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37 Publications

2020 | Journal Article | IST-REx-ID: 7149
Avagliano, Laura, Ilaria Parenti, Paolo Grazioli, Elisabetta Di Fede, Chiara Parodi, Milena Mariani, Frank J. Kaiser, Angelo Selicorni, Cristina Gervasini, and Valentina Massa. “Chromatinopathies: A Focus on Cornelia de Lange Syndrome.” Clinical Genetics 97, no. 1 (2020): 3–11. https://doi.org/10.1111/cge.13674.
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2020 | Journal Article | IST-REx-ID: 7488 | OA
Latorre-Pellicer, Ana, Ángela Ascaso, Laura Trujillano, Marta Gil-Salvador, Maria Arnedo, Cristina Lucia-Campos, Rebeca Antoñanzas-Pérez, et al. “Evaluating Face2Gene as a Tool to Identify Cornelia de Lange Syndrome by Facial Phenotypes.” International Journal of Molecular Sciences 21, no. 3 (2020). https://doi.org/10.3390/ijms21031042.
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2020 | Journal Article | IST-REx-ID: 7586 | OA
Weinert, Stefanie, Niclas Gimber, Dorothea Deuschel, Till Stuhlmann, Dmytro Puchkov, Zohreh Farsi, Carmen F. Ludwig, et al. “Uncoupling Endosomal CLC Chloride/Proton Exchange Causes Severe Neurodegeneration.” EMBO Journal, n.d. https://doi.org/10.15252/embj.2019103358.
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2020 | Preprint | IST-REx-ID: 7800 | OA
Morandell, Jasmin, Lena A Schwarz, Bernadette Basilico, Saren Tasciyan, Armel Nicolas, Christoph M Sommer, Caroline Kreuzinger, et al. “Cul3 Regulates Cytoskeleton Protein Homeostasis and Cell Migration during a Critical Window of Brain Development.” BioRxiv. Cold Spring Harbor Laboratory, n.d.
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2020 | Journal Article | IST-REx-ID: 7877 | OA
Parenti, Ilaria, Farah Diab, Sara Ruiz Gil, Eskeatnaf Mulugeta, Valentina Casa, Riccardo Berutti, Rutger W.W. Brouwer, et al. “MAU2 and NIPBL Variants Impair the Heterodimerization of the Cohesin Loader Subunits and Cause Cornelia de Lange Syndrome.” Cell Reports 31, no. 7 (2020). https://doi.org/10.1016/j.celrep.2020.107647.
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2020 | Journal Article | IST-REx-ID: 7957 | OA
Parenti, Ilaria, Luis E Garcia Rabaneda, Hanna Schön, and Gaia Novarino. “Neurodevelopmental Disorders: From Genetics to Functional Pathways.” Trends in Neurosciences, n.d. https://doi.org/10.1016/j.tins.2020.05.004.
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2020 | Journal Article | IST-REx-ID: 8131 | OA
Basilico, Bernadette, Jasmin Morandell, and Gaia Novarino. “Molecular Mechanisms for Targeted ASD Treatments.” Current Opinion in Genetics and Development 65, no. 12 (2020): 126–37. https://doi.org/10.1016/j.gde.2020.06.004.
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2019 | Journal Article | IST-REx-ID: 7414
Knaus, Lisa, Dora-Clara Tarlungeanu, and Gaia Novarino. “S.16.03 A Homozygous Missense Mutation in SLC7A5 Leads to Autism Spectrum Disorder and Microcephaly.” European Neuropsychopharmacology 29, no. Supplement 6 (2019): S11. https://doi.org/10.1016/j.euroneuro.2019.09.039.
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2019 | Journal Article | IST-REx-ID: 7415
Morandell, Jasmin, Armel Nicolas, Lena A Schwarz, and Gaia Novarino. “S.16.05 Illuminating the Role of the E3 Ubiquitin Ligase Cullin3 in Brain Development and Autism.” European Neuropsychopharmacology 29, no. Supplement 6 (2019): S11–12. https://doi.org/10.1016/j.euroneuro.2019.09.040.
