36 Publications

Mark all

[36]
2020 | Preprint | IST-REx-ID: 7800   OA
J. Morandell et al., “Cul3 regulates cytoskeleton protein homeostasis and cell migration during a critical window of brain development.” Cold Spring Harbor Laboratory.
View | Files available | Download (ext.)
 
[35]
2020 | Journal Article | IST-REx-ID: 7957   OA
I. Parenti, L. E. Garcia Rabaneda, H. Schön, and G. Novarino, “Neurodevelopmental disorders: From genetics to functional pathways,” Trends in Neurosciences.
View | DOI | Download (ext.)
 
[34]
2020 | Journal Article | IST-REx-ID: 7586   OA
S. Weinert et al., “Uncoupling endosomal CLC chloride/proton exchange causes severe neurodegeneration,” EMBO Journal, p. e103358.
View | Files available | DOI
 
[33]
2019 | Journal Article | IST-REx-ID: 105
A. Marsh, G. Novarino, P. Lockhart, and R. Leventer, “CUGC for pontocerebellar hypoplasia type 9 and spastic paraplegia-63,” European Journal of Human Genetics, vol. 27, pp. 161–166, 2019.
View | DOI
 
[32]
2019 | Journal Article | IST-REx-ID: 6896
B. Oliveira, A. Ç. Yahya, and G. Novarino, “Modeling cell-cell interactions in the brain using cerebral organoids,” Brain Research, vol. 1724, 2019.
View | DOI | PubMed | Europe PMC
 
[31]
2019 | Journal Article | IST-REx-ID: 7414
L. Knaus, D.-C. Tarlungeanu, and G. Novarino, “S.16.03 A homozygous missense mutation in SLC7A5 leads to autism spectrum disorder and microcephaly,” European Neuropsychopharmacology, vol. 29, no. Supplement 6, p. S11, 2019.
View | DOI
 
[30]
2019 | Research Data | IST-REx-ID: 6074
C. Dotter and G. Novarino, Supplementary data for the research paper “Haploinsufficiency of the intellectual disability gene SETD5 disturbs developmental gene expression and cognition.” IST Austria, 2019.
View | Files available | DOI
 
[29]
2019 | Journal Article | IST-REx-ID: 7415
J. Morandell, A. Nicolas, L. A. Schwarz, and G. Novarino, “S.16.05 Illuminating the role of the e3 ubiquitin ligase cullin3 in brain development and autism,” European Neuropsychopharmacology, vol. 29, no. Supplement 6, pp. S11–S12, 2019.
View | DOI
 
[28]
2019 | Journal Article | IST-REx-ID: 6088
A. Traxl 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, pp. 1282–1293, 2019.
View | DOI | PubMed | Europe PMC
 
[27]
2018 | Journal Article | IST-REx-ID: 456
G. Novarino, “Zika-associated microcephaly: Reduce the stress and race for the treatment,” Science Translational Medicine, vol. 10, no. 423, 2018.
View | DOI
 
[26]
2018 | Journal Article | IST-REx-ID: 691   OA
I. Marin Valencia et al., “A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly epilepsy and autistic features,” Journal of Medical Genetics, vol. 55, no. 1, pp. 48–54, 2018.
View | DOI | Download (ext.) | PubMed | Europe PMC
 
[25]
2018 | Journal Article | IST-REx-ID: 546
R. Sacco, E. Cacci, and G. Novarino, “Neural stem cells in neuropsychiatric disorders,” Current Opinion in Neurobiology, vol. 48, no. 2, pp. 131–138, 2018.
View | DOI
 
[24]
2018 | Journal Article | IST-REx-ID: 5888   OA
D.-C. Tarlungeanu and G. Novarino, “Genomics in neurodevelopmental disorders: an avenue to personalized medicine,” Experimental & Molecular Medicine, vol. 50, no. 8, 2018.
View | Files available | DOI | PubMed | Europe PMC
 
[23]
2018 | Journal Article | IST-REx-ID: 3   OA
E. Deliu et al., “Haploinsufficiency of the intellectual disability gene SETD5 disturbs developmental gene expression and cognition,” Nature Neuroscience, vol. 21, no. 12, pp. 1717–1727, 2018.
View | Files available | DOI
 
