Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Gijs H.P. Tazelaar"'
Autor:
Gijs H.P. Tazelaar, Paul J. Hop, Meinie Seelen, Joke J.F.A. van Vugt, Wouter van Rheenen, Lindy Kool, Kristel R. van Eijk, Marleen Gijzen, Dennis Dooijes, Matthieu Moisse, Andrea Calvo, Cristina Moglia, Maura Brunetti, Antonio Canosa, Angelica Nordin, Jesus S. Mora Pardina, John Ravits, Ammar Al-Chalabi, Adriano Chio, Russell L. McLaughlin, Orla Hardiman, Philip Van Damme, Mamede de Carvalho, Christoph Neuwirth, Markus Weber, Peter M Andersen, Leonard H. van den Berg, Jan H. Veldink, Michael A. van Es
© 2022 The Author(s). Published by Elsevier Inc. This is an open access article under the CC BY license.
Amyotrophic lateral sclerosis is a heterogeneous, fatal neurodegenerative disease, characterized by motor neuron loss and in 50% of cases a
Amyotrophic lateral sclerosis is a heterogeneous, fatal neurodegenerative disease, characterized by motor neuron loss and in 50% of cases a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e136e7aceb30a75736cbb9b44899449e
https://hdl.handle.net/10451/55900
https://hdl.handle.net/10451/55900
Autor:
Orla Hardiman, Karen E. Morrison, Johnathan Cooper-Knock, Susan Mathers, Matthieu Moisse, Kevin P. Kenna, Michal Zabari, Ruben J. Cauchi, Jonathan Mill, Maurizio Grassano, Paul J. Hop, de Carvalho M, Allan F. McRae, John Landers, Heiko Runz, Basak An, Lerner Y, Mònica Povedano, Drory, Patrick Vourc'h, Philippe Couratier, van Rheenen W, Jan H. Veldink, Denis Baird, Antonia Ratti, Van Damme P, Garth A. Nicholson, Andrea Calvo, van Vugt Jj, Nicola Ticozzi, Eilis Hannon, Antonio Canosa, Silani, Matthew C. Kiernan, Ian P. Blair, Guy A. Rouleau, Mitne Neto M, Kelly L. Williams, Christopher Shaw, Emma Walker, Markus Weber, Frederik J. Steyn, Anjali K. Henders, Peter M. Andersen, Marta F. Nabais, Henk-Jan Westeneng, Dominic B. Rowe, Ramona A. J. Zwamborn, Salas T, Susana Pinto, Shyuan T. Ngo, van den Berg Lh, Sarah Furlong, Adriano Chiò, Mora Pardina Js, Marc Gotkine, Leanne Wallace, Al Khleifat A, Naomi R. Wray, Tian Lin, Roger Pamphlett, Ellen A. Tsai, Alfredo Iacoangeli, Gijs H.P. Tazelaar, Robert D. Henderson, van Es Ma, Pamela J. Shaw, Annelot M. Dekker, Ammar Al-Chalabi, Pamela A. McCombe, Maura Brunetti, Merrilee Needham, Philippe Corcia, Karen A. Mather, Gemma Shireby, Jay P. Ross, Russell L. McLaughlin, Pasterkamp Rj, van Eijk Kr, Patrick A. Dion, Cristina Moglia, Perminder S. Sachdev, Fleur C. Garton
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with an estimated heritability of around 50%. DNA methylation patterns can serve as biomarkers of (past) exposures and disease progression, as well as providing a potential mech
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8556070cd9b1c1f5ac53e9116e951f3a
https://lirias.kuleuven.be/handle/20.500.12942/686780
https://lirias.kuleuven.be/handle/20.500.12942/686780
Autor:
