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Sabine Grønborg

20142023

Research activity per year

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Personal profile

Expertises

Neuropediatrics; Rare Diseases; Neurometabolic Diseases; Leukoencephalopathies; Genetic Diseases

Main research areas

Neurometabolic Diseases; Leukoencephalopathies; Peroxisomal Diseases

Current research

see above

Potential conflicts of interest

none

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Collaborations and top research areas from the last five years

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  • 25 Journal article
  • 2 Review
  • 1 Other contribution

  • Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature

    Peluso, F., Caraffi, S. G., Contrò, G., Valeri, L., Napoli, M., Carboni, G., Seth, A., Zuntini, R., Coccia, E., Astrea, G., Bisgaard, A-M., Ivanovski, I., Maitz, S., Brischoux-Boucher, E., Carter, M. T., Dentici, M. L., Devriendt, K., Bellini, M., Digilio, M. C., Doja, A., & 45 othersDyment, D. A., Farholt, S., Ferreira, C. R., Wolfe, L. A., Gahl, W. A., Gnazzo, M., Goel, H., Grønborg, S. W., Hammer, T., Iughetti, L., Kleefstra, T., Koolen, D. A., Lepri, F. R., Lemire, G., Louro, P., McCullagh, G., Madeo, S. F., Milone, A., Milone, R., Nielsen, J. E. K., Novelli, A., Ockeloen, C. W., Pascarella, R., Pippucci, T., Ricca, I., Robertson, S. P., Sawyer, S., Falkenberg Smeland, M., Stegmann, S., Stumpel, C. T., Goel, A., Taylor, J. M., Barbuti, D., Soresina, A., Bedeschi, M. F., Battini, R., Cavalli, A., Fusco, C., Iascone, M., Van Maldergem, L., Venkateswaran, S., Zuffardi, O., Vergano, S., Garavelli, L. & Bayat, A., 16 Aug 2023, (E-pub ahead of print) In: Journal of Medical Genetics. jmg-2023-109141.

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

  • Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease

    Amarasekera, S. S. C., Hock, D. H., Lake, N. J., Calvo, S. E., Grønborg, S. W., Krzesinski, E. I., Amor, D. J., Fahey, M. C., Simons, C., Wibrand, F., Mootha, V. K., Lek, M., Lunke, S., Stark, Z., Østergaard, E., Christodoulou, J., Thorburn, D. R., Stroud, D. A. & Compton, A. G., 20 Jul 2023, In: Human Molecular Genetics. 32, 15, p. 2441-2454 14 p.

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

    2 Citations (Scopus)

  • X-linked creatine transporter (SLC6A8) deficiency in females: Difficult to recognize, but a potentially treatable disease

    Mejdahl Nielsen, M., Petersen, E. T., Fenger, C. D., Ørngreen, M. C., Siebner, H. R., Boer, V. O., Považan, M., Lund, A., Grønborg, S. W. & Hammer, T. B., 30 Aug 2023, (E-pub ahead of print) In: Molecular Genetics and Metabolism. 140, 3, p. 107694

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

  • Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement

    Kaiyrzhanov, R., Mohammed, S. E. M., Maroofian, R., Husain, R. A., Catania, A., Torraco, A., Alahmad, A., Dutra-Clarke, M., Grønborg, S., Sudarsanam, A., Vogt, J., Arrigoni, F., Baptista, J., Haider, S., Feichtinger, R. G., Bernardi, P., Zulian, A., Gusic, M., Efthymiou, S., Bai, R., & 34 othersBibi, F., Horga, A., Martinez-Agosto, J. A., Lam, A., Manole, A., Rodriguez, D-P., Durigon, R., Pyle, A., Albash, B., Dionisi-Vici, C., Murphy, D., Martinelli, D., Bugiardini, E., Allis, K., Lamperti, C., Reipert, S., Risom, L., Laugwitz, L., Di Nottia, M., McFarland, R., Vilarinho, L., Hanna, M., Prokisch, H., Mayr, J. A., Bertini, E. S., Ghezzi, D., Østergaard, E., Wortmann, S. B., Carrozzo, R., Haack, T. B., Taylor, R. W., Spinazzola, A., Nowikovsky, K. & Houlden, H., 1 Sep 2022, In: American Journal of Human Genetics. 109, 9, p. 1692-1712 21 p.

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

  • 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 othersSterbova, 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., 14 Sep 2022, In: Brain. 145, 9, p. 2991-3009 19 p.

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

View all 28 research outputs