Zobrazeno 1 - 10
of 55
pro vyhledávání: '"Peter Heutink"'
Autor:
Barbier, Mathieu, Camuzat, Agnès, Hachimi, Khalid El, Guegan, Justine, Rinaldi, Daisy, Lattante, Serena, Houot, Marion, Sánchez-Valle, Raquel, Sabatelli, Mario, Antonell, Anna, Molina-Porcel, Laura, Clot, Fabienne, Couratier, Philippe, van der Ende, Emma, van der Zee, Julie, Manzoni, Claudia, Camu, William, Cazeneuve, Cécile, Sellal, François, Didic, Mira, Golfier, Véronique, Pasquier, Florence, Duyckaerts, Charles, Rossi, Giacomina, Bruni, Amalia C, Alvarez, Victoria, Gómez-Tortosa, Estrella, de Mendonça, Alexandre, Graff, Caroline, Masellis, Mario, Nacmias, Benedetta, Oumoussa, Badreddine Mohand, Jornea, Ludmila, Forlani, Sylvie, Van Deerlin, Viviana, Rohrer, Jonathan D, Gelpi, Ellen, Rademakers, Rosa, Van Swieten, John, Le Guern, Eric, Van Broeckhoven, Christine, Ferrari, Raffaele, Génin, Emmanuelle, Brice, Alexis, Ber, Le, Isabelle Alexis Brice, Sophie, Auriacombe, Serge, Belliard, Anne, Bertrand, Anne, Bissery, Fre ́ de, ́ ric Blanc, Marie-Paule, Boncoeur, Ste, ́ phanie Bombois, Claire Boutoleau-Bretonnie` re, Agne`, s Camuzat, Mathieu, Ceccaldi, Marie, Chupin, Philippe, Couratier, Olivier, Colliot, Vincent, Deramecourt, Mira, Didic, Bruno, Dubois, Charles, Duyckaerts, Fre ́ de, ́ rique Etcharry-Bouyx, Aure, ́ lie Guignebert-Funkiewiez, Maı ̈te, ́ Formaglio, ́ ronique Golfier, Ve, Marie-Odile, Habert, Didier, Hannequin, Lucette, Lacomblez, Julien, Lagarde, ́ raldine Lautrette, Ge, Isabelle Le Ber, Benjamin Le Toullec, Richard, Levy, Marie-Anne, Mackowiak, Bernard-Franc ̧ois Michel, Florence, Pasquier, Thibaud, Lebouvier, Carole Roue, ́ -Jagot, Christel Thauvin- Robinet, Catherine, Thomas-Anterion, Je ́ re, ́ mie Pariente, Franc ̧ois Salachas, Sabrina, Sayah, Franc ̧ois Sellal, Assi-Herve, ́ Oya, Daisy, Rinaldi, Adeline, Rollin-Sillaire, Martine, Vercelletto, David, Wallon, Armelle, Rametti-Lacroux, Raffaele, Ferrari, Hernandez, Dena G., Nalls, Michael A., Rohrer, Jonathan D., Adaikalavan, Ramasamy, Kwok, John B. J., Carol Dobson- Stone, Brooks, William S., Schofield, Peter R., Halliday, Glenda M., Hodges, John R., Olivier, Piguet, Lauren, Bartley, Elizabeth, Thompson, Isabel Herna, ́ ndez, Agustı ́n Ruiz, Merce`, Boada, Barbara, Borroni, Alessandro, Padovani, Carlos, Cruchaga, Cairns, Nigel J., Luisa, Benussi, Giuliano, Binetti, Roberta, Ghidoni, Gianluigi, Forloni, Diego, Albani, Daniela, Galimberti, Chiara, Fenoglio, Maria, Serpente, Elio, Scarpini, ́ n, Jordi Clarimo, Alberto Lleo, ́, Rafael, Blesa, Maria Landqvist Waldo, ̈, Karin, Nilsson, Christer, Nilsson, Mackenzie, Ian R. A., Hsiung, Ging-Yuek R., Mann, David M. A., Jordan, Grafman, Morris, Christopher M., Johannes, Attems, Griffiths, Timothy D., Mckeith, Ian G., Thomas, Alan J., Pietro, Pietrini, Edward, Uey, Wassermann, Eric M., Atik, Baborie, Evelyn, Jaros, Tierney, Michael C., Pau, Pastor, Cristina, Razquin, Sara, Ortega-Cubero, Elena, Alonso, Robert, Perneczky, Janine, Diehl-Schmid, Panagiotis, Alexopoulos, Alexander, Kurz, Rainero, Innocenzo, Rubino, Elisa, Pinessi, Lorenzo, Ekaterina, Rogaeva, Peter St George-Hyslop, Giacomina, Rossi, Fabrizio, Tagliavini, Giorgio, Giaccone, Rowe, James B., Schlachetzki, Johannes C. M., James, Uphill, John, Collinge, Simon, Mead, Adrian, Danek, Van Deerlin, Vivianna M., Murray, Grossman, Trojanowski, John Q., Julie van der Zee, Christine Van Broeckhoven, Cappa, Stefano F., Isabelle, Leber, Alexis, Brice, Benedetta, Nacmias, Sandro, Sorbi, Silvia, Bagnoli, Irene, Piaceri, Nielsen, Jørgen E., Hjermind, Lena E., Matthias, Riemenschneider, Manuel, Mayhaus, Bernd, Ibach, Gilles, Gasparoni, Sabrina, Pichler, Wei, Gu, Rossor, Martin N., Fox, Nick C., Warren, Jason D., Maria Grazia Spillantini, Morris, Huw R., Patrizia, Rizzu, Peter, Heutink, Snowden, Julie S., Sara, Rollinson, Anna, Richardson, Alexander, Gerhard, Bruni, Amalia C., Raffaele, Maletta, Francesca, Frangipane, Chiara, Cupidi, Livia, Bernardi, Maria, Anfossi, Maura, Gallo, Maria Elena Conidi, Nicoletta, Smirne, Rosa, Rademakers, Matt, Baker, Dickson, Dennis W., Graff-Radford, Neill R., Petersen, Ronald C., David, Knopman, Josephs, Keith A., Boeve, Bradley F., Parisi, Joseph E., Seeley, William W., Miller, Bruce L., Karydas, Anna M., Howard, Rosen, van Swieten, John C., Dopper, Elise G. P., Harro, Seelaar, Pijnenburg, Yolande A. L., Philip, Scheltens, Giancarlo, Logroscino, Rosa, Capozzo, Valeria, Novelli, Puca, Annibale A., Massimo, Franceschi, Alfredo, Postiglione, Graziella, Milan, Paolo, Sorrentino, Mark, Kristiansen, Huei-Hsin, Chiang, Caroline, Graff, Adeline, Rollin, Dimitrios, Kapogiannis, Luigi, Ferrucci, Stuart, Pickering-Brown, Singleton, Andrew B., John, Hardy, Parastoo, Momeni.
