Javier Simón‐Sánchez
2006–2024 年に発表
- 別表記
- Javier Simón-Sánchez
- 52
- 論文数
- 19,095
- 被引用数
- 43
- h 指数
- 50
- i10 指数
被引用数
引用元
国・地域
機関
分野
- Medicine61.3%
- Biochemistry, Genetics and Molecular Biology27.9%
- Neuroscience8.4%
- Immunology and Microbiology0.7%
- Computer Science0.3%
- Nursing0.3%
- その他1.1%
トピック
- Parkinson's Disease Mechanisms and Treatments12.1%
- Amyotrophic Lateral Sclerosis Research9.7%
- Neurogenetic and Muscular Disorders Research4.9%
- Alzheimer's disease research and treatments4.6%
- Neurological diseases and metabolism3.9%
- Genetic Neurodegenerative Diseases3.4%
- その他61.4%
共著者
- J. Raphael Gibbs23
- Andrew Singleton17
- John Hardy17
- José Brás17
- Sonja W. Scholz16
- Cornelis Blauwendraat15
- Peter Heutink14
- Alastair J. Noyce12
- Dena Hernández12
- Kin Y. Mok12
- Claudia Schulte11
- Dena G. Hernandez11
- Henry Houlden11
- Manu Sharma11
- Rita Guerreiro11
- Demis A. Kia10
- Huw R. Morris10
- Sara Bandrés‐Ciga10
- Suzanne Lesage10
- Manuela Tan9
- Mike A. Nalls9
- Daniah Trabzuni8
- Juan A. Botía8
- Nicholas Wood8
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
- Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study
著者: Elisa Majounie, Alan E. Renton, Kin Y. Mok, Elise G.P. Dopper, Adrian J. Waite, Sara Rollinson, Adriano Chiò, Gabriella Restagno, Nayia Nicolaou, Javier Simón‐Sánchez, John C. van Swieten, Yevgeniya Abramzon, Janel O. Johnson, Michael Sendtner, Roger Pamphlett, Richard W. Orrell, Simon Mead, Katie Sidle, Henry Houlden, Jonathan D. Rohrer, Karen Morrison, Hardev Pall, Kevin Talbot, Olaf Ansorge, Dena G. Hernandez, Sampath Arepalli, Mario Sabatelli, Gabriele Mora, Massimo Corbo, Fabio Giannini, Andrea Calvo, Elisabet Englund, Giuseppe Borghero, Gianluca Floris, Anne M. Remes, Hannu Laaksovirta, Leo McCluskey, John Q. Trojanowski, Vivianna M. Van Deerlin, Gerard D. Schellenberg, Michael A. Nalls, Vivian E. Drory, Chin‐Song Lu, Tu‐Hsueh Yeh, Hiroyuki Ishiura, Yuji Takahashi, Shoji Tsuji, Isabelle Le Ber, Alexis Brice, Carsten Drepper, Nigel Williams, Janine Kirby, Pamela J. Shaw, John Hardy, Pentti J. Tienari, Peter Heutink, Huw R. Morris, Stuart Pickering‐Brown, Bryan J. Traynor - The Lancet Neurology 2012 被引用: 1,226
- 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
- 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
- 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 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
- Mitochondria function associated genes contribute to Parkinson’s Disease risk and later age at onset
