36 Publications

Mark all

[36]
2020 | Journal Article | IST-REx-ID: 7586 | OA
Weinert S, Gimber N, Deuschel D, Stuhlmann T, Puchkov D, Farsi Z, Ludwig CF, Novarino G, López-Cayuqueo KI, Planells-Cases R, Jentsch TJ. Uncoupling endosomal CLC chloride/proton exchange causes severe neurodegeneration. EMBO Journal., e103358.
View | Files available | DOI
 
[35]
2020 | Preprint | IST-REx-ID: 7800 | OA
Morandell J, Schwarz LA, Basilico B, Tasciyan S, Nicolas A, Sommer CM, Kreuzinger C, Knaus L, Dobler Z, Cacci E, Danzl JG, Novarino G. Cul3 regulates cytoskeleton protein homeostasis and cell migration during a critical window of brain development.
View | Files available | Download (ext.)
 
[34]
2020 | Journal Article | IST-REx-ID: 7957 | OA
Parenti I, Garcia Rabaneda LE, Schön H, Novarino G. Neurodevelopmental disorders: From genetics to functional pathways. Trends in Neurosciences.
View | DOI | Download (ext.)
 
[33]
2019 | Journal Article | IST-REx-ID: 105
Marsh A, Novarino G, Lockhart P, Leventer R. 2019. CUGC for pontocerebellar hypoplasia type 9 and spastic paraplegia-63. European Journal of Human Genetics. 27, 161–166.
View | DOI
 
[32]
2019 | Research Data | IST-REx-ID: 6074 | OA
Dotter C, Novarino G. 2019. Supplementary data for the research paper ‘Haploinsufficiency of the intellectual disability gene SETD5 disturbs developmental gene expression and cognition’, IST Austria,p.
View | Files available | DOI
 
[31]
2019 | Journal Article | IST-REx-ID: 6088
Traxl A, Mairinger S, Filip T, Sauberer M, Stanek J, Poschner S, Jäger W, Zoufal V, Novarino G, Tournier N, Bauer M, Wanek T, Langer O. 2019. 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(3), 1282–1293.
View | DOI | PubMed | Europe PMC
 
[30]
2019 | Journal Article | IST-REx-ID: 6896
Oliveira B, Yahya AÇ, Novarino G. 2019. Modeling cell-cell interactions in the brain using cerebral organoids. Brain Research. 1724, 146458.
View | DOI | PubMed | Europe PMC
 
[29]
2019 | Journal Article | IST-REx-ID: 7414
Knaus L, Tarlungeanu D-C, Novarino G. 2019. S.16.03 A homozygous missense mutation in SLC7A5 leads to autism spectrum disorder and microcephaly. European Neuropsychopharmacology. 29(Supplement 6), S11.
View | DOI
 
[28]
2019 | Journal Article | IST-REx-ID: 7415
Morandell J, Nicolas A, Schwarz LA, Novarino G. 2019. S.16.05 Illuminating the role of the e3 ubiquitin ligase cullin3 in brain development and autism. European Neuropsychopharmacology. 29(Supplement 6), S11–S12.
View | DOI
 
[27]
2018 | Journal Article | IST-REx-ID: 456
Novarino G. 2018. Zika-associated microcephaly: Reduce the stress and race for the treatment. Science Translational Medicine. 10(423), eaar7514.
View | DOI
 
[26]
2018 | Journal Article | IST-REx-ID: 546
Sacco R, Cacci E, Novarino G. 2018. Neural stem cells in neuropsychiatric disorders. Current Opinion in Neurobiology. 48(2), 131–138.
View | DOI
 
[25]
2018 | Journal Article | IST-REx-ID: 5888 | OA
Tarlungeanu D-C, Novarino G. 2018. Genomics in neurodevelopmental disorders: an avenue to personalized medicine. Experimental & Molecular Medicine. 50(8), 100.
View | Files available | DOI | PubMed | Europe PMC
 
[24]
2018 | Journal Article | IST-REx-ID: 3 | OA
Deliu E, Arecco N, Morandell J, Dotter C, Contreras X, Girardot C, Käsper E, Kozlova A, Kishi K, Chiaradia I, Noh K, Novarino G. 2018. Haploinsufficiency of the intellectual disability gene SETD5 disturbs developmental gene expression and cognition. Nature Neuroscience. 21(12), 1717–1727.
View | Files available | DOI
 
