36 Publications

Mark all

[36]
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.” Cold Spring Harbor Laboratory, n.d.
View | Files available | Download (ext.)
 
[35]
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.
View | DOI | Download (ext.)
 
[34]
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., e103358. https://doi.org/10.15252/embj.2019103358.
View | Files available | DOI
 
[33]
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.
View | DOI
 
[32]
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.
View | DOI | PubMed | Europe PMC
 
[31]
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.
View | DOI
 
[30]
2019 | Research Data | IST-REx-ID: 6074
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. https://doi.org/10.15479/AT:ISTA:6074.
View | Files available | DOI
 
[29]
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.
View | DOI
 
[28]
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.
View | DOI | PubMed | Europe PMC
 
[27]
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.
View | DOI
 
[26]
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.
View | DOI | Download (ext.) | PubMed | Europe PMC
 
[25]
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.
View | DOI
 
[24]
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.
View | Files available | DOI | PubMed | Europe PMC
 
[23]
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.
View | Files available | DOI
 
[22]
2017 | Journal Article | IST-REx-ID: 667
Novarino, Gaia. “The Antisocial Side of Antibiotics.” Science Translational Medicine 9, no. 387 (2017). https://doi.org/10.1126/scitranslmed.aan2786.
View | DOI
 
[21]
2017 | Journal Article | IST-REx-ID: 656
Novarino, Gaia. “Modeling Alzheimer’s Disease in Mice with Human Neurons.” Science Translational Medicine 9, no. 381 (2017). https://doi.org/10.1126/scitranslmed.aam9867.
View | DOI
 
[20]
2017 | Journal Article | IST-REx-ID: 702
Novarino, Gaia. “The Riddle of CHD8 Haploinsufficiency in Autism Spectrum Disorder.” Science Translational Medicine 9, no. 399 (2017): eaao0972. https://doi.org/10.1126/scitranslmed.aao0972.
View | DOI
 
[19]
2017 | Journal Article | IST-REx-ID: 715
Novarino, Gaia. “More Excitation for Rett Syndrome.” Science Translational Medicine 9, no. 405 (2017). https://doi.org/10.1126/scitranslmed.aao4218.
View | DOI
 
[18]
2017 | Journal Article | IST-REx-ID: 689
Novarino, Gaia. “Rett Syndrome Modeling Goes Simian.” Science Translational Medicine 9, no. 393 (2017). https://doi.org/10.1126/scitranslmed.aan8196.
View | DOI
 
[17]
2017 | Book Chapter | IST-REx-ID: 634
Schroeder, Jan, Elena Deliu, Gaia Novarino, and Michael Schmeisser. “Genetic and Pharmacological Reversibility of Phenotypes in Mouse Models of Autism Spectrum Disorder.” In Translational Anatomy and Cell Biology of Autism Spectrum Disorder, edited by Michael Schmeisser and Tobias Boekers, 224:189–211. Advances in Anatomy Embryology and Cell Biology. Springer, 2017. https://doi.org/10.1007/978-3-319-52498-6_10.
View | DOI
 
[16]
2017 | Journal Article | IST-REx-ID: 1228   OA
Sauerzopf, Ulrich, Roberto Sacco, Gaia Novarino, Marco Niello, Ana Weidenauer, Nicole Praschak Rieder, Harald Sitte, and Matthaeus Willeit. “Are Reprogrammed Cells a Useful Tool for Studying Dopamine Dysfunction in Psychotic Disorders? A Review of the Current Evidence.” European Journal of Neuroscience 45, no. 1 (2017): 45–57. https://doi.org/10.1111/ejn.13418.
View | Files available | DOI
 
[15]
2017 | Book Chapter | IST-REx-ID: 623
Hill Yardin, Elisa, Sonja Mckeown, Gaia Novarino, and Andreas Grabrucker. “Extracerebral Dysfunction in Animal Models of Autism Spectrum Disorder.” In Translational Anatomy and Cell Biology of Autism Spectrum Disorder, edited by Michael Schmeisser and Tobias Boekers, 224:159–87. Advances in Anatomy Embryology and Cell Biology. Springer, 2017. https://doi.org/10.1007/978-3-319-52498-6_9.
View | DOI
 
