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38 Publications

2020 | Journal Article | IST-REx-ID: 7488 | OA
Latorre-Pellicer, A., Ascaso, Á., Trujillano, L., Gil-Salvador, M., Arnedo, M., Lucia-Campos, C., … Pié, J. (2020). Evaluating Face2Gene as a tool to identify Cornelia de Lange syndrome by facial phenotypes. International Journal of Molecular Sciences, 21(3). https://doi.org/10.3390/ijms21031042
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2020 | Journal Article | IST-REx-ID: 7586 | OA
Weinert, S., Gimber, N., Deuschel, D., Stuhlmann, T., Puchkov, D., Farsi, Z., … Jentsch, T. J. (n.d.). Uncoupling endosomal CLC chloride/proton exchange causes severe neurodegeneration. EMBO Journal. https://doi.org/10.15252/embj.2019103358
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2020 | Journal Article | IST-REx-ID: 7877 | OA
Parenti, I., Diab, F., Gil, S. R., Mulugeta, E., Casa, V., Berutti, R., … Wendt, K. S. (2020). MAU2 and NIPBL variants impair the heterodimerization of the cohesin loader subunits and cause Cornelia de Lange syndrome. Cell Reports, 31(7). https://doi.org/10.1016/j.celrep.2020.107647
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2020 | Journal Article | IST-REx-ID: 7957 | OA
Parenti, I., Garcia Rabaneda, L. E., Schön, H., & Novarino, G. (n.d.). Neurodevelopmental disorders: From genetics to functional pathways. Trends in Neurosciences. https://doi.org/10.1016/j.tins.2020.05.004
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2020 | Journal Article | IST-REx-ID: 7149 | OA
Avagliano, L., Parenti, I., Grazioli, P., Di Fede, E., Parodi, C., Mariani, M., … Massa, V. (2020). Chromatinopathies: A focus on Cornelia de Lange syndrome. Clinical Genetics, 97(1), 3–11. https://doi.org/10.1111/cge.13674
View | DOI | Download Published Version (ext.) | PubMed | Europe PMC
 
2020 | Thesis | IST-REx-ID: 8620
Morandell, J. (2020). Illuminating the role of Cul3 in autism spectrum disorder pathogenesis. IST Austria. https://doi.org/10.15479/AT:ISTA:8620
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2020 | Preprint | IST-REx-ID: 7800 | OA
Morandell, J., Schwarz, L. A., Basilico, B., Tasciyan, S., Nicolas, A., Sommer, C. M., … Novarino, G. (n.d.). Cul3 regulates cytoskeleton protein homeostasis and cell migration during a critical window of brain development. BioRxiv. Cold Spring Harbor Laboratory.
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2020 | Journal Article | IST-REx-ID: 8131 | OA
Basilico, B., Morandell, J., & Novarino, G. (2020). Molecular mechanisms for targeted ASD treatments. Current Opinion in Genetics and Development, 65(12), 126–137. https://doi.org/10.1016/j.gde.2020.06.004
View | Files available | DOI | PubMed | Europe PMC
 
2019 | Journal Article | IST-REx-ID: 7414
Knaus, L., Tarlungeanu, D.-C., & Novarino, G. (2019). S.16.03 A homozygous missense mutation in SLC7A5 leads to autism spectrum disorder and microcephaly. European Neuropsychopharmacology, 29(Supplement 6), S11. https://doi.org/10.1016/j.euroneuro.2019.09.039
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2019 | Journal Article | IST-REx-ID: 7415
Morandell, J., Nicolas, A., Schwarz, L. A., & Novarino, G. (2019). S.16.05 Illuminating the role of the e3 ubiquitin ligase cullin3 in brain development and autism. European Neuropsychopharmacology, 29(Supplement 6), S11–S12. https://doi.org/10.1016/j.euroneuro.2019.09.040
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