[23]
2018 | Journal Article | IST-REx-ID: 691 | OA
Marin Valencia I, Novarino G, Johansen A, Rosti B, Issa M, Musaev D, Bhat G, Scott E, Silhavy J, Stanley V, Rosti R, Gleeson J, Imam F, Zaki M, Gleeson J. 2018. A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly epilepsy and autistic features. Journal of Medical Genetics. 55(1), 48–54.
View | DOI | Download (ext.) | PubMed | Europe PMC
 
[22]
2017 | Journal Article | IST-REx-ID: 1228 | OA
Sauerzopf U, Sacco R, Novarino G, Niello M, Weidenauer A, Praschak Rieder N, Sitte H, Willeit M. 2017. Are reprogrammed cells a useful tool for studying dopamine dysfunction in psychotic disorders? A review of the current evidence. European Journal of Neuroscience. 45(1), 45–57.
View | Files available | DOI
 
[21]
2017 | Journal Article | IST-REx-ID: 656
Novarino G. 2017. Modeling Alzheimer’s disease in mice with human neurons. Science Translational Medicine. 9(381), eaam9867.
View | DOI
 
[20]
2017 | Journal Article | IST-REx-ID: 689
Novarino G. 2017. Rett syndrome modeling goes simian. Science Translational Medicine. 9(393), eaan8196.
View | DOI
 
[19]
2017 | Journal Article | IST-REx-ID: 715
Novarino G. 2017. More excitation for Rett syndrome. Science Translational Medicine. 9(405), aao4218.
View | DOI
 
[18]
2017 | Book Chapter | IST-REx-ID: 623
Hill Yardin E, Mckeown S, Novarino G, Grabrucker A. 2017. Extracerebral dysfunction in animal models of autism spectrum disorder. Translational Anatomy and Cell Biology of Autism Spectrum Disorder. Advances in Anatomy Embryology and Cell Biology, ADVSANAT, vol. 224. 159–187.
View | DOI
 
[17]
2017 | Book Chapter | IST-REx-ID: 634
Schroeder J, Deliu E, Novarino G, Schmeisser M. 2017. Genetic and pharmacological reversibility of phenotypes in mouse models of autism spectrum disorder. Translational Anatomy and Cell Biology of Autism Spectrum Disorder. Advances in Anatomy Embryology and Cell Biology, ADVSANAT, vol. 224. 189–211.
View | DOI
 
[16]
2017 | Journal Article | IST-REx-ID: 667
Novarino G. 2017. The antisocial side of antibiotics. Science Translational Medicine. 9(387), 2786.
View | DOI
 
[15]
2017 | Journal Article | IST-REx-ID: 702
Novarino G. 2017. The riddle of CHD8 haploinsufficiency in autism spectrum disorder. Science Translational Medicine. 9(399), eaao0972.
View | DOI
 
[14]
2017 | Journal Article | IST-REx-ID: 731
Novarino G. 2017. The science of love in ASD and ADHD. Science Translational Medicine. 9(411), eaap8168.
View | DOI
 
[13]
2016 | Journal Article | IST-REx-ID: 1183 | OA
Tarlungeanu D-C, Deliu E, Dotter C, Kara M, Janiesch P, Scalise M, Galluccio M, Tesulov M, Morelli E, Sönmez F, Bilgüvar K, Ohgaki R, Kanai Y, Johansen A, Esharif S, Ben Omran T, Topcu M, Schlessinger A, Indiveri C, Duncan K, Caglayan A, Günel M, Gleeson J, Novarino G. 2016. Impaired amino acid transport at the blood brain barrier is a cause of autism spectrum disorder. Cell. 167(6), 1481–1494.
View | Files available | DOI
 
[12]
2015 | Journal Article | IST-REx-ID: 1789 | OA
Kuechler A, Zink A, Wieland T, Lüdecke H, Cremer K, Salviati L, Magini P, Najafi K, Zweier C, Czeschik J, Aretz S, Endele S, Tamburrino F, Pinato C, Clementi M, Gundlach J, Maylahn C, Mazzanti L, Wohlleber E, Schwarzmayr T, Kariminejad R, Schlessinger A, Wieczorek D, Strom T, Novarino G, Engels H. 2015. Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome. European Journal of Human Genetics. 23(6), 753–760.
View | DOI | Download (ext.) | PubMed | Europe PMC
 
[11]
2014 | Journal Article | IST-REx-ID: 1791
Baek S, Kerjan G, Bielas S, Lee J, Fenstermaker A, Novarino G, Gleeson J. 2014. Off-target effect of doublecortin family shRNA on neuronal migration associated with endogenous MicroRNA dysregulation. Neuron. 82(6), 1255–1262.
View | DOI
 