Publikováno v:
Brain, 144(9), 2798-2811. Oxford University Press
Brain-A Journal of Neurology
Brain-A Journal of Neurology, 2021, 144 (9), pp.2798-2811. ⟨10.1093/brain/awab171⟩
The French clinical and genetic Research network on FTLD/FTLD-ALS and PREVDEMALS, The International Frontotemporal Dementia Genomics Consortium, The European Early Onset Dementia (EU-EOD) Consortium, Brainbank Neuro-CEB Neuropathology Network & Neurological Tissue Bank of the Biobank Hospital Clinic-IDIBAPS 2021, ' SLITRK2, an X-linked modifier of the age at onset in C9orf72 frontotemporal lobar degeneration ', Brain, vol. 144, no. 9, pp. 2798-2811 . https://doi.org/10.1093/brain/awab171
Brain
Brain-A Journal of Neurology
Brain-A Journal of Neurology, 2021, 144 (9), pp.2798-2811. ⟨10.1093/brain/awab171⟩
The French clinical and genetic Research network on FTLD/FTLD-ALS and PREVDEMALS, The International Frontotemporal Dementia Genomics Consortium, The European Early Onset Dementia (EU-EOD) Consortium, Brainbank Neuro-CEB Neuropathology Network & Neurological Tissue Bank of the Biobank Hospital Clinic-IDIBAPS 2021, ' SLITRK2, an X-linked modifier of the age at onset in C9orf72 frontotemporal lobar degeneration ', Brain, vol. 144, no. 9, pp. 2798-2811 . https://doi.org/10.1093/brain/awab171
Brain
The G4C2-repeat expansion in C9orf72 is the most common cause of frontotemporal dementia and of amyotrophic lateral sclerosis. The variability of age at onset and phenotypic presentations is a hallmark of C9orf72 disease. In this study, we aimed to i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4744d719a32eac2edd4923af735fe737
https://pure.eur.nl/en/publications/21c24665-a8af-4872-8e79-a75f35655fc1
https://pure.eur.nl/en/publications/21c24665-a8af-4872-8e79-a75f35655fc1
Autor:
Lisa M. Shulman, Hirotaka Iwaki, David A. Hinds, Jacob Gratten, Huw R. Morris, Joseph Jankovic, Costanza L. Vallerga, J. Raphael Gibbs, John Hardy, Javier Simón-Sánchez, Johan Marinus, Thomas Gasser, Peter Heutink, Alexis Brice, Andrew B. Singleton, Dena G. Hernandez, Jean-Christophe Corvol, Karl Heilbron, Donald G. Grosset, Manu Sharma, Ari Siitonen, Peter M. Visscher, Sonja W. Scholz, Pentti J. Tienari, Lynne Krohn, Mathias Toft, Manuela Tan, Johanna Eerola-Rautio, Mike A. Nalls, Jacobus J. van Hilten, Lasse Pihlstrøm, Claudia Schulte, Ziv Gan-Or, Sara Bandres-Ciga, Cornelis Blauwendraat, Hampton L. Leonard, Alastair J. Noyce, Kari Majamaa, Rainer von Coelln, N Wood, Joshua M. Shulman, Suzanne Lesage
Publikováno v:
Movement disorders 34(6), 866-875 (2019). doi:10.1002/mds.27659
Mov Disord
Movement Disorders, 34(6), 866-875
Mov Disord
Movement Disorders, 34(6), 866-875
Background Increasing evidence supports an extensive and complex genetic contribution to PD. Previous genome-wide association studies (GWAS) have shed light on the genetic basis of risk for this disease. However, the genetic determinants of PD age at
Autor:
Ole A. Andreassen, Vivianna M. Van Deerlin, David Simon, Claire E. Wegel, Guido Alves, Ruwani Wijeyekoon, Jodi Maple-Grødem, Alastair J. Noyce, Roger A. Barker, Bart P.C. van de Warrenburg, Peter Heutink, Shirley Eberly, J. Raphael Gibbs, Alexis Brice, Kumaraswamy Naidu Chitrala, Lasse Pihlstrøm, Marlies van Nimwegen, Khanh-Dung H. Nguyen, Ganqiang Liu, Bernard Ravina, Clemens R. Scherzer, Jean-Christophe Corvol, Bastiaan R. Bloem, Jacobus J. van Hilten, Karol Estrada, Faraz Faghri, Jonathan R. Evans, Daniel Weintraub, Ole-Bjørn Tysnes, Aaron G. Day-Williams, Hampton L. Leonard, Jonggeol J. Kim, Fabrice Danjou, David P. Breen, Samantha J. Hutten, Andrew B. Singleton, Hirotaka Iwaki, Peggy Auinger, Mike A. Nalls, Kirsten M. Scott, Dena G. Hernandez, Mathias Toft, Jacqueline Rick, Caroline H. Williams-Gray, Cornelis Blauwendraat
Publikováno v:
2019, ' Genomewide association study of Parkinson's disease clinical biomarkers in 12 longitudinal patients' cohorts ', Movement Disorders, vol. 34, no. 12 . https://doi.org/10.1002/mds.27845
Movement Disorders, 34, 1839-1850
Movement disorders 34(12), 1839-1850 (2019). doi:10.1002/mds.27845
Mov Disord
Movement Disorders
Movement Disorders, 34, 12, pp. 1839-1850
Movement Disorders, 34, 1839-1850
Movement disorders 34(12), 1839-1850 (2019). doi:10.1002/mds.27845
Mov Disord
Movement Disorders
Movement Disorders, 34, 12, pp. 1839-1850
Item does not contain fulltext BACKGROUND: Several reports have identified different patterns of Parkinson's disease progression in individuals carrying missense variants in GBA or LRRK2 genes. The overall contribution of genetic factors to the sever
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d75d743e4735219496720da03a92501
https://www.pure.ed.ac.uk/ws/files/112990604/Breen_GWAS_MovtDisorders.pdf
https://www.pure.ed.ac.uk/ws/files/112990604/Breen_GWAS_MovtDisorders.pdf
Autor:
Nigel J. Cairns, Merel O. Mol, Gregory D. Jenkins, Leonard Petrucelli, Nilufer Ertekin-Taner, Stuart Pickering-Brown, Carlos Cruchaga, Edward B. Lee, Jonathan D. Glass, John C. van Swieten, Jonathan D. Rohrer, Keith A. Josephs, Patrizia Rizzu, Johannes Prudlo, Edward D. Huey, Cristina T. Vicente, Shulan Tian, Claire Troakes, Ging-Yuek Robin Hsiung, Julie S. Snowden, Lawrence S. Honig, Jean Paul G. Vonsattel, Yan W. Asmann, Matthis Synofzik, Sigrun Roeber, Jeroen van Rooij, Ralph B. Perkerson, Eric M. Reiman, Charles L. White, Ethan G. Geier, Billie J. Matchett, Robert A. Rissman, Julia Keith, David J. Irwin, Manuela Neumann, Dieter Edbauer, M.-Marsel Mesulam, Jochen Herms, Vivianna M. Van Deerlin, Jordan Grafman, Melissa E. Murray, Oscar L. Lopez, Bernardino Ghetti, Rosa Rademakers, Bradley F. Boeve, Ekaterina Rogaeva, Sara Rollinson, Marla Gearing, Geoffrey L. Ahern, Zachary C. Fogarty, Peter Heutink, Yingxue Ren, Javier Simón-Sánchez, David G. Mann, Bryan K. Woodruff, Ryan J. Uitti, Martin R. Farlow, Lea T. Grinberg, Murray Grossman, Julia Kofler, Ian R. A. Mackenzie, Jennifer S. Yokoyama, Lorne Zinman, Matt Baker, John Q. Trojanowski, Zbigniew K. Wszolek, Cyril Pottier, Changiz Geula, Thomas Arzberger, Dennis W. Dickson, Joanna M. Biernacka, William W. Seeley, Caroline Graff, Olivier Piguet, John B.J. Kwok, Joseph E. Parisi, Safa Al-Sarraj, Harro Seelaar, Elizabeth Christopher, Ronald C. Petersen, Linn Öijerstedt, Anna Karydas, Salvatore Spina, Carlo Wilke, Marka van Blitterswijk, Simon Mead, Janine Diehl-Schmid, Bret M. Evers, David S. Knopman, Kevin F. Bieniek, John R. Hodges, Anthony Batzler, Mariely DeJesus-Hernandez, Elizabeth Finger, Thomas G. Beach, EunRan Suh, Maria Carmela Tartaglia, Sandra Weintraub, Shannon K. McDonnell, Bruce L. Miller, Glenda M. Halliday, Andy King, Eileen H. Bigio, Neill R. Graff-Radford, Richard J. Caselli
Publikováno v:
Acta Neuropathologica, 137(6), 879-899. Springer-Verlag
Acta Neuropathol
Acta neuropathologica 137(6), 879-899 (2019). doi:10.1007/s00401-019-01962-9
Acta neuropathologica
Acta Neuropathol
Acta neuropathologica 137(6), 879-899 (2019). doi:10.1007/s00401-019-01962-9
Acta neuropathologica
Frontotemporal lobar degeneration with neuronal inclusions of the TAR DNA-binding protein 43 (FTLD-TDP) represents the most common pathological subtype of FTLD. We established the international FTLD-TDP whole-genome sequencing consortium to thoroughl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1500c504ddc41a67b8cb5e111941d5d5
https://pure.eur.nl/en/publications/ec4efc7a-1a6b-4346-af9a-7b821d069c4d
https://pure.eur.nl/en/publications/ec4efc7a-1a6b-4346-af9a-7b821d069c4d
Autor:
