Research ExplorerScientific StaffCornelia Rudolph Publications

Dr.rer.nat. ID: 74111

Cornelia Rudolph

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Publications

  1. 2024

  2. Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings

    Schmidt, A., Danyel, M., Grundmann, K., Brunet, T., Klinkhammer, H., Hsieh, T-C., Engels, H., Peters, S., Knaus, A., Moosa, S., Averdunk, L., Boschann, F., Sczakiel, H. L., Schwartzmann, S., Mensah, M. A., Pantel, J. T., Holtgrewe, M., Bösch, A., Weiß, C., Weinhold, N., Suter, A-A., Stoltenburg, C., Neugebauer, J., Kallinich, T., Kaindl, A. M., Holzhauer, S., Bührer, C., Bufler, P., Kornak, U., Ott, C-E., Schülke, M., Nguyen, H. H. P., Hoffjan, S., Grasemann, C., Rothoeft, T., Brinkmann, F., Matar, N., Sivalingam, S., Perne, C., Mangold, E., Kreiss, M., Cremer, K., Betz, R. C., Mücke, M., Grigull, L., Klockgether, T., Spier, I., Heimbach, A., Bender, T., Brand, F., Stieber, C., Morawiec, A. M., Karakostas, P., Schäfer, V. S., Bernsen, S., Weydt, P., Castro-Gomez, S., Aziz, A., Grobe-Einsler, M., Kimmich, O., Kobeleva, X., Önder, D., Lesmann, H., Kumar, S., Tacik, P., Basin, M. A., Incardona, P., Lee-Kirsch, M. A., Berner, R., Schuetz, C., Körholz, J., Kretschmer, T., Di Donato, N., Schröck, E., Heinen, A., Reuner, U., Hanßke, A-M., Kaiser, F. J., Manka, E., Munteanu, M., Kuechler, A., Cordula, K., Hirtz, R., Schlapakow, E., Schlein, C., Lisfeld, J., Kubisch, C., Herget, T., Hempel, M., Weiler-Normann, C., Ullrich, K., Schramm, C., Rudolph, C., Rillig, F., Groffmann, M., Muntau, A., Tibelius, A., Schwaibold, E. M. C., Schaaf, C. P., Zawada, M., Kaufmann, L., Hinderhofer, K., Okun, P. M., Kotzaeridou, U., Hoffmann, G. F., Choukair, D., Bettendorf, M., Spielmann, M., Ripke, A., Pauly, M., Münchau, A., Lohmann, K., Hüning, I., Hanker, B., Bäumer, T., Herzog, R., Hellenbroich, Y., Westphal, D. S., Strom, T., Kovacs, R., Riedhammer, K. M., Mayerhanser, K., Graf, E., Brugger, M., Hoefele, J., Oexle, K., Mirza-Schreiber, N., Berutti, R., Schatz, U., Krenn, M., Makowski, C., Weigand, H., Schröder, S., Rohlfs, M., Vill, K., Hauck, F., Borggraefe, I., Müller-Felber, W., Kurth, I., Elbracht, M., Knopp, C., Begemann, M., Kraft, F., Lemke, J. R., Hentschel, J., Platzer, K., Strehlow, V., Abou Jamra, R., Kehrer, M., Demidov, G., Beck-Wödl, S., Graessner, H., Sturm, M., Zeltner, L., Schöls, L. J., Magg, J., Bevot, A., Kehrer, C., Kaiser, N., Turro, E., Horn, D., Grüters-Kieslich, A., Klein, C., Mundlos, S., Nöthen, M., Riess, O., Meitinger, T., Krude, H., Krawitz, P. M., Haack, T., Ehmke, N. & Wagner, M., 08.2024, In: NAT GENET. 56, 8, p. 1644-1653 10 p.

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

  3. 2023

  4. Schindler disease type III: Clinical presentation of a patient carrying the homozygous missense variant c.973G > A (p.E325K) in the NAGA gene

    Förster, L., Tiede, S., Rudolph, C. & Muschol, N. M., 02.2023, In: MOL GENET METAB. 138, 2, 107104.

    Research output: SCORING: Contribution to journal › Conference abstract in journal › Research › peer-review

  5. 2022

  6. Promising Effect of High Dose Ambroxol Treatment on Neurocognition and Motor Development in a Patient With Neuropathic Gaucher Disease 2

    Aries, C., Lohmöller, B., Tiede, S., Täuber, K., Hartmann, G., Rudolph, C. & Muschol, N. M., 06.06.2022, In: FRONT NEUROL. 13, p. 907317

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

  7. Combination of high-dose ambroxol and ERT in Gaucher disease type 2: A nearly age-appropriate neurocognitive and motor development after three years of treatment

    Aries, C., Lohmöller, B., Tiede, S., Täuber, K., Rudolph, C. & Muschol, N., 02.2022, In: MOL GENET METAB. 135, 2, S19.

    Research output: SCORING: Contribution to journal › Conference abstract in journal › Research › peer-review

  8. 2020

  9. Hematopoietic stem cell transplantation in mucopolysaccharidosis type IIIA: A case description and comparison with a genotype-matched control group

    Köhn, A. F., Grigull, L., du Moulin, M., Kabisch, S., Ammer, L., Rudolph, C. & Muschol, N. M., 06.2020, In: MOL GENET METAB REP. 23, p. 100578

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