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Dive into the research topics where Katrine Johannesen is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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  • L-Serine Treatment is Associated with Improvements in Behavior, EEG, and Seizure Frequency in Individuals with GRIN-Related Disorders Due to Null Variants

    Krey, I., von Spiczak, S., Johannesen, K. M., Hikel, C., Kurlemann, G., Muhle, H., Beysen, D., Dietel, T., Møller, R. S., Lemke, J. R. & Syrbe, S., 7. Jan 2022, (E-pub ahead of print) In: Neurotherapeutics. 8 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

    Open Access
  • Adult phenotype of KCNQ2 encephalopathy

    Boets, S., Johannesen, K. M., Destree, A., Manti, F., Ramantani, G., Lesca, G., Vercueil, L., Koenig, M. K., Striano, P., Møller, R. S., Cooper, E. & Weckhuysen, S., Apr 2021, (E-pub ahead of print) In: Journal of Medical Genetics. 107449.

    Research output: Contribution to journalJournal articleResearchpeer-review

  • Basal Ganglia Dysmorphism in Patients With Aicardi Syndrome

    Masnada, S., Pichiecchio, A., Formica, M., Arrigoni, F., Borrelli, P., Accorsi, P., Bonanni, P., Borgatti, R., Dalla Bernardina, B., Danieli, A., Darra, F., Deconinck, N., De Giorgis, V., Dulac, O., Gataullina, S., Giordano, L., Guerrini, R., La Briola, F., Mastrangelo, M., Montomoli, M. & 44 others, Mortilla, M., Osanni, E., Parisi, P., Perucca, E., Pinelli, L., Romaniello, R., Severino, M., Vigevano, F., Vignoli, A., Bahi-Buisson, N., Cavallin, M., Accogli, A., Burgeois, M., Capra, V., Chaves-Vischer, V., Chiapparini, L., Colafati, G., D'Arrigo, S., Desguerre, I., Doco-Fenzy, M., D'Orsi, G., Epitashvili, N., Fazzi, E., Ferretti, A., Fiorini, E., Fradin, M., Fusco, C., Granata, T., Johannesen, K. M., Lebon, S., Loget, P., Moller, R. S., Montanaro, D., Orcesi, S., Quelin, C., Rebessi, E., Romeo, A., Solazzi, R., Spagnoli, C., Uebler, C., Zara, F., Arzimanoglou, A., Veggiotti, P. & Grp, A. S. I. S., 2. Mar 2021, In: Neurology: Clinical Practice. 96, 9, p. E1319-E1333

    Research output: Contribution to journalJournal articleResearchpeer-review

  • Deciphering the premature mortality in PIGA-CDG: An untold story

    Bayat, A., Kløvgaard, M., Johannesen, K. M., Stefan Barakat, T., Kievit, A., Montomoli, M., Parrini, E., Pietrafusa, N., Schelhaas, J., van Slegtenhorst, M., Miya, K., Guerrini, R., Tranebjærg, L., Tümer, Z., Rubboli, G. & Møller, R. S., Feb 2021, In: Epilepsy Research. 170, 106530.

    Research output: Contribution to journalJournal articleResearchpeer-review

    Open Access
    File
  • Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications

    Johannesen, K. M., Liu, Y., Koko, M., Gjerulfsen, C. E., Sonnenberg, L., Schubert, J., Fenger, C. D., Eltokhi, A., Rannap, M., Koch, N. A., Lauxmann, S., Krüger, J., Kegele, J., Canafoglia, L., Franceschetti, S., Mayer, T., Rebstock, J., Zacher, P., Ruf, S., Alber, M. & 108 others, Sterbova, K., Lassuthová, P., Vlckova, M., Lemke, J. R., Platzer, K., Krey, I., Heine, C., Wieczorek, D., Kroell-Seger, J., Lund, C., Klein, K. M., Billie Au, P. Y., Rho, J. M., Ho, A. W., Masnada, S., Veggiotti, P., Giordano, L., Accorsi, P., Hoei-Hansen, C. E., Striano, P., Zara, F., Verhelst, H., Verhoeven, J. S., van der Zwaag, B., Harder, A. V. E., Brilstra, E., Pendziwiat, M., Lebon, S., Vaccarezza, M., Minh Le, N., Christensen, J., Grønborg, S., Scherer, S. W., Howe, J., Fazeli, W., Howell, K. B., Leventer, R., Stutterd, C., Walsh, S., Gerard, M., Gerard, B., Matricardi, S., Bonardi, C. M., Sartori, S., Berger, A., Hoffman-Zacharska, D., Mastrangelo, M., Darra, F., Vøllo, A., Motazacker, M. M., Lakeman, P., Nizon, M., Betzler, C., Altuzarra, C., Caume, R., Roubertie, A., Gélisse, P., Marini, C., Guerrini, R., Bilan, F., Tibussek, D., Koch-Hogrebe, M., Perry, M. S., Ichikawa, S., Dadali, E., Sharkov, A., Mishina, I., Abramov, M., Kanivets, I., Korostelev, S., Kutsev, S., Wain, K. E., Eisenhauer, N., Wagner, M., Savatt, J. M., Müller-Schlüter, K., Bassan, H., Borovikov, A., Nassogne, M-C., Destrée, A., Schoonjans, A-S., Meuwissen, M., Buzatu, M., Jansen, A., Scalais, E., Srivastava, S., Tan, W-H., Olson, H. E., Loddenkemper, T., Poduri, A., Helbig, K. L., Helbig, I., Fitzgerald, M. P., Goldberg, E. M., Roser, T., Borggraefe, I., Brünger, T., May, P., Lal, D., Lederer, D., Rubboli, G., Heyne, H. O., Lesca, G., Hedrich, U. B. S., Benda, J., Gardella, E., Lerche, H. & Møller, R. S., 25. Aug 2021, (E-pub ahead of print) In: Brain : a journal of neurology.

    Research output: Contribution to journalJournal articleResearchpeer-review