Jiang, Shan, Wen, Natalie, Zeran, Li, Dube, Umber, Del Aguila, Jorge, Budde, John, Martinez, Rita, Hsu, Simon, Fernandez, Maria V, Cairns, Nigel J, Harari, Oscar, Cruchaga, Carlos, Karch, Celeste MRaffaele Ferrari, Dena, G Hernandez, Michael, A Nalls, Jonathan, D Rohrer, Adaikalavan, Ramasamy, John B, J Kwok, Carol, Dobson-Stone, William, S Brooks, Peter, R Schofield, Glenda, M Halliday, John, R Hodges, Olivier, Piguet, Lauren, Bartley, Elizabeth, Thompson, Eric, Haan, Isabel, Hernández, Agustín, Ruiz, Mercè, Boada, Barbara, Borroni, Alessandro, Padovani, Carlos, Cruchaga, Nigel, J Cairns, Luisa, Benussi, Giuliano, Binetti, Roberta, Ghidoni, Gianluigi, Forloni, Daniela, Galimberti, Chiara, Fenoglio, Maria, Serpente, Elio, Scarpini, Jordi, Clarimón, Alberto, Lleó, Rafael, Blesa, Maria Landqvist Waldö, Karin, Nilsson, Christer, Nilsson, Ian R, A Mackenzie, Ging-Yuek, R Hsiung, David M, A Mann, Jordan, Grafman, Christopher, M Morris, Johannes, Attems, Timothy, D Griffiths, Ian, G McKeith, Alan, J Thomas, Pietrini, P, Edward, D Huey, Eric, M Wassermann, Atik, Baborie, Evelyn, Jaros, Michael, C Tierney, Pau, Pastor, Cristina, Razquin, Sara, Ortega-Cubero, Elena, Alonso, Robert, Perneczky, Janine, Diehl-Schmid, Panagiotis, Alexopoulos, Alexander, Kurz, Rainero, Innocenzo, Rubino, Elisa, Lorenzo, Pinessi, Ekaterina, Rogaeva, Peter St George-Hyslop, Giacomina, Rossi, Fabrizio, Tagliavini, Giorgio, Giaccone, James, B Rowe, Johannes C, M Schlachetzki, James, Uphill, John, Collinge, Simon, Mead, Adrian, Danek, Vivianna, M Van Deerlin, Murray, Grossman, John, Q Trojanowski, Julie van der Zee, William, Deschamps, Tim Van Langenhove, Marc, Cruts, Christine Van Broeckhoven, Stefano, F Cappa, Isabelle Le Ber, Didier, Hannequin, Véronique, Golfier, Martine, Vercelletto, Alexis, Brice, Benedetta, Nacmias, Sandro, Sorbi, Silvia, Bagnoli, Irene, Piaceri, Jørgen, E Nielsen, Lena, E Hjermind, Matthias, Riemenschneider, Manuel, Mayhaus, Bernd, Ibach, Gilles, Gasparoni, Sabrina, Pichler, Wei, Gu, Martin, N Rossor, Nick, C Fox, Jason, D Warren, Maria Grazia Spillantini, Huw, R Morris, Patrizia, Rizzu, Peter, Heutink, Julie, S Snowden, Sara, Rollinson, Anna, Richardson, Alexander, Gerhard, Amalia, C Bruni, Raffaele, Maletta, Francesca, Frangipane, Chiara, Cupidi, Livia, Bernardi, Maria, Anfossi, Maura, Gallo, Maria Elena Conidi, Nicoletta, Smirne, Rosa, Rademakers, Matt, Baker, Dennis, W Dickson, Neill, R Graff-Radford, Ronald, C Petersen, David, Knopman, Keith, A Josephs, Bradley, F Boeve, Joseph, E Parisi, William, W Seeley, Bruce, L Miller, Anna, M Karydas, Howard, Rosen, John, C van Swieten, Elise G, P Dopper, Harro, Seelaar, Yolande A, L Pijnenburg, Philip, Scheltens, Giancarlo, Logroscino, Rosa, Capozzo, Valeria, Novelli, Annibale, A Puca, Massimo, Franceschi, Alfredo, Postiglione, Graziella, Milan, Paolo, Sorrentino, Mark, Kristiansen, Huei-Hsin, Chiang, Caroline, Graff, Florence, Pasquier, Adeline, Rollin, Vincent, Deramecourt, Florence, Lebert, Dimitrios, Kapogiannis, Luigi, Ferrucci, Stuart, Pickering-Brown, Andrew, B Singleton, John, Hardy, Parastoo, Momeni
Publikováno v:
Translational Psychiatry
Translational Psychiatry, Vol 8, Iss 1, Pp 1-16 (2018)
Translational Psychiatry, Vol 8, Iss 1, Pp 1-16 (2018)
Mutations in the microtubule-associated protein tau (MAPT) gene cause autosomal dominant frontotemporal lobar degeneration with tau inclusions (FTLD-tau). MAPT p.R406W carriers present clinically with progressive memory loss and neuropathologically w
Autor:
David J. Irwin, Nilufer Ertekin-Taner, Sara Rollinson, Mads Kjolby, John Hardy, Julia Kofler, Robert A. Rissman, Bernardino Ghetti, Stuart Pickering-Brown, Jonathan Glass, Carlos Cruchaga, Jonathan D. Rohrer, Keith A. Josephs, Maura Gallo, Parastoo Momeni, Emilia J. Sitek, Matthis Synofzik, Sandro Sorbi, Carlo Wilke, Oscar L. Lopez, Nigel J. Cairns, Miren Zulaica, Peter Heutink, Leonard Petrucelli, Bret M. Evers, Luisa Benussi, Jeroen van Rooij, Olivier Piguet, Sandra E. Black, Bradley F. Boeve, Cyril Pottier, Eric M. Reiman, Melissa E. Murray, Ralph B. Perkerson, Daniela