[22]
2017 | Journal Article | IST-REx-ID: 667
G. Novarino, “The antisocial side of antibiotics,” Science Translational Medicine, vol. 9, no. 387, 2017.
View | DOI
 
[21]
2017 | Journal Article | IST-REx-ID: 656
G. Novarino, “Modeling Alzheimer’s disease in mice with human neurons,” Science Translational Medicine, vol. 9, no. 381, 2017.
View | DOI
 
[20]
2017 | Journal Article | IST-REx-ID: 702
G. Novarino, “The riddle of CHD8 haploinsufficiency in autism spectrum disorder,” Science Translational Medicine, vol. 9, no. 399, p. eaao0972, 2017.
View | DOI
 
[19]
2017 | Journal Article | IST-REx-ID: 715
G. Novarino, “More excitation for Rett syndrome,” Science Translational Medicine, vol. 9, no. 405, 2017.
View | DOI
 
[18]
2017 | Journal Article | IST-REx-ID: 689
G. Novarino, “Rett syndrome modeling goes simian,” Science Translational Medicine, vol. 9, no. 393, 2017.
View | DOI
 
[17]
2017 | Book Chapter | IST-REx-ID: 634
J. Schroeder, E. Deliu, G. Novarino, and M. Schmeisser, “Genetic and pharmacological reversibility of phenotypes in mouse models of autism spectrum disorder,” in Translational Anatomy and Cell Biology of Autism Spectrum Disorder, vol. 224, M. Schmeisser and T. Boekers, Eds. Springer, 2017, pp. 189–211.
View | DOI
 
[16]
2017 | Journal Article | IST-REx-ID: 1228   OA
U. Sauerzopf 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, vol. 45, no. 1, pp. 45–57, 2017.
View | Files available | DOI
 
[15]
2017 | Book Chapter | IST-REx-ID: 623
E. Hill Yardin, S. Mckeown, G. Novarino, and A. Grabrucker, “Extracerebral dysfunction in animal models of autism spectrum disorder,” in Translational Anatomy and Cell Biology of Autism Spectrum Disorder, vol. 224, M. Schmeisser and T. Boekers, Eds. Springer, 2017, pp. 159–187.
View | DOI
 
[14]
2017 | Journal Article | IST-REx-ID: 731
G. Novarino, “The science of love in ASD and ADHD,” Science Translational Medicine, vol. 9, no. 411, 2017.
View | DOI
 
[13]
2016 | Journal Article | IST-REx-ID: 1183
D.-C. Tarlungeanu et al., “Impaired amino acid transport at the blood brain barrier is a cause of autism spectrum disorder,” Cell, vol. 167, no. 6, pp. 1481–1494, 2016.
View | Files available | DOI
 
[12]
2015 | Journal Article | IST-REx-ID: 1789   OA
A. Kuechler 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, vol. 23, no. 6, pp. 753–760, 2015.
View | DOI | Download (ext.) | PubMed | Europe PMC
 
[11]
2014 | Journal Article | IST-REx-ID: 1916   OA
G. Novarino et al., “Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders,” Science, vol. 343, no. 6170, pp. 506–511, 2014.
View | DOI | Download (ext.) | PubMed | Europe PMC
 
[10]
2014 | Journal Article | IST-REx-ID: 1791
S. Baek et al., “Off-target effect of doublecortin family shRNA on neuronal migration associated with endogenous MicroRNA dysregulation,” Neuron, vol. 82, no. 6, pp. 1255–1262, 2014.
View | DOI
 
[9]
2013 | Journal Article | IST-REx-ID: 1790
G. Novarino, S. Baek, and J. Gleeson, “The sacred disease: The puzzling genetics of epileptic disorders,” Neuron, vol. 80, no. 1, pp. 9–11, 2013.
View | DOI
 
[8]
2012 | Journal Article | IST-REx-ID: 2313
T. Dixon Salazar et al., “Exome sequencing can improve diagnosis and alter patient management,” Science Translational Medicine, vol. 4, no. 138, 2012.
View | DOI
 
