Zobrazeno 1 - 10
of 276
pro vyhledávání: '"Rikke S Møller"'
Autor:
Paula Rivera-Sánchez, Line Søndergaard, Methi Wathikthinnakon, Helena B. D. Magnusson, Henriette R Frederiksen, Freja Aabæk Hammer, Reema Taleb, Conan Christian Cassidy, Mads Tranholm Bruun, Zeynep Tümer, Bjørn Holst, Charlotte Brasch-Andersen, Rikke S Møller, Kristine Freude, Abinaya Chandrasekaran
Publikováno v:
Stem Cell Research, Vol 71, Iss , Pp 103193- (2023)
Developmental and epileptic encephalopathies (DEEs) are rare severe neurodevelopmental disorders with a cumulative incidence of 1:6.000 live births. Many epileptic conditions arise from single nucleotide variants in CACNA1A (calcium voltage-gated cha
Externí odkaz:
https://doaj.org/article/650935d9c78d4a648531301dd5806137
Autor:
Francesco Miceli, Charissa Millevert, Maria Virginia Soldovieri, Ilaria Mosca, Paolo Ambrosino, Lidia Carotenuto, Dewi Schrader, Hyun Kyung Lee, James Riviello, William Hong, Sarah Risen, Lisa Emrick, Hitha Amin, Dorothée Ville, Patrick Edery, Julitta de Bellescize, Vincent Michaud, Julien Van-Gils, Cyril Goizet, Marjolein H. Willemsen, Tjitske Kleefstra, Rikke S Møller, Allan Bayat, Orrin Devinsky, Tristan Sands, G. Christoph Korenke, Gerhard Kluger, Heather C. Mefford, Eva Brilstra, Gaetan Lesca, Mathieu Milh, Edward C. Cooper, Maurizio Taglialatela, Sarah Weckhuysen
Publikováno v:
EBioMedicine, Vol 81, Iss , Pp 104130- (2022)
Summary: Background: Prior studies have revealed remarkable phenotypic heterogeneity in KCNQ2-related disorders, correlated with effects on biophysical features of heterologously expressed channels. Here, we assessed phenotypes and functional propert
Externí odkaz:
https://doaj.org/article/27289a7516ba4ba9b422fb966fcb4594
Autor:
Thomas F Hansen, Rikke S Møller
Publikováno v:
EBioMedicine, Vol 58, Iss , Pp 102896- (2020)
Externí odkaz:
https://doaj.org/article/3b00845b70e440c49729d5eca1de98d4
Autor:
Cinzia Signorini, Claudio De Felice, Silvia Leoncini, Rikke S Møller, Gloria Zollo, Sabrina Buoni, Alessio Cortelazzo, Roberto Guerranti, Thierry Durand, Lucia Ciccoli, Maurizio D'Esposito, Kirstine Ravn, Joussef Hayek
Publikováno v:
PLoS ONE, Vol 11, Iss 3, p e0150101 (2016)
Rett syndrome (RTT) and MECP2 duplication syndrome (MDS) are neurodevelopmental disorders caused by alterations in the methyl-CpG binding protein 2 (MECP2) gene expression. A relationship between MECP2 loss-of-function mutations and oxidative stress
Externí odkaz:
https://doaj.org/article/a25ffdc1971a40308ba4f98e5c814c60
Autor:
Dennis Lal, Ann-Kathrin Ruppert, Holger Trucks, Herbert Schulz, Carolien G de Kovel, Dorothée Kasteleijn-Nolst Trenité, Anja C M Sonsma, Bobby P Koeleman, Dick Lindhout, Yvonne G Weber, Holger Lerche, Claudia Kapser, Christoph J Schankin, Wolfram S Kunz, Rainer Surges, Christian E Elger, Verena Gaus, Bettina Schmitz, Ingo Helbig, Hiltrud Muhle, Ulrich Stephani, Karl M Klein, Felix Rosenow, Bernd A Neubauer, Eva M Reinthaler, Fritz Zimprich, Martha Feucht, Rikke S Møller, Helle Hjalgrim, Peter De Jonghe, Arvid Suls, Wolfgang Lieb, Andre Franke, Konstantin Strauch, Christian Gieger, Claudia Schurmann, Ulf Schminke, Peter Nürnberg, EPICURE Consortium, Thomas Sander
Publikováno v:
PLoS Genetics, Vol 11, Iss 5, p e1005226 (2015)
Genetic generalised epilepsy (GGE) is the most common form of genetic epilepsy, accounting for 20% of all epilepsies. Genomic copy number variations (CNVs) constitute important genetic risk factors of common GGE syndromes. In our present genome-wide