著者: Kimberley J. Billingsley, Inês A. Barbosa, Sara Bandrés‐Ciga, John P. Quinn, Vivien J. Bubb, Charu Deshpande, Juan A. Botía, Regina H. Reynolds, David Zhang, Michael A. Simpson, Cornelis Blauwendraat, Ziv Gan‐Or, J. Raphael Gibbs, Mike A. Nalls, Andrew Singleton, Alastair J. Noyce, Arianna Tucci, Ben Middlehurst, Demis A. Kia, Mingpu Tan, Henry Houlden, Huw R. Morris, Hélène Plun‐Favreau, Peter Holmans, John Hardy, Daniah Trabzuni, José Brás, Kin Y. Mok, Kerri J. Kinghorn, Nicholas Wood, Patrick A. Lewis, Rita Guerreiro, Ruth C. Lovering, Lea R’Bibo, Mie Rizig, Valentina Escott‐Price, Viorica Chelban, Thomas Foltynie, N. Williams, Alexis Brice, Fabrice Danjou, Suzanne Lesage, María Martínez, Ayush Giri, Claudia Schulte, Kathrin Brockmann, Javier Simón‐Sánchez, Peter Heutink, Patrizia Rizzu, Manu Sharma, Thomas Gasser, Aude Nicolas, Mark Cookson, Faraz Faghri, Dena Hernández, J. Shulman, Laurie Robak, Steven Lubbe, Steven Finkbeiner, Niccolò E. Mencacci, Codrin Lungu, Sonja W. Scholz, Xylena Reed, Hampton L. Leonard, Guy A. Rouleau, Lynne Krohan, JJ van Hilten, Johan Marinus, Astrid Adarmes‐Gómez, M. Aguilar, Ignacio Álvarez, Victoria Álvarez, Francisco Javier Barrero, J. Bergareche Yarza, Inmaculada Bernal‐Bernal, M. Blazquez, Magally Bernal, María Teresa Boungiorno, Dolores Buiza‐Rueda, Ana Cámara, María Cárcel, F. Carrillo, Mario Carrión‐Claro, Debora Cerdan, Jordi Clarimón, Yaroslau Compta, Mónica Díez-Fairén, Oriol Dols‐Icardo, J. Duarte, R. l. Duran, Francisco Escamilla‐Sevilla, Mario Ezquerra, Manel Fernández, Rubén Fernández‐Santiago, C. Garcı́a, Pedro Ruiz, Pilar Gómez‐Garre, Mégane Heredia, Isabel González Aramburu, Ana Gorostidi Pagola ほか 45 名 - npj Parkinson s Disease 2019 被引用: 161
- Genome-wide analyses as part of the international FTLD-TDP whole-genome sequencing consortium reveals novel disease risk factors and increases support for immune dysfunction in FTLD
著者: Cyril Pottier, Yingxue Ren, Ralph B. Perkerson, Matt Baker, Gregory D. Jenkins, Marka van Blitterswijk, Mariely DeJesus‐Hernandez, Jeroen van Rooij, Melissa E. Murray, Elizabeth Christopher, Shannon K. McDonnell, Zachary C. Fogarty, Anthony Batzler, Shulan Tian, Cristina T. Vicente, Billie J. Matchett, Anna M. Karydas, Ging‐Yuek Robin Hsiung, Harro Seelaar, Merel O. Mol, Elizabeth Finger, Caroline Graff, Linn Öijerstedt, Manuela Neumann, Peter Heutink, Matthis Synofzik, Carlo Wilke, Johannes Prudlo, Patrizia Rizzu, Javier Simón‐Sánchez, Dieter Edbauer, Sigrun Roeber, Janine Diehl‐Schmid, Bret M. Evers, Andrew King, Marsel Mesulam, Sandra Weıntraub, Changiz Geula, Kevin F. Bieniek, Leonard Petrucelli, Geoffrey L. Ahern, Eric M. Reiman, Bryan K. Woodruff, Richard J. Caselli, Edward D. Huey, Martin R. Farlow, Jordan Grafman, Simon Mead, Lea T. Grinberg, Salvatore Spina, Murray Grossman, David J. Irwin, Edward B. Lee, EunRan Suh, Julie S. Snowden, David Mann, Nilüfer Ertekin‐Taner, Ryan J. Uitti, Zbigniew K. Wszołek, Keith A. Josephs, Joseph E. Parisi, David S. Knopman, Ronald C. Petersen, John R. Hodges, Olivier Piguet, Ethan G. Geier, Jennifer S. Yokoyama, Robert A. Rissman, Ekaterina Rogaeva, Julia Keith, Lorne Zinman, Maria Carmela Tartaglia, Nigel J. Cairns, Carlos Cruchaga, Bernardino Ghetti, Julia Kofler, Oscar L. López, Thomas G. Beach, Thomas Arzberger, Jochen Herms, Lawrence S. Honig, Jean Paul Vonsattel, Glenda M. Halliday, John B. Kwok, Charles L. White, Marla Gearing, Jonathan D. Glass, Sara Rollinson, Stuart Pickering‐Brown, Jonathan D. Rohrer, John Q. Trojanowski, Vivianna Van Deerlin, Eileen H. Bigio, Claire Troakes, Safa Al‐Sarraj, Yan W. Asmann, Bruce L. Miller, Neill R. Graff‐Radford, Bradley F. Boeve, William W. Seeley ほか 5 名 - Acta Neuropathologica 2019 被引用: 128
- Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies
著者: Michael A Nalls, Michael A. Nalls, Vincent Plagnol, Dena G Hernandez, Manu Sharma, Una‐Marie Sheerin, Mohamad Saad, Javier Simón‐Sánchez, Claudia Schulte, Suzanne Lesage, Sigurlaug Sveinbjörnsdóttir, Maria Martinez, María Martínez, John Hardy, Peter Heutink, Alexis Brice, Thomas Gasser, Andrew B. Singleton - The Lancet 2011 被引用: 919
- Moving beyond neurons: the role of cell type-specific gene regulation in Parkinson’s disease heritability
著者: Regina H. Reynolds, Juan A. Botía, Mike A. Nalls, Alastair J. Noyce, Aude Nicolas, Mark Cookson, Sara Bandrés‐Ciga, J. Raphael Gibbs, Dena G. Hernandez, Andrew Singleton, Xylena Reed, Hampton L. Leonard, Cornelis Blauwendraat, Faraz Faghri, José Brás, Rita Guerreiro, Arianna Tucci, Demis A. Kia, Henry Houlden, Hélène Plun‐Favreau, Kin Y. Mok, Nicholas Wood, Ruth C. Lovering, Lea R’Bibo, Mie Rizig, Viorica Chelban, Daniah Trabzuni, Manuela Tan, Huw R. Morris, Ben Middlehurst, John P. Quinn, Kimberley J. Billingsley, Peter Holmans, Kerri J. Kinghorn, Patrick A. Lewis, Valentina Escott‐Price, Nigel Williams, Thomas Foltynie, Alexis Brice, Fabrice Danjou, Suzanne Lesage, Jean‐Christophe Corvol, María Martínez, Anamika Giri, Claudia Schulte, Kathrin Brockmann, Javier Simón‐Sánchez, Peter Heutink, Thomas Gasser, Patrizia Rizzu, Manu Sharma, Joshua Shulman, Laurie Robak, Steven Lubbe, Niccolò E. Mencacci, Steven Finkbeiner, Codrin Lungu, Sonja W. Scholz, Ziv Gan‐Or, Guy A. Rouleau, Lynne Krohan, Jacobus J. van Hilten, Johan Marinus, Astrid Adarmes‐Gómez, Inmaculada Bernal‐Bernal, Marta Bonilla‐Toribio, Dolores Buiza‐Rueda, Fátima Carrillo, Mario Carrión‐Claro, Pablo Mir, Pilar Gómez‐Garre, Silvia Jesús, Miguel A. Labrador‐Espinosa, Daniel Macías, Laura Vargas‐González, Carlota Méndez‐del‐Barrio, María Teresa Periñán, Cristina Tejera‐Parrado, Mónica Díez-Fairén, Miquel Aguilar, Ignacio Álvarez, María Teresa Boungiorno, María Cárcel, Pau Pástor, Juan Pablo Tartari, Victoria Álvarez, Manuel Menéndez‐González, Marta Blázquez Estrada, Ciara García, Esther Suárez-Sanmartín, Francisco Javier Barrero, Elisabet Mondragón Rezola, Jesús Alberto Bergareche Yarza, Ana Gorostidi Pagola, Adolfo López de Munaín Arregui, Javier Ruiz‐Martínez, Debora Cerdan, J. Duarte, Jordi Clarimón, Oriol Dols‐Icardo ほか 68 名 - npj Parkinson s Disease 2019 被引用: 113
- C9orf72 is differentially expressed in the central nervous system and myeloid cells and consistently reduced in C9orf72, MAPT and GRN mutation carriers