[14]
2017 | Journal Article | IST-REx-ID: 731
Novarino, Gaia. “The Science of Love in ASD and ADHD.” Science Translational Medicine 9, no. 411 (2017). https://doi.org/10.1126/scitranslmed.aap8168.
View | DOI
 
[13]
2016 | Journal Article | IST-REx-ID: 1183
Tarlungeanu, Dora-Clara, Elena Deliu, Christoph Dotter, Majdi Kara, Philipp Janiesch, Mariafrancesca Scalise, Michele Galluccio, et al. “Impaired Amino Acid Transport at the Blood Brain Barrier Is a Cause of Autism Spectrum Disorder.” Cell 167, no. 6 (2016): 1481–94. https://doi.org/10.1016/j.cell.2016.11.013.
View | Files available | DOI
 
[12]
2015 | Journal Article | IST-REx-ID: 1789   OA
Kuechler, Alma, Alexander Zink, Thomas Wieland, Hermann Lüdecke, Kirsten Cremer, Leonardo Salviati, Pamela Magini, et al. “Loss-of-Function Variants of SETD5 Cause Intellectual Disability and the Core Phenotype of Microdeletion 3p25.3 Syndrome.” European Journal of Human Genetics 23, no. 6 (2015): 753–60. https://doi.org/10.1038/ejhg.2014.165.
View | DOI | Download (ext.) | PubMed | Europe PMC
 
[11]
2014 | Journal Article | IST-REx-ID: 1916   OA
Novarino, Gaia, Ali Fenstermaker, Maha Zaki, Matan Hofree, Jennifer Silhavy, Andrew Heiberg, Mostafa Abdellateef, et al. “Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders.” Science 343, no. 6170 (2014): 506–11. https://doi.org/10.1126/science.1247363.
View | DOI | Download (ext.) | PubMed | Europe PMC
 
[10]
2014 | Journal Article | IST-REx-ID: 1791
Baek, Seungtae, Géraldine Kerjan, Stephanie Bielas, Jieun Lee, Ali Fenstermaker, Gaia Novarino, and Joseph Gleeson. “Off-Target Effect of Doublecortin Family ShRNA on Neuronal Migration Associated with Endogenous MicroRNA Dysregulation.” Neuron 82, no. 6 (2014): 1255–62. https://doi.org/10.1016/j.neuron.2014.04.036.
View | DOI
 
[9]
2013 | Journal Article | IST-REx-ID: 1790
Novarino, Gaia, Seungtae Baek, and Joseph Gleeson. “The Sacred Disease: The Puzzling Genetics of Epileptic Disorders.” Neuron 80, no. 1 (2013): 9–11. https://doi.org/10.1016/j.neuron.2013.09.019.
View | DOI
 
[8]
2012 | Journal Article | IST-REx-ID: 2313
Dixon Salazar, Tracy, Jennifer Silhavy, Nitin Udpa, Jana Schroth, Stephanie Bielas, Ashleigh Schaffer, Jesus Olvera, et al. “Exome Sequencing Can Improve Diagnosis and Alter Patient Management.” Science Translational Medicine 4, no. 138 (2012). https://doi.org/10.1126/scitranslmed.3003544.
View | DOI
 
[7]
2012 | Journal Article | IST-REx-ID: 2314
Novarino, Gaia, Paul El Fishawy, Hülya Kayserili, Nagwa Meguid, Eric Scott, Jana Schroth, Jennifer Silhavy, et al. “Mutations in BCKD-Kinase Lead to a Potentially Treatable Form of Autism with Epilepsy.” Science 338, no. 6105 (2012): 394–97. https://doi.org/10.1126/science.1224631.
View | DOI
 
[6]
2011 | Book Review | IST-REx-ID: 2312
Novarino, Gaia, Naiara Akizu, and Joseph Gleeson. “Modeling Human Disease in Humans: The Ciliopathies.” Cell. Cell Press, 2011. https://doi.org/10.1016/j.cell.2011.09.014.
View | DOI
 