[7]
2012 | Journal Article | IST-REx-ID: 2314
G. Novarino et al., “Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy,” Science, vol. 338, no. 6105, pp. 394–397, 2012.
View | DOI
 
[6]
2011 | Book Review | IST-REx-ID: 2312
G. Novarino, N. Akizu, and J. Gleeson, “Modeling human disease in humans: The ciliopathies,” Cell, vol. 147, no. 1. Cell Press, pp. 70–79, 2011.
View | DOI
 
[5]
2010 | Book Chapter | IST-REx-ID: 2309
T. Stauber, G. Novarino, and T. Jentsch, “The CLC family of chloride channels and transporters,” in Physiology and Pathology of chloride transporters and channels in the nervous system, Elsevier, 2010, pp. 209–231.
View | DOI
 
[4]
2010 | Journal Article | IST-REx-ID: 2311
G. Rickheit 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, vol. 285, no. 23, pp. 17595–17603, 2010.
View | DOI
 
[3]
2010 | Journal Article | IST-REx-ID: 2310
G. Novarino, S. Weinert, G. Rickheit, and T. Jentsch, “Endosomal chloride-proton exchange rather than chloride conductance is crucial for renal endocytosis,” Science, vol. 328, no. 5984, pp. 1398–1401, 2010.
View | DOI
 
[2]
2005 | Journal Article | IST-REx-ID: 2307
J. Schwartz, G. Novarino, D. Piston, and L. Defelice, “Substrate binding stoichiometry and kinetics of the norepinephrine transporter,” Journal of Biological Chemistry, vol. 280, no. 19, pp. 19177–19184, 2005.
View | DOI
 
[1]
2004 | Journal Article | IST-REx-ID: 2308
G. Novarino et al., “Involvement of the intracellular ion channel CLIC1 in microglia-mediated β-amyloid-induced neurotoxicity,” Journal of Neuroscience, vol. 24, no. 23, pp. 5322–5330, 2004.
View | DOI
 

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36 Publications

Mark all

[36]
2020 | Preprint | IST-REx-ID: 7800   OA
J. Morandell et al., “Cul3 regulates cytoskeleton protein homeostasis and cell migration during a critical window of brain development.” Cold Spring Harbor Laboratory.
View | Files available | Download (ext.)
 
[35]
2020 | Journal Article | IST-REx-ID: 7957   OA
I. Parenti, L. E. Garcia Rabaneda, H. Schön, and G. Novarino, “Neurodevelopmental disorders: From genetics to functional pathways,” Trends in Neurosciences.
View | DOI | Download (ext.)
 
[34]
2020 | Journal Article | IST-REx-ID: 7586   OA
S. Weinert et al., “Uncoupling endosomal CLC chloride/proton exchange causes severe neurodegeneration,” EMBO Journal, p. e103358.
View | Files available | DOI
 
[33]
2019 | Journal Article | IST-REx-ID: 105
A. Marsh, G. Novarino, P. Lockhart, and R. Leventer, “CUGC for pontocerebellar hypoplasia type 9 and spastic paraplegia-63,” European Journal of Human Genetics, vol. 27, pp. 161–166, 2019.
View | DOI
 
[32]
2019 | Journal Article | IST-REx-ID: 6896
B. Oliveira, A. Ç. Yahya, and G. Novarino, “Modeling cell-cell interactions in the brain using cerebral organoids,” Brain Research, vol. 1724, 2019.
View | DOI | PubMed | Europe PMC
 
[31]
2019 | Journal Article | IST-REx-ID: 7414
L. Knaus, D.-C. Tarlungeanu, and G. Novarino, “S.16.03 A homozygous missense mutation in SLC7A5 leads to autism spectrum disorder and microcephaly,” European Neuropsychopharmacology, vol. 29, no. Supplement 6, p. S11, 2019.
View | DOI
 
[30]
2019 | Research Data | IST-REx-ID: 6074
C. Dotter and G. Novarino, Supplementary data for the research paper “Haploinsufficiency of the intellectual disability gene SETD5 disturbs developmental gene expression and cognition.” IST Austria, 2019.
View | Files available | DOI
 
