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Johannes Koch

Priv.-Doz. Dr.

20052025

Research activity per year

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  • Treatment of a Large Hemorrhagic Midbrain Cavernoma Within the Silvian Aqueduct in a Five-Year-Old Girl-A Case Report

    Krause, M. (First author), Michel, A.-J. (Co-author), Koch, J. (Co-author), Gradl, J. (Co-author), Pfaff, J. A. R. (Co-author), Griessenauer, C. J. (Co-author) & Stana-Hackenberg, L. (Last author), 26 Apr 2025, In: CHILDREN-BASEL. 12, 5, 5 p., 564.

    Research output: Contribution to journal › Case report › peer-review

    Open Access

  • Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant

    Blickhaeuser, B., Stenton, S. L., Neuhofer, C. M. (Co-author), Floride, E. (Co-author), Nesbitt, V., Fratter, C., Koch, J. (Co-author), Kauffmann, B., Catarino, C., Schlieben, L. D., Kopajtich, R., Carelli, V., Sadun, A. A., McFarland, R., Fang, F., La Morgia, C., Paquay, S., Nassogne, M. C., Ghezzi, D. & Lamperti, C. & 4 others, Wortmann, S. (Co-author), Poulton, J., Klopstock, T. & Prokisch, H., 3 Jun 2024, In: BRAIN . 147, 6, p. 1967-1974 8 p.

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

    Open Access
    6 Citations (Web of Science)

  • Developmental epileptic encephalopathy in DLG4-related synaptopathy

    Kassabian, B., Levy, A. M., Gardella, E., Aledo-Serrano, A., Ananth, A. L., Brea-Fernández, A. J., Caumes, R., Chatron, N., Dainelli, A., De Wachter, M., Denommé-Pichon, A.-S., Dye, T. J., Fazzi, E., Felt, R., Fernández-Jaén, A., Fernández-Prieto, M., Gantz, E., Gasperowicz, P., Gil-Nagel, A. & Gómez-Andrés, D. & 44 others, Greiner, H. M., Guerrini, R., Haanpää, M. K., Helin, M., Hoyer, J., Hurst, A. C. E., Kallish, S., Karkare, S. N., Khan, A., Kleinendorst, L., Koch, J. (Co-author), Kothare, S. V., Koudijs, S. M., Lagae, L., Lakeman, P., Leppig, K. A., Lesca, G., Lopergolo, D., Lusk, L., Mackenzie, A., Mei, D., Møller, R. S., Pereira, E. M., Platzer, K., Quelin, C., Revah-Politi, A., Rheims, S., Rodríguez-Palmero, A., Rossi, A., Santorelli, F., Seinfeld, S., Sell, E., Stephenson, D., Szczaluba, K., Trinka, E. (Co-author), Umair, M., Van Esch, H., van Haelst, M. M., Veenma, D. C. M., Weber, S., Weckhuysen, S., Zacher, P., Tümer, Z. & Rubboli, G., 22 Dec 2023, (E-pub ahead of print) In: EPILEPSIA.

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

  • KCNT2-Related Disorders: Phenotypes, Functional, and Pharmacological Properties

    Cioclu, M. C., Mosca, I., Ambrosino, P., Puzo, D., Bayat, A., Wortmann, S. B. (Co-author), Koch, J. (Co-author), Strehlow, V., Shirai, K., Matsumoto, N., Sanders, S. J., Michaud, V., Legendre, M., Riva, A., Striano, P., Muhle, H., Pendziwiat, M., Lesca, G., Mangano, G. D. & Nardello, R. & 5 others, Lemke, J. R., Møller, R. S., Soldovieri, M. V., Rubboli, G. & Taglialatela, M., Aug 2023, In: ANNALS OF NEUROLOGY . 94, 2, p. 332-349 18 p.

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

    Open Access
    12 Citations (Web of Science)

  • Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.

    Sheppard, S. E., Bryant, L., Wickramasekara, R. N., Vaccaro, C., Robertson, B., Hallgren, J., Hulen, J., Watson, C. J., Faundes, V., Duffourd, Y., Lee, P., Simon, M. C., de la Cruz, X., Padilla, N., Flores-Mendez, M., Akizu, N., Smiler, J., Pellegrino Da Silva, R., Li, D. & March, M. & 100 others, Diaz-Rosado, A., Peixoto de Barcelos, I., Choa, Z. X., Lim, C. Y., Dubourg, C., Journel, H., Demurger, F., Mulhern, M., Akman, C., Lippa, N., Andrews, M., Baldridge, D., Constantino, J., van Haeringen, A., Snoeck-Streef, I., Chow, P., Hing, A., Graham, J. M., Au, M., Faivre, L., Shen, W., Mao, R., Palumbos, J., Viskochil, D., Gahl, W., Tifft, C., Macnamara, E., Hauser, N., Miller, R., Maffeo, J., Afenjar, A., Doummar, D., Keren, B., Arn, P., Macklin-Mantia, S., Meerschaut, I., Callewaert, B., Reis, A., Zweier, C., Brewer, C., Saggar, A., Smeland, M. F., Kumar, A., Elmslie, F., Deshpande, C., Nizon, M., Cogne, B., van Ierland, Y., Wilke, M., van Slegtenhorst, M., Koudijs, S., Chen, J. Y., Dredge, D., Pier, D., Wortmann, S. (Co-author), Kamsteeg, E.-J., Koch, J. (Co-author), Haynes, D., Pollack, L., Titheradge, H., Ranguin, K., Denommé-Pichon, A.-S., Weber, S., Pérez de la Fuente, R., Sánchez Del Pozo, J., Lezana Rosales, J. M., Joset, P., Steindl, K., Rauch, A., Mei, D., Mari, F., Guerrini, R., Lespinasse, J., Tran Mau-Them, F., Philippe, C., Dauriat, B., Raymond, L., Moutton, S., Cueto-González, A. M., Tan, T. Y., Mignot, C., Grotto, S., Renaldo, F., Drivas, T. G., Hennessy, L., Raper, A., Parenti, I., Kaiser, F. J., Kuechler, A., Busk, Ø. L., Islam, L., Siedlik, J. A., Henderson, L. B., Juusola, J., Person, R., Schnur, R. E., Vitobello, A., Banka, S., Bhoj, E. J. & Stessman, H. A. F., 2023, In: SCIENCE ADVANCES. 9, 10, p. eade1463

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

    4 Citations (Web of Science)
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