[10]
2014 | Journal Article | IST-REx-ID: 1916 | OA
Novarino G, Fenstermaker A, Zaki M, Hofree M, Silhavy J, Heiberg A, Abdellateef M, Rosti B, Scott E, Mansour L, Masri A, Kayserili H, Al Aama J, Abdel Salam G, Karminejad A, Kara M, Kara B, Bozorgmehri B, Ben Omran T, Mojahedi F, Mahmoud I, Bouslam N, Bouhouche A, Benomar A, Hanein S, Raymond L, Forlani S, Mascaro M, Selim L, Shehata N, Al Allawi N, Bindu P, Azam M, Günel M, Caglayan A, Bilgüvar K, Tolun A, Issa M, Schroth J, Spencer E, Rosti R, Akizu N, Vaux K, Johansen A, Koh A, Megahed H, Dürr A, Brice A, Stévanin G, Gabriel S, Ideker T, Gleeson J. 2014. Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. Science. 343(6170), 506–511.
View | DOI | Download (ext.) | PubMed | Europe PMC
 
[9]
2013 | Journal Article | IST-REx-ID: 1790
Novarino G, Baek S, Gleeson J. 2013. The sacred disease: The puzzling genetics of epileptic disorders. Neuron. 80(1), 9–11.
View | DOI
 
[8]
2012 | Journal Article | IST-REx-ID: 2313
Dixon Salazar T, Silhavy J, Udpa N, Schroth J, Bielas S, Schaffer A, Olvera J, Bafna V, Zaki M, Abdel Salam G, Mansour L, Selim L, Abdel Hadi S, Marzouki N, Ben Omran T, Al Saana N, Sönmez F, Celep F, Azam M, Hill K, Collazo A, Fenstermaker A, Novarino G, Akizu N, Garimella K, Sougnez C, Russ C, Gabriel S, Gleeson J. 2012. Exome sequencing can improve diagnosis and alter patient management. Science Translational Medicine. 4(138).
View | DOI
 
[7]
2012 | Journal Article | IST-REx-ID: 2314
Novarino G, El Fishawy P, Kayserili H, Meguid N, Scott E, Schroth J, Silhavy J, Kara M, Khalil R, Ben Omran T, Ercan Sencicek A, Hashish A, Sanders S, Gupta A, Hashem H, Matern D, Gabriel S, Sweetman L, Rahimi Y, Harris R, State M, Gleeson J. 2012. Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy. Science. 338(6105), 394–397.
View | DOI
 
[6]
2011 | Book Review | IST-REx-ID: 2312
Novarino G, Akizu N, Gleeson J. 2011. Modeling human disease in humans: The ciliopathies. Cell. 147(1), 70–79.
View | DOI
 
[5]
2010 | Book Chapter | IST-REx-ID: 2309
Stauber T, Novarino G, Jentsch T. 2010. The CLC family of chloride channels and transporters. Physiology and Pathology of chloride transporters and channels in the nervous system. 209–231.
View | DOI
 
[4]
2010 | Journal Article | IST-REx-ID: 2310
Novarino G, Weinert S, Rickheit G, Jentsch T. 2010. Endosomal chloride-proton exchange rather than chloride conductance is crucial for renal endocytosis. Science. 328(5984), 1398–1401.
View | DOI
 
[3]
2010 | Journal Article | IST-REx-ID: 2311
Rickheit G, Wartosch L, Schaffer S, Stobrawa S, Novarino G, Weinert S, Jentsch T. 2010. 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(23), 17595–17603.
View | DOI
 
[2]
2005 | Journal Article | IST-REx-ID: 2307
Schwartz J, Novarino G, Piston D, Defelice L. 2005. Substrate binding stoichiometry and kinetics of the norepinephrine transporter. Journal of Biological Chemistry. 280(19), 19177–19184.
View | DOI
 
[1]
2004 | Journal Article | IST-REx-ID: 2308
Novarino G, Fabrizi C, Tonini R, Denti M, Malchiodi A, Lauro G, Sacchetti B, Paradisi S, Ferroni A, Curmi P, Breit S, Mazzanti M. 2004. Involvement of the intracellular ion channel CLIC1 in microglia-mediated β-amyloid-induced neurotoxicity. Journal of Neuroscience. 24(23), 5322–5330.
View | DOI
 