[29]
2019 | Journal Article | IST-REx-ID: 7415
J. Morandell, A. Nicolas, L. A. Schwarz, and G. Novarino, “S.16.05 Illuminating the role of the e3 ubiquitin ligase cullin3 in brain development and autism,” European Neuropsychopharmacology, vol. 29, no. Supplement 6, pp. S11–S12, 2019.
View | DOI
 
[28]
2019 | Journal Article | IST-REx-ID: 6088
A. Traxl 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, pp. 1282–1293, 2019.
View | DOI | PubMed | Europe PMC
 
[27]
2018 | Journal Article | IST-REx-ID: 456
G. Novarino, “Zika-associated microcephaly: Reduce the stress and race for the treatment,” Science Translational Medicine, vol. 10, no. 423, 2018.
View | DOI
 
[26]
2018 | Journal Article | IST-REx-ID: 691   OA
I. Marin Valencia et al., “A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly epilepsy and autistic features,” Journal of Medical Genetics, vol. 55, no. 1, pp. 48–54, 2018.
View | DOI | Download (ext.) | PubMed | Europe PMC
 
[25]
2018 | Journal Article | IST-REx-ID: 546
R. Sacco, E. Cacci, and G. Novarino, “Neural stem cells in neuropsychiatric disorders,” Current Opinion in Neurobiology, vol. 48, no. 2, pp. 131–138, 2018.
View | DOI
 
[24]
2018 | Journal Article | IST-REx-ID: 5888   OA
D.-C. Tarlungeanu and G. Novarino, “Genomics in neurodevelopmental disorders: an avenue to personalized medicine,” Experimental & Molecular Medicine, vol. 50, no. 8, 2018.
View | Files available | DOI | PubMed | Europe PMC
 
[23]
2018 | Journal Article | IST-REx-ID: 3   OA
E. Deliu et al., “Haploinsufficiency of the intellectual disability gene SETD5 disturbs developmental gene expression and cognition,” Nature Neuroscience, vol. 21, no. 12, pp. 1717–1727, 2018.
View | Files available | DOI
 
[22]
2017 | Journal Article | IST-REx-ID: 667
G. Novarino, “The antisocial side of antibiotics,” Science Translational Medicine, vol. 9, no. 387, 2017.
View | DOI
 
[21]
2017 | Journal Article | IST-REx-ID: 656
G. Novarino, “Modeling Alzheimer’s disease in mice with human neurons,” Science Translational Medicine, vol. 9, no. 381, 2017.
View | DOI
 
[20]
2017 | Journal Article | IST-REx-ID: 702
G. Novarino, “The riddle of CHD8 haploinsufficiency in autism spectrum disorder,” Science Translational Medicine, vol. 9, no. 399, p. eaao0972, 2017.
View | DOI
 
[19]
2017 | Journal Article | IST-REx-ID: 715
G. Novarino, “More excitation for Rett syndrome,” Science Translational Medicine, vol. 9, no. 405, 2017.
View | DOI
 
[18]
2017 | Journal Article | IST-REx-ID: 689
G. Novarino, “Rett syndrome modeling goes simian,” Science Translational Medicine, vol. 9, no. 393, 2017.
View | DOI
 
[17]
2017 | Book Chapter | IST-REx-ID: 634
J. Schroeder, E. Deliu, G. Novarino, and M. Schmeisser, “Genetic and pharmacological reversibility of phenotypes in mouse models of autism spectrum disorder,” in Translational Anatomy and Cell Biology of Autism Spectrum Disorder, vol. 224, M. Schmeisser and T. Boekers, Eds. Springer, 2017, pp. 189–211.
View | DOI
 
[16]
2017 | Journal Article | IST-REx-ID: 1228   OA
U. Sauerzopf 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, vol. 45, no. 1, pp. 45–57, 2017.
View | Files available | DOI
 
