Zobrazeno 1 - 10
of 27
pro vyhledávání: '"Joke J.F.A. van Vugt"'
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:
Yunjiang Qiu, Arianna Tucci, Sarah Fazal, Kimberley Billingsley, Samuel S. Chong, Joke J.F.A. van Vugt, Viraj Deshpande, Egor Dolzhenko, Jan M. Friedman, Ashley Carroll, Matt C. Danzi, Phillip A. Richmond, Kristina Ibanez Garikano, Ramona A. J. Zwamborn, Michael A. Eberle, Ben Weisburd, Konrad Scheffler, Jinhui Ding, Andreas Halman, Bharati Jadhav, Indhu Shree Rajan Babu, Mark F. Bennett, Heidi L. Rehm
BackgroundExpansions of short tandem repeats are the cause of many neurogenetic disorders including familial amyotrophic lateral sclerosis, Huntington disease, and many others. Multiple methods have been recently developed that can identify repeat ex
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::af07b6578d36ff39814bf479f876e746
https://doi.org/10.1101/2021.10.20.465046
https://doi.org/10.1101/2021.10.20.465046
Autor:
Martine Maïbèche, Hélène Boulain, Christophe Bressac, Laure Kaiser, Emma Persyn, Valérie Barbe, Anthony Bretaudeau, Martial Marbouty, Bernard Duvic, Georges Periquet, Annie Bézier, Lyam Baudry, Jean-Marc Aury, Mahnaz Sabeti-Azad, Géraldine Dubreuil, Karine Labadie, Fernando Luis Cônsoli, Benjamin Noel, Frédérique Hilliou, Thomas Chertemps, Elisabeth A. Herniou, Mohamed Amine Chebbi, Fabrice Legeai, Jérémy Gauthier, Jetske G. de Boer, Nicolas Montagné, Joelle Amselem, Jean-Michel Drezen, Thibaut Josse, Sébastien J. M. Moreau, Sven Warris, Louise E. M. Vet, Isabelle Boulogne, Myriam Harry, Diane Bigot, Elisabeth Huguet, Karine Musset, Natacha Kremer, Claire Capdevielle-Dulac, Joke J.F.A. van Vugt, James B. Whitfield, Aurélie Hua-Van, Hans M. Smid, Gaëlle Le Goff, Romain Koszul, Bruna Laís Merlin, Stéphane Dupas, Isabelle Luyten, Philippe Gayral, Emmanuelle Jacquin-Joly, David Siaussat
Publikováno v:
Communications Biology
Communications Biology, Vol 4, Iss 1, Pp 1-1 (2021)
Communications Biology, Vol 4, Iss 1, Pp 1-1 (2021)
Endogenous viruses form an important proportion of eukaryote genomes and a source of novel functions. How large DNA viruses integrated into a genome evolve when they confer a benefit to their host, however, remains unknown. Bracoviruses are essential
Autor:
Farhad Karbassi, Joke J.F.A. van Vugt, Daman Kumari, Doreen Dobritzsch, Britt I. Drögemöller, Michael A. Eberle, Clara D. M. van Karnebeek, Maja Tarailo-Graovac, Brett Trost, Ronald J. A. Wanders, Saikat Santra, Michel van Weeghel, Youdong Wang, Wyeth W. Wasserman, Marjolein Turkenburg, Xiao-Yan Wen, Andre B. P. van Kuilenburg, Meaghan J Jones, Jagdeep S. Walia, Koroboshka Brand-Arzamendi, Rene Leen, Julia L Macisaac, Hans R. Waterham, Laura A. Tseng, Michael S. Kobor, Charlotte Nguyen, Karen Usdin, Janet Koster, Indhu-Shree Rajan-Babu, Xiaohong Xu, Bernice Sim, Jinqiu Zhang, Jan H. Veldink, Meng Li, Egor Dolzhenko, Ryan K. C. Yuen, Stephen W. Scherer, Cassandra L. McDonald, Judith Meijer, Phillip A. Richmond, Bruce E. Hayward, C. J. Ross, Galen E.B. Wright, Mahmoud A. Pouladi, Michael T. Geraghty
Publikováno v:
New England journal of medicine, 380(15), 1433-1441. Massachussetts Medical Society