[5]
2010 | Book Chapter | IST-REx-ID: 2309
Stauber, Tobias, Gaia Novarino, and Thomas Jentsch. “The CLC Family of Chloride Channels and Transporters.” In Physiology and Pathology of Chloride Transporters and Channels in the Nervous System, 209–31. Elsevier, 2010. https://doi.org/10.1016/B978-0-12-374373-2.00012-1.
View | DOI
 
[4]
2010 | Journal Article | IST-REx-ID: 2311
Rickheit, Gesa, Lena Wartosch, Sven Schaffer, Sandra Stobrawa, Gaia Novarino, Stefanie Weinert, and Thomas Jentsch. “Role of ClC-5 in Renal Endocytosis Is Unique among ClC Exchangers and Does Not Require PY-Motif-Dependent Ubiquitylation.” Journal of Biological Chemistry 285, no. 23 (2010): 17595–603. https://doi.org/10.1074/jbc.M110.115600.
View | DOI
 
[3]
2010 | Journal Article | IST-REx-ID: 2310
Novarino, Gaia, Stefanie Weinert, Gesa Rickheit, and Thomas Jentsch. “Endosomal Chloride-Proton Exchange Rather than Chloride Conductance Is Crucial for Renal Endocytosis.” Science 328, no. 5984 (2010): 1398–1401. https://doi.org/10.1126/science.1188070.
View | DOI
 
[2]
2005 | Journal Article | IST-REx-ID: 2307
Schwartz, Joel, Gaia Novarino, David Piston, and Louis Defelice. “Substrate Binding Stoichiometry and Kinetics of the Norepinephrine Transporter.” Journal of Biological Chemistry 280, no. 19 (2005): 19177–84. https://doi.org/10.1074/jbc.M412923200.
View | DOI
 
[1]
2004 | Journal Article | IST-REx-ID: 2308
Novarino, Gaia, Cinzia Fabrizi, Raffaella Tonini, Michela Denti, Albedi Malchiodi, Giuliana Lauro, Benedetto Sacchetti, et al. “Involvement of the Intracellular Ion Channel CLIC1 in Microglia-Mediated β-Amyloid-Induced Neurotoxicity.” Journal of Neuroscience 24, no. 23 (2004): 5322–30. https://doi.org/10.1523/JNEUROSCI.1170-04.2004.
View | DOI
 

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36 Publications

Mark all

[36]
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.” Cold Spring Harbor Laboratory, n.d.
View | Files available | Download (ext.)
 
[35]
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.
View | DOI | Download (ext.)
 
[34]
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., e103358. https://doi.org/10.15252/embj.2019103358.
View | Files available | DOI
 
[33]
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.
View | DOI
 
[32]
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.
View | DOI | PubMed | Europe PMC
 
[31]
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.
View | DOI
 
[30]
2019 | Research Data | IST-REx-ID: 6074
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. https://doi.org/10.15479/AT:ISTA:6074.
View | Files available | DOI
 
[29]
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.
View | DOI
 
[28]
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.
View | DOI | PubMed | Europe PMC
 
[27]
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.
View | DOI
 
[26]
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.
View | DOI | Download (ext.) | PubMed | Europe PMC
 
[25]
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.
View | DOI
 
[24]
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.
View | Files available | DOI | PubMed | Europe PMC
 
[23]
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.
View | Files available | DOI
 
[22]
2017 | Journal Article | IST-REx-ID: 667
Novarino, Gaia. “The Antisocial Side of Antibiotics.” Science Translational Medicine 9, no. 387 (2017). https://doi.org/10.1126/scitranslmed.aan2786.
View | DOI
 
[21]
2017 | Journal Article | IST-REx-ID: 656
Novarino, Gaia. “Modeling Alzheimer’s Disease in Mice with Human Neurons.” Science Translational Medicine 9, no. 381 (2017). https://doi.org/10.1126/scitranslmed.aam9867.
View | DOI
 
[20]
2017 | Journal Article | IST-REx-ID: 702
Novarino, Gaia. “The Riddle of CHD8 Haploinsufficiency in Autism Spectrum Disorder.” Science Translational Medicine 9, no. 399 (2017): eaao0972. https://doi.org/10.1126/scitranslmed.aao0972.
View | DOI
 
[19]
2017 | Journal Article | IST-REx-ID: 715
Novarino, Gaia. “More Excitation for Rett Syndrome.” Science Translational Medicine 9, no. 405 (2017). https://doi.org/10.1126/scitranslmed.aao4218.
View | DOI
 
