Research ExplorerScientific StaffClaudia Schob Publications

Claudia Schob

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Publications

  1. 2024

  2. Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity

    Kalm, T., Schob, C., Völler, H., Gardeitchik, T., Gilissen, C., Pfundt, R., Klöckner, C., Platzer, K., Klabunde-Cherwon, A., Ries, M., Syrbe, S., Beccaria, F., Madia, F., Scala, M., Zara, F., Hofstede, F., Simon, M. E. H., van Jaarsveld, R. H., Oegema, R., van Gassen, K. L. I., Holwerda, S. J. B., Barakat, T. S., Bouman, A., van Slegtenhorst, M., Álvarez, S., Fernández-Jaén, A., Porta, J., Accogli, A., Mancardi, M. M., Striano, P., Iacomino, M., Chae, J-H., Jang, S., Kim, S. Y., Chitayat, D., Mercimek-Andrews, S., Depienne, C., Kampmeier, A., Kuechler, A., Surowy, H., Bertini, E. S., Radio, F. C., Mancini, C., Pizzi, S., Tartaglia, M., Gauthier, L., Genevieve, D., Tharreau, M., Azoulay, N., Zaks-Hoffer, G., Gilad, N. K., Orenstein, N., Bernard, G., Thiffault, I., Denecke, J., Herget, T., Kortüm, F., Kubisch, C., Bähring, R. & Kindler, S., 06.06.2024, In: AM J HUM GENET. 111, 6, p. 1206-1221 16 p.

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

  3. 2021

  4. KCND2 variants associated with global developmental delay differentially impair Kv4.2 channel gating

    Zhang, Y., Tachtsidis, G., Schob, C., Koko, M., Hedrich, U. B. S., Lerche, H., Lemke, J. R., van Haeringen, A., Ruivenkamp, C., Prescott, T., Tveten, K., Gerstner, T., Pruniski, B., DiTroia, S., VanNoy, G. E., Rehm, H. L., McLaughlin, H., Bolz, H. J., Zechner, U., Bryant, E., McDonough, T., Kindler, S. & Bähring, R., 16.11.2021, In: HUM MOL GENET. 30, 23, p. 2300-2314 15 p.

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

  5. Dominant KPNA3 Mutations Cause Infantile Onset Hereditary Spastic Paraplegia

    Schob, C., Hempel, M., Brozkova, D. S., Jiang, H., Kim, S. Y., Batzir, N. A., Orenstein, N., Bierhals, T., Johannsen, J., Meszarosova, A. U., Chae, J-H., Seeman, P., Woidy, M., Fang, F., Kubisch, C., Kindler, S. & Denecke, J., 11.2021, In: ANN NEUROL. 90, 5, p. 738-750 13 p.

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

  6. 2020

  7. Germline AGO2 mutations impair RNA interference and human neurological development

    Lessel, D., Zeitler, D. M., Reijnders, M. R. F., Kazantsev, A., Hassani Nia, F., Bartholomäus, A., Martens, V., Bruckmann, A., Graus, V., McConkie-Rosell, A., McDonald, M., Lozic, B., Tan, E-S., Gerkes, E., Johannsen, J., Denecke, J., Telegrafi, A., Zonneveld-Huijssoon, E., Lemmink, H. H., Cham, B. W. M., Kovacevic, T., Ramsdell, L., Foss, K., Le Duc, D., Mitter, D., Syrbe, S., Merkenschlager, A., Sinnema, M., Panis, B., Lazier, J., Osmond, M., Hartley, T., Mortreux, J., Busa, T., Missirian, C., Prasun, P., Lüttgen, S., Mannucci, I., Lessel, I., Schob, C., Kindler, S., Pappas, J., Rabin, R., Willemsen, M., Gardeitchik, T., Löhner, K., Rump, P., Dias, K-R., Evans, C-A., Andrews, P. I., Roscioli, T., Brunner, H. G., Chijiwa, C., Lewis, M. E. S., Jamra, R. A., Dyment, D. A., Boycott, K. M., Stegmann, A. P. A., Kubisch, C., Tan, E-C., Mirzaa, G. M., McWalter, K., Kleefstra, T., Pfundt, R., Ignatova, Z., Meister, G. & Kreienkamp, H-J., 16.11.2020, In: NAT COMMUN. 11, 1, p. 5797

