefania Battistini, Fabrizio Salvi, Rossella Spataro, Patrizia Sola, Giuseppe Borghero, Giuliana Galassi, Sonja W. Scholz, J. Paul Taylor, Gabriella Restagno, Adriano Chiò, Bryan J. Traynor - Neuron 2010 被引用: 1,226
- Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy
著者: Suzanne Lesage, Valérie Drouet, Elisa Majounie, Vincent Deramecourt, Maxime Jacoupy, Aude Nicolas, Florence Cormier‐Dequaire, Sidi Mohamed Hassoun, Claire Pujol, Sorana Ciura, Zoi Erpapazoglou, Tatiana Usenko, Claude‐Alain Maurage, Mourad Sahbatou, Stefan Liebau, Jinhui Ding, Başar Bılgıç, Murat Emre, Nihan Erginel‐Ünaltuna, Gamze Güven, François Tison, Christine Tranchant, Marie Vidailhet, Jean‐Christophe Corvol, Paul Krack, Anne‐Louise Leutenegger, Michael A. Nalls, Dena G. Hernandez, Peter Heutink, J. Raphael Gibbs, John Hardy, Nicholas Wood, Thomas Gasser, Alexandra Dürr, Jean‐François Deleuze, Mériem Tazir, A. Destée, Ebba Lohmann, Edor Kabashi, Andrew Singleton, Olga Corti, Alexis Brice, Suzanne Lesage, François Tison, Marie Vidailhet, Jean‐Christophe Corvol, Yves Agid, Mathieu Anheim, Anne-Marie Bonnet, Michel Borg, Emmanuel Broussolle, Philippe Damier, A. Destée, Alexandra Dürr, Franck Durif, Paul Krack, Stephan Klebe, Ebba Lohmann, María Martínez, Pierre Pollak, Olivier Rascol, Christine Tranchant, Marc Vérin, François Viallet, Alexis Brice, Suzanne Lesage, Elisa Majounie, François Tison, Marie Vidailhet, Jean‐Christophe Corvol, Michael A. Nalls, Dena G. Hernandez, J. Raphael Gibbs, Alexandra Dürr, Sampath Arepalli, Roger A. Barker, Yoav Ben‐Shlomo, Daniela Berg, Francesco Bettella, Kailash P. Bhatia, Rob M.A. de Bie, Alessandro Biffi, Bastiaan R. Bloem, Zoltán Bochdanovits, Michael von Bonin, Suzanne Lesage, François Tison, Marie Vidailhet, Jean‐Christophe Corvol, Yves Agid, Mathieu Anheim, Anne-Marie Bonnet, Michel Borg, Emmanuel Broussolle, Philippe Damier, A. Destée, Alexandra Dürr, Franck Durif, Paul Krack, Stephan Klebe ほか 123 名 - The American Journal of Human Genetics 2016 被引用: 447
- Parkinson's disease age at onset genome‐wide association study: Defining heritability, genetic loci, and α‐synuclein mechanisms
著者: Cornelis Blauwendraat, Karl Heilbron, Costanza L. Vallerga, Sara Bandrés‐Ciga, Rainer von Coelln, Lasse Pihlstrøm, Javier Simón‐Sánchez, Claudia Schulte, Manu Sharma, Lynne Krohn, Ari Siitonen, Hirotaka Iwaki, Hampton L. Leonard, Alastair J. Noyce, Manuela Tan, J. Raphael Gibbs, Dena Hernández, Sonja W. Scholz, Joseph Jankovic, Lisa M. Shulman, Suzanne Lesage, Jean‐Christophe Corvol, Alexis Brice, Jacobus J. van Hilten, Johan Marinus, Johanna Eerola‐Rautio, Pentti J. Tienari, Kari Majamaa, Mathias Toft, Donald G. Grosset, Thomas Gasser, Peter Heutink, Joshua Shulman, Nicolas Wood, John Hardy, Huw R. Morris, David A. Hinds, Jacob Gratten, Peter M. Visscher, Ziv Gan‐Or, Mike A. Nalls, Andrew Singleton - Movement Disorders 2019 被引用: 374
