Katrine Marie Johannesen (Kathrine M Johannesen, Katrine M Johannesen, Katrine M H Johannesen)

Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 21

Top Venues

Epilepsia

Nature reviews. Neurology

Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V

Neurology. Genetics

University of Southern Denmark

This page only lists publications with an associated author ORCID identifier.

Affiliation History

University of Southern Denmark Jun 01 2015

Denmark

Guest researcher :: Department of Regional Health Research

The Danish Epilepsy Center Mar 01 2015

Denmark

PhD student :: Deparment of Epilepsy Genetics and Personalized Treatment

Publications

Claudia Cuccurullo, Emanuele Cerulli Irelli, Lorenzo Ugga, Antonella Riva, Alessandra D'Amico, Sara Cabet, Gaëtan Lesca, Leonilda Bilo, Federico Zara, Catrinel Iliescu, Diana Barca, France W Fung, Katherine L Helbig, Xilma Ortiz-Gonzalez, Helenius J Schelhaas, Marjolein H Willemsen, Inge van der Linden, Canafoglia Laura, Carolina Courage, Samuele Gommaraschi, Pedro Gonzalez-Alegre, Tanya Bardakjian, Steffen Syrbe, Elisabeth Schuler, Johannes R Lemke, Stella Vari, Gitte Roende, Mads Bak, Mahbulul Huq, Zoe Powis, Katrine Marie Johannesen, Trine Bjørg Hammer, Rikke Steensjerre Moller, Rachel Rabin, John Pappas, Mary L Zupanc, Neda Zadeh, Julie Cohen, Sakkubai Naidu, Ilona Krey, Russell Saneto, Jenny Thies, Laura Licchetta, Paolo Tinuper, Francesca Bisulli, Raffaella Minardi, Carolina Alvarez, Nathalie Villeneuve, Florence Molinari, Hormos Salimi Dafsari, Birk Moller, Marie Le Roux, Clara Houdayer, Marilena Vecchi, Isabella Mammi, Elena Fiorini, Jacopo Proietti, Sofia Ferri, Gaetano Cantalupo, Domenica Immacolata Battaglia, Maria Luigia Gambardella, Ilaria Contaldo, Claudia Brogna, Marina Trivisano, Angela De Dominicis, Stefania Maria Bova, Elena Gardella, Pasquale Striano, Antonietta Coppola
Clinical features and genotype-phenotype correlations in epilepsy patients with de novo DYNC1H1 variants. Epilepsia (2024)
Katrine Marie Johannesen
From precision diagnosis to precision treatment in epilepsy. Nature reviews. Neurology 19 (2) (2023)
Arthur Stefanski, Eduardo Pérez-Palma, Tobias Brünger, Ludovica Montanucci, Cornelius Gati, Chiara Klöckner, Katrine Marie Johannesen, Kimberly Goodspeed, Marie Macnee, Alexander T Deng, Ángel Aledo-Serrano, Artem Borovikov, Maina Kava, Arjan M Bouman, M J Hajianpour, Deb K Pal, Marc Engelen, Eveline E O Hagebeuk, Marwan Shinawi, Alexis R Heidlebaugh, Kathryn Oetjens, Trevor L Hoffman, Pasquale Striano, Amanda S Freed, Line Futtrup, Thomas Balslev, Anna Abulí, Leslie Danvoye, Damien Lederer, Tugce Balci, Maryam Nabavi Nouri, Elizabeth Butler, Sarah Drewes, Kalene van Engelen, Katherine B Howell, Jean Khoury, Patrick May, Marena Trinidad, Steven Froelich, Johannes R Lemke, Jacob Tiller, Amber N Freed, Jing Qiong Kang, Arthur Wuster, Rikke S Møller, Dennis Lal
SLC6A1 variant pathogenicity, molecular function, and phenotype: a genetic and clinical analysis. Brain : a journal of neurology (2023)