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

  8. 2019

  9. Cognitive impairment and autistic-like behaviour in SAPAP4-deficient mice

    Schob, C., Morellini, F., Ohana, O., Bakota, L., Hrynchak, M. V., Brandt, R., Brockmann, M. D., Cichon, N., Hartung, H., Hanganu-Opatz, I. L., Kraus, V., Scharf, S., Herrmans-Borgmeyer, I., Schweizer, M., Kuhl, D., Wöhr, M., Vörckel, K. J., Calzada-Wack, J., Fuchs, H., Gailus-Durner, V., Hrabě de Angelis, M., Garner, C. C., Kreienkamp, H-J. & Kindler, S., 16.01.2019, In: TRANSL PSYCHIAT. 9, 1, p. 7

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

  10. 2017

  11. De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder

    Lessel, D., Schob, C., Küry, S., Reinders, M. R. F., Harel, T., Eldomery, M. K., Coban-Akdemir, Z., Denecke, J., Edvardson, S., Colin, E., Stegmann, A. P. A., Gerkes, E. H., Tessarech, M., Bonneau, D., Barth, M., Besnard, T., Cogné, B., Revah-Politi, A., Strom, T. M., Rosenfeld, J. A., Yang, Y., Posey, J. E., Immken, L., Oundjian, N., Helbig, K. L., Meeks, N., Zegar, K., Morton, J., DDD Study, Schieving, J. H., Claasen, A., Huentelman, M., Narayanan, V., Ramsey, K., Brunner, H. G., Elpeleg, O., Mercier, S., Bézieau, S., Kubisch, C., Kleefstra, T., Kindler, S., Lupski, J. R. & Kreienkamp, H-J., 02.11.2017, In: AM J HUM GENET. 101, 5, p. 716-724 9 p.

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

  12. 2016

  13. Shank3 Is Part of a Zinc-Sensitive Signaling System That Regulates Excitatory Synaptic Strength

    Arons, M. H., Lee, K., Thynne, C. J., Kim, S. A., Schob, C., Kindler, S., Montgomery, J. M. & Garner, C. C., 31.08.2016, In: J NEUROSCI. 36, 35, p. 9124-34 11 p.

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

  14. 2013

  15. Zellbasierte Therapieansätze in Mausmodellen für degenerative retinale Erkrankungen

    Flachsbarth, K., Jankowiak, W., Jung, G., Kruszewski, K., Schob, C., Richard, G. & Bartsch, U., 09.2013, Sonderband der deutschen ophthalmologischen Gesellschaft (DOG) - Spitzenforschung in der Ophthalmologie. ALPHA Informations-GmbH

    Research output: SCORING: Contribution to book/anthology › SCORING: Contribution to collected editions/anthologies › Research

  16. The RNA-binding protein MARTA2 regulates dendritic targeting of MAP2 mRNAs in rat neurons

    Zivraj, K. H., Rehbein, M., Ölschläger-Schütt, J., Schob, C., Falley, K., Buck, F., Schweizer, M., Schepis, A., Kremmer, E., Richter, D., Kreienkamp, H-J. & Kindler, S., 01.03.2013, In: J NEUROCHEM. 124, 5, p. 670-84 15 p.

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

  17. 2012

  18. Inositol-1,4,5-trisphosphate 3-kinase A regulates dendritic morphology and shapes synaptic Ca2+ transients.

    Windhorst, S., Minge, D., Bähring, R., Hüser, S., Schob, C., Blechner, C., Lin, H., Mayr, G. W. & Kindler, S., 2012, In: CELL SIGNAL. 24, 3, p. 750-757 3.

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

  19. Makorin ring zinc finger protein 1 (MKRN1), a novel poly(A)-binding protein-interacting protein, stimulates translation in nerve cells.

    Miroci, H., Schob, C., Kindler, S., Ölschläger-Schütt, J., Fehr, S., Jungenitz, T., Schwarzacher, S. W., Bagni, C. & Mohr, E., 2012, In: J BIOL CHEM. 287, 2, p. 1322-1334 2.

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

  20. Synthesis of two SAPAP3 isoforms from a single mRNA is mediated via alternative translational initiation.

    Chua, J. J. E., Schob, C., Rehbein, M., Gkogkas, C. G., Richter, D. & Kindler, S., 2012, In: SCI REP-UK. 2, p. 484

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

  21. 2009

  22. Mutations in TOPORS: a rare cause of autosomal dominant retinitis pigmentosa in continental Europe?

    Schob, C., Orth, U., Gal, A., Kindler, S., Chakarova, C. F., Bhattacharya, S. S. & Rüther, K., 2009, In: OPHTHALMIC GENET. 30, 2, p. 96-98 2.

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