Bas Middelkoop, Rick A.A. van der Spek, Matthieu Moisse, Kevin P. Kenna, Maarten Kooyman, Karen E. Morrison, Orla HardimanMD, Philip Van Damme, Michael A. van Es, Fulya Akçimen, John Landers, Jesus S. Mora, William J. Brands, Jan H. Veldink, Gijs H.P. Tazelaar, Kristel E. van Eijk, William Sproviero, Raymond D. Schellevis, Stephen E. Newhouse, Leonard H. van den Berg, Christopher Shaw, Mònica Povedano, Cemile Kocoglu, Jonathan D. Glass, A. Nazli Basak, Ceren Tunca, Sara L. Pulit, Wouter van Rheenen, Pamela J. Shaw, Ammar Al-Chalabi, Perry T.C. van Doormaal, Wim Robberecht, Annelot M. Dekker, Russell L. McLaughlin
Publikováno v:
Annals of Neurology. 84:110-116
Objective: After the initial report of a CHCHD10 mutation in mitochondrial disease with features resembling amyotrophic lateral sclerosis (ALS), CHCHD10 mutations have been considered to be a frequent cause for ALS. However, the exact pathogenicity a
Autor:
Gijs H.P. Tazelaar, Yolanda Campos, Pamela J. Shaw, Rick A.A. van der Spek, Ammar Al-Chalabi, Ian R. A. Mackenzie, John Landers, Mónica Povedano Panades, Ceren Tunca, Johnathan Cooper-Knock, Karen E. Morrison, Orla Hardiman, Janez Zidar, Vivian E. Drory, Atay Vural, Vera Fominyh, Kristel R. van Eijk, Raymond D. Schellevis, Ahmad Al Khleifat, Phillipe Corcia, Ersen Kavak, Stephan Newhouse, Mamede de Carvalho, Kevin P. Kenna, Sara L. Pulit, William J. Brands, Nazli Basak, Marc Gotkine, Gabriel Miltenberger-Miltenyi, Matthieu Moisse, Jesus S. Mora, Annelot M. Dekker, Joke J.F.A. van Vugt, Boris Rogelj, Philip Van Damme, Wim Robberecht, Ervina Bilić, Maarten Kooyman, William Sproviero, Nicolas Dupré, Blaz Koritnik, Tuncay Seker, Leonard H. van den Berg, Jan H. Veldink, Ross P. Byrne, Brendan J. Kenna, Naomi R. Wray, P. Couratier, Perry T.C. van Doormaal, Jonathan D. Glass, Johnathan Mill, Russell L. McLaughlin, Bas Middelkoop, Lev Brylev, Alberto Garcia Redondo, Nicola Ticozzi, Markus Weber, Wouter van Rheenen, Mayana Zatz, Christopher Shaw, Cemile Kocoglu, Ivana Munitic, Ekaterina Rogaeva, Miguel Mitne-Neto, Peter M. Andersen, Vincenzo Silani, Michael A. van Es, Fulya Akçimen, Aleksey Shatunov, Matthew C. Kiernan, Ian P. Blair, Guy A. Rouleau, Adriano Chiò, Alfredo Iacoangeli, Victoria Lopez Alonso
Amyotrophic lateral sclerosis (ALS) is a rapidly progressive fatal neurodegenerative disease affecting 1 in 350 people. The aim of Project MinE is to elucidate the pathophysiology of ALS through whole-genome sequencing at least 15,000 ALS patients an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3f62c750b45b898ec256f70dbb62f6d7
https://doi.org/10.1101/377911
https://doi.org/10.1101/377911
Autor:
Matthieu Moisse, Jesus S. Mora, Philip Van Damme, Annelot M. Dekker, Michael A. van Es, Gijs H.P. Tazelaar, William Sproviero, Pamela J. Shaw, Ammar Al-Chalabi, Leonard H. van den Berg, Christopher Shaw, Sara L. Pulit, Bas M. Middelkoop, Orla Hardiman, Kristel R. van Eijk, Wouter van Rheenen, A. Nazli Basak, Perry T.C. van Doormaal, Raymond D. Schellevis, Ahmad Al Khleifat, Ersen Kavak, Wim Robberecht, Karen E. Morrison, Jonathan D. Glass, Maarten Kooyman, Alfredo Iacoangeli, John E. Landers, William J. Brands, Russell L. McLaughlin, Jan H. Veldink, Stephen Newhouse, Kevin P. Kenna, Aleksey Shatunov, Winston Hide, Rick A.A. van der Spek, Joke J.F.A. van Vugt