Galimberti, Thomas G. Beach, Giorgio G. Fumagalli, Giacomina Rossi, David M. A. Mann, John B.J. Kwok, Harro Seelaar, Edward B. Lee, Jean-Paul Vonsattel, Didier Hannequin, Rosa Rademakers, John R. Hodges, Nicole A. Finch, John Q. Trojanowski, David S. Knopman, Yingxue Ren, Albert Lladó, Anders Nykjaer, Claire Troakes, Linn Öijerstedt, EunRan Suh, Isabelle Le Ber, Juliane Winkelmann, Ian R. Mackenzie, Glenda M. Halliday, William W. Seeley, Salvatore Spina, Simon Mead, Elio Scarpini, Fabrizio Tagliavini, Bruce L. Miller, Mariely DeJesus-Hernandez, Dennis W. Dickson, Elizabeth Christopher, Mario Masellis, Florence Pasquier, Roberta Ghidoni, Janine Diehl-Schmid, Silvia Bagnoli, Barbara Borroni, Adam L. Boxer, Adrian L. Oblak, Elizabeth Finger, Carol F. Lippa, Giuliano Binetti, Eileen H. Bigio, Vivianna M. Van Deerlin, Anna Karydas, William S. Brooks, Julie S. Snowden, Anna Richardson, Lea T. Grinberg, Manuela Neumann, Jordan Grafman, Zbigniew K. Wszolek, Edward D. Huey, Caroline Graff, John C. van Swieten, Sandra Weintraub, Raffaele Maletta, Ekaterina Rogaeva, Fermin Moreno, Raffaele Ferrari, Charles L. White, Adolfo López de Munain, Neill R. Graff-Radford, Camilla Ferrari, Jill R. Murell, Marwan N. Sabbagh, Raquel Sánchez-Valle, Marka van Blitterswijk, Alessandro Padovani, Peter Johannsen, Daniel J. Serie, Francesca Frangipane, Safa Al-Sarraj, Anna Antonell, Kevin F. Bieniek, Tsz H. Wong, Ging-Yuek Robin Hsiung, Jarosław Sławek, Matthew B. Baker, Gregory D. Jenkins, Ronald C. Petersen, Murray Grossman, Benedetta Nacmias, Tammee M. Parsons, Lawrence S. Honig, Maria Anfossi, Richard J. Caselli, Changiz Geula, Marla Gearing, M.-Marsel Mesulam, Xiaolai Zhou, Joanna M. Biernacka, Joseph E. Parisi, Irene Piaceri, Jorgen E. Nielsen, Amalia C. Bruni
Publikováno v:
The lancet neurology
The Lancet Neurology, 17(6), 548-558. Lancet Publishing Group
The lancet / Neurology 17(6), 548-558 (2018). doi:10.1016/S1474-4422(18)30126-1
Pottier, C, Zhou, X, Perkerson, R B, Baker, M, Jenkins, G D, Serie, D J, Ghidoni, R, Benussi, L, Binetti, G, López de Munain, A, Zulaica, M, Moreno, F, Le Ber, I, Pasquier, F, Hannequin, D, Sánchez-Valle, R, Antonell, A, Lladó, A, Parsons, T M, Finch, N C A, Finger, E C, Lippa, C F, Huey, E D, Neumann, M, Heutink, P, Synofzik, M, Wilke, C, Rissman, R A, Slawek, J, Sitek, E, Johannsen, P, Nielsen, J E, Ren, Y, van Blitterswijk, M, DeJesus-Hernandez, M, Christopher, E, Murray, M E, Bieniek, K F, Evers, B M, Ferrari, C, Rollinson, S, Richardson, A, Scarpini, E, Fumagalli, G G, Padovani, A, Hardy, J, Momeni, P, Ferrari, R, Frangipane, F, Maletta, R, Anfossi, M, Gallo, M, Petrucelli, L, Suh, E R, Lopez, O L, Wong, T H, van Rooij, J G J, Seelaar, H, Mead, S, Caselli, R J, Reiman, E M, Noel Sabbagh, M, Kjolby, M, Nykjaer, A, Karydas, A M, Boxer, A L, Grinberg, L T, Grafman, J, Spina, S, Oblak, A, Mesulam, M M, Weintraub, S, Geula, C, Hodges, J R, Piguet, O, Brooks, W S, Irwin, D J, Trojanowski, J Q, Lee, E B, Josephs, K A, Parisi, J E, Ertekin-Taner, N, Knopman, D S, Nacmias, B, Piaceri, I, Bagnoli, S, Sorbi, S, Gearing, M, Glass, J, Beach, T G, Black, S E, Masellis, M, Rogaeva, E, Vonsattel, J P, Honig, L S, Kofler, J, Bruni, A C, Snowden, J, Mann, D, Pickering-Brown, S, Diehl-Schmid, J, Winkelmann, J, Galimberti, D, Graff, C, Öijerstedt, L, Troakes, C, Al-Sarraj, S, Cruchaga, C, Cairns, N J, Rohrer, J D, Halliday, G M, Kwok, J B, van Swieten, J C, White, C L, Ghetti, B, Murell, J R, Mackenzie, I R A, Hsiung, G Y R, Borroni, B, Rossi, G, Tagliavini, F, Wszolek, Z K, Petersen, R C, Bigio, E H, Grossman, M, Van Deerlin, V M, Seeley, W W, Miller, B L, Graff-Radford, N R, Boeve, B F, Dickson, D W, Biernacka, J M & Rademakers, R 2018, ' Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations : a genome-wide association study ', The Lancet Neurology, vol. 17, no. 6, pp. 548-558 . https://doi.org/10.1016/S1474-4422(18)30126-1
