Steffen Syrbe

Publication Activity (10 Years)

Years Active: 2020-2024
Publications (10 Years): 11

Top Topics

Mild Cognitive Impairment

Cross Sectional

Parkinson Disease

Top Venues

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

Publications

Kim M Thalwitzer, Julie Xian, Danielle M DeCampo, Shridhar Parthasarathy, Jan Magielski, Katie Rose Sullivan, James Goss, Charlene Son Rigby, Michael J Boland, Benjamin L Prosser, Sarah M Ruggiero, Steffen Syrbe, Ingo Helbig
Early life seizures and epileptic spasms in STXBP1-related disorders. Epilepsia 65 (3) (2024)
Clara Houdayer, A Marie Phillips, Marie Chabbert, Jennifer Bourreau, Reza Maroofian, Henry Houlden, Kay Richards, Nebal Waill Saadi, Eliška Dad'ová, Patrick Van Bogaert, Mailys Rupin, Boris Keren, Perrine Charles, Thomas Smol, Audrey Riquet, Lynn S Pais, Anne H O'Donnell-Luria, Grace E VanNoy, Allan Bayat, Rikke Steensjerre Moller, Kern Olofsson, Rami Abou Jamra, Steffen Syrbe, Majed Dasouki, Laurie H Seaver, Jennifer A Sullivan, Vandana Shashi, Fowzan Sami Alkuraya, Alexis F Poss, J Edward Spence, Rhonda E Schnur, Ian C Forster, Chaseley E McKenzie, Cas Simons, Min Wang, Penny Snell, Russell C Dale, Michael Buckley, Tony Roscioli, Noha Elserafy, Benjamin Dauriat, Vincent Procaccio, Henrion Daniel, Guy Lenaers, Estelle Colin, Nienke E Verbeek, Koen L Van Gassen, Claire Legendre, Dominique Bonneau, Christopher A Reid, Katherine B Howell, Alban Ziegler, Christian Legros
Mono and biallelic variants in HCN2 cause severe neurodevelopmental disorders. medRxiv : the preprint server for health sciences (2024)
Kim M Thalwitzer, Julie Xian, Danielle M DeCampo, Shridhar Parthasarathy, Jan Magielski, Katie Rose Sullivan, James Goss, Charlene Son Rigby, Michael J Boland, Benjamin L Prosser, Sarah M Ruggiero, Steffen Syrbe, Ingo Helbig
Early life seizures and epileptic spasms in STXBP1-related disorders. Epilepsia (2024)
Kim M Thalwitzer, Julie Xian, Danielle M DeCampo, Shridhar Parthasarathy, Jan Magielski, Katie Rose Sullivan, James Goss, Charlene Son Rigby, Michael J Boland, Benjamin L Prosser, Sarah M Ruggiero, Steffen Syrbe, Ingo Helbig
Early life seizures and epileptic spasms in STXBP1-related disorders. Epilepsia (2024)
Kim M Thalwitzer, Julie Xian, Danielle M DeCampo, Shridhar Parthasarathy, Jan Magielski, Katie Rose Sullivan, James Goss, Charlene Son Rigby, Michael J Boland, Benjamin L Prosser, Sarah M Ruggiero, Steffen Syrbe, Ingo Helbig
Early life seizures and epileptic spasms in STXBP1-related disorders. Epilepsia 65 (3) (2024)
Fabienne Kühne, Lena-Luise Becker, Thomas Bast, Astrid Bertsche, Ingo Borggraefe, Christian Malte Boßelmann, Jörg Fahrbach, Christoph Hertzberg, Nina A Herz, Martin Hirsch, Martin Holtkamp, Christine Janello, Gerhard Josef Kluger, Gerhard Kurlemann, Holger Lerche, Konstantin L Makridis, Felix von Podewils, Milka Pringsheim, Susanne Schubert-Bast, Juliane Schulz, Andreas Schulze-Bonhage, David Steinbart, Bernhard J Steinhoff, Adam Strzelczyk, Steffen Syrbe, Heike De Vries, Christiane Wagner, Johanna Wagner, Bernd Wilken, Christine Prager, Kerstin Alexandra Klotz, Angela M Kaindl
Real-world data on cannabidiol treatment of various epilepsy subtypes: A retrospective, multicenter study. Epilepsia open (2023)
Julian Schröter, Bernt Popp, Heiko Brennenstuhl, Jan H Döring, Stephany H Donze, Emilia K Bijlsma, Arie van Haeringen, Dagmar Huhle, Leonie Jestaedt, Andreas Merkenschlager, Maria Arelin, Daniel Gräfe, Sonja Neuser, Stephanie Oates, Deb K Pal, Michael J Parker, Johannes R Lemke, Georg F Hoffmann, Stefan Kölker, Inga Harting, Steffen Syrbe
Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies. European journal of human genetics : EJHG 30 (3) (2022)
Bigna Katrin Bölsterli, Eugen Boltshauser, Luigi Palmieri, Johannes Spenger, Michaela Brunner-Krainz, Felix Distelmaier, Peter Freisinger, Tobias Geis, Andrea L Gropman, Johannes Häberle, Julia Hentschel, Bruno Jeandidier, Daniela Karall, Boris Keren, Annick Klabunde-Cherwon, Vassiliki Konstantopoulou, Raimund Kottke, Francesco M Lasorsa, Christine Makowski, Cyril Mignot, Ruth Tuura O'Gorman, Vito Porcelli, René Santer, Kuntal Sen, Katja Steinbrücker, Steffen Syrbe, Matias Wagner, Andreas Ziegler, Thomas Zöggeler, Johannes Adalbert Mayr, Holger Prokisch, Saskia B Wortmann
Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier. Nutrients 14 (17) (2022)
Afshin Saffari, Julian Schröter, Sven F Garbade, Julian Emanuel Alecu, Darius Ebrahimi-Fakhari, Georg F Hoffmann, Stefan Kölker, Markus Ries, Steffen Syrbe
Quantitative retrospective natural history modeling of WDR45-related developmental and epileptic encephalopathy - a systematic cross-sectional analysis of 160 published cases. Autophagy (2021)
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)
Julian Schröter, Jan H Döring, Sven F Garbade, Georg F Hoffmann, Stefan Kölker, Markus Ries, Steffen Syrbe
Cross-sectional quantitative analysis of the natural history of TUBA1A and TUBB2B tubulinopathies. Genetics in medicine : official journal of the American College of Medical Genetics 23 (3) (2020)