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Xu J, Liu N, Polemiti E, et al. Effects of urban living environments on mental health in adults. Nature Medicine. 2023;29:1456-1467. doi:10.1038/s41591-023-02365-w
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DOI: 10.1038/s41591-023-02365-w
WoS: 001013172700001

Narzisi A, Halladay A, Masi G, Novarino G, Lord C. Tempering expectations: Considerations on the current state of stem cells therapy for autism treatment. Frontiers in Psychiatry. 2023;14. doi:10.3389/fpsyt.2023.1287879
LibreCat: https://research-explorer.ista.ac.at/record/14455
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PMID: 37854442

Velicky P, Miguel Villalba E, Michalska JM, et al. Dense 4D nanoscale reconstruction of living brain tissue. Nature Methods. 2023;20:1256-1265. doi:10.1038/s41592-023-01936-6
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PMID: 37429995

Knaus L, Basilico B, Malzl D, et al. Large neutral amino acid levels tune perinatal neuronal excitability and survival. Cell. 2023;186(9):1950-1967.e25. doi:10.1016/j.cell.2023.02.037
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DOI: 10.1016/j.cell.2023.02.037
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Michalska JM, Lyudchik J, Velicky P, et al. Imaging brain tissue architecture across millimeter to nanometer scales. Nature Biotechnology. 2023. doi:10.1038/s41587-023-01911-8
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DOI: 10.1038/s41587-023-01911-8
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Guerrini R, Mei D, Szigeti MK, et al. Phenotypic and genetic spectrum of ATA encephalopathy: A disorder of lysosomal homeostasis. Brain. 2022;145(8):2687-2703. doi:10.1093/brain/awac145
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Villa CE, Cheroni C, Dotter C, et al. CH haploinsufficiency links autism to transient alterations in excitatory and inhibitory trajectories. Cell Reports. 2022;39(1). doi:10.1016/j.celrep.2022.110615
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DOI: 10.1016/j.celrep.2022.110615
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PMID: 35385734

Velicky P, Miguel Villalba E, Michalska JM, et al. Saturated reconstruction of living brain tissue. bioRxiv. doi:10.1101/2022.03.16.484431
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DOI: 10.1101/2022.03.16.484431

Michalska JM, Lyudchik J, Velicky P, et al. Uncovering brain tissue architecture across scales with super-resolution light microscopy. bioRxiv. doi:10.1101/2022.08.17.504272
LibreCat: https://research-explorer.ista.ac.at/record/11950
DOI: 10.1101/2022.08.17.504272

Vasic V, Jones MSO, Haslinger D, et al. Translating the role of mtor-and ras-associated signalopathies in autism spectrum disorder: Models, mechanisms and treatment. Genes. 2021;12(11). doi:10.3390/genes12111746
LibreCat: https://research-explorer.ista.ac.at/record/10281
DOI: 10.3390/genes12111746
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Tournier N, Goutal S, Mairinger S, et al. Complete inhibition of ABC and ABC at the blood-brain barrier by co-infusion of erlotinib and tariquidar to improve brain delivery of the model ABC/ABC substrate [11C]erlotinib. Journal of Cerebral Blood Flow and Metabolism. 2021;41(7):1634-1646. doi:10.1177/0271678X20965500
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DOI: 10.1177/0271678X20965500
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PMID: 33081568

Morandell J, Schwarz LA, Basilico B, et al. Cul3 regulates cytoskeleton protein homeostasis and cell migration during a critical window of brain development. Nature Communications. 2021;12(1). doi:10.1038/s41467-021-23123-x
LibreCat: https://research-explorer.ista.ac.at/record/9429
DOI: 10.1038/s41467-021-23123-x
WoS: 000658769900010

Weinert S, Gimber N, Deuschel D, et al. Uncoupling endosomal CLC chloride/proton exchange causes severe neurodegeneration. EMBO Journal. 2020;39. doi:10.15252/embj.2019103358
LibreCat: https://research-explorer.ista.ac.at/record/7586
DOI: 10.15252/embj.2019103358
WoS: 000517335000001
PMID: 32118314

Parenti I, Garcia Rabaneda LE, Schön H, Novarino G. Neurodevelopmental disorders: From genetics to functional pathways. Trends in Neurosciences. 2020;43(8):608-621. doi:10.1016/j.tins.2020.05.004
LibreCat: https://research-explorer.ista.ac.at/record/7957
DOI: 10.1016/j.tins.2020.05.004
WoS: 000553090600008
PMID: 32507511

