Felix Distelmaier

ORCID

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 12

Top Venues

Antioxidants (Basel, Switzerland)

Journal of medical genetics

Neuropediatrics

Clinical genetics

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

Publications

Felix Distelmaier, Abdullah Sezer, Christina Helm, Stephan Waldmüller, Annette Seibt, Andrea Gangfuß, Heike Kölbel, Ulrike Schara-Schmidt, Deniz Yuksel, Beril Talim, Ertan Mayatepek, Stefan Nikolin, Joachim Weis, Andreas Roos, Tobias B Haack
Biallelic truncating variants in PACSIN3 cause childhood-onset myopathy with hyperCKaemia. Brain : a journal of neurology 147 (7) (2024)
Juliane Münch, Jannik Prasuhn, Lucia Laugwitz, Cheuk-Wing Fung, Brian Hon-Yin Chung, Marcello Bellusci, Felix Distelmaier, Dirk Klee, Felix Distelmaier
Neuroimaging in Primary Coenzyme-Q 10 -Deficiency Disorders. Antioxidants (Basel, Switzerland) 12 (3) (2023)
Juliane Münch, Jannik Prasuhn, Lucia Laugwitz, Cheuk-Wing Fung, Brian Hon-Yin Chung, Marcello Bellusci, Felix Distelmaier, Dirk Klee, Felix Distelmaier
Neuroimaging in Primary Coenzyme-Q 10 -Deficiency Disorders. Antioxidants (Basel, Switzerland) 12 (3) (2023)
Luisa Averdunk, Eva Thimm, Dirk Klee, Tobias B Haack, Felix Distelmaier
Classical homocystinuria presenting with transient basal ganglia pathology and dystonia. Journal of inherited metabolic disease (2023)
Tharsini Navaratnarajah, Marlen Bellmann, Annette Seibt, Ruchika Anand, Özer Degistirici, Roland Meisel, Ertan Mayatepek, Andreas Reichert, Fabian Baertling, Felix Distelmaier
Mesenchymal stem cells improve redox homeostasis and mitochondrial respiration in fibroblast cell lines with pathogenic MT-ND3 and MT-ND6 variants. Stem cell research & therapy 13 (1) (2022)
Luisa Averdunk, Dirk Klee, Dagmar Wieczorek, Tobias B Haack, Felix Distelmaier
RANBP2 Mutation Mimicking Viral Encephalitis. Neuropediatrics 53 (4) (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)
Luisa Averdunk, Sandra Donkervoort, Denise Horn, Stephan Waldmüller, Safoora Syeda, Sarah B Neuhaus, Katherine R Chao, Anne van Riesen, Darja Gauck, Tobias Haack, Anna S Japp, Unaa Lee, Carsten G Bönnemann, Ertan Mayatepek, Felix Distelmaier
Recognizable Pattern of Arthrogryposis and Congenital Myopathy Caused by the Recurrent TTN Metatranscript-only c.39974-11T > G Splice Variant. Neuropediatrics 53 (5) (2022)
Lucia Laugwitz, Annette Seibt, Diran Herebian, Susana Peralta, Imke Kienzle, Rebecca Buchert, Ruth Falb, Darja Gauck, Amelie Müller, Mona Grimmel, Stefanie Beck-Woedel, Jan Kern, Karim Daliri, Pegah Katibeh, Katharina Danhauser, Steffen Leiz, Viola Alesi, Fabian Baertling, Gessica Vasco, Robert Steinfeld, Matias Wagner, Ahmet Okay Çağlayan, Hakan Gumus, Margit Burmeister, Ertan Mayatepek, Diego Martinelli, Parag Mohan Tamhankar, Vasundhara Tamhankar, Pascal Joset, Katharina Steindl, Anita Rauch, Penelope E Bonnen, Tawfiq Froukh, Samuel Groeschel, Ingeborg Krägeloh-Mann, Tobias B Haack, Felix Distelmaier
Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes. Journal of medical genetics (2021)
Ruth J Falb, Amelie J Müller, Wolfram Klein, Mona Grimmel, Ute Grasshoff, Stephanie Spranger, Petra Stöbe, Darja Gauck, Alma Kuechler, Nicola Dikow, Eva M C Schwaibold, Christoph Schmidt, Luisa Averdunk, Rebecca Buchert, Tilman Heinrich, Natalia Prodan, Joohyun Park, Martin Kehrer, Marc Sturm, Olga Kelemen, Silke Hartmann, Denise Horn, Dirk Emmerich, Nina Hirt, Armin Neumann, Glen Kristiansen, Ulrich Gembruch, Susanne Haen, Reiner Siebert, Sabine Hentze, Markus Hoopmann, Stephan Ossowski, Stephan Waldmüller, Stefanie Beck-Wödl, Dieter Gläser, Ismail Tekesin, Felix Distelmaier, Olaf Riess, Karl-Oliver Kagan, Andreas Dufke, Tobias B Haack
Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplex. Journal of medical genetics (2021)
Theresa Brunet, Robert Jech, Melanie Brugger, Reka Kovacs, Bader Alhaddad, Gloria S Leszinski, Korbinian M Riedhammer, Dominik Sebastian Westphal, Isabella Mahle, Katharina Mayerhanser, Matej Skorvanek, Sandrina Weber, Elisabeth Graf, Riccardo Berutti, Ján Necpál, Petra Havránková, Petra Pavelekova, Maja Hempel, Urania Kotzaeridou, Georg F Hoffmann, Steffen Leiz, Christine Makowski, Timo Roser, Sebastian A Schroeder, Robert Steinfeld, Gertrud Strobl-Wildemann, Julia Hoefele, Ingo Borggraefe, Felix Distelmaier, Tim M Strom, Juliane Winkelmann, Thomas Meitinger, Michael Zech, Matias Wagner
De novo variants in neurodevelopmental disorders-experiences from a tertiary care center. Clinical genetics 100 (1) (2021)
Stefani Harmsen, Rebecca Buchert, Ertan Mayatepek, Tobias B Haack, Felix Distelmaier
Bain type of X-linked syndromic mental retardation in boys. Clinical genetics 95 (6) (2019)

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Publication Activity (10 Years)

Top Topics

Top Venues

Felix Distelmaier