[18]
2017 | Journal Article | IST-REx-ID: 689
Novarino, Gaia. “Rett Syndrome Modeling Goes Simian.” Science Translational Medicine 9, no. 393 (2017). https://doi.org/10.1126/scitranslmed.aan8196.
View | DOI
 
[17]
2017 | Book Chapter | IST-REx-ID: 634
Schroeder, Jan, Elena Deliu, Gaia Novarino, and Michael Schmeisser. “Genetic and Pharmacological Reversibility of Phenotypes in Mouse Models of Autism Spectrum Disorder.” In Translational Anatomy and Cell Biology of Autism Spectrum Disorder, edited by Michael Schmeisser and Tobias Boekers, 224:189–211. Advances in Anatomy Embryology and Cell Biology. Springer, 2017. https://doi.org/10.1007/978-3-319-52498-6_10.
View | DOI
 
[16]
2017 | Journal Article | IST-REx-ID: 1228   OA
Sauerzopf, Ulrich, Roberto Sacco, Gaia Novarino, Marco Niello, Ana Weidenauer, Nicole Praschak Rieder, Harald Sitte, and Matthaeus Willeit. “Are Reprogrammed Cells a Useful Tool for Studying Dopamine Dysfunction in Psychotic Disorders? A Review of the Current Evidence.” European Journal of Neuroscience 45, no. 1 (2017): 45–57. https://doi.org/10.1111/ejn.13418.
View | Files available | DOI
 
[15]
2017 | Book Chapter | IST-REx-ID: 623
Hill Yardin, Elisa, Sonja Mckeown, Gaia Novarino, and Andreas Grabrucker. “Extracerebral Dysfunction in Animal Models of Autism Spectrum Disorder.” In Translational Anatomy and Cell Biology of Autism Spectrum Disorder, edited by Michael Schmeisser and Tobias Boekers, 224:159–87. Advances in Anatomy Embryology and Cell Biology. Springer, 2017. https://doi.org/10.1007/978-3-319-52498-6_9.
View | DOI
 
[14]
2017 | Journal Article | IST-REx-ID: 731
Novarino, Gaia. “The Science of Love in ASD and ADHD.” Science Translational Medicine 9, no. 411 (2017). https://doi.org/10.1126/scitranslmed.aap8168.
View | DOI
 
[13]
2016 | Journal Article | IST-REx-ID: 1183
Tarlungeanu, Dora-Clara, Elena Deliu, Christoph Dotter, Majdi Kara, Philipp Janiesch, Mariafrancesca Scalise, Michele Galluccio, et al. “Impaired Amino Acid Transport at the Blood Brain Barrier Is a Cause of Autism Spectrum Disorder.” Cell 167, no. 6 (2016): 1481–94. https://doi.org/10.1016/j.cell.2016.11.013.
View | Files available | DOI
 
[12]
2015 | Journal Article | IST-REx-ID: 1789   OA
Kuechler, Alma, Alexander Zink, Thomas Wieland, Hermann Lüdecke, Kirsten Cremer, Leonardo Salviati, Pamela Magini, et al. “Loss-of-Function Variants of SETD5 Cause Intellectual Disability and the Core Phenotype of Microdeletion 3p25.3 Syndrome.” European Journal of Human Genetics 23, no. 6 (2015): 753–60. https://doi.org/10.1038/ejhg.2014.165.
View | DOI | Download (ext.) | PubMed | Europe PMC
 
[11]
2014 | Journal Article | IST-REx-ID: 1916   OA
Novarino, Gaia, Ali Fenstermaker, Maha Zaki, Matan Hofree, Jennifer Silhavy, Andrew Heiberg, Mostafa Abdellateef, et al. “Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders.” Science 343, no. 6170 (2014): 506–11. https://doi.org/10.1126/science.1247363.
View | DOI | Download (ext.) | PubMed | Europe PMC
 