The most recent genome-wide association study in amyotrophic lateral sclerosis (ALS) demonstrates a disproportionate contribution from low-frequency variants to genetic susceptibility of disease. We have therefore begun Project MinE, an international
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52eac1be97833dbe0897e9b1c03254a4
https://doi.org/10.1101/152553
https://doi.org/10.1101/152553
Autor:
Aleksey Shatunov, An Goris, John Hardy, Thomas F. Meyer, Sandra D'Alfonso, Christian A. Hübner, Karol Estrada, Susana Pinto, Cristina Moglia, Perry T.C. van Doormaal, Simona Arcuti, Thomas Meitinger, Siddharthan Chandran, Kim A. Staats, Cinzia Bertolin, Peter M. Andersen, Ricardo Rojas-García, William Sproviero, Katie Sidle, François Salachas, Robert Swingler, Anna M. Blokhuis, Thomas M. Ringer, Emily P. McCann, Garth A. Nicholson, Lude Franke, Sven Cichon, Julian Grosskreutz, Markus M. Nöthen, Bernhard Landwehrmeyer, Lukas Tittmann, Jennifer A. Fifita, Christian R. Andres, Alice Vajda, Viviana Pensato, Lauren Elman, Gijs H.P. Tazelaar, Christian Lunetta, Patrick Vourc'h, Christopher Shaw, Gilbert Bensimon, Orla Hardiman, Kuang Lin, Pamela J. Shaw, Alessandro Padovani, Massimiliano Filosto, Jan H. Veldink, Boris Rogelj, Giacomo P. Comi, Matthew C. Kiernan, Philippe Corcia, Giancarlo Logroscino, Ammar Al-Chalabi, Blaž Koritnik, Safaa Saker-Delye, Ian P. Blair, Alexis Brice, Jochen H. Weishaupt, Gianni Sorarù, Maura Brunetti, Alan M. Pittman, Vincenzo Silani, Cindy Maurel, Alexandra Durr, Catherine Lomen-Hoerth, Matthew R. Robinson, Russell L. McLaughlin, Martina Wiedau-Pazos, Chiara Zecca, Nilo Riva, Ashley R. Jones, Andre Franke, Tune H. Pers, Roberto Del Bo, Dominic B. Rowe, Susanne Petri, Sara L. Pulit, John Q. Trojanowski, Wim Robberecht, Christine Payan, Otto W. Witte, Katharine Y. Zhang, Jesus S. Mora, Rick A.A. van der Spek, Urmo Võsa, Kevin P. Kenna, Marcella Rietschel, Milena Radivojkov-Blagojevic, Tino Prell, Philip Van Damme, Leja Dolenc Grošelj, Androniki Menelaou, Beatrice Stubendorff, Cristina Cereda, Kristel R. van Eijk, Leo McCluskey, Jean-François Dartigues, Rosa Capozzo, Markus Weber, Cinzia Tiloca, Michael A. van Es, Wouter van Rheenen, Paul I.W. de Bakker, Carsten Drepper, Bradley N. Smith, Ettore Beghi, Jian Yang, Peter M. Visscher, Hamid Hamzeiy, John Landers, A. Nazli Basak, Hylke M. Blauw, Annelot M. Dekker, Richard W. Orrell, Silvana Penco, Fernando Rivadeneira, Marianne de Visser, Ceren Tunca, Cathryn M. Lewis, Vincent Meininger, Andrea Malaspina, Raymond D. Schellevis, Leonard H. van den Berg, Rosanna Tortelli, Shuna Colville, Anneke J. van der Kooi, Ingo Kurth, Roger Pamphlett, Stéphanie Millecamps, Janez Zidar, Michael Sendtner, Simone de Jong, Roel A. Ophoff, Mamede de Carvalho, Karen E. Morrison, Robbert Jan Stuit, Letizia Mazzini, Jonathan D. Glass, Yesim Parman, Albert Hofman, Lea Leonardis, Naomi R. Wray, Meraida Polak, William J. Brands, Susanne Abdulla, Bernard Muller, Cinzia Gellera, Max Koppers, Pietro Fratta, John Powell, Charles Curtis, Peter Lichtner, Frank P. Diekstra, Adriano Chiò, Isabella Fogh, Federico Casale, Nicholas W. Wood, Katarina Vrabec, André G. Uitterlinden, Vivianna M. Van Deerlin, Gerome Breen, Wolfgang Lieb, Oliver Harschnitz, Nicola Ticozzi, P. Nigel Leigh, R. Jeroen Pasterkamp, Simon Topp, Metka Ravnik-Glavač, Christophe Tzourio, Robert H. Brown, Andrea Calvo, Orietta Pansarasa, Jelena Medic, Albert C. Ludolph, Elisabetta Pupillo, Antonia Ratti, Philippe Amouyel