Cathrine E Gjerulfsen, Tomasz S Mieszczanek, Katrine Marie Johannesen, Vivian W Y Liao, Mary Chebib, Helene A J Nørby, Elena Gardella, Guido Rubboli, Philip Ahring, Rikke Steensjerre Moller
Vinpocetine improved neuropsychiatric and epileptic outcomes in a patient with a GABRA1 loss-of-function variant. Annals of clinical and translational neurology (2023)
Katrine Marie Johannesen, Zeynep Tümer, Sarah Weckhuysen, Tahsin Stefan Barakat, Carolina Alvarez
Solving the unsolved genetic epilepsies - current and future perspectives. Epilepsia (2023)
Ilona Krey, Katrine Marie Johannesen, Oona Kohnen, Johannes R Lemke
Genetic testing in adults with developmental and epileptic encephalopathy - what do we know? Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V 34 (3) (2022)
Ilona Krey, Katrine Marie Johannesen, Oona Kohnen, Johannes R Lemke
Genetic testing in adults with developmental and epileptic encephalopathy - what do we know? Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V 34 (3) (2022)
Katrine Marie Johannesen
From precision diagnosis to precision treatment in epilepsy. Nature reviews. Neurology (2022)
Ilona Krey, Sarah von Spiczak, Katrine Marie Johannesen, Christiane Hikel, Gerhard Kurlemann, Hiltrud Muhle, Diane Beysen, Tobias Dietel, Rikke S Møller, Johannes R Lemke, Steffen Syrbe
L-Serine Treatment is Associated with Improvements in Behavior, EEG, and Seizure Frequency in Individuals with GRIN-Related Disorders Due to Null Variants. Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics 19 (1) (2022)
Nathan L Absalom, Vivian Wan Yu Liao, Katrine Marie Johannesen, Elena Gardella, Julia Jacobs, Gaëtan Lesca, Zeynep Gokce-Samar, Alexis A Arzimanoglou, Shimriet Zeidler, Pasquale Striano, Pierre Meyer, Ira Benkel-Herrenbrueck, Inger-Lise Mero, Jutta Rummel, Mary Chebib, Rikke Steensjerre Moller, Philip Kiaer Ahring
Gain-of-function and loss-of-function GABRB3 variants lead to distinct clinical phenotypes in patients with developmental and epileptic encephalopathies. Nature communications 13 (1) (2022)
Henrike O Heyne, David Baez-Nieto, Sumaiya Iqbal, Duncan S Palmer, Andreas Brunklaus, Patrick May, null null, Katrine Marie Johannesen, Stephan Lauxmann, Johannes R Lemke, Rikke Steensjerre Moller, Eduardo Pérez-Palma, Ute I Scholl, Steffen Syrbe, Holger Lerche, Dennis Lal, Arthur J Campbell, Hao-Ran Wang, Jen Pan, Mark J Daly
Predicting functional effects of missense variants in voltage-gated sodium and calcium channels. Science translational medicine 12 (556) (2021)
Katrine Marie Johannesen, Natalya Nikanorova, Dragan Marjanovic, Agnieszka Pavbro, Line H G Larsen, Guido Rubboli, Rikke Steensjerre Moller
Utility of genetic testing for therapeutic decision-making in adults with epilepsy. Epilepsia 61 (6) (2020)