著者: Patrizia Rizzu, Cornelis Blauwendraat, Sasja Heetveld, Emily M. Lynes, Melissa Castillo-Lizardo, Ashutosh Dhingra, Elwira Pyż, Markus A. Hobert, Matthis Synofzik, Javier Simón‐Sánchez, Margherita Francescatto, Peter Heutink - Acta Neuropathologica Communications 2016 被引用: 81
- NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases
著者: Cornelis Blauwendraat, Faraz Faghri, Lasse Pihlstrøm, Joshua T. Geiger, Alexis Elbaz, Suzanne Lesage, Jean‐Christophe Corvol, Patrick May, Aude Nicolas, Yevgeniya Abramzon, Natalie A. Murphy, J. Raphael Gibbs, Mina Ryten, Raffaele Ferrari, José Brás, Rita Guerreiro, Julie Williams, Rebecca Sims, Steven Lubbe, Dena Hernandez, Kin Y. Mok, Laurie Robak, Roy H. Campbell, Ekaterina Rogaeva, Bryan J. Traynor, Ruth Chia, Sun Ju Chung, John Hardy, Alexis Brice, Nicholas Wood, Henry Houlden, Joshua Shulman, Huw R. Morris, Thomas Gasser, Rejko Krüger, Peter Heutink, Manu Sharma, Javier Simón‐Sánchez, Mike A. Nalls, Andrew Singleton, Sonja W. Scholz - Neurobiology of Aging 2017 被引用: 158
- A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer’s disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity
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- Using genome-wide complex trait analysis to quantify 'missing heritability' in Parkinson's disease
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- A Genome-Wide Association Study Identifies Protein Quantitative Trait Loci (pQTLs)
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- Unbiased screen for interactors of leucine-rich repeat kinase 2 supports a common pathway for sporadic and familial Parkinson disease
著者: Alexandria Beilina, Iakov N. Rudenko, Alice Kaganovich, Laura Civiero, Hien Chau, Suneil K. Kalia, Lorraine V. Kalia, Evy Lobbestael, Ruth Chia, Kelechi Ndukwe, Jinhui Ding, Mike A. Nalls, Maciej B. Olszewski, David N. Hauser, Ravindran Kumaran, Andrés M. Lozano, Veerle Baekelandt, Lois E. Greene, Jean‐Marc Taymans, Elisa Greggio, Mark Cookson, Mike A. Nalls, Vincent Plagnol, María Martínez, 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‐Shlomo, 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, Gavin Charlesworth, Honglei Chen, 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, Jianjun Gao, Michelle Gardner, J. Raphael Gibbs, Alison Goate, Emma Gray, Rita Guerreiro, Ómar Gústafsson, Clare Harris, Jacobus J. van Hilten, Albert Hofman, Albert R. Hollenbeck, Janice L. Holton, Michele Hu, Xuemei Huang, Heiko Huber, Gavin Hudson, Sarah Hunt, Johanna Huttenlocher, Thomas Illig, Helmholtz Zentrum München, Pálmi V. Jónsson, Jean‐Charles Lambert, Cordelia Langford, Andrew J. Lees, Peter Lichtner, Helmholtz Zentrum München, Patricia Limousin, Grisel Lopez, Delia Lorenz, Alisdair McNeill, Catriona Moorby, M. Elyse Moore, Huw R. Morris ほか 67 名 - National Academy of Sciences, Proceedings of the National Academy of Sciences 2014 被引用: 367
- DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA
著者: Sarah Camargos, Sonja W. Scholz, Javier Simón‐Sánchez, Coro Paisán‐Ruíz, Patrick A. Lewis, Dena G. Hernandez, Jinhui Ding, J. Raphael Gibbs, Mark Cookson, José Brás, Rita Guerreiro, Catarina R. Oliveira, Andrew J. Lees, John Hardy, Francisco Cardoso, Andrew Singleton - The Lancet Neurology 2008 被引用: 228
- The Genetic Architecture of Parkinson Disease in Spain: Characterizing Population‐Specific Risk, Differential Haplotype Structures, and Providing Etiologic Insight
著者: Sara Bandrés‐Ciga, Sarah Ahmed, Marya S. Sabir, Cornelis Blauwendraat, Astrid Adarmes‐Gómez, Inmaculada Bernal‐Bernal, Marta Bonilla‐Toribio, Dolores Buiza‐Rueda, Fátima Carrillo, Mario Carrión‐Claro, Pilar Gómez‐Garre, Silvia Jesús, Miguel A. Labrador‐Espinosa, Daniel Macías, Carlota Méndez‐del‐Barrio, María Teresa Periñán, Cristina Tejera‐Parrado, Laura Vargas‐González, Mónica Díez-Fairén, Ignacio Álvarez, Juan Pablo Tartari, Maríateresa Buongiorno, Miquel Aguilar, Ana Gorostidi, J Bergareche, Elisabet Mondragón, Ana Vinagre‐Aragón, Ioana Croitoru, Javier Ruiz‐Martínez, Oriol Dols‐Icardo, Jaime Kulisevsky, Juan Marín‐Lahoz, Javier Pagonabarraga, Berta Pascual‐Sedano, Mario Ezquerra, Anna Maria Novella Càmara, Yaroslau Compta, Manel Fernández, Rubén Fernández‐Santiago, Esteban Muñoz, Eduard Tolosa, Francesc Valldeoriola, Isabel González Aramburu, A Rodríguez, María Sierra, Manuel Menéndez‐González, Marta Blázquez Estrada, Ciara García, Esther Suarez‐San Martin, Pedro Ruiz, Juan Carlos Martínez‐Castrillo, Lydia Vela, Clara Ruz, Francisco Javier Barrero, Francisco Escamilla‐Sevilla, Adolfo Mínguez‐Castellanos, Debora Cerdan, César Tabernero, María José Gómez Heredia, Francisco Pérez Errazquin, Manolo Romero‐Acebal, Cici Feliz, José Luis López-Sendón, Marina Mata, Irene Martínez‐Torres, Jonggeol Jeffrey Kim, Clifton L. Dalgard, Janet Brooks, Sara Sáez-Atiénzar, J. Raphael Gibbs, Rafael Jorda, Juan A. Botía, Luis Bonet‐Ponce, Karen Morrison, Carl E Clarke, Manuela Tan, Huw R. Morris, Connor Edsall, Dena Hernández, Javier Simón‐Sánchez, Mike A. Nalls, Sonja W. Scholz, Adriano Jiménez‐Escrig, J. Duarte, Francisco Vives, Raquel Durán, Janet Hoenicka, Victoria Álvarez, Jon Infante, Marı́a José Martı́, Jordi Clarimón, Adolfo López de Munain, Pau Pástor, Pablo Mir, Andrew Singleton - Movement Disorders 2019 被引用: 71
- Biallelic variants in TSPOAP1, encoding the active-zone protein RIMBP1, cause autosomal recessive dystonia
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- Assessment of the impact of a personalised nutrition intervention in impaired glucose regulation over 26 weeks: a randomised controlled trial
著者: Maria Karvela, Caroline T. Golden, Nikeysha Bell, Stephanie Martin-Li, Judith Bedzo-Nutakor, Natalie Bosnic, Pierre De Beaudrap, Sara de Mateo, Ahmed Alajrami, Yun Qin, M.S.C. Eze, Tsz-Kin Hon, Javier Simón‐Sánchez, Rashmita Sahoo, Jonathan Pearson‐Stuttard, Patrick Soon‐Shiong, C. Toumazou, Nick Oliver - Scientific Reports 2024 被引用: 19
- Deletion at ITPR1 Underlies Ataxia in Mice and Spinocerebellar Ataxia 15 in Humans
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