Publikováno v:
Van Rheenen, W, Shatunov, A, Dekker, A M, Mclaughlin, R L, Diekstra, F P, Pulit, S L, Van Der Spek, R A A, Võsa, U, De Jong, S, Robinson, M R, Yang, J, Fogh, I, Van Doormaal, P T, Tazelaar, G H P, Koppers, M, Blokhuis, A M, Sproviero, W, Jones, A R, Kenna, K P, Van Eijk, K R, Harschnitz, O, Schellevis, R D, Brands, W J, Medic, J, Menelaou, A, Vajda, A, Ticozzi, N, Lin, K, Rogelj, B, Vrabec, K, Ravnik-glavač, M, Koritnik, B, Zidar, J, Leonardis, L, Grošelj, L D, Millecamps, S, Salachas, F, Meininger, V, De Carvalho, M, Pinto, S, Mora, J S, Rojas-garcía, R, Polak, M, Chandran, S, Colville, S, Swingler, R, Morrison, K E, Shaw, P J, Hardy, J, Orrell, R W, Pittman, A, Sidle, K, Fratta, P, Malaspina, A, Topp, S, Petri, S, Abdulla, S, Drepper, C, Sendtner, M, Meyer, T, Ophoff, R A, Staats, K A, Wiedau-pazos, M, Lomen-hoerth, C, Van Deerlin, V M, Trojanowski, J Q, Elman, L, Mccluskey, L, Basak, A N, Tunca, C, Hamzeiy, H, Parman, Y, Meitinger, T, Lichtner, P, Radivojkov-blagojevic, M, Andres, C R, Maurel, C, Bensimon, G, Landwehrmeyer, B, Brice, A, Payan, C A M, Saker-delye, S, Dürr, A, Wood, N W, Tittmann, L, Lieb, W, Franke, A, Rietschel, M, Cichon, S, Nöthen, M M, Amouyel, P, Tzourio, C, Dartigues, J, Uitterlinden, A G, Rivadeneira, F, Estrada, K, Hofman, A, Curtis, C, Blauw, H M, Van Der Kooi, A J, De Visser, M, Goris, A, Weber, M, Shaw, C E, Smith, B N, Pansarasa, O, Cereda, C, Del Bo, R, Comi, G P, D'alfonso, S, Bertolin, C, Sorarù, G, Mazzini, L, Pensato, V, Gellera, C, Tiloca, C, Ratti, A, Calvo, A, Moglia, C, Brunetti, M, Arcuti, S, Capozzo, R, Zecca, C, Lunetta, C, Penco, S, Riva, N, Padovani, A, Filosto, M, Muller, B, Stuit, R J, Blair, I, Zhang, K, Mccann, E P, Fifita, J A, Nicholson, G A, Rowe, D B, Pamphlett, R, Kiernan, M C, Grosskreutz, J, Witte, O W, Ringer, T, Prell, T, Stubendorff, B, Kurth, I, Hübner, C A, Leigh, P N, Casale, F, Chio, A, Beghi, E, Pupillo, E, Tortelli, R, Logroscino, G, Powell, J, Ludolph, A C, Weishaupt, J H, Robberecht, W, Van Damme, P, Franke, L, Pers, T H, Brown, R H, Glass, J D, Landers, J E, Hardiman, O, Andersen, P M, Corcia, P, Vourc'h, P, Silani, V, Wray, N R, Visscher, P M, De Bakker, P I W, Van Es, M A, Pasterkamp, R J, Lewis, C M, Breen, G, Al-chalabi, A, Van Den Berg, L H & Veldink, J H 2016, ' Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis ', Nature Genetics . https://doi.org/10.1038/ng.3622
Nature Genetics, 48(9), 1043-1050. Nature Publishing Group
NATURE GENETICS
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