New England Journal of Medicine, 380(15), 1433-1441. Massachussetts Medical Society
van Kuilenburg, A B P, Tarailo-Graovac, M, Richmond, P A, Drögemöller, B I, Pouladi, M A, Leen, R, Brand-Arzamendi, K, Dobritzsch, D, Dolzhenko, E, Eberle, M A, Hayward, B, Jones, M J, Karbassi, F, Kobor, M S, Koster, J, Kumari, D, Li, M, MacIsaac, J, McDonald, C, Meijer, J, Nguyen, C, Rajan-Babu, I S, Scherer, S W, Sim, B, Trost, B, Tseng, L A, Turkenburg, M, van Vugt, J J F A, Veldink, J H, Walia, J S, Wang, Y, van Weeghel, M, Wright, G E B, Xu, X, Yuen, R K C, Zhang, J, Ross, C J, Wasserman, W W, Geraghty, M T, Santra, S, Wanders, R J A, Wen, X Y, Waterham, H R, Usdin, K & van Karnebeek, C D M 2019, ' Glutaminase deficiency caused by short tandem repeat expansion in GLS ', New England Journal of Medicine, vol. 380, no. 15, pp. 1433-1441 . https://doi.org/10.1056/NEJMoa1806627
N Engl J Med
New England Journal of Medicine, 380(15), 1433-1441. Massachussetts Medical Society
van Kuilenburg, A B P, Tarailo-Graovac, M, Richmond, P A, Drögemöller, B I, Pouladi, M A, Leen, R, Brand-Arzamendi, K, Dobritzsch, D, Dolzhenko, E, Eberle, M A, Hayward, B, Jones, M J, Karbassi, F, Kobor, M S, Koster, J, Kumari, D, Li, M, MacIsaac, J, McDonald, C, Meijer, J, Nguyen, C, Rajan-Babu, I S, Scherer, S W, Sim, B, Trost, B, Tseng, L A, Turkenburg, M, van Vugt, J J F A, Veldink, J H, Walia, J S, Wang, Y, van Weeghel, M, Wright, G E B, Xu, X, Yuen, R K C, Zhang, J, Ross, C J, Wasserman, W W, Geraghty, M T, Santra, S, Wanders, R J A, Wen, X Y, Waterham, H R, Usdin, K & van Karnebeek, C D M 2019, ' Glutaminase deficiency caused by short tandem repeat expansion in GLS ', New England Journal of Medicine, vol. 380, no. 15, pp. 1433-1441 . https://doi.org/10.1056/NEJMoa1806627
N Engl J Med
We report an inborn error of metabolism caused by an expansion of a GCA-repeat tract in the 5′ untranslated region of the gene encoding glutaminase (GLS) that was identified through detailed clinical and biochemical phenotyping, combined with whole
Autor:
Myriam Harry, Bernard Duvic, Anthony Bretaudeau, Hélène Boulain, Jetske G. de Boer, Jean-Marc Aury, Claire Capdevielle-Dulac, Annie Bézier, Diane Bigot, Natacha Kremer, Laure Kaiser, Lyam Baudry, Joke J.F.A. van Vugt, Jean-Michel Drezen, Georges Periquet, Stéphane Dupas, Romain Koszul, Aurélie Hua-Van, Jérémy Gauthier, Fabrice Legeai, Emma Persyn, Mahnaz Sabeti-Azad, Fernando Luis Cônsoli, Valérie Barbe, Joelle Amselem, Karine Labadie, Benjamin Noel, Frédérique Hilliou, Martine Maïbèche, Géraldine Dubreuil, Isabelle Luyten, Karine Musset, Martial Marbouty, Christophe Bressac, Isabelle Boulogne, Louise E. M. Vet, Thibaut Josse, Philippe Gayral, Hans M. Smid, Emmanuelle Jacquin-Joly, David Siaussat, James B. Whitfield, Elisabeth A. Herniou, Mohamed Amine Chebbi, Thomas Chertemps, Nicolas Montagné, Sébastien J. M. Moreau, Elisabeth Huguet, Bruna Laís Merlin, Gaëlle Le Goff, Sven Warris
Publikováno v:
Communications Biology
Communications Biology, Nature Publishing Group, 2021, 4 (1), pp.1-15. ⟨10.1038/s42003-020-01623-8⟩
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Communications Biology, Vol 4, Iss 1, Pp 1-15 (2021)