Search

Filter Publications

36 Publications

Mark all

[36]
2020 | Journal Article | IST-REx-ID: 7586 | OA
Weinert S, Gimber N, Deuschel D, Stuhlmann T, Puchkov D, Farsi Z, Ludwig CF, Novarino G, López-Cayuqueo KI, Planells-Cases R, Jentsch TJ. Uncoupling endosomal CLC chloride/proton exchange causes severe neurodegeneration. EMBO Journal., e103358.
View | Files available | DOI
 
[35]
2020 | Preprint | IST-REx-ID: 7800 | OA
Morandell J, Schwarz LA, Basilico B, Tasciyan S, Nicolas A, Sommer CM, Kreuzinger C, Knaus L, Dobler Z, Cacci E, Danzl JG, Novarino G. Cul3 regulates cytoskeleton protein homeostasis and cell migration during a critical window of brain development.
View | Files available | Download (ext.)
 
[34]
2020 | Journal Article | IST-REx-ID: 7957 | OA
Parenti I, Garcia Rabaneda LE, Schön H, Novarino G. Neurodevelopmental disorders: From genetics to functional pathways. Trends in Neurosciences.
View | DOI | Download (ext.)
 
[33]
2019 | Journal Article | IST-REx-ID: 105
Marsh A, Novarino G, Lockhart P, Leventer R. 2019. CUGC for pontocerebellar hypoplasia type 9 and spastic paraplegia-63. European Journal of Human Genetics. 27, 161–166.
View | DOI
 
[32]
2019 | Research Data | IST-REx-ID: 6074 | OA
Dotter C, Novarino G. 2019. Supplementary data for the research paper ‘Haploinsufficiency of the intellectual disability gene SETD5 disturbs developmental gene expression and cognition’, IST Austria,p.
View | Files available | DOI
 
[31]
2019 | Journal Article | IST-REx-ID: 6088
Traxl A, Mairinger S, Filip T, Sauberer M, Stanek J, Poschner S, Jäger W, Zoufal V, Novarino G, Tournier N, Bauer M, Wanek T, Langer O. 2019. 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(3), 1282–1293.
View | DOI | PubMed | Europe PMC
 
[30]
2019 | Journal Article | IST-REx-ID: 6896
Oliveira B, Yahya AÇ, Novarino G. 2019. Modeling cell-cell interactions in the brain using cerebral organoids. Brain Research. 1724, 146458.
View | DOI | PubMed | Europe PMC
 
[29]
2019 | Journal Article | IST-REx-ID: 7414
Knaus L, Tarlungeanu D-C, Novarino G. 2019. S.16.03 A homozygous missense mutation in SLC7A5 leads to autism spectrum disorder and microcephaly. European Neuropsychopharmacology. 29(Supplement 6), S11.
View | DOI
 
[28]
2019 | Journal Article | IST-REx-ID: 7415
Morandell J, Nicolas A, Schwarz LA, Novarino G. 2019. S.16.05 Illuminating the role of the e3 ubiquitin ligase cullin3 in brain development and autism. European Neuropsychopharmacology. 29(Supplement 6), S11–S12.
View | DOI
 
[27]
2018 | Journal Article | IST-REx-ID: 456
Novarino G. 2018. Zika-associated microcephaly: Reduce the stress and race for the treatment. Science Translational Medicine. 10(423), eaar7514.
View | DOI
 
[26]
2018 | Journal Article | IST-REx-ID: 546
Sacco R, Cacci E, Novarino G. 2018. Neural stem cells in neuropsychiatric disorders. Current Opinion in Neurobiology. 48(2), 131–138.
View | DOI
 
[25]
2018 | Journal Article | IST-REx-ID: 5888 | OA
Tarlungeanu D-C, Novarino G. 2018. Genomics in neurodevelopmental disorders: an avenue to personalized medicine. Experimental & Molecular Medicine. 50(8), 100.
View | Files available | DOI | PubMed | Europe PMC
 
[24]
2018 | Journal Article | IST-REx-ID: 3 | OA
Deliu E, Arecco N, Morandell J, Dotter C, Contreras X, Girardot C, Käsper E, Kozlova A, Kishi K, Chiaradia I, Noh K, Novarino G. 2018. Haploinsufficiency of the intellectual disability gene SETD5 disturbs developmental gene expression and cognition. Nature Neuroscience. 21(12), 1717–1727.
View | Files available | DOI
 