[15]
2017 | Book Chapter | IST-REx-ID: 623
E. Hill Yardin, S. Mckeown, G. Novarino, and A. Grabrucker, “Extracerebral dysfunction in animal models of autism spectrum disorder,” in Translational Anatomy and Cell Biology of Autism Spectrum Disorder, vol. 224, M. Schmeisser and T. Boekers, Eds. Springer, 2017, pp. 159–187.
View | DOI
 
[14]
2017 | Journal Article | IST-REx-ID: 731
G. Novarino, “The science of love in ASD and ADHD,” Science Translational Medicine, vol. 9, no. 411, 2017.
View | DOI
 
[13]
2016 | Journal Article | IST-REx-ID: 1183
D.-C. Tarlungeanu et al., “Impaired amino acid transport at the blood brain barrier is a cause of autism spectrum disorder,” Cell, vol. 167, no. 6, pp. 1481–1494, 2016.
View | Files available | DOI
 
[12]
2015 | Journal Article | IST-REx-ID: 1789   OA
A. Kuechler 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, vol. 23, no. 6, pp. 753–760, 2015.
View | DOI | Download (ext.) | PubMed | Europe PMC
 
[11]
2014 | Journal Article | IST-REx-ID: 1916   OA
G. Novarino et al., “Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders,” Science, vol. 343, no. 6170, pp. 506–511, 2014.
View | DOI | Download (ext.) | PubMed | Europe PMC
 
[10]
2014 | Journal Article | IST-REx-ID: 1791
S. Baek et al., “Off-target effect of doublecortin family shRNA on neuronal migration associated with endogenous MicroRNA dysregulation,” Neuron, vol. 82, no. 6, pp. 1255–1262, 2014.
View | DOI
 
[9]
2013 | Journal Article | IST-REx-ID: 1790
G. Novarino, S. Baek, and J. Gleeson, “The sacred disease: The puzzling genetics of epileptic disorders,” Neuron, vol. 80, no. 1, pp. 9–11, 2013.
View | DOI
 
[8]
2012 | Journal Article | IST-REx-ID: 2313
T. Dixon Salazar et al., “Exome sequencing can improve diagnosis and alter patient management,” Science Translational Medicine, vol. 4, no. 138, 2012.
View | DOI
 
[7]
2012 | Journal Article | IST-REx-ID: 2314
G. Novarino et al., “Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy,” Science, vol. 338, no. 6105, pp. 394–397, 2012.
View | DOI
 
[6]
2011 | Book Review | IST-REx-ID: 2312
G. Novarino, N. Akizu, and J. Gleeson, “Modeling human disease in humans: The ciliopathies,” Cell, vol. 147, no. 1. Cell Press, pp. 70–79, 2011.
View | DOI
 
[5]
2010 | Book Chapter | IST-REx-ID: 2309
T. Stauber, G. Novarino, and T. Jentsch, “The CLC family of chloride channels and transporters,” in Physiology and Pathology of chloride transporters and channels in the nervous system, Elsevier, 2010, pp. 209–231.
View | DOI
 
[4]
2010 | Journal Article | IST-REx-ID: 2311
G. Rickheit 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, vol. 285, no. 23, pp. 17595–17603, 2010.
View | DOI
 
[3]
2010 | Journal Article | IST-REx-ID: 2310
G. Novarino, S. Weinert, G. Rickheit, and T. Jentsch, “Endosomal chloride-proton exchange rather than chloride conductance is crucial for renal endocytosis,” Science, vol. 328, no. 5984, pp. 1398–1401, 2010.
View | DOI
 
[2]
2005 | Journal Article | IST-REx-ID: 2307
J. Schwartz, G. Novarino, D. Piston, and L. Defelice, “Substrate binding stoichiometry and kinetics of the norepinephrine transporter,” Journal of Biological Chemistry, vol. 280, no. 19, pp. 19177–19184, 2005.
View | DOI
 
[1]
2004 | Journal Article | IST-REx-ID: 2308
G. Novarino et al., “Involvement of the intracellular ion channel CLIC1 in microglia-mediated β-amyloid-induced neurotoxicity,” Journal of Neuroscience, vol. 24, no. 23, pp. 5322–5330, 2004.
View | DOI
 

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Citation Style: IEEE

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