van Rheenen, W, Shatunov, A, Dekker, A M, McLaughlin, R L, Diekstra, F P, Pulit, S L, van der Spek, R A A, Võsa, U, de Jong, S, Robinson, M R, Yang, J, Fogh, I, van Doormaal, P T, Tazelaar, G H P, Koppers, M, Blokhuis, A M, Sproviero, W, Jones, A R, Kenna, K P, van Eijk, K R, Harschnitz, O, Schellevis, R D, Brands, W J, Medic, J, Menelaou, A, Vajda, A, Ticozzi, N, Lin, K, Rogelj, B, Vrabec, K, Ravnik-Glavač, M, Koritnik, B, Zidar, J, Leonardis, L, Grošelj, L D, Millecamps, S, Salachas, F, Meininger, V, de Carvalho, M, Pinto, S, Fratta, P, Topp, S, Curtis, C, Shaw, C E, Smith, B N, Leigh, P N, Powell, J, Lewis, C M, Breen, G, Al-Chalabi, A 2016, ' Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis ', Nature Genetics, vol. 48, pp. 1043–1048 . https://doi.org/10.1038/ng.3622
Nature Genetics
Nature Genetics, 48(9), 1043-1048. Nature Publishing Group
Nature genetics, 48(9), 1043-1048. Nature Publishing Group
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Nature Genetics, 48(9), 1043-1050. Nature Publishing Group
NATURE GENETICS
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
van Rheenen, W, Shatunov, A, Dekker, A M, McLaughlin, R L, Diekstra, F P, Pulit, S L, van der Spek, R A A, Võsa, U, de Jong, S, Robinson, M R, Yang, J, Fogh, I, van Doormaal, P T, Tazelaar, G H P, Koppers, M, Blokhuis, A M, Sproviero, W, Jones, A R, Kenna, K P, van Eijk, K R, Harschnitz, O, Schellevis, R D, Brands, W J, Medic, J, Menelaou, A, Vajda, A, Ticozzi, N, Lin, K, Rogelj, B, Vrabec, K, Ravnik-Glavač, M, Koritnik, B, Zidar, J, Leonardis, L, Grošelj, L D, Millecamps, S, Salachas, F, Meininger, V, de Carvalho, M, Pinto, S, Fratta, P, Topp, S, Curtis, C, Shaw, C E, Smith, B N, Leigh, P N, Powell, J, Lewis, C M, Breen, G, Al-Chalabi, A 2016, ' Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis ', Nature Genetics, vol. 48, pp. 1043–1048 . https://doi.org/10.1038/ng.3622
Nature Genetics
Nature Genetics, 48(9), 1043-1048. Nature Publishing Group
Nature genetics, 48(9), 1043-1048. Nature Publishing Group
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Copyright © 2016, Nature Publishing Group, a division of Macmillan Publishers Limited. All Rights Reserved.
To elucidate the genetic architecture of amyotrophic lateral sclerosis (ALS) and find associated loci, we assembled a custom imputation
To elucidate the genetic architecture of amyotrophic lateral sclerosis (ALS) and find associated loci, we assembled a custom imputation
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b15b973eef3492fa234ec27a3981a5c
https://hdl.handle.net/20.500.11820/2ef172e1-fba8-414f-bc99-bc0875101c33
https://hdl.handle.net/20.500.11820/2ef172e1-fba8-414f-bc99-bc0875101c33
Autor:
Philip Van Damme, Kristel R. van Eijk, Albert C. Ludolph, Jesus S. Mora Pardina, Wim Robberecht, Orla Hardiman, Rick A.A. van der Spek, Andrea Calvo, Jochen H. Weishaupt, Leonard H. van den Berg, Gijs H.P. Tazelaar, Maura Brunetti, Russell L. McLaughlin, Jan H. Veldink, Frank P. Diekstra, Sara L. Pulit, Adriano Chiò, Michael Sendtner, Annelot M. Dekker, Wouter van Rheenen
Publikováno v:
Scientific Reports
Scientific Reports, 9(1). Nature Publishing Group
Scientific Reports, Vol 9, Iss 1, Pp 1-8 (2019)
Scientific Reports, 9(1). Nature Publishing Group
Scientific Reports, Vol 9, Iss 1, Pp 1-8 (2019)
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease that affects 1 in ~350 individuals. Genetic association studies have established ALS as a multifactorial disease with heritability estimated at ~61%, and recent studies show a p