Morandell J, Schwarz LA, Basilico B, et al. Cul3 regulates cytoskeleton protein homeostasis and cell migration during a critical window of brain development. bioRxiv. doi:10.1101/2020.01.10.902064 
LibreCat: https://research-explorer.ista.ac.at/record/7800
DOI: 10.1101/2020.01.10.902064 

Basilico B, Morandell J, Novarino G. Molecular mechanisms for targeted ASD treatments. Current Opinion in Genetics and Development. 2020;65(12):126-137. doi:10.1016/j.gde.2020.06.004
LibreCat: https://research-explorer.ista.ac.at/record/8131
DOI: 10.1016/j.gde.2020.06.004
WoS: 000598918900019
PMID: 32659636

Marsh A, Novarino G, Lockhart P, Leventer R. CUGC for pontocerebellar hypoplasia type 9 and spastic paraplegia-63. European Journal of Human Genetics. 2019;27:161-166. doi:10.1038/s41431-018-0231-2
LibreCat: https://research-explorer.ista.ac.at/record/105
DOI: 10.1038/s41431-018-0231-2
WoS: 000454111500019
PMID: 30089829

Traxl A, Mairinger S, Filip T, et al. Inhibition of ABC and ABC at the mouse blood-brain barrier with marketed drugs to improve brain delivery of the model ABC/ABC substrate [11C]erlotinib. Molecular Pharmaceutics. 2019;16(3):1282-1293. doi:10.1021/acs.molpharmaceut.8b01217
LibreCat: https://research-explorer.ista.ac.at/record/6088
DOI: 10.1021/acs.molpharmaceut.8b01217
WoS: 000460600400031
PMID: 30694684

Oliveira B, Yahya AÇ, Novarino G. Modeling cell-cell interactions in the brain using cerebral organoids. Brain Research. 2019;1724. doi:10.1016/j.brainres.2019.146458
LibreCat: https://research-explorer.ista.ac.at/record/6896
DOI: 10.1016/j.brainres.2019.146458
WoS: 000491646600033
PMID: 31521639

Morandell J, Nicolas A, Schwarz LA, Novarino G. S.16.05 Illuminating the role of the e3 ubiquitin ligase cullin3 in brain development and autism. European Neuropsychopharmacology. 2019;29(Supplement 6):-. doi:10.1016/j.euroneuro.2019.09.040
LibreCat: https://research-explorer.ista.ac.at/record/7415
DOI: 10.1016/j.euroneuro.2019.09.040
WoS: 000502657500021

Knaus L, Tarlungeanu D-C, Novarino G. S.16.03 A homozygous missense mutation in SL leads to autism spectrum disorder and microcephaly. European Neuropsychopharmacology. 2019;29(Supplement 6):. doi:10.1016/j.euroneuro.2019.09.039
LibreCat: https://research-explorer.ista.ac.at/record/7414
DOI: 10.1016/j.euroneuro.2019.09.039
WoS: 000502657500020

Dotter C, Novarino G. Supplementary data for the research paper “Haploinsufficiency of the intellectual disability gene SET disturbs developmental gene expression and cognition.”10.15479/AT:ISTA:6074__2019. doi:10.15479/AT:ISTA:6074
LibreCat: https://research-explorer.ista.ac.at/record/6074
DOI: 10.15479/AT:ISTA:6074

Novarino G. Zika-associated microcephaly: Reduce the stress and race for the treatment. Science Translational Medicine. 2018;10(423). doi:10.1126/scitranslmed.aar7514
LibreCat: https://research-explorer.ista.ac.at/record/456
DOI: 10.1126/scitranslmed.aar7514

Tarlungeanu D-C, Novarino G. Genomics in neurodevelopmental disorders: an avenue to personalized medicine. Experimental &; Molecular Medicine. 2018;50(8). doi:10.1038/s12276-018-0129-7
LibreCat: https://research-explorer.ista.ac.at/record/5888
DOI: 10.1038/s12276-018-0129-7
WoS: 000441266700006
PMID: 30089840

Sacco R, Cacci E, Novarino G. Neural stem cells in neuropsychiatric disorders. Current Opinion in Neurobiology. 2018;48(2):131-138. doi:10.1016/j.conb.2017.12.005
LibreCat: https://research-explorer.ista.ac.at/record/546
DOI: 10.1016/j.conb.2017.12.005
WoS: 000427101600018