[23]
2018 | Journal Article | IST-REx-ID: 691 | OA
Marin Valencia I, Novarino G, Johansen A, Rosti B, Issa M, Musaev D, Bhat G, Scott E, Silhavy J, Stanley V, Rosti R, Gleeson J, Imam F, Zaki M, Gleeson J. 2018. A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly epilepsy and autistic features. Journal of Medical Genetics. 55(1), 48–54.
View | DOI | Download (ext.) | PubMed | Europe PMC
 
[22]
2017 | Journal Article | IST-REx-ID: 1228 | OA
Sauerzopf U, Sacco R, Novarino G, Niello M, Weidenauer A, Praschak Rieder N, Sitte H, Willeit M. 2017. Are reprogrammed cells a useful tool for studying dopamine dysfunction in psychotic disorders? A review of the current evidence. European Journal of Neuroscience. 45(1), 45–57.
View | Files available | DOI
 
[21]
2017 | Journal Article | IST-REx-ID: 656
Novarino G. 2017. Modeling Alzheimer’s disease in mice with human neurons. Science Translational Medicine. 9(381), eaam9867.
View | DOI
 
[20]
2017 | Journal Article | IST-REx-ID: 689
Novarino G. 2017. Rett syndrome modeling goes simian. Science Translational Medicine. 9(393), eaan8196.
View | DOI
 
[19]
2017 | Journal Article | IST-REx-ID: 715
Novarino G. 2017. More excitation for Rett syndrome. Science Translational Medicine. 9(405), aao4218.
View | DOI
 
[18]
2017 | Book Chapter | IST-REx-ID: 623
Hill Yardin E, Mckeown S, Novarino G, Grabrucker A. 2017. Extracerebral dysfunction in animal models of autism spectrum disorder. Translational Anatomy and Cell Biology of Autism Spectrum Disorder. Advances in Anatomy Embryology and Cell Biology, ADVSANAT, vol. 224. 159–187.
View | DOI
 
[17]
2017 | Book Chapter | IST-REx-ID: 634
Schroeder J, Deliu E, Novarino G, Schmeisser M. 2017. Genetic and pharmacological reversibility of phenotypes in mouse models of autism spectrum disorder. Translational Anatomy and Cell Biology of Autism Spectrum Disorder. Advances in Anatomy Embryology and Cell Biology, ADVSANAT, vol. 224. 189–211.
View | DOI
 
[16]
2017 | Journal Article | IST-REx-ID: 667
Novarino G. 2017. The antisocial side of antibiotics. Science Translational Medicine. 9(387), 2786.
View | DOI
 
[15]
2017 | Journal Article | IST-REx-ID: 702
Novarino G. 2017. The riddle of CHD8 haploinsufficiency in autism spectrum disorder. Science Translational Medicine. 9(399), eaao0972.
View | DOI
 
[14]
2017 | Journal Article | IST-REx-ID: 731
Novarino G. 2017. The science of love in ASD and ADHD. Science Translational Medicine. 9(411), eaap8168.
View | DOI
 
[13]
2016 | Journal Article | IST-REx-ID: 1183 | OA
Tarlungeanu D-C, Deliu E, Dotter C, Kara M, Janiesch P, Scalise M, Galluccio M, Tesulov M, Morelli E, Sönmez F, Bilgüvar K, Ohgaki R, Kanai Y, Johansen A, Esharif S, Ben Omran T, Topcu M, Schlessinger A, Indiveri C, Duncan K, Caglayan A, Günel M, Gleeson J, Novarino G. 2016. Impaired amino acid transport at the blood brain barrier is a cause of autism spectrum disorder. Cell. 167(6), 1481–1494.
View | Files available | DOI
 
[12]
2015 | Journal Article | IST-REx-ID: 1789 | OA
Kuechler A, Zink A, Wieland T, Lüdecke H, Cremer K, Salviati L, Magini P, Najafi K, Zweier C, Czeschik J, Aretz S, Endele S, Tamburrino F, Pinato C, Clementi M, Gundlach J, Maylahn C, Mazzanti L, Wohlleber E, Schwarzmayr T, Kariminejad R, Schlessinger A, Wieczorek D, Strom T, Novarino G, Engels H. 2015. Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome. European Journal of Human Genetics. 23(6), 753–760.
View | DOI | Download (ext.) | PubMed | Europe PMC
 
[11]
2014 | Journal Article | IST-REx-ID: 1791
Baek S, Kerjan G, Bielas S, Lee J, Fenstermaker A, Novarino G, Gleeson J. 2014. Off-target effect of doublecortin family shRNA on neuronal migration associated with endogenous MicroRNA dysregulation. Neuron. 82(6), 1255–1262.
View | DOI
 