Communications Biology, 2021, 4 (1), pp.1-15. ⟨10.1038/s42003-020-01623-8⟩
Communications biology, 4(1):104. Nature Publishing Group
Communications Biology, 4(1)
Communications Biology, 4(1). Nature Research
Communications Biology 4 (2021) 1
Communications Biology, Nature Publishing Group, 2021, 4 (1), pp.1-15. ⟨10.1038/s42003-020-01623-8⟩
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Communications Biology, Vol 4, Iss 1, Pp 1-15 (2021)
Communications Biology, 2021, 4 (1), pp.1-15. ⟨10.1038/s42003-020-01623-8⟩
Communications biology, 4(1):104. Nature Publishing Group
Communications Biology, 4(1)
Communications Biology, 4(1). Nature Research
Communications Biology 4 (2021) 1
Endogenous viruses form an important proportion of eukaryote genomes and a source of novel functions. How large DNA viruses integrated into a genome evolve when they confer a benefit to their host, however, remains unknown. Bracoviruses are essential
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa20eb6c7354115f5af05cb96770c0a2
https://hal.archives-ouvertes.fr/hal-03127732/document
https://hal.archives-ouvertes.fr/hal-03127732/document
Autor:
Vincenzo Silani, Mamede de Carvalho, Nicola Ticozzi, Joke J.F.A. van Vugt, Kristel R. van Eijk, Patrick Vourc'h, Markus Weber, Wouter van Rheenen, Kevin P. Kenna, Christopher Shaw, Wim Robberecht, Philippe Couratier, Mònica Povedano, Jonathan D. Glass, Pamela J. Shaw, Ramona A. J. Zwamborn, Ammar Al-Chalabi, John Landers, Michael A. Eberle, Michael A. van Es, Xiao Chen, Leonard H. van den Berg, Brendan J. Kenna, Philippe Corcia, Karen E. Morrison, Marc Gotkine, Russell McLaughin, Peter M. Andersen, Matthieu Moisse, Philip Van Damme, Rick A.A. van der Spek, Jesus S. Mora Pardina, Orla Hardiman, Vivian E. Drory, Jan H. Veldink, Nazli Basak
Publikováno v:
Annals of Neurology
Annals of Neurology, Wiley, 2021, 89 (4), pp.686-697. ⟨10.1002/ana.26009⟩
Moisse, M, Zwamborn, R A J, van Vugt, J, van der Spek, R, van Rheenen, W, Kenna, B, Van Eijk, K, Kenna, K, Corcia, P, Couratier, P, Vourc'h, P, Hardiman, O, McLaughin, R, Gotkine, M, Drory, V, Ticozzi, N, Silani, V, de Carvalho, M, Mora Pardina, J S, Povedano, M, Andersen, P M, Weber, M, Başak, N A, Chen, X, Eberle, M A, Al-Chalabi, A, Shaw, C, Shaw, P J, Morrison, K E, Landers, J E, Glass, J D, Robberecht, W, van Es, M, van den Berg, L, Veldink, J & Van Damme, P 2021, ' The Effect of SMN Gene Dosage on ALS Risk and Disease Severity ', Annals of neurology, vol. 89, no. 4, pp. 686-697 . https://doi.org/10.1002/ana.26009
Annals of Neurology, Wiley, 2021, 89 (4), pp.686-697. ⟨10.1002/ana.26009⟩
Moisse, M, Zwamborn, R A J, van Vugt, J, van der Spek, R, van Rheenen, W, Kenna, B, Van Eijk, K, Kenna, K, Corcia, P, Couratier, P, Vourc'h, P, Hardiman, O, McLaughin, R, Gotkine, M, Drory, V, Ticozzi, N, Silani, V, de Carvalho, M, Mora Pardina, J S, Povedano, M, Andersen, P M, Weber, M, Başak, N A, Chen, X, Eberle, M A, Al-Chalabi, A, Shaw, C, Shaw, P J, Morrison, K E, Landers, J E, Glass, J D, Robberecht, W, van Es, M, van den Berg, L, Veldink, J & Van Damme, P 2021, ' The Effect of SMN Gene Dosage on ALS Risk and Disease Severity ', Annals of neurology, vol. 89, no. 4, pp. 686-697 . https://doi.org/10.1002/ana.26009