Federica Malerba, Giulio Alberini, Ganna Balagura, Francesca Marchese, Elisabetta Amadori, Antonella Riva, Maria Stella Vari, Elena Gennaro, Francesca Madia, Vincenzo Salpietro, Marco Angriman, Lucio Giordano, Patrizia Accorsi, Marina Trivisano, Nicola Specchio, Angelo Russo, Giuseppe Gobbi, Federico Raviglione, Tiziana Pisano, Carla Marini, Maria M Mancardi, Lino Nobili, Elena Freri, Barbara Castellotti, Giuseppe Capovilla, Antonietta Coppola, Alberto Verrotti, Paola Martelli, Francesco Miceli, Luca Maragliano, Fabio Benfenati, Maria R Cilio, Katrine Marie Johannesen, Rikke Steensjerre Moller, Berten Ceulemans, Carlo Minetti, Sarah Weckhuysen, Federico Zara, Maurizio Taglialatela, Pasquale Striano
Genotype-phenotype correlations in patients with de novo KCNQ2 pathogenic variants. Neurology. Genetics 6 (6) (2020)
Kimberly Goodspeed, Eduardo Pérez-Palma, Sumaiya Iqbal, Dominique Cooper, Annalisa Scimemi, Katrine Marie Johannesen, Arthur Stefanski, Scott Demarest, Katherine L Helbig, Jingqiong Kang, Frances C Shaffo, Brandon Prentice, Catherine A Brownstein, Byungchan Lim, Ingo Helbig, Emily De Los Reyes, Dianalee McKnight, Vincenzo Crunelli, Arthur J Campbell, Rikke S Møller, Amber Freed, Dennis Lal
Current knowledge of SLC6A1-related neurodevelopmental disorders. Brain communications 2 (2) (2020)
Andreas Brunklaus, Juanjiangmeng Du, Felix Steckler, Ismael I Ghanty, Katrine Marie Johannesen, Christina Dühring Fenger, Stephanie Schorge, David Baez-Nieto, Hao-Ran Wang, Andrew Allen, Jen Q Pan, Holger Lerche, Henrike Heyne, Joseph D Symonds, Sameer M Zuberi, Stephan Sanders, Beth R Sheidley, Dana Craiu, Heather E Olson, Sarah Weckhuysen, Peter DeJonge, Ingo Helbig, Hilde Van Esch, Tiffany Busa, Matthieu Milh, Bertrand Isidor, Christel Depienne, Annapurna H Poduri, Arthur J Campbell, Jordane Dimidschstein, Rikke Steensjerre Moller, Dennis Lal
Biological concepts in human sodium channel epilepsies and their relevance in clinical practice. Epilepsia 61 (3) (2020)
Guido Rubboli, Rikke Steensjerre Moller, Katrine Marie Johannesen
Genetic testing in adult epilepsy patients: A call to action for clinicians. Epilepsia 61 (9) (2020)
Silvia Masnada, Anna Pichiecchio, Manuela Formica, Filippo Arrigoni, Paola Borrelli, Patrizia Accorsi, Paolo Bonanni, Renato Borgatti, Bernardo Dalla Bernardina, Alberto Danieli, Francesca Darra, Nicolas Deconinck, Valentina De Giorgis, Olivier Dulac, Svetlana Gataullina, Lucio Giordano, Renzo Guerrini, Francesca La Briola, Massimo Mastrangelo, Martino Montomoli, Marzia Mortilla, Elisa Osanni, Pasquale Parisi, Emilio Perucca, Lorenzo Pinelli, Romina Romaniello, Mariasavina Severino, Federico Vigevano, Aglaia Vignoli, Nadia Bahi-Buisson, Mara Cavallin, Andrea Accogli, Marie Burgeois, Valeria Capra, Virgine Chaves-Vischer, Luisa Chiapparini, GiovannaStefania Colafati, Stefano D'Arrigo, Isabelle Desguerre, Martine Doco-Fenzy, Giuseppe d'Orsi, Nino Epitashvili, Elisa Fazzi, Alessandro Ferretti, Elena Fiorini, Melanie Fradin, Carlo Fusco, Tiziana Granata, Katrine Marie Johannesen, Sebastien Lebon, Philippe Loget, Rikke Steensjerre Moller, Domenico Montanaro, Simona Orcesi, Chloe Quelin, Erika Rebessi, Antonino Romeo, Roberta Solazzi, Carlotta Spagnoli, Christian Uebler, Federico Zara, Alexis A Arzimanoglou, Pierangelo Veggiotti, null null
