Please note that LibreCat no longer supports Internet Explorer versions 8 or 9 (or earlier).

We recommend upgrading to the latest Internet Explorer, Google Chrome, or Firefox.




39 Publications

2020 | Journal Article | IST-REx-ID: 7488 | OA
Latorre-Pellicer, Ana, et al. “Evaluating Face2Gene as a Tool to Identify Cornelia de Lange Syndrome by Facial Phenotypes.” International Journal of Molecular Sciences, vol. 21, no. 3, 1042, MDPI, 2020, doi:10.3390/ijms21031042.
View | Files available | DOI
 
2020 | Journal Article | IST-REx-ID: 7586 | OA
Weinert, Stefanie, et al. “Uncoupling Endosomal CLC Chloride/Proton Exchange Causes Severe Neurodegeneration.” EMBO Journal, e103358, EMBO Press, doi:10.15252/embj.2019103358.
View | Files available | DOI
 
2020 | Journal Article | IST-REx-ID: 7877 | OA
Parenti, Ilaria, et al. “MAU2 and NIPBL Variants Impair the Heterodimerization of the Cohesin Loader Subunits and Cause Cornelia de Lange Syndrome.” Cell Reports, vol. 31, no. 7, 107647, Elsevier, 2020, doi:10.1016/j.celrep.2020.107647.
View | Files available | DOI
 
2020 | Journal Article | IST-REx-ID: 7957 | OA
Parenti, Ilaria, et al. “Neurodevelopmental Disorders: From Genetics to Functional Pathways.” Trends in Neurosciences, Elsevier, doi:10.1016/j.tins.2020.05.004.
View | DOI | Download Published Version (ext.)
 
2020 | Journal Article | IST-REx-ID: 7149 | OA
Avagliano, Laura, et al. “Chromatinopathies: A Focus on Cornelia de Lange Syndrome.” Clinical Genetics, vol. 97, no. 1, Wiley, 2020, pp. 3–11, doi:10.1111/cge.13674.
View | DOI | Download Published Version (ext.) | PubMed | Europe PMC
 
2020 | Thesis | IST-REx-ID: 8620
Morandell, Jasmin. Illuminating the Role of Cul3 in Autism Spectrum Disorder Pathogenesis. IST Austria, 2020, doi:10.15479/AT:ISTA:8620.
View | Files available | DOI
 
2020 | Preprint | IST-REx-ID: 7800 | OA
Morandell, Jasmin, et al. “Cul3 Regulates Cytoskeleton Protein Homeostasis and Cell Migration during a Critical Window of Brain Development.” BioRxiv, Cold Spring Harbor Laboratory.
View | Files available | Download Preprint (ext.)
 
2020 | Journal Article | IST-REx-ID: 8131 | OA
Basilico, Bernadette, et al. “Molecular Mechanisms for Targeted ASD Treatments.” Current Opinion in Genetics and Development, vol. 65, no. 12, Elsevier, 2020, pp. 126–37, doi:10.1016/j.gde.2020.06.004.
View | Files available | DOI | PubMed | Europe PMC
 
2019 | Journal Article | IST-REx-ID: 7414
Knaus, Lisa, et al. “S.16.03 A Homozygous Missense Mutation in SLC7A5 Leads to Autism Spectrum Disorder and Microcephaly.” European Neuropsychopharmacology, vol. 29, no. Supplement 6, Elsevier, 2019, p. S11, doi:10.1016/j.euroneuro.2019.09.039.
View | DOI
 
2019 | Journal Article | IST-REx-ID: 7415
Morandell, Jasmin, et al. “S.16.05 Illuminating the Role of the E3 Ubiquitin Ligase Cullin3 in Brain Development and Autism.” European Neuropsychopharmacology, vol. 29, no. Supplement 6, Elsevier, 2019, pp. S11–12, doi:10.1016/j.euroneuro.2019.09.040.
View | DOI
 
2019 | Research Data | IST-REx-ID: 6074 | OA
Dotter, Christoph, and Gaia Novarino. Supplementary Data for the Research Paper “Haploinsufficiency of the Intellectual Disability Gene SETD5 Disturbs Developmental Gene Expression and Cognition.” IST Austria, 2019, doi:10.15479/AT:ISTA:6074.
View | Files available | DOI
 
2019 | Journal Article | IST-REx-ID: 6088
Traxl, Alexander, 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, vol. 16, no. 3, ACS Publications, 2019, pp. 1282–93, doi:10.1021/acs.molpharmaceut.8b01217.
View | DOI | PubMed | Europe PMC
 
2019 | Journal Article | IST-REx-ID: 6896
Oliveira, Bárbara, et al. “Modeling Cell-Cell Interactions in the Brain Using Cerebral Organoids.” Brain Research, vol. 1724, 146458, Elsevier, 2019, doi:10.1016/j.brainres.2019.146458.
View | DOI | PubMed | Europe PMC
 
2019 | Journal Article | IST-REx-ID: 6470 | OA
Éltes, Tímea, et al. “Improved Spike Inference Accuracy by Estimating the Peak Amplitude of Unitary [Ca2+] Transients in Weakly GCaMP6f-Expressing Hippocampal Pyramidal Cells.” Journal of Physiology, vol. 597, no. 11, Wiley, 2019, pp. 2925–2947, doi:10.1113/JP277681.
View | DOI | Download Published Version (ext.) | PubMed | Europe PMC
 
2019 | Journal Article | IST-REx-ID: 105 | OA
Marsh, Ashley, et al. “CUGC for Pontocerebellar Hypoplasia Type 9 and Spastic Paraplegia-63.” European Journal of Human Genetics, vol. 27, Springer Nature, 2019, pp. 161–66, doi:10.1038/s41431-018-0231-2.
View | DOI | Download Published Version (ext.) | PubMed | Europe PMC
 
2018 | Thesis | IST-REx-ID: 395 | OA
Tarlungeanu, Dora-Clara. The Branched Chain Amino Acids in Autism Spectrum Disorders . IST Austria, 2018, doi:10.15479/AT:ISTA:th_992.
View | Files available | DOI
 
2018 | Journal Article | IST-REx-ID: 456
Novarino, Gaia. “Zika-Associated Microcephaly: Reduce the Stress and Race for the Treatment.” Science Translational Medicine, vol. 10, no. 423, eaar7514, American Association for the Advancement of Science, 2018, doi:10.1126/scitranslmed.aar7514.
View | DOI
 
2018 | Journal Article | IST-REx-ID: 546
Sacco, Roberto, et al. “Neural Stem Cells in Neuropsychiatric Disorders.” Current Opinion in Neurobiology, vol. 48, no. 2, Elsevier, 2018, pp. 131–38, doi:10.1016/j.conb.2017.12.005.
View | DOI
 
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, vol. 50, no. 8, 100, Springer Nature, 2018, doi:10.1038/s12276-018-0129-7.
View | Files available | DOI | PubMed | Europe PMC
 
2018 | Journal Article | IST-REx-ID: 3 | OA
Deliu, Elena, et al. “Haploinsufficiency of the Intellectual Disability Gene SETD5 Disturbs Developmental Gene Expression and Cognition.” Nature Neuroscience, vol. 21, no. 12, Nature Publishing Group, 2018, pp. 1717–27, doi:10.1038/s41593-018-0266-2.
View | Files available | DOI
 

Search

Display / Sort

Citation Style: MLA

Export / Embed