Lancet Neurology, 17(6), 548-558. Lancet Publishing Group
Pottier, C, Zhou, X, Perkerson, R B, Baker, M, Jenkins, G D, Serie, D J, Ghidoni, R, Benussi, L, Binetti, G, López de Munain, A, Zulaica, M, Moreno, F, le Ber, I, Pasquier, F, Hannequin, D, Sánchez-Valle, R, Antonell, A, Lladó, A, Parsons, T M, Finch, N A, Finger, E C, Lippa, C F, Huey, E D, Neumann, M, Heutink, P, Synofzik, M, Wilke, C, Rissman, R A, Slawek, J, Sitek, E, Johannsen, P, Nielsen, J R E, Ren, Y, van Blitterswijk, M, DeJesus-Hernandez, M, Christopher, E, Murray, M E, Bieniek, K F, Evers, B M, Ferrari, C, Rollinson, S, Richardson, A, Scarpini, E, Fumagalli, G G, Padovani, A, Hardy, J, Momeni, P, Ferrari, R, Frangipane, F, Maletta, R, Anfossi, M, Gallo, M, Petrucelli, L, Suh, E, Lopez, O L, Wong, T H, van Rooij, J G J, Seelaar, H, Mead, S, Caselli, R J, Reiman, E M, Noel Sabbagh, M, Kjolby, M, Nykjaer, A, Karydas, A M, Boxer, A L, Grinberg, L T, Grafman, J, Spina, S, Oblak, A, Mesulam, M M, Weintraub, S, Geula, C, Hodges, J R, Piguet, O, Brooks, W S, Irwin, D J, Trojanowski, J Q, Lee, E B, Josephs, K A, Parisi, J E, Ertekin-Taner, N, Knopman, D S, Nacmias, B, Piaceri, I, Bagnoli, S, Sorbi, S, Gearing, M, Glass, J, Beach, T G, Black, S E, Masellis, M, Rogaeva, E, Vonsattel, J-P, Honig, L S, Kofler, J, Bruni, A C, Snowden, J, Mann, D, Pickering-Brown, S, Diehl-Schmid, J, Winkelmann, J, Galimberti, D, Graff, C, Öijerstedt, L, Troakes, C, Al-Sarraj, S, Cruchaga, C, Cairns, N J, Rohrer, J D, Halliday, G M, Kwok, J B, van Swieten, J C, White, C L, Ghetti, B, Murell, J R, Mackenzie, I R A, Hsiung, G-Y R, Borroni, B, Rossi, G, Tagliavini, F, Wszolek, Z K, Petersen, R C, Bigio, E H, Grossman, M, van Deerlin, V M, Seeley, W W, Miller, B L, Graff-Radford, N R, Boeve, B F, Dickson, D W, Biernacka, J M & Rademakers, R 2018, ' Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study ', The Lancet Neurology, vol. 17, no. 6, pp. 548-558 . https://doi.org/10.1016/S1474-4422(18)30126-1
The Lancet Neurology, 17(6), 548-558. Lancet Publishing Group
The lancet
Pottier, C, Zhou, X, Perkerson, R B, Baker, M, Jenkins, G D, Serie, D J, Ghidoni, R, Benussi, L, Binetti, G, López de Munain, A, Zulaica, M, Moreno, F, Le Ber, I, Pasquier, F, Hannequin, D, Sánchez-Valle, R, Antonell, A, Lladó, A, Parsons, T M, Finch, N C A, Finger, E C, Lippa, C F, Huey, E D, Neumann, M, Heutink, P, Synofzik, M, Wilke, C, Rissman, R A, Slawek, J, Sitek, E, Johannsen, P, Nielsen, J E, Ren, Y, van Blitterswijk, M, DeJesus-Hernandez, M, Christopher, E, Murray, M E, Bieniek, K F, Evers, B M, Ferrari, C, Rollinson, S, Richardson, A, Scarpini, E, Fumagalli, G G, Padovani, A, Hardy, J, Momeni, P, Ferrari, R, Frangipane, F, Maletta, R, Anfossi, M, Gallo, M, Petrucelli, L, Suh, E R, Lopez, O L, Wong, T H, van Rooij, J G J, Seelaar, H, Mead, S, Caselli, R J, Reiman, E M, Noel Sabbagh, M, Kjolby, M, Nykjaer, A, Karydas, A M, Boxer, A L, Grinberg, L T, Grafman, J, Spina, S, Oblak, A, Mesulam, M M, Weintraub, S, Geula, C, Hodges, J R, Piguet, O, Brooks, W S, Irwin, D J, Trojanowski, J Q, Lee, E B, Josephs, K A, Parisi, J E, Ertekin-Taner, N, Knopman, D S, Nacmias, B, Piaceri, I, Bagnoli, S, Sorbi, S, Gearing, M, Glass, J, Beach, T G, Black, S E, Masellis, M, Rogaeva, E, Vonsattel, J P, Honig, L S, Kofler, J, Bruni, A C, Snowden, J, Mann, D, Pickering-Brown, S, Diehl-Schmid, J, Winkelmann, J, Galimberti, D, Graff, C, Öijerstedt, L, Troakes, C, Al-Sarraj, S, Cruchaga, C, Cairns, N J, Rohrer, J D, Halliday, G M, Kwok, J B, van Swieten, J C, White, C L, Ghetti, B, Murell, J R, Mackenzie, I R A, Hsiung, G Y R, Borroni, B, Rossi, G, Tagliavini, F, Wszolek, Z K, Petersen, R C, Bigio, E H, Grossman, M, Van Deerlin, V M, Seeley, W W, Miller, B L, Graff-Radford, N R, Boeve, B F, Dickson, D W, Biernacka, J M & Rademakers, R 2018, ' Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations : a genome-wide association study ', The Lancet Neurology, vol. 17, no. 6, pp. 548-558 . https://doi.org/10.1016/S1474-4422(18)30126-1