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2019 | Journal Article | IST-REx-ID: 6088
Traxl, Alexander, Severin Mairinger, Thomas Filip, Michael Sauberer, Johann Stanek, Stefan Poschner, Walter Jäger, et al. “Inhibition of ABCB1 and ABCG2 at the Mouse Blood-Brain Barrier with Marketed Drugs to Improve Brain Delivery of the Model ABCB1/ABCG2 Substrate [11C]Erlotinib.” Molecular Pharmaceutics 16, no. 3 (2019): 1282–93. https://doi.org/10.1021/acs.molpharmaceut.8b01217.
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2019 | Journal Article | IST-REx-ID: 6470
Éltes, Tímea, Miklos Szoboszlay, Margit Katalin Szigeti, and Zoltan Nusser. “Improved Spike Inference Accuracy by Estimating the Peak Amplitude of Unitary [Ca2+] Transients in Weakly GCaMP6f-Expressing Hippocampal Pyramidal Cells.” Journal of Physiology 597, no. 11 (2019): 2925–2947. https://doi.org/10.1113/JP277681.
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2019 | Journal Article | IST-REx-ID: 105
Marsh, Ashley, Gaia Novarino, Paul Lockhart, and Richard Leventer. “CUGC for Pontocerebellar Hypoplasia Type 9 and Spastic Paraplegia-63.” European Journal of Human Genetics 27 (2019): 161–66. https://doi.org/10.1038/s41431-018-0231-2.
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2019 | Journal Article | IST-REx-ID: 6896
Oliveira, Bárbara, Aysan Çerağ Yahya, and Gaia Novarino. “Modeling Cell-Cell Interactions in the Brain Using Cerebral Organoids.” Brain Research 1724 (2019). https://doi.org/10.1016/j.brainres.2019.146458.
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2018 | Thesis | IST-REx-ID: 395 | OA
Tarlungeanu, Dora-Clara. The Branched Chain Amino Acids in Autism Spectrum Disorders . IST Austria, 2018. https://doi.org/10.15479/AT:ISTA:th_992.
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2018 | Journal Article | IST-REx-ID: 456
Novarino, Gaia. “Zika-Associated Microcephaly: Reduce the Stress and Race for the Treatment.” Science Translational Medicine 10, no. 423 (2018). https://doi.org/10.1126/scitranslmed.aar7514.
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2018 | Journal Article | IST-REx-ID: 546
Sacco, Roberto, Emanuele Cacci, and Gaia Novarino. “Neural Stem Cells in Neuropsychiatric Disorders.” Current Opinion in Neurobiology 48, no. 2 (2018): 131–38. https://doi.org/10.1016/j.conb.2017.12.005.
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2018 | Journal Article | IST-REx-ID: 5888 | OA
Tarlungeanu, Dora-Clara, and Gaia Novarino. “Genomics in Neurodevelopmental Disorders: An Avenue to Personalized Medicine.” Experimental & Molecular Medicine 50, no. 8 (2018). https://doi.org/10.1038/s12276-018-0129-7.
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2018 | Journal Article | IST-REx-ID: 3 | OA
Deliu, Elena, Niccoló Arecco, Jasmin Morandell, Christoph Dotter, Ximena Contreras, Charles Girardot, Eva Käsper, et al. “Haploinsufficiency of the Intellectual Disability Gene SETD5 Disturbs Developmental Gene Expression and Cognition.” Nature Neuroscience 21, no. 12 (2018): 1717–27. https://doi.org/10.1038/s41593-018-0266-2.
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2018 | Journal Article | IST-REx-ID: 691 | OA
Marin Valencia, Isaac, Gaia Novarino, Anide Johansen, Başak Rosti, Mahmoud Issa, Damir Musaev, Gifty Bhat, et al. “A Homozygous Founder Mutation in TRAPPC6B Associates with a Neurodevelopmental Disorder Characterised by Microcephaly Epilepsy and Autistic Features.” Journal of Medical Genetics 55, no. 1 (2018): 48–54. https://doi.org/10.1136/jmedgenet-2017-104627.
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2017 | Journal Article | IST-REx-ID: 713 | OA
Andergassen, Daniel, Christoph Dotter, Dyniel Wenzel, Verena Sigl, Philipp Bammer, Markus Muckenhuber, Daniela Mayer, et al. “Mapping the Mouse Allelome Reveals Tissue Specific Regulation of Allelic Expression.” ELife 6 (2017). https://doi.org/10.7554/eLife.25125.
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