Zobrazeno 1 - 10
of 95
pro vyhledávání: '"Esther, Meyer"'
Autor:
Esther Meyer, Ulli Vilsmaier
Publikováno v:
Sustentabilidade em Debate, Vol 11, Iss 1, Pp 98-124 (2020)
The dissemination of sustainability has worldwide increased significantly in discourses and politics since the UN-resolution of the ‘Sustainable Development Goals’ in 2015. Nevertheless, the meanings of the concept vary in different linguistic co
Externí odkaz:
https://doaj.org/article/ff74dce7cb8b4a2799d2ad875bb99b3f
Publikováno v:
Trials, Vol 20, Iss 1, Pp 1-10 (2019)
Abstract Background The term “nocebo effect” describes the phenomenon that the mere knowledge and anticipation of possible negative consequences of an intervention can increase the probability of experiencing these consequences. Our objective was
Externí odkaz:
https://doaj.org/article/12cb3114a3534267b02c77bcd28bc37a
Autor:
Belén Pérez‐Dueñas, Kathleen Gorman, Anna Marcé‐Grau, Juan D. Ortigoza‐Escobar, Alfons Macaya, Federica R. Danti, Katy Barwick, Apostolos Papandreou, Joanne Ng, Esther Meyer, Shekeeb S. Mohammad, Martin Smith, Francesco Muntoni, Pinki Munot, Johanna Uusimaa, Päivi Vieira, Eammon Sheridan, Renzo Guerrini, Jan Cobben, Sanem Yilmaz, Elisa De Grandis, Russell C. Dale, Roser Pons, Kathryn J. Peall, Vincenzo Leuzzi, Manju A. Kurian
Publikováno v:
Scientia
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Background and Objective: The objective of this study was to better delineate the genetic landscape and key clinical characteristics of complex, early-onset, monogenic hyperkinetic movement disorders. Methods: Patients were recruited from 14 internat
Autor:
Karin Tuschl, Esther Meyer, Leonardo E. Valdivia, Ningning Zhao, Chris Dadswell, Alaa Abdul-Sada, Christina Y. Hung, Michael A. Simpson, W. K. Chong, Thomas S. Jacques, Randy L. Woltjer, Simon Eaton, Allison Gregory, Lynn Sanford, Eleanna Kara, Henry Houlden, Stephan M. Cuno, Holger Prokisch, Lorella Valletta, Valeria Tiranti, Rasha Younis, Eamonn R. Maher, John Spencer, Ania Straatman-Iwanowska, Paul Gissen, Laila A. M. Selim, Guillem Pintos-Morell, Wifredo Coroleu-Lletget, Shekeeb S. Mohammad, Sangeetha Yoganathan, Russell C. Dale, Maya Thomas, Jason Rihel, Olaf A. Bodamer, Caroline A. Enns, Susan J. Hayflick, Peter T. Clayton, Philippa B. Mills, Manju A. Kurian, Stephen W. Wilson
Publikováno v:
Nature Communications, Vol 7, Iss 1, Pp 1-16 (2016)
Karin Tuschl, Philippa Mills and colleagues report mutations in the manganese (Mn) transporter gene SLC39A14in childhood-onset parkinsonism-dystonia. Using functional recapitulation, the authors also show that slc39A14 loss-of-function in zebrafish c
Externí odkaz:
https://doaj.org/article/122cc65e3ed24026b35cd38223a5fe6b
Autor:
Adeline Ngoh, Jose Bras, Rita Guerreiro, Amy McTague, Joanne Ng, Esther Meyer, W. Kling Chong, Stewart Boyd, Linda MacLellan, Martin Kirkpatrick, Manju A. Kurian
Publikováno v:
Tremor and Other Hyperkinetic Movements, Vol 7 (2017)
Background: Advances in molecular genetic technologies have improved our understanding of genetic causes of rare neurological disorders with features of myoclonus.Case Report: A family with two affected siblings, presenting with multifocal polymyoclo
Externí odkaz:
https://doaj.org/article/1963678a36684168b3701b1c45941646
Autor:
Kimberley M. Reid, Robert Spaull, Smrithi Salian, Katy Barwick, Esther Meyer, Juan Zhen, Hiromi Hirata, Diba Sheipouri, Hind Benkerroum, Kathleen M. Gorman, Apostolos Papandreou, Michael A. Simpson, Yoshinobu Hirano, Irene Farabella, Maya Topf, Detelina Grozeva, Keren Carss, Martin Smith, Hardev Pall, Peter Lunt, Susanna De Gressi, Erik‐Jan Kamsteeg, Tobias B. Haack, Lucinda Carr, Rita Guerreiro, Jose Bras, Eamonn R. Maher, Richard H. Scott, Robert J. Vandenberg, F. Lucy Raymond, Wui K. Chong, Sniya Sudhakar, Kshitij Mankad, Maarten E. Reith, Philippe M. Campeau, Robert J. Harvey, Manju A. Kurian
Publikováno v:
Reid, K M, Spaull, R, Salian, S, Barwick, K, Meyer, E, Zhen, J, Hirata, H, Sheipouri, D, Benkerroum, H, Gorman, K M, Papandreou, A, Simpson, M A, Hirano, Y, Farabella, I, Topf, M, Grozeva, D, Carss, K, Smith, M, Pall, H, Lunt, P, Gressi, S D, Kamsteeg, EJ, Haack, T B, Carr, L, Guerreiro, R, Bras, J, Maher, E R, Scott, R H, Vandenberg, R J, Raymond, F L, Chong, W K, Sudhakar, S, Mankad, K, Reith, M E, Campeau, P M, Harvey, R J & Kurian, M A 2022, ' MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia ', Movement Disorders, vol. 37, no. 10, pp. 2139-2146 . https://doi.org/10.1002/mds.29147
BackgroundDespite advances in next generation sequencing technologies, the identification of variants of uncertain significance (VUS) can often hinder definitive diagnosis in patients with complex neurodevelopmental disorders.ObjectiveThe objective o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae6a3f384902b53907c2243d415fc8f1
https://orca.cardiff.ac.uk/id/eprint/151492/1/mds.29147.pdf
https://orca.cardiff.ac.uk/id/eprint/151492/1/mds.29147.pdf
Autor:
Esther Meyer
Publikováno v:
Meyer, E 2020, ' Solvable problems or problematic solvability? Problem conceptualization in transdisciplinary sustainability research and a possible epistemological contribution ', GAIA, vol. 29, no. 1, pp. 34-39 . https://doi.org/10.14512/gaia.29.1.8
Problems are a major focal point in transdisciplinary sustainability research (TSR). As a text analysis shows, the term “problem” is most commonly used in the context of analyzing research processes that are directed towards societal problem-solv
Autor:
Daniela Peukert, Esther Meyer
Publikováno v:
Meyer, E & Peukert, D 2020, ' Designing a Transformative Epistemology of the Problematic : A Perspective for Transdisciplinary Sustainability Research ', Social Epistemology, vol. 34, no. 4, pp. 346-356 . https://doi.org/10.1080/02691728.2019.1706119
This paper elaborates on the question of how to design an epistemological foundation for problem-oriented, collaborative forms of research, such as transdisciplinary sustainability research. It picks up approaches of twentieth-century European philos
Autor:
Esther Meyer, Christian de Goede, Manju A. Kurian, Sniya Sudhakar, Barbara Csányi, Helen Coutts, Lucia Abela, Simon Heales, Joanne Ng, Sandeep Jayawant, Detelina Grozeva, Karl Rakshi, Angels García-Cazorla, Belén Pérez‐Dueñas, K.M. Gorman, Lorenzo Biassoni, John Cain, Toni S. Pearson, F. Lucy Raymond, Elisenda Cortès-Saladelafont, Deborah Hughes, Rosalind J. Jefferson, Kshitij Mankad, Pichet Termsarasab, Simon Pope
Publikováno v:
Movement Disorders
MOVEMENT DISORDERS
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
MOVEMENT DISORDERS
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
BACKGROUND: Juvenile forms of parkinsonism are rare conditions with onset of bradykinesia, tremor and rigidity before the age of 21 years. These atypical presentations commonly have a genetic aetiology, highlighting important insights into underlying
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4dbbc581afc3de7bd45eeac99270150a
https://orca.cardiff.ac.uk/id/eprint/140287/1/mds.28063.pdf
https://orca.cardiff.ac.uk/id/eprint/140287/1/mds.28063.pdf