Externí odkaz:
https://doaj.org/article/7a9aaf42fe42407c9b6b46e8e6a9130a
Autor:
Dennis Lal, Eva M Reinthaler, Janine Altmüller, Mohammad R Toliat, Holger Thiele, Peter Nürnberg, Holger Lerche, Andreas Hahn, Rikke S Møller, Hiltrud Muhle, Thomas Sander, Fritz Zimprich, Bernd A Neubauer
Publikováno v:
PLoS ONE, Vol 8, Iss 9, p e73323 (2013)
Partial deletions of the gene encoding the neuronal splicing regulator RBFOX1 have been reported in a range of neurodevelopmental diseases, including idiopathic generalized epilepsy. The RBFOX1 protein and its homologues (RBFOX2 and RBFOX3) regulate
Externí odkaz:
https://doaj.org/article/c75163a24f994194b80d2d5d06936096
Autor:
Alberto Cossu, Joana L. Santos, Giulia Galati, Marina Nikanorova, Paola Costa, Yuan Mang, Asli Silahtaroglu, Guido Rubboli, Niels Tommerup, Bernardo Dalla Bernardina, Rikke S. Møller, Gaetano Cantalupo, Elena Gardella
Publikováno v:
Neurological Sciences. 44:2173-2176
Autor:
Mathis Hildonen, Marco Ferilli, Tina Duelund Hjortshøj, Morten Dunø, Lotte Risom, Mads Bak, Jakob Ek, Rikke S. Møller, Andrea Ciolfi, Marco Tartaglia, Zeynep Tümer
Publikováno v:
Clinical Genetics. 103:688-692
Autor:
Hannah C. Happ, Lynette G. Sadleir, Matthew Zemel, Guillem de Valles-Ibáñez, Michael S. Hildebrand, Allyn McConkie-Rosell, Marie McDonald, Halie May, Tristan Sands, Vimla Aggarwal, Christopher Elder, Timothy Feyma, Allan Bayat, Rikke S. Møller, Christina D. Fenger, Jens Erik Klint Nielsen, Anita N. Datta, Kathleen M. Gorman, Mary D. King, Natalia D. Linhares, Barbara K. Burton, Andrea Paras, Sian Ellard, Julia Rankin, Anju Shukla, Purvi Majethia, Rory J. Olson, Karthik Muthusamy, Lisa A. Schimmenti, Keith Starnes, Lucie Sedláčková, Katalin Štěrbová, Markéta Vlčková, Petra Laššuthová, Alena Jahodová, Brenda E. Porter, Nathalie Couque, Estelle Colin, Clément Prouteau, Corinne Collet, Thomas Smol, Roseline Caumes, Fleur Vansenne, Francesca Bisulli, Laura Licchetta, Richard Person, Erin Torti, Kirsty McWalter, Richard Webster, Elizabeth E. Gerard, Gaetan Lesca, Pierre Szepetowski, Ingrid E. Scheffer, Heather C. Mefford, Gemma L. Carvill
Publikováno v:
Neurology
Neurology, 2023, 100 (6), pp.e603-e615. ⟨10.1212/WNL.0000000000201492⟩
Neurology, 2023, 100 (6), pp.e603-e615. ⟨10.1212/WNL.0000000000201492⟩
Background and ObjectivesKCNH5encodes the voltage-gated potassium channel EAG2/Kv10.2. We aimed to delineate the neurodevelopmental and epilepsy phenotypic spectrum associated with de novoKCNH5variants.MethodsWe screened 893 individuals with developm
Autor:
Ilona, Krey, Konrad, Platzer, Alina, Esterhuizen, Samuel F, Berkovic, Ingo, Helbig, Michael S, Hildebrand, Holger, Lerche, Daniel, Lowenstein, Rikke S, Møller, Annapurna, Poduri, Lynette, Sadleir, Sanjay M, Sisodiya, Sarah, Weckhuysen, Jo M, Wilmshurst, Yvonne, Weber, Johannes R, Lemke, Samuel F., Berkovic, J. Helen, Cross, Heathea C., Mefford, Piero, Perucca, Nigel C.K., Tan, Hande, Caglayan, Katherine, Helbig, Gagandeep, Singh
Publikováno v:
Epileptic disorders
Epilepsy genetics is a rapidly developing field, in which novel disease-associated genes, novel mechanisms associated with epilepsy, and precision medicine approaches are continuously being identified. In the past decade, advances in genomic knowledg