Spatial and temporal lineage analysis of a Pitx3-driven Cre-recombinase knock-in mouse model.

Autor: Marten P Smidt, Lars von Oerthel, Elisa J Hoekstra, Raymond D Schellevis, Marco F M Hoekman

Publikováno v: PLoS ONE, Vol 7, Iss 8, p e42641 (2012)

Development and function of mesodiencephalic dopaminergic (mdDA) neurons has received a lot of scientific interest since these neurons are critically involved in neurological diseases as Parkinson and psychiatric diseases as schizophrenia, depression

Externí odkaz: https://doaj.org/article/725213c7e919480baee73d9becc6cbd5

FoxO6 affects Plxna4-mediated neuronal migration during mouse cortical development

Autor: Raymond D. Schellevis, Annemarie J. A. Vastenhouw-van der Linden, Marian J. A. Groot Koerkamp, Marco F.M. Hoekman, Cindy M. R. J. Wagemans, Ricardo H. Paap, Lars von Oerthel, Marten P. Smidt, Saskia Oosterbroek

Publikováno v: Proceedings of the National Academy of Sciences of the United States of America, 113(45), E7087-E7096. National Academy of Sciences

The forkhead transcription factor FoxO6 is prominently expressed during development of the murine neocortex. However, its function in cortical development is as yet unknown. We now demonstrate that cortical development is altered in FoxO6+/- and FoxO

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e59a04b6fa4e763e6579178d81aceea
https://doi.org/10.1073/pnas.1609111113

Project MinE: study design and pilot analyses of a large-scale whole genome sequencing study in amyotrophic lateral sclerosis

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

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

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
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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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b15b973eef3492fa234ec27a3981a5c
https://hdl.handle.net/20.500.11820/2ef172e1-fba8-414f-bc99-bc0875101c33

Fc gamma receptor IIIA genotype is associated with rituximab response in antimyelin-associated glycoprotein neuropathy

Autor: Raymond D. Schellevis, Jeanette H. W. Leusen, Jikke-Mien F Niermeijer, W-Ludo van der Pol, Nicolette C. Notermans, Leonard H. van den Berg, Maaike Nederend, Abraham C. J. Stork

Publikováno v: Journal of neurology, neurosurgery, and psychiatry, 85(8), 916-918. BMJ Publishing Group

Background Treatment with anti-B cell antibody rituximab may ameliorate the disease course in a subgroup of patients with polyneuropathy associated with IgM monoclonal gammopathy. Polymorphisms of leukocyte IgG receptors (Fc gamma R) that influence e

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e98a6bd812371a354074149e4dcfa30
https://pure.amc.nl/en/publications/fc-gamma-receptor-iiia-genotype-is-associated-with-rituximab-response-in-antimyelinassociated-glycoprotein-neuropathy(0856d539-91c9-4868-8c36-5f844d29df5b).html