36 Publications

Mark all

[36]
2020 | Preprint | IST-REx-ID: 7800   OA
Cul3 regulates cytoskeleton protein homeostasis and cell migration during a critical window of brain development
J. Morandell, L.A. Schwarz, B. Basilico, S. Tasciyan, A. Nicolas, C.M. Sommer, C. Kreuzinger, L. Knaus, Z. Dobler, E. Cacci, J.G. Danzl, G. Novarino, (n.d.).
View | Files available | Download (ext.)
 
[35]
2020 | Journal Article | IST-REx-ID: 7957   OA
Neurodevelopmental disorders: From genetics to functional pathways
I. Parenti, L.E. Garcia Rabaneda, H. Schön, G. Novarino, Trends in Neurosciences (n.d.).
View | DOI | Download (ext.)
 
[34]
2020 | Journal Article | IST-REx-ID: 7586   OA
Uncoupling endosomal CLC chloride/proton exchange causes severe neurodegeneration
S. Weinert, N. Gimber, D. Deuschel, T. Stuhlmann, D. Puchkov, Z. Farsi, C.F. Ludwig, G. Novarino, K.I. López-Cayuqueo, R. Planells-Cases, T.J. Jentsch, EMBO Journal (n.d.) e103358.
View | Files available | DOI
 
[33]
2019 | Journal Article | IST-REx-ID: 105
CUGC for pontocerebellar hypoplasia type 9 and spastic paraplegia-63
A. Marsh, G. Novarino, P. Lockhart, R. Leventer, European Journal of Human Genetics 27 (2019) 161–166.
View | DOI
 
[32]
2019 | Journal Article | IST-REx-ID: 6896
Modeling cell-cell interactions in the brain using cerebral organoids
B. Oliveira, A.Ç. Yahya, G. Novarino, Brain Research 1724 (2019).
View | DOI | PubMed | Europe PMC
 
[31]
2019 | Journal Article | IST-REx-ID: 7414
S.16.03 A homozygous missense mutation in SLC7A5 leads to autism spectrum disorder and microcephaly
L. Knaus, D.-C. Tarlungeanu, G. Novarino, European Neuropsychopharmacology 29 (2019) S11.
View | DOI
 
[30]
2019 | Research Data | IST-REx-ID: 6074
Supplementary data for the research