[10]
2014 | Journal Article | IST-REx-ID: 1791
Baek, Seungtae, Géraldine Kerjan, Stephanie Bielas, Jieun Lee, Ali Fenstermaker, Gaia Novarino, and Joseph Gleeson. “Off-Target Effect of Doublecortin Family ShRNA on Neuronal Migration Associated with Endogenous MicroRNA Dysregulation.” Neuron 82, no. 6 (2014): 1255–62. https://doi.org/10.1016/j.neuron.2014.04.036.
View | DOI
 
[9]
2013 | Journal Article | IST-REx-ID: 1790
Novarino, Gaia, Seungtae Baek, and Joseph Gleeson. “The Sacred Disease: The Puzzling Genetics of Epileptic Disorders.” Neuron 80, no. 1 (2013): 9–11. https://doi.org/10.1016/j.neuron.2013.09.019.
View | DOI
 
[8]
2012 | Journal Article | IST-REx-ID: 2313
Dixon Salazar, Tracy, Jennifer Silhavy, Nitin Udpa, Jana Schroth, Stephanie Bielas, Ashleigh Schaffer, Jesus Olvera, et al. “Exome Sequencing Can Improve Diagnosis and Alter Patient Management.” Science Translational Medicine 4, no. 138 (2012). https://doi.org/10.1126/scitranslmed.3003544.
View | DOI
 
[7]
2012 | Journal Article | IST-REx-ID: 2314
Novarino, Gaia, Paul El Fishawy, Hülya Kayserili, Nagwa Meguid, Eric Scott, Jana Schroth, Jennifer Silhavy, et al. “Mutations in BCKD-Kinase Lead to a Potentially Treatable Form of Autism with Epilepsy.” Science 338, no. 6105 (2012): 394–97. https://doi.org/10.1126/science.1224631.
View | DOI
 
[6]
2011 | Book Review | IST-REx-ID: 2312
Novarino, Gaia, Naiara Akizu, and Joseph Gleeson. “Modeling Human Disease in Humans: The Ciliopathies.” Cell. Cell Press, 2011. https://doi.org/10.1016/j.cell.2011.09.014.
View | DOI
 
[5]
2010 | Book Chapter | IST-REx-ID: 2309
Stauber, Tobias, Gaia Novarino, and Thomas Jentsch. “The CLC Family of Chloride Channels and Transporters.” In Physiology and Pathology of Chloride Transporters and Channels in the Nervous System, 209–31. Elsevier, 2010. https://doi.org/10.1016/B978-0-12-374373-2.00012-1.
View | DOI
 
[4]
2010 | Journal Article | IST-REx-ID: 2311
Rickheit, Gesa, Lena Wartosch, Sven Schaffer, Sandra Stobrawa, Gaia Novarino, Stefanie Weinert, and Thomas Jentsch. “Role of ClC-5 in Renal Endocytosis Is Unique among ClC Exchangers and Does Not Require PY-Motif-Dependent Ubiquitylation.” Journal of Biological Chemistry 285, no. 23 (2010): 17595–603. https://doi.org/10.1074/jbc.M110.115600.
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2010 | Journal Article | IST-REx-ID: 2310
Novarino, Gaia, Stefanie Weinert, Gesa Rickheit, and Thomas Jentsch. “Endosomal Chloride-Proton Exchange Rather than Chloride Conductance Is Crucial for Renal Endocytosis.” Science 328, no. 5984 (2010): 1398–1401. https://doi.org/10.1126/science.1188070.
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2005 | Journal Article | IST-REx-ID: 2307
Schwartz, Joel, Gaia Novarino, David Piston, and Louis Defelice. “Substrate Binding Stoichiometry and Kinetics of the Norepinephrine Transporter.” Journal of Biological Chemistry 280, no. 19 (2005): 19177–84. https://doi.org/10.1074/jbc.M412923200.
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[1]
2004 | Journal Article | IST-REx-ID: 2308
Novarino, Gaia, Cinzia Fabrizi, Raffaella Tonini, Michela Denti, Albedi Malchiodi, Giuliana Lauro, Benedetto Sacchetti, et al. “Involvement of the Intracellular Ion Channel CLIC1 in Microglia-Mediated β-Amyloid-Induced Neurotoxicity.” Journal of Neuroscience 24, no. 23 (2004): 5322–30. https://doi.org/10.1523/JNEUROSCI.1170-04.2004.
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