Lancet Neurology, 17(6), 548-558. Lancet Publishing Group
Pottier, C, Zhou, X, Perkerson, R B, Baker, M, Jenkins, G D, Serie, D J, Ghidoni, R, Benussi, L, Binetti, G, López de Munain, A, Zulaica, M, Moreno, F, le Ber, I, Pasquier, F, Hannequin, D, Sánchez-Valle, R, Antonell, A, Lladó, A, Parsons, T M, Finch, N A, Finger, E C, Lippa, C F, Huey, E D, Neumann, M, Heutink, P, Synofzik, M, Wilke, C, Rissman, R A, Slawek, J, Sitek, E, Johannsen, P, Nielsen, J R E, Ren, Y, van Blitterswijk, M, DeJesus-Hernandez, M, Christopher, E, Murray, M E, Bieniek, K F, Evers, B M, Ferrari, C, Rollinson, S, Richardson, A, Scarpini, E, Fumagalli, G G, Padovani, A, Hardy, J, Momeni, P, Ferrari, R, Frangipane, F, Maletta, R, Anfossi, M, Gallo, M, Petrucelli, L, Suh, E, Lopez, O L, Wong, T H, van Rooij, J G J, Seelaar, H, Mead, S, Caselli, R J, Reiman, E M, Noel Sabbagh, M, Kjolby, M, Nykjaer, A, Karydas, A M, Boxer, A L, Grinberg, L T, Grafman, J, Spina, S, Oblak, A, Mesulam, M M, Weintraub, S, Geula, C, Hodges, J R, Piguet, O, Brooks, W S, Irwin, D J, Trojanowski, J Q, Lee, E B, Josephs, K A, Parisi, J E, Ertekin-Taner, N, Knopman, D S, Nacmias, B, Piaceri, I, Bagnoli, S, Sorbi, S, Gearing, M, Glass, J, Beach, T G, Black, S E, Masellis, M, Rogaeva, E, Vonsattel, J-P, Honig, L S, Kofler, J, Bruni, A C, Snowden, J, Mann, D, Pickering-Brown, S, Diehl-Schmid, J, Winkelmann, J, Galimberti, D, Graff, C, Öijerstedt, L, Troakes, C, Al-Sarraj, S, Cruchaga, C, Cairns, N J, Rohrer, J D, Halliday, G M, Kwok, J B, van Swieten, J C, White, C L, Ghetti, B, Murell, J R, Mackenzie, I R A, Hsiung, G-Y R, Borroni, B, Rossi, G, Tagliavini, F, Wszolek, Z K, Petersen, R C, Bigio, E H, Grossman, M, van Deerlin, V M, Seeley, W W, Miller, B L, Graff-Radford, N R, Boeve, B F, Dickson, D W, Biernacka, J M & Rademakers, R 2018, ' Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study ', The Lancet Neurology, vol. 17, no. 6, pp. 548-558 . https://doi.org/10.1016/S1474-4422(18)30126-1
Background: Loss-of-function mutations in GRN cause frontotemporal lobar degeneration (FTLD). Patients with GRN mutations present with a uniform subtype of TAR DNA-binding protein 43 (TDP-43) pathology at autopsy (FTLD-TDP type A); however, age at on
Autor:
W.M. van der Flier, Patrizia Rizzu, Yolande A.L. Pijnenburg, Peter Heutink, Philip Scheltens, E. J. Meijers-Heijboer, Tsz Hang Wong, Frank Baas, Guido J. Breedveld, J. C. van Swieten, Petra E. Cohn-Hokke
Publikováno v:
Journal of neurology, 261(11), 2085-2092. D. Steinkopff-Verlag
Cohn-Hokke, P E, Wong, T H, Rizzu, P, Breedveld, G, van der Flier, W M, Scheltens, P, Baas, F, Heutink, P, Meijers-Heijboer, E J, van Swieten, J C & Pijnenburg, Y A L 2014, ' Mutation frequency of PRKAR1B and the major familial dementia genes in a Dutch early onset dementia cohort ', Journal of Neurology, vol. 261, no. 11, pp. 2085-2092 . https://doi.org/10.1007/s00415-014-7456-y
Journal of Neurology, 261(11), 2085-2092. D. Steinkopff-Verlag
Cohn-Hokke, P E, Wong, T H, Rizzu, P, Breedveld, G, van der Flier, W M, Scheltens, P, Baas, F, Heutink, P, Meijers-Heijboer, E J, van Swieten, J C & Pijnenburg, Y A L 2014, ' Mutation frequency of PRKAR1B and the major familial dementia genes in a Dutch early onset dementia cohort ', Journal of Neurology, vol. 261, no. 11, pp. 2085-2092 . https://doi.org/10.1007/s00415-014-7456-y
Journal of Neurology, 261(11), 2085-2092. D. Steinkopff-Verlag
Genetic factors are important in all forms of dementia, especially in early onset dementia. The frequency of major gene defects in dementia has not been investigated in the Netherlands. Furthermore, whether the recently in a FTD family identified PRK
Autor:
Wilma D.J. van de Berg, Hazuki Takahashi, Abdullah M. Khamis, Patrizia Rizzu, Piero Carninci, Luba M. Pardo, Yulia A. Medvedeva, Peter Heutink, Gwenaël G. R. Leday, Carsten O. Daub, Margherita Francescatto, Morana Vitezic, Javier Simon Sanchez, Mark A. van de Wiel
Publikováno v:
Pardo, L M, Rizzu, P, Francescatto, M, Vitezic, M, Leday, G G R, Simon Sanchez, J, Khamis, A, Takahashi, H, van de Berg, W D J, Medvedeva, Y A, van de Wiel, M, Daub, C O, Carninci, P & Heutink, P 2013, ' Regional differences in gene expression and promoter usage in aged human brains ', Neurobiology of Aging, vol. 34, no. 7, pp. 1825-1836 . https://doi.org/10.1016/j.neurobiolaging.2013.01.005
Neurobiology of Aging, 34(7), 1825-1836. Elsevier Inc.
Neurobiology of Aging, 34(7), 1825-1836. Elsevier Inc.
To characterize the promoterome of caudate and putamen regions (striatum), frontal and temporal cortices, and hippocampi from aged human brains, we used high-throughput cap analysis of gene expression to profile the transcription start sites and to q
Autor:
Cornelis Blauwendraat, Javier Simón-Sánchez, Andrew B. Singleton, Peter Heutink, J. Raphael Gibbs, Margherita Francescatto, Mark R. Cookson, Patrizia Rizzu, Allissa Dillman, Iris E. Jansen, Dena G. Hernandez
Publikováno v:
Genome Medicine
Genome medicine 8(1), 65 (2016). doi:10.1186/s13073-016-0320-1
Blauwendraat, C, Francescatto, M, Gibbs, J R, Jansen, I E, Simón-Sánchez, J, Hernandez, D G, Dillman, A A, Singleton, A B, Cookson, M R, Rizzu, P & Heutink, P 2016, ' Comprehensive promoter level expression quantitative trait loci analysis of the human frontal lobe ', Genome Medicine, vol. 8, no. 1, 65 . https://doi.org/10.1186/s13073-016-0320-1
Genome Medicine, 8(1):65. BioMed Central
Genome medicine 8(1), 65 (2016). doi:10.1186/s13073-016-0320-1
Blauwendraat, C, Francescatto, M, Gibbs, J R, Jansen, I E, Simón-Sánchez, J, Hernandez, D G, Dillman, A A, Singleton, A B, Cookson, M R, Rizzu, P & Heutink, P 2016, ' Comprehensive promoter level expression quantitative trait loci analysis of the human frontal lobe ', Genome Medicine, vol. 8, no. 1, 65 . https://doi.org/10.1186/s13073-016-0320-1
Genome Medicine, 8(1):65. BioMed Central
Background Expression quantitative trait loci (eQTL) analysis is a powerful method to detect correlations between gene expression and genomic variants and is widely used to interpret the biological mechanism underlying identified genome wide associat
Autor:
Peter Heutink, Benjamin Bender, Florian Metzger, Thomas Gasser, Matthis Synofzik, Walter Maetzler, Iris E. Jansen, Cornelis Blauwendraat, Patrizia Rizzu, Claudia Schulte, Javier Simón-Sánchez, Carlo Wilke
Publikováno v:
Blauwendraat, C, Wilke, C, Jansen, I E, Schulte, C, Simón-Sánchez, J, Metzger, F G, Bender, B, Gasser, T, Maetzler, W, Rizzu, P, Heutink, P & Synofzik, M 2016, ' Pilot whole-exome sequencing of a German early-onset Alzheimer's disease cohort reveals a substantial frequency of PSEN2 variants ', Neurobiology of Aging, vol. 37, pp. 208.e11-208.e18 . https://doi.org/10.1016/j.neurobiolaging.2015.09.016
Neurobiology of Aging, 37, 208.e11-208.e18. Elsevier Inc.
Neurobiology of aging 37, 208.e11-208.e17 (2016). doi:10.1016/j.neurobiolaging.2015.09.016
Neurobiology of Aging, 37, 208.e11-208.e18. Elsevier Inc.
Neurobiology of aging 37, 208.e11-208.e17 (2016). doi:10.1016/j.neurobiolaging.2015.09.016
Early-onset Alzheimer's disease (EOAD) accounts for 1%-2% of all Alzheimer's disease (AD) subjects, with large variation in the reported genetic contribution of known dementia genes. In this pilot study, we genetically characterized a German EOAD coh
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ebcd0aeb7e7b4f16b9e04dec6b64e8cc
https://research.vumc.nl/en/publications/dee9e68f-01b2-47e0-8933-378e6630880b
https://research.vumc.nl/en/publications/dee9e68f-01b2-47e0-8933-378e6630880b