Marin Valencia I, Novarino G, Johansen A, et al. A homozygous founder mutation in TRAPPB associates with a neurodevelopmental disorder characterised by microcephaly epilepsy and autistic features. Journal of Medical Genetics. 2018;55(1):48-54. doi:10.1136/jmedgenet-2017-104627
LibreCat: https://research-explorer.ista.ac.at/record/691
DOI: 10.1136/jmedgenet-2017-104627
WoS: 000418199800007
PMID: 28626029

Deliu E, Arecco N, Morandell J, et al. Haploinsufficiency of the intellectual disability gene SET disturbs developmental gene expression and cognition. Nature Neuroscience. 2018;21(12):1717-1727. doi:10.1038/s41593-018-0266-2
LibreCat: https://research-explorer.ista.ac.at/record/3
DOI: 10.1038/s41593-018-0266-2
WoS: 000451324700010

Hill Yardin E, Mckeown S, Novarino G, Grabrucker A. Extracerebral dysfunction in animal models of autism spectrum disorder. In: Schmeisser M, Boekers T, eds. Translational Anatomy and Cell Biology of Autism Spectrum Disorder. Vol 224. Advances in Anatomy Embryology and Cell Biology. Springer; 2017:159-187. doi:10.1007/978-3-319-52498-6_9
LibreCat: https://research-explorer.ista.ac.at/record/623
DOI: 10.1007/978-3-319-52498-6_9

Schroeder J, Deliu E, Novarino G, Schmeisser M. Genetic and pharmacological reversibility of phenotypes in mouse models of autism spectrum disorder. In: Schmeisser M, Boekers T, eds. Translational Anatomy and Cell Biology of Autism Spectrum Disorder. Vol 224. Advances in Anatomy Embryology and Cell Biology. Springer; 2017:189-211. doi:10.1007/978-3-319-52498-6_10
LibreCat: https://research-explorer.ista.ac.at/record/634
DOI: 10.1007/978-3-319-52498-6_10

Novarino G. Modeling Alzheimer’s disease in mice with human neurons. Science Translational Medicine. 2017;9(381). doi:10.1126/scitranslmed.aam9867
LibreCat: https://research-explorer.ista.ac.at/record/656
DOI: 10.1126/scitranslmed.aam9867

Novarino G. The antisocial side of antibiotics. Science Translational Medicine. 2017;9(387). doi:10.1126/scitranslmed.aan2786
LibreCat: https://research-explorer.ista.ac.at/record/667
DOI: 10.1126/scitranslmed.aan2786

Novarino G. Rett syndrome modeling goes simian. Science Translational Medicine. 2017;9(393). doi:10.1126/scitranslmed.aan8196
LibreCat: https://research-explorer.ista.ac.at/record/689
DOI: 10.1126/scitranslmed.aan8196

Novarino G. The riddle of CH haploinsufficiency in autism spectrum disorder. Science Translational Medicine. 2017;9(399):eaao0972. doi:10.1126/scitranslmed.aao0972
LibreCat: https://research-explorer.ista.ac.at/record/702
DOI: 10.1126/scitranslmed.aao0972

Novarino G. More excitation for Rett syndrome. Science Translational Medicine. 2017;9(405). doi:10.1126/scitranslmed.aao4218
LibreCat: https://research-explorer.ista.ac.at/record/715
DOI: 10.1126/scitranslmed.aao4218

Novarino G. The science of love in ASD and ADHD. Science Translational Medicine. 2017;9(411). doi:10.1126/scitranslmed.aap8168
LibreCat: https://research-explorer.ista.ac.at/record/731
DOI: 10.1126/scitranslmed.aap8168

Sauerzopf U, Sacco R, Novarino G, et al. Are reprogrammed cells a useful tool for studying dopamine dysfunction in psychotic disorders? A review of the current evidence. European Journal of Neuroscience. 2017;45(1):45-57. doi:10.1111/ejn.13418
LibreCat: https://research-explorer.ista.ac.at/record/1228
DOI: 10.1111/ejn.13418
WoS: 000392487100005
PMID: 27690184

Tarlungeanu D-C, Deliu E, Dotter C, et al. Impaired amino acid transport at the blood brain barrier is a cause of autism spectrum disorder. Cell. 2016;167(6):1481-1494. doi:10.1016/j.cell.2016.11.013
LibreCat: https://research-explorer.ista.ac.at/record/1183
DOI: 10.1016/j.cell.2016.11.013

