@article{UBHD-68977402,
  author={B{\"o}lsterli Heinzle, Bigna and Boltshauser, Eugen and Palmieri, Luigi and Spenger, Johannes and Brunner-Krainz, Michaela and Distelmaier, Felix and Freisinger, Peter and Geis, Tobias and Gropman, Andrea L. and H{\"a}berle, Johannes and Hentschel, Julia and Jeandidier, Bruno and Karall, Daniela and Keren, Boris and Klabunde-Cherwon, Annick and Konstantopoulou, Vassiliki and Kottke, Raimund and Lasorsa, Francesco M. and Makowski, Christine and Mignot, Cyril and O’Gorman Tuura, Ruth and Porcelli, Vito and Santer, René and Sen, Kuntal and Steinbr{\"u}cker, Katja and Syrbe, Steffen and Wagner, Matias and Ziegler, Andreas and Z{\"o}ggeler, Thomas and Mayr, Johannes A. and Prokisch, Holger and Wortmann, Saskia B.},
  title={Ketogenic diet treatment of defects in the mitochondrial malate aspartate shuttle and pyruvate carrier},
  year={2022},
  pages={1-30},
  language={eng},
  issn={2072-6643},
  volume={14},
  note={Gesehen am 24.10.2022},
  journal={Nutrients},
  doi={10.3390/nu14173605},
}
@article{UBHD-69010059,
  author={Driedger, Jan Henje and Saffari, Afshin and Bast, Thomas and Brockmann, Knut and Ehrhardt, Laura and Fazeli, Walid and Janzarik, Wibke G. and Klabunde-Cherwon, Annick and Kluger, Gerhard and Muhle, Hiltrud and Pendziwiat, Manuela and Møller, Rikke S. and Platzer, Konrad and Santos, Joana Larupa and Schr{\"o}ter, Julian and Hoffmann, Georg F. and K{\"o}lker, Stefan and Syrbe, Steffen},
  title={Efficacy, tolerability, and retention of antiseizure medications in PRRT2-associated infantile epilepsy},
  year={2022},
  pages={1-11},
  language={eng},
  issn={2376-7839},
  volume={8},
  number={5 vom: Okt.},
  note={First published September 28, 2022 ; Gesehen am 25.01.2023},
  journal={Neurology},
  doi={10.1212/NXG.0000000000200020},
  url={https://doi.org/10.1212/NXG.0000000000200020},
  library={UB},
}
@article{UBHD-69217768,
  author={Kalm, Tassja and Schob, Claudia and V{\"o}ller, Hanna and Gardeitchik, Thatjana and Gilissen, Christian and Pfundt, Rolph and Kl{\"o}ckner, Chiara and Platzer, Konrad and Klabunde-Cherwon, Annick and Ries, Markus and Syrbe, Steffen and Beccaria, Francesca and Madia, Francesca and Scala, Marcello and Zara, Federico and Hofstede, Floris and Simon, Marleen E. H. and Jaarsveld, Richard H. van and Oegema, Renske and Gassen, Koen L. I. van and Holwerda, Sjoerd J. B. and Barakat, Tahsin Stefan and Bouman, Arjan and Slegtenhorst, Marjon van and Álvarez, Sara and Fernández-Jaén, Alberto and Porta, Javier and Accogli, Andrea and Mancardi, Margherita Maria and Striano, Pasquale and Iacomino, Michele and Chae, Jong-Hee and Jang, SeSong and Kim, Soo Y. and Chitayat, David and Mercimek-Andrews, Saadet and Depienne, Christel and Kampmeier, Antje and Kuechler, Alma and Surowy, Harald and Bertini, Enrico Silvio and Radio, Francesca Clementina and Mancini, Cecilia and Pizzi, Simone and Tartaglia, Marco and Gauthier, Lucas and Genevieve, David and Tharreau, Mylène and Azoulay, Noy and Zaks-Hoffer, Gal and Gilad, Nesia K. and Orenstein, Naama and Bernard, Geneviève and Thiffault, Isabelle and Denecke, Jonas and Herget, Theresia and Kort{\"u}m, Fanny and Kubisch, Christian and B{\"a}hring, Robert and Kindler, Stefan},
  title={Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity},
  year={2024},
  pages={1206-1221},
  language={eng},
  issn={1537-6605},
  volume={111},
  number={6 vom: Juni},
  note={Gesehen am 27.05.2024},
  journal={The American journal of human genetics},
  doi={10.1016/j.ajhg.2024.04.019},
}
@book{UBHD-67844694,
  author={Klabunde-Cherwon, Annick},
  title={Methylprednisolon-Stoßtherapie des West-Syndroms},
  subtitle={retrospektive Analyse von Effektivit{\"a}t und Vertr{\"a}glichkeit},
  year={2015},
  pages={101 Bl.},
  language={ger},
  school={Heidelberg, Univ., Diss., 2015},
  library={UB [Signatur: 2015 U 579]},
}
@article{UBHD-68745891,
  author={Sonnek, Benedikt and Driedger, Jan Henje and M{\"u}tze, Ulrike and Schubert-Bast, Susanne and Bast, Thomas and Balke, Doreen and Reuner, Gitta and Schuler, Elisabeth and Klabunde-Cherwon, Annick and Hoffmann, Georg F. and K{\"o}lker, Stefan and Syrbe, Steffen},
  title={Clinical spectrum and treatment outcome of 95 children with continuous spikes and waves during sleep (CSWS)},
  year={2021},
  pages={121-127},
  language={eng},
  issn={1532-2130},
  volume={30},
  note={Online 24 October 2020 ; Gesehen am 08.06.2021},
  journal={European journal of paediatric neurology},
  doi={10.1016/j.ejpn.2020.10.010},
}
@article{UBHD-69277297,
  author={Tessarech, Marine and Friocourt, Gaëlle and Marguet, Florent and Lecointre, Maryline and Le Mao, Morgane and Díaz, Rodrigo Muñoz and Mignot, Cyril and Keren, Boris and Héron, Bénédicte and De Bie, Charlotte and Van Gassen, Koen and Loisel, Didier and Delorme, Benoit and Syrbe, Steffen and Klabunde-Cherwon, Annick and Jamra, Rami Abou and Wegler, Meret and Callewaert, Bert and Dheedene, Annelies and Zidane-Marinnes, Merzouka and Guichet, Agnès and Bris, Céline and Van Bogaert, Patrick and Biquard, Florence and Lenaers, Guy and Marcorelles, Pascale and Ferec, Claude and Gonzalez, Bruno and Procaccio, Vincent and Vitobello, Antonio and Bonneau, Dominique and Laquerriere, Annie and Khiati, Salim and Colin, Estelle},
  title={De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivity},
  year={2024},
  pages={1-14},
  language={eng},
  issn={1530-0366},
  volume={26},
  note={Online verf{\"u}gbar 27 January 2024, Version des Artikels 12 March 2024 ; Gesehen am 27.11.2024},
  journal={Genetics in medicine},
  doi={10.1016/j.gim.2024.101087},
}