Basal Ganglia Dysmorphism in Patients With Aicardi Syndrome. Neurology 96 (9) (2020)
Katrine Marie Johannesen, Elena Gardella, Alejandra C Encinas, Anna-Elina Lehesjoki, Tarja Linnankivi, Michael B Petersen, Ida Charlotte Bay Lund, Susanne Blichfeldt, Maria J Miranda, Deb K Pal, Karine Lascelles, Peter Procopis, Alessandro Orsini, Alice Bonuccelli, Thea Giacomini, Ingo Helbig, Christina D Fenger, Sanjay M Sisodiya, Laura Hernandez-Hernandez, Sundararaman Krithika, Melissa Rumple, Silvia Masnada, Marialuisa Valente, Cristina Cereda, Lucio Giordano, Patrizia Accorsi, Sarah E Bürki, Margherita Mancardi, Christian Korff, Renzo Guerrini, Sarah von Spiczak, Dorota Hoffman-Zacharska, Tomasz Mazurczak, Antonietta Coppola, Salvatore Buono, Marilena Vecchi, Michael F Hammer, Costanza Varesio, Pierangelo Veggiotti, Dennis Lal, Tobias Brünger, Federico Zara, Pasquale Striano, Guido Rubboli, Rikke Steensjerre Moller
The spectrum of intermediate SCN8A-related epilepsy. Epilepsia 60 (5) (2019)
Eric R Wengert, Cathrine E Tronhjem, Jacy L Wagnon, Katrine Marie Johannesen, Hayley Petit, Ilona Krey, Anusha U Saga, Payal S Panchal, Samantha M Strohm, Jörn Lange, Susanne B Kamphausen, Guido Rubboli, Johannes R Lemke, Elena Gardella, Manoj K Patel, Miriam H Meisler, Rikke Steensjerre Moller
Biallelic inherited SCN8A variants, a rare cause of SCN8A-related developmental and epileptic encephalopathy. Epilepsia 60 (11) (2019)
Katrine Marie Johannesen, Diana Mitter, Robert Janowski, Christian Roth, Joseph Toulouse, Anne-Lise Poulat, Dorothee M Ville, Nicolas Chatron, Eva H Brilstra, Karin Geleijns, Alfred Peter Born, Scott McLean, Kimberly Nugent, Gareth S Baynam, Cathryn Poulton, Lauren Dreyer, Dylan Gration, Solveig Schulz, Andrea Dieckmann, Katherine L Helbig, Andreas Merkenschlager, Rami Abou Jamra, Anja Finck, Elena Gardella, Henrik Hjalgrim, Ghayda M Mirzaa, Francesco Brancati, Tatjana Bierhals, Jonas Denecke, Maja Hempel, Johannes R Lemke, Guido Rubboli, Petra Muschke, Renzo Guerrini, Annalisa Vetro, Dierk Niessing, Gaëtan Lesca, Rikke Steensjerre Moller
Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy. Neurology. Genetics 5 (6) (2019)
Katrine Marie Johannesen, Shailesh B Kolekar, Nikolaos Greve, Xiaohui Chen Nielsen, Toke Seierøe Barfod, Uffe Bodtger
Differences in mortality in Fusobacterium necrophorum and Fusobacterium nucleatum infections detected by culture and 16S rRNA gene sequencing. European journal of clinical microbiology & infectious diseases : official publication of the European Society of Clinical Microbiology 38 (1) (2018)

Katrine Marie Johannesen.css-eqlu8i{font-size:small;padding-left:4px;} (Kathrine M Johannesen, Katrine M Johannesen, Katrine M H Johannesen)

Publication Activity (10 Years)

Top Topics

Top Venues

Katrine Marie Johannesen (Kathrine M Johannesen, Katrine M Johannesen, Katrine M H Johannesen)