Zobrazeno 1 - 10
of 130
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:
Clemens R. Scherzer, Ganqiang Liu, Ferenc Müller, David Gritsch, Patrizia Rizzu, Peter T. Nelson, Xianjun Dong, Cornelis Blauwendraat, Boris Guennewig, John S. Mattick, Joseph J. Locascio, Yunfei Bai, Zhixiang Liao, Peter Heutink, Tao Wang, Matthew P. Frosch, Charles H. Adler, Yavor Hadzhiev, Thomas G. Beach, Richard L.M. Faull, John C. Hedreen, Antony A. Cooper
Publikováno v:
Nature neuroscience
Nature reviews / Neuroscience 21(10), 1482-1492 (2018). doi:10.1038/s41593-018-0223-0
Nature reviews / Neuroscience 21(10), 1482-1492 (2018). doi:10.1038/s41593-018-0223-0
Enhancers function as DNA logic gates and may control specialized functions of billions of neurons. Here we show a tailored program of noncoding genome elements active in situ in physiologically distinct dopamine neurons of the human brain. We found
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:
Jean-christophe Corvol, Sebastian Schreglmann, Isabel Gonzalez-Aramburu, María Teresa Periñán, Pau Pastor, Hampton Leonard, Rubén Fernández-Santiago, Javed Fowdar, Juan Carlos Martinez Castrillo, Sonja Scholz, Thomas Gasser, Babak Alipanahi, Adolfo Mínguez-Castellanos, Jose Bras, Irfahan Kassam, Monica Diez-Fairen, Jon Infante, Oriol Dols Icardo, Hirotaka Iwaki, Leanne WALLACE, Juan A. Botía, Rita Guerreiro, Valentina Escott-Price, Kerri J Kinghorn, Peter Heutink, Francisco Escamilla Sevilla, Janet Hoenicka, Alexis Brice, Ignacio Alvarez, Pille Taba
Publikováno v:
J Med Genet
BackgroundClassical randomisation of clinical trial patients creates a source of genetic variance that may be contributing to the high failure rate seen in neurodegenerative disease trials. Our objective was to quantify genetic difference between ran
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:
Ellen Gelpi, Mathieu Vandenbulcke, Yalda Baradaran-Heravi, Alex Michotte, Alexandre de Mendonça, Elisa Bonomi, Peter Paul De Deyn, Peter Heutink, Bruno Bergmans, Matthew J. Fraidakis, Matthis Synofzik, Dirk Peeters, Eva Parobkova, Christine Van Broeckhoven, Patrick Santens, Peter De Jonghe, Radoslav Matej, Maria Rosário Almeida, Rik Vandenberghe, Hung Phuoc Nguyen, Pau Pastor, Alessandro Padovani, Gabriel Miltenberger-Miltenyi, Jan De Bleecker, Philip Van Damme, Sara Van Mossevelde, Isabel Santana, Ricard Rojas-García, Olivier Deryck, Julie van der Zee, Eric Salmon, Ana Verdelho, Christiana Willems, Nina De Klippel, Miquel Aguilar, Lubina Dillen, Alberto Lleó, Sergi Borrego-Écija, Sebastiaan Engelborghs, Sandro Sorbi, Jonathan Baets, Camilla Ferrari, Monica Diez-Fairen, Silvia Bagnoli, Barbara Borroni, Raquel Sánchez-Valle, Johan Goeman, Anne Sieben, Ignacio Illán-Gala, Patrick Cras, Panagiotis Alexopoulos, Janina Turon-Sans, Benedetta Nacmias, Adrian Ivanoiu, Irene Piaceri, Janine Diehl-Schmid, Jan Versijpt, Silvana Archettim, C. Ferreira, Frederico Simões do Couto, Jordi Clarimón, Dirk Nuytten, Javier Simón-Sánchez, Carlo Wilke
Publikováno v:
NEUROBIOLOGY OF AGING
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Neurobiology of aging, Vol. 69, p. 293.e9-293.e11 (2018)
Neurobiology of aging
Neurobiology of aging 69, 293.e9-293.e11 (2018). doi:10.1016/j.neurobiolaging.2018.05.005
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Neurobiology of aging, Vol. 69, p. 293.e9-293.e11 (2018)
Neurobiology of aging
Neurobiology of aging 69, 293.e9-293.e11 (2018). doi:10.1016/j.neurobiolaging.2018.05.005
We evaluated the genetic contribution of the T cell-restricted intracellular antigen-1 gene (TIA1) in a European cohort of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) patients. Exonic resequencing of TIA1 in 1120 patients (6
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32b1513e7629a84ce2ff2b34a8260b64
https://lirias.kuleuven.be/handle/123456789/661661
https://lirias.kuleuven.be/handle/123456789/661661
Autor:
Ebba Lohmann, Peter Heutink, Murat Emre, Thomas Gasser, Hasmet Hanagasi, Başar Bilgiç, Ece Kartal, Javier Simón-Sánchez, Nazli Basak, Gamze Guven, Anamika Giri, Ann-Kathrin Hauser
Publikováno v:
Parkinsonism & related disorders 29, 117-120 (2016). doi:10.1016/j.parkreldis.2016.03.001
Objective DJ1 mutations (PARK7) are among the monogenic causes of early-onset autosomal recessive parkinsonism. Here, we report clinical and genetic findings in a family with Turkish origin carrying a new DJ1 mutation and presenting with early-onset
Autor:
Eva C. Verbeek, Witte J.G. Hoogendijk, Jacqueline G. Hugtenburg, T. Uithuisje, Peter Heutink, Marianna R. Bevova, Yuri Milaneschi, Brenda W.J.H. Penninx, D.B.M. Straver, Pierre M. Bet
Publikováno v:
Pharmacogenomics Journal, 16(2), 202-208. Nature Publishing Group
Bet, P M, Verbeek, E C, Milaneschi, Y, Straver, D B M, Uithuisje, T, Bevova, M R, Hugtenburg, J G, Heutink, P, Penninx, B W J H & Hoogendijk, W J G 2016, ' A common polymorphism in the ABCB1 gene is associated with side effects of PGP-dependent antidepressants in a large naturalistic Dutch cohort ', Pharmacogenomics Journal, vol. 16, no. 2, pp. 202-208 . https://doi.org/10.1038/tpj.2015.38
Pharmacogenomics journal, 16(2), 202-208. Nature Publishing Group
The pharmacogenomics journal 16(2), 202-208 (2015). doi:10.1038/tpj.2015.38
Pharmacogenomics Journal, 16(2), 202-208
Bet, P M, Verbeek, E C, Milaneschi, Y, Straver, D B M, Uithuisje, T, Bevova, M R, Hugtenburg, J G, Heutink, P, Penninx, B W J H & Hoogendijk, W J G 2016, ' A common polymorphism in the ABCB1 gene is associated with side effects of PGP-dependent antidepressants in a large naturalistic Dutch cohort ', Pharmacogenomics Journal, vol. 16, no. 2, pp. 202-208 . https://doi.org/10.1038/tpj.2015.38
Pharmacogenomics journal, 16(2), 202-208. Nature Publishing Group
The pharmacogenomics journal 16(2), 202-208 (2015). doi:10.1038/tpj.2015.38
Pharmacogenomics Journal, 16(2), 202-208
The drug efflux transporter permeability glycoprotein (PGP) and cytochrome P450 (CYP) 2C19 are important for eliminating antidepressants from the brain and body. The ABCB1 gene, encoding for PGP, and CYP2C19 gene have several variants that could infl