Kuechler A, Zink A, Wieland T, et al. Loss-of-function variants of SET cause intellectual disability and the core phenotype of microdeletion 3.3 syndrome. European Journal of Human Genetics. 2015;23(6):753-760. doi:10.1038/ejhg.2014.165
LibreCat: https://research-explorer.ista.ac.at/record/1789
DOI: 10.1038/ejhg.2014.165
PMID: 25138099

Baek S, Kerjan G, Bielas S, et al. Off-target effect of doublecortin family shRNA on neuronal migration associated with endogenous MicroRNA dysregulation. Neuron. 2014;82(6):1255-1262. doi:10.1016/j.neuron.2014.04.036
LibreCat: https://research-explorer.ista.ac.at/record/1791
DOI: 10.1016/j.neuron.2014.04.036

Novarino G, Fenstermaker A, Zaki M, et al. Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. Science. 2014;343(6170):506-511. doi:10.1126/science.1247363
LibreCat: https://research-explorer.ista.ac.at/record/1916
DOI: 10.1126/science.1247363
PMID: 24482476

Novarino G, Baek S, Gleeson J. The sacred disease: The puzzling genetics of epileptic disorders. Neuron. 2013;80(1):9-11. doi:10.1016/j.neuron.2013.09.019
LibreCat: https://research-explorer.ista.ac.at/record/1790
DOI: 10.1016/j.neuron.2013.09.019

Dixon Salazar T, Silhavy J, Udpa N, et al. Exome sequencing can improve diagnosis and alter patient management. Science Translational Medicine. 2012;4(138). doi:10.1126/scitranslmed.3003544
LibreCat: https://research-explorer.ista.ac.at/record/2313
DOI: 10.1126/scitranslmed.3003544

Novarino G, El Fishawy P, Kayserili H, et al. Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy. Science. 2012;338(6105):394-397. doi:10.1126/science.1224631
LibreCat: https://research-explorer.ista.ac.at/record/2314
DOI: 10.1126/science.1224631

Novarino G, Akizu N, Gleeson J. Modeling human disease in humans: The ciliopathies. Cell. 2011;147(1):70-79. doi:10.1016/j.cell.2011.09.014
LibreCat: https://research-explorer.ista.ac.at/record/2312
DOI: 10.1016/j.cell.2011.09.014

Stauber T, Novarino G, Jentsch T. The CLC family of chloride channels and transporters. In: Physiology and Pathology of Chloride Transporters and Channels in the Nervous System. Elsevier; 2010:209-231. doi:10.1016/B978-0-12-374373-2.00012-1
LibreCat: https://research-explorer.ista.ac.at/record/2309
DOI: 10.1016/B978-0-12-374373-2.00012-1

Rickheit G, Wartosch L, Schaffer S, et al. Role of ClC-5 in renal endocytosis is unique among ClC exchangers and does not require PY-motif-dependent ubiquitylation. Journal of Biological Chemistry. 2010;285(23):17595-17603. doi:10.1074/jbc.M110.115600
LibreCat: https://research-explorer.ista.ac.at/record/2311
DOI: 10.1074/jbc.M110.115600

Novarino G, Weinert S, Rickheit G, Jentsch T. Endosomal chloride-proton exchange rather than chloride conductance is crucial for renal endocytosis. Science. 2010;328(5984):1398-1401. doi:10.1126/science.1188070
LibreCat: https://research-explorer.ista.ac.at/record/2310
DOI: 10.1126/science.1188070

Schwartz J, Novarino G, Piston D, Defelice L. Substrate binding stoichiometry and kinetics of the norepinephrine transporter. Journal of Biological Chemistry. 2005;280(19):19177-19184. doi:10.1074/jbc.M412923200
LibreCat: https://research-explorer.ista.ac.at/record/2307
DOI: 10.1074/jbc.M412923200

Novarino G, Fabrizi C, Tonini R, et al. Involvement of the intracellular ion channel CLI in microglia-mediated ;2-amyloid-induced neurotoxicity. Journal of Neuroscience. 2004;24(23):5322-5330. doi:10.1523/JNEUROSCI.1170-04.2004
LibreCat: https://research-explorer.ista.ac.at/record/2308
DOI: 10.1523/JNEUROSCI.1170-04.2004