Objective: the role of the survival of motor neuron (SMN) gene in amyotrophic lateral sclerosis (ALS) is unclear, with several conflicting reports. A decisive result on this topic is needed, given that treatment options are available now for SMN defi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3715c4d9f16d388386c6a85027bec3ed
http://cdm21054.contentdm.oclc.org/cdm/ref/collection/IR/id/9307
http://cdm21054.contentdm.oclc.org/cdm/ref/collection/IR/id/9307
Autor:
Rebecca M. Borg, Neville Vassallo, Andrew Farrugia Wismayer, Ruben J. Cauchi, Karl Bonavia, Maia Farrugia Wismayer, Malcolm Vella, Joke J.F.A. van Vugt, Brendan J. Kenna, Kevin P. Kenna, Jan H. Veldink
Publikováno v:
European journal of human genetics : EJHG. 29(4)
Genetic isolates are compelling tools for mapping genes of inherited disorders. The archipelago of Malta, a sovereign microstate in the south of Europe is home to a geographically and culturally isolated population. Here, we investigate the epidemiol
Autor:
Sai Chen, Ryan K. C. Yuen, David R. Bentley, Stephen W. Scherer, Vladimir G. Gainullin, Phillip A. Richmond, Jan H. Veldink, Mark F. Bennett, Egor Dolzhenko, Giuseppe Narzisi, Charlotte Nguyen, Melanie Bahlo, Bryan R. Lajoie, Andrew M. Gross, Michael A. Eberle, Wyeth W. Wasserman, Ryan J. Taft, Joke J.F.A. van Vugt, Brett Trost
Publikováno v:
Genome Biology
Genome Biology, Vol 21, Iss 1, Pp 1-14 (2020)
Genome Biology, Vol 21, Iss 1, Pp 1-14 (2020)
Expansions of short tandem repeats are responsible for over 40 monogenic disorders, and undoubtedly many more pathogenic repeat expansions (REs) remain to be discovered. Existing methods for detecting REs in short-read sequencing data require predefi
Autor:
Courtney E. French, Konrad Scheffler, Andrew M. Gross, Giuseppe Narzisi, Bryan R. Lajoie, Joke J.F.A. van Vugt, Sai Chen, Lucy Raymond, David R. Bentley, Roman Petrovski, Peter Krusche, Ryan J. Taft, Alba Sanchis-Juan, Felix Schlesinger, Dorothea Emig-Agius, Egor Dolzhenko, Kristina Ibáñez, Brett Bowman, Jan H. Veldink, Arianna Tucci, Viraj Deshpande, Michael A. Eberle
Publikováno v:
Bioinformatics
Summary We describe a novel computational method for genotyping repeats using sequence graphs. This method addresses the long-standing need to accurately genotype medically important loci containing repeats adjacent to other variants or imperfect DNA
Autor:
Felix Schlesinger, Peter Krusche, Michael A. Eberle, Andrew M. Gross, Courtney E. French, Konrad Scheffler, Sai Chen, Ryan J. Taft, Joke J.F.A. van Vugt, Lucy Raymond, Dorothea Emig-Agius, Roman Petrovski, Jan H. Veldink, Viraj Deshpande, David R. Bentley, Egor Dolzhenko, Bryan R. Lajoie, Giuseppe Narzisi, Brett Bowman, Kristina Ibáñez, Alba Sanchis-Juan, Arianna Tucci
SummaryWe describe a novel computational method for genotyping repeats using sequence graphs. This method addresses the long-standing need to accurately genotype medically important loci containing repeats adjacent to other variants or imperfect DNA
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fed556e19721864b3b23e96b33497117
https://doi.org/10.1101/572545
https://doi.org/10.1101/572545