[10]
2014 | Journal Article | IST-REx-ID: 1916 | OA
Novarino G, Fenstermaker A, Zaki M, Hofree M, Silhavy J, Heiberg A, Abdellateef M, Rosti B, Scott E, Mansour L, Masri A, Kayserili H, Al Aama J, Abdel Salam G, Karminejad A, Kara M, Kara B, Bozorgmehri B, Ben Omran T, Mojahedi F, Mahmoud I, Bouslam N, Bouhouche A, Benomar A, Hanein S, Raymond L, Forlani S, Mascaro M, Selim L, Shehata N, Al Allawi N, Bindu P, Azam M, Günel M, Caglayan A, Bilgüvar K, Tolun A, Issa M, Schroth J, Spencer E, Rosti R, Akizu N, Vaux K, Johansen A, Koh A, Megahed H, Dürr A, Brice A, Stévanin G, Gabriel S, Ideker T, Gleeson J. 2014. Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. Science. 343(6170), 506–511.
View | DOI | Download (ext.) | PubMed | Europe PMC
 
[9]
2013 | Journal Article | IST-REx-ID: 1790
Novarino G, Baek S, Gleeson J. 2013. The sacred disease: The puzzling genetics of epileptic disorders. Neuron. 80(1), 9–11.
View | DOI
 
[8]
2012 | Journal Article | IST-REx-ID: 2313
Dixon Salazar T, Silhavy J, Udpa N, Schroth J, Bielas S, Schaffer A, Olvera J, Bafna V, Zaki M, Abdel Salam G, Mansour L, Selim L, Abdel Hadi S, Marzouki N, Ben Omran T, Al Saana N, Sönmez F, Celep F, Azam M, Hill K, Collazo A, Fenstermaker A, Novarino G, Akizu N, Garimella K, Sougnez C, Russ C, Gabriel S, Gleeson J. 2012. Exome sequencing can improve diagnosis and alter patient management. Science Translational Medicine. 4(138).
View | DOI
 
[7]
2012 | Journal Article | IST-REx-ID: 2314
Novarino G, El Fishawy P, Kayserili H, Meguid N, Scott E, Schroth J, Silhavy J, Kara M, Khalil R, Ben Omran T, Ercan Sencicek A, Hashish A, Sanders S, Gupta A, Hashem H, Matern D, Gabriel S, Sweetman L, Rahimi Y, Harris R, State M, Gleeson J. 2012. Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy. Science. 338(6105), 394–397.
View | DOI
 
[6]
2011 | Book Review | IST-REx-ID: 2312
Novarino G, Akizu N, Gleeson J. 2011. Modeling human disease in humans: The ciliopathies. Cell. 147(1), 70–79.
View | DOI
 
[5]
2010 | Book Chapter | IST-REx-ID: 2309
Stauber T, Novarino G, Jentsch T. 2010. The CLC family of chloride channels and transporters. Physiology and Pathology of chloride transporters and channels in the nervous system. 209–231.
View | DOI
 
[4]
2010 | Journal Article | IST-REx-ID: 2310
Novarino G, Weinert S, Rickheit G, Jentsch T. 2010. Endosomal chloride-proton exchange rather than chloride conductance is crucial for renal endocytosis. Science. 328(5984), 1398–1401.
View | DOI
 
[3]
2010 | Journal Article | IST-REx-ID: 2311
Rickheit G, Wartosch L, Schaffer S, Stobrawa S, Novarino G, Weinert S, Jentsch T. 2010. 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(23), 17595–17603.
View | DOI
 
[2]
2005 | Journal Article | IST-REx-ID: 2307
Schwartz J, Novarino G, Piston D, Defelice L. 2005. Substrate binding stoichiometry and kinetics of the norepinephrine transporter. Journal of Biological Chemistry. 280(19), 19177–19184.
View | DOI
 
[1]
2004 | Journal Article | IST-REx-ID: 2308
Novarino G, Fabrizi C, Tonini R, Denti M, Malchiodi A, Lauro G, Sacchetti B, Paradisi S, Ferroni A, Curmi P, Breit S, Mazzanti M. 2004. Involvement of the intracellular ion channel CLIC1 in microglia-mediated β-amyloid-induced neurotoxicity. Journal of Neuroscience. 24(23), 5322–5330.
View | DOI
 

Search

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