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Thomas Herberhold

Dr.

20172025

Research activity per year

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Dive into the research topics where Thomas Herberhold is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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  • 5 Original Article
  • 1 Review article

  • Expanding the Genetic and Phenotypic Spectrum of POLRMT-Related Mitochondrial Disease

    Fassad, M. R., Valenzuela, S., Olahova, M., Collier, J. J., Knowles, C. V. Y., Mavraki, E., Elbracht, M., Guezel, N., Herberhold, T. (Co-author), Kurth, I., Maier, A., Mattern, L., Saunders, C., McCullagh, H., Ounap, K., Wortmann, S. B. (Co-author), Reis, A., Zhang, L., Gustafsson, C. M. & McFarland, R. & 1 others, Taylor, R. W., 29 Jun 2025, In: CLINICAL GENETICS. 9 p.

    Research output: Contribution to journal › Original Article › peer-review

    1 Citation (Web of Science)

  • Intraventricular Application of Baclofen Using Navigated Frameless Stereotaxy: A Technical Note

    Abel, M., Kudernatsch, M. (Co-author), Persits, S., Onyinzo, C., Herberhold, T. (Co-author), Hartlieb, T. (Co-author), Kluger, G. (Co-author) & Berweck, S., 5 Mar 2025, In: NEUROPEDIATRICS . 5 p.

    Research output: Contribution to journal › Original Article › peer-review

  • Toward a working definition of ketogenic diet resistance in GLUT1 deficiency syndrome

    Falsaperla, R., Sortino, V., Kluger, G. J. (Co-author), Herberhold, T. (Co-author), Ruegger, A., Striano, P., Ruggieri, M., Klepper, J. & Ramantani, G., 30 Sept 2025, In: EPILEPTIC DISORDERS. 8 p.

    Research output: Contribution to journal › Original Article › peer-review

    Open Access

  • Exploring ketogenic diet resistance in glucose transporter type 1 deficiency syndrome: A comprehensive review and critical appraisal

    Falsaperla, R., Sortino, V., Kluger, G. J. (Co-author), Herberhold, T. (Co-author), Rüegger, A., Striano, P., Ruggieri, M., Klepper, J. & Ramantani, G., Dec 2024, In: Epilepsia Open. 10, 1, p. 31-39 9 p.

    Research output: Contribution to journal › Review article › peer-review

    Open Access

  • Monogenic variants in dystonia: an exome-wide sequencing study.

    Zech, M., Jech, R., Boesch, S., Škorvánek, M., Weber, S., Wagner, M., Zhao, C., Jochim, A., Necpál, J., Dincer, Y., Vill, K., Distelmaier, F., Stoklosa, M., Krenn, M., Grunwald, S., Bock-Bierbaum, T., Fečíková, A., Havránková, P., Roth, J. & Příhodová, I. & 91 others, Adamovičová, M., Ulmanová, O., Bechyně, K., Danhofer, P., Veselý, B., Haň, V., Pavelekova, P., Gdovinová, Z., Mantel, T., Meindl, T., Sitzberger, A., Schröder, S., Blaschek, A., Roser, T., Bonfert, M. V., Haberlandt, E., Plecko, B., Leineweber, B., Berweck, S., Herberhold, T. (Co-author), Langguth, B., Švantnerová, J., Minár, M., Ramos-Rivera, G. A., Wojcik, M. H., Pajusalu, S., Õunap, K., Schatz, U. A., Pölsler, L., Milenkovic, I., Laccone, F., Pilshofer, V., Colombo, R., Patzer, S., Iuso, A., Vera, J., Troncoso, M., Fang, F., Prokisch, H., Wilbert, F., Eckenweiler, M., Graf, E., Westphal, D. S., Riedhammer, K. M., Brunet, T., Alhaddad, B., Berutti, R., Strom, T. M., Hecht, M., Baumann, M., Wolf, M., Telegrafi, A., Person, R. E., Zamora, F. M., Henderson, L. B., Weise, D., Musacchio, T., Volkmann, J., Szuto, A., Becker, J., Cremer, K., Sycha, T., Zimprich, F., Kraus, V., Makowski, C., Gonzalez-Alegre, P., Bardakjian, T. M., Ozelius, L. J., Vetro, A., Guerrini, R., Maier, E., Borggraefe, I., Kuster, A., Wortmann, S. (Co-author), Hackenberg, A., Steinfeld, R., Assmann, B., Staufner, C., Opladen, T., Růžička, E., Cohn, R. D., Dyment, D., Chung, W. K., Engels, H., Ceballos-Baumann, A., Ploski, R., Daumke, O., Haslinger, B., Mall, V., Oexle, K. & Winkelmann, J., 2020, In: LANCET NEUROLOGY. 19, 11, p. 908-918

    Research output: Contribution to journal › Original Article › peer-review

    168 Citations (Web of Science)
View all 6 research outputs