- Genetic modifiers of risk and age at onset in GBA associated Parkinson’s disease and Lewy body dementia
著者: Cornelis Blauwendraat, Xylena Reed, Lynne Krohn, Karl Heilbron, Sara Bandrés‐Ciga, Manuela Tan, J. Raphael Gibbs, Dena Hernández, Ravindran Kumaran, Rebekah G. Langston, Luis Bonet‐Ponce, Roy N. Alcalay, Sharon Hassin‐Baer, Lior Greenbaum, Hirotaka Iwaki, Hampton L. Leonard, Francis P. Grenn, Jennifer A. Ruskey, Marya S. Sabir, Sarah Ahmed, Mary B. Makarious, Lasse Pihlstrøm, Mathias Toft, Jacobus J. van Hilten, Johan Marinus, Claudia Schulte, Kathrin Brockmann, Manu Sharma, Ari Siitonen, Kari Majamaa, Johanna Eerola‐Rautio, Pentti J. Tienari, Alexander Pantelyat, Argye E. Hillis, Ted M. Dawson, Liana S. Rosenthal, Marilyn S. Albert, Susan M. Resnick, Luigi Ferrucci, Christopher M. Morris, Olga Pletnikova, Juan C. Troncoso, Donald G. Grosset, Suzanne Lesage, Jean‐Christophe Corvol, Alexis Brice, Alastair J. Noyce, Eliezer Masliah, Nick Wood, John Hardy, Lisa M. Shulman, Joseph Jankovic, Joshua Shulman, Peter Heutink, Thomas Gasser, Paul Cannon, Sonja W. Scholz, Huw R. Morris, Mark Cookson, Mike A. Nalls, Ziv Gan‐Or, Andrew Singleton - Brain 2019 被引用: 245
- Identification of Candidate Parkinson Disease Genes by Integrating Genome-Wide Association Study, Expression, and Epigenetic Data Sets
著者: Demis A. Kia, David Zhang, Sebastian Guelfi, Claudia Manzoni, Leon Hubbard, Regina H. Reynolds, Juan A. Botía, Mina Ryten, Raffaele Ferrari, Patrick A. Lewis, Nigel Williams, Daniah Trabzuni, John Hardy, Nicholas Wood, Alastair J. Noyce, Rauan Kaiyrzhanov, Ben Middlehurst, Demis A. Kia, Manuela Tan, Henry Houlden, Huw R. Morris, Hélène Plun‐Favreau, Peter Holmans, John Hardy, Daniah Trabzuni, José Brás, John P. Quinn, Kin Y. Mok, Kerri J. Kinghorn, Kimberley J. Billingsley, Nicholas Wood, Patrick A. Lewis, Sebastian R. Schreglmann, Rita Guerreiro, Ruth C. Lovering, Lea R’Bibo, Claudia Manzoni, Mie Rizig, Mina Ryten, Sebastian Guelfi, Valentina Escott‐Price, Viorica Chelban, Thomas Foltynie, Nigel Williams, Alexis Brice, Fabrice Danjou, Suzanne Lesage, Jean‐Christophe Corvol, María Martínez, Claudia Schulte, Kathrin Brockmann, Javier Simón‐Sánchez, Peter Heutink, Patrizia Rizzu, Manu Sharma, Thomas Gasser, Aude Nicolas, Mark Cookson, Sara Bandrés‐Ciga, Cornelis Blauwendraat, David W. Craig, Faraz Faghri, J. Raphael Gibbs, Dena Hernández, Kendall Van Keuren‐Jensen, Joshua Shulman, Hampton L. Leonard, Mike A. Nalls, Laurie Robak, Steven Lubbe, Steven Finkbeiner, Niccolò E. Mencacci, Codrin Lungu, Andrew Singleton, Sonja W. Scholz, Xylena Reed, Roy N. Alcalay, Ziv Gan‐Or, Guy A. Rouleau, Lynne Krohn, Jacobus J. van Hilten, Johan Marinus, Astrid Adarmes‐Gómez, Miquel Aguilar, Ignacio Álvarez, Victoria Álvarez, Francisco Javier Barrero, Jesús Alberto Bergareche Yarza, Inmaculada Bernal‐Bernal, Marta Blázquez Estrada, Marta Bonilla‐Toribio, Juan A. Botía, María Teresa Boungiorno, Dolores Buiza‐Rueda, Anna Maria Novella Càmara, Fátima Carrillo, Mario Carrión‐Claro, Debora Cerdan, Jordi Clarimón, Yaroslau Compta ほか 63 名 - JAMA Neurology 2021 被引用: 203
- 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
- Genetic determinants of survival in progressive supranuclear palsy: a genome-wide association study
著者: Edwin Jabbari, Shunsuke Koga, Rebecca R. Valentino, Regina H. Reynolds, Raffaele Ferrari, Manuela Tan, James B. Rowe, Clifton L. Dalgard, Sonja W. Scholz, Dennis W. Dickson, Thomas T. Warner, Tamás Révész, Günter U. Höglinger, Owen A. Ross, Mina Ryten, John Hardy, Maryam Shoai, Huw R. Morris, Kin Y. Mok, David Murphy, Safa Al‐Sarraj, Claire Troakes, Steve M. Gentleman, Kieren Allinson, Zane Jaunmuktane, Janice L. Holton, Andrew J. Lees, Christopher M. Morris, Yaroslau Compta, Ellen Gelpí, John C. van Swieten, Alex Rajput, Leslie W. Ferguson, Mark Cookson, J. Raphael Gibbs, Cornelis Blauwendraat, Jinhui Ding, Ruth Chia, Bryan J. Traynor, Alexander Pantelyat, Coralie Viollet, Bryan J. Traynor, Olga Pletniková, Juan C. Troncoso, Liana S. Rosenthal, Adam L. Boxer, Gesine Respondek, Thomas Arzberger, Sigrun Roeber, Armin Giese, David J. Burn, Nicola Pavese, Alexander Gerhard, Christopher Kobylecki, P. Nigel Leigh, Alistair Church, Michele T.M. Hu - The Lancet Neurology 2020 被引用: 120
- Association of a common genetic variant with Parkinson’s disease is mediated by microglia
著者: Rebekah G. Langston, Alexandra Beilina, Xylena Reed, Alice Kaganovich, Andrew Singleton, Cornelis Blauwendraat, J. Raphael Gibbs, Mark Cookson - Science Translational Medicine 2022 被引用: 97
- Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis
著者: ITALSGEN, Janel O. Johnson, Erik P. Pioro, Ashley Boehringer, Ruth Chia, Howard Feit, Alan E. Renton, Hannah A. Pliner, Yevgeniya Abramzon, Giuseppe Marangi, Brett J Winborn, J. Raphael Gibbs, Michael A. Nalls, Sarah Morgan, Maryam Shoai, John Hardy, Alan Pittman, Richard W. Orrell, Andrea Malaspina, Katie Sidle, Pietro Fratta, Matthew B. Harms, Robert H. Baloh, Alan Pestronk, Conrad C. Weihl, Ekaterina Rogaeva, Lorne Zinman, Vivian E. Drory, Giuseppe Borghero, Gabriele Mora, Andrea Calvo, Jeffrey D. Rothstein, Carsten Drepper, Michael Sendtner, Andrew Singleton, J. Paul Taylor, Mark Cookson, Gabriella Restagno, Mario Sabatelli, Robert Bowser, Adriano Chiò, Bryan J. Traynor - Nature Neuroscience 2014 被引用: 443
- Using Exome Sequencing to Reveal Mutations in TREM2 Presenting as a Frontotemporal Dementia–like Syndrome Without Bone Involvement
著者: Rita Guerreiro, Ebba Lohmann, José Brás, J. Raphael Gibbs, Jonathan D. Rohrer, Nicole Gurunlian, Burcu Dursun, Başar Bılgıç, Haşmet Hanağası, Hakan Gürvıt, Murat Emre, Andrew Singleton, John Hardy - JAMA Neurology 2013 被引用: 386
- Accelerating Medicines Partnership: Parkinson's Disease. Genetic Resource
著者: Hirotaka Iwaki, Hampton L. Leonard, Mary B. Makarious, Matt Bookman, Barry Landin, David Vismer, Bradford Casey, J. Raphael Gibbs, Dena Hernández, Cornelis Blauwendraat, Dan Vitale, Yeajin Song, Dinesh Kumar, Clifton L. Dalgard, Mahdiar Sadeghi, Xianjun Dong, Leonie Misquitta, Sonja W. Scholz, Clemens R. Scherzer, Mike A. Nalls, Shameek Biswas, Andrew Singleton, AMP PD Whole Genome Sequencing Working Group - Movement Disorders 2021 被引用: 131
- RNA sequencing of whole blood reveals early alterations in immune cells and gene expression in Parkinson’s disease
著者: David W. Craig, Elizabeth Hutchins, Ivo Violich, Eric Alsop, J. Raphael Gibbs, Shawn Levy, Madison Robison, Nripesh Prasad, Tatiana Foroud, Karen Crawford, Arthur W. Toga, Timothy G. Whitsett, Seungchan Kim, Bradford Casey, Alyssa Reimer, Samantha J. Hutten, Mark Frasier, Fabian Kern, Tobias Fehlman, Andreas Keller, Mark Cookson, Kendall Van Keuren‐Jensen, Parkinson Progression Marker Initiative, Samantha J. Hutten, Kendall Van Keuren‐Jensen - Nature Aging 2021 被引用: 99
- MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies
著者: Daniah Trabzuni, Selina Wray, Jana Vandrovcová, Adaikalavan Ramasamy, Robert Walker, Colin Smith, Connie Luk, J. Raphael Gibbs, Allissa Dillman, Dena Hernández, Sampath Arepalli, Andrew Singleton, Mark Cookson, Alan Pittman, Rohan de Silva, Michael E. Weale, John Hardy, Mina Ryten - Human Molecular Genetics 2012 被引用: 260
- Diagnosis of Parkinson's disease on the basis of clinical and genetic classification: a population-based modelling study
著者: Mike A. Nalls, Cory Y. McLean, Jacqueline Rick, Shirley Eberly, Samantha J. Hutten, Katrina Gwinn, Margaret Sutherland, María Martínez, Peter Heutink, Nigel Williams, John Hardy, Thomas Gasser, Alexis Brice, T. Ryan Price, Aude Nicolas, Margaux F. Keller, Cliona Molony, J. Raphael Gibbs, Alice Chen‐Plotkin, EunRan Suh, Christopher Letson, Massimo S. Fiandaca, Mark Mapstone, Howard J. Federoff, Alastair J. Noyce, Huw R. Morris, Vivianna M. Van Deerlin, Daniel Weintraub, Cyrus P. Zabetian, Dena G. Hernandez, Suzanne Lesage, Meghan Mullins, Emily Drabant Conley, Carrie A. M. Northover, Mark Frasier, Kenneth Marek, Aaron Day-Williams, David J. Stone, John P. A. Ioannidis, Andrew Singleton - The Lancet Neurology 2015 被引用: 224
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著者: Hirotaka Iwaki, Cornelis Blauwendraat, Hampton L. Leonard, Mary B. Makarious, Jonggeol J. Kim, Ganqiang Liu, Jodi Maple‐Grødem, Jean‐Christophe Corvol, Lasse Pihlstrøm, Marlies van Nimwegen, Luba Smolensky, Ninad Amondikar, Samantha J. Hutten, Mark Frasier, Khanh‐Dung H. Nguyen, Jacqueline Rick, Shirley Eberly, Faraz Faghri, Peggy Auinger, Kirsten M. Scott, Ruwani Wijeyekoon, Vivianna M. Van Deerlin, Dena G. Hernandez, J. Raphael Gibbs, Aaron Day-Williams, Alexis Brice, Guido Alves, Alastair J. Noyce, Ole‐Bjørn Tysnes, Jonathan Evans, David P. Breen, Karol Estrada, Claire Wegel, Fabrice Danjou, David K. Simon, Ole A. Andreassen, Bernard Ravina, Mathias Toft, Peter Heutink, Bastiaan R. Bloem, Daniel Weintraub, Roger A. Barker, Caroline H. Williams‐Gray, Bart P. van de Warrenburg, Jacobus J. van Hilten, Clemens R. Scherzer, Andrew B. Singleton, Mike A. Nalls - Movement Disorders 2020 被引用: 101
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著者: Mary B. Makarious, Julie Lake, Vanessa Pitz, Allen Ye Fu, Joseph L. Guidubaldi, Caroline Warly Solsberg, Sara Bandrés‐Ciga, Hampton L. Leonard, Jonggeol Jeffrey Kim, Kimberley J. Billingsley, Francis P. Grenn, Pilar Álvarez Jerez, Chelsea X. Alvarado, Hirotaka Iwaki, Michael Ta, Dan Vitale, Dena Hernández, Ali Torkamani, Mina Ryten, John Hardy, Sonja W. Scholz, Bryan J. Traynor, Clifton L. Dalgard, Debra Ehrlich, Toshiko Tanaka, Luigi Ferrucci, Thomas G. Beach, Geidy E. Serrano, Raquel Real, Huw R. Morris, Jinhui Ding, J. Raphael Gibbs, Andrew Singleton, Mike A. Nalls, Tushar Bhangale, Cornelis Blauwendraat - Brain 2023 被引用: 52
- Identification of sixteen novel candidate genes for late onset Parkinson’s disease
著者: Alessandro Gialluisi, Mafalda Giovanna Reccia, Nicola Modugno, Teresa Nutile, Alessia Lombardi, Luca Giovanni Di Giovannantonio, Sara Pietracupa, Daniela Ruggiero, Simona Scala, Stefano Gambardella, Alastair J. Noyce, Rauan Kaiyrzhanov, Ben Middlehurst, Demis A. Kia, Manuela Tan, Henry Houlden, Huw R. Morris, Hélène Plun‐Favreau, Peter Holmans, John Hardy, Daniah Trabzuni, John P. Quinn, Vivien J. Bubb, Kin Y. Mok, Kerri J. Kinghorn, Kimberley J. Billingsley, Nicholas Wood, Patrick A. Lewis, Sebastian R. Schreglmann, Ruth C. Lovering, Lea R’Bibo, Claudia Manzoni, Mie Rizig, Mina Ryten, Sebastian Guelfi, Valentina Escott‐Price, Viorica Chelban, Thomas Foltynie, Nigel Williams, Karen Morrison, Carl E Clarke, Alexis Brice, Fabrice Danjou, Suzanne Lesage, Jean‐Christophe Corvol, María Martínez, Claudia Schulte, Kathrin Brockmann, Javier Simón‐Sánchez, Peter Heutink, Patrizia Rizzu, Manu Sharma, Thomas Gasser, Mark Cookson, Sara Bandrés‐Ciga, Cornelis Blauwendraat, David W. Craig, Derek P. Narendra, Faraz Faghri, J. Raphael Gibbs, Dena Hernández, Kendall Van Keuren‐Jensen, Joshua Shulman, Hirotaka Iwaki, Hampton L. Leonard, Mike A. Nalls, Laurie Robak, José Brás, Rita Guerreiro, Steven Lubbe, Steven Finkbeiner, Niccolò E. Mencacci, Codrin Lungu, Andrew Singleton, Sonja W. Scholz, Xylena Reed, Roy N. Alcalay, Ziv Gan‐Or, Guy A. Rouleau, Lynne Krohn, Lynne Krohn, Jacobus J. van Hilten, Johan Marinus, Astrid Adarmes‐Gómez, Miquel Aguilar, Ignacio Álvarez, Victoria Álvarez, Francisco Javier Barrero, Jesús Alberto Bergareche Yarza, Inmaculada Bernal‐Bernal, Marta Blazquez, Marta Bonilla‐Toribio, Juan A. Botía, María Teresa Boungiorno, Dolores Buiza‐Rueda, Fátima Carrillo, Mario Carrión‐Claro, Debora Cerdan, Jordi Clarimón, Yaroslau Compta ほか 79 名 - Molecular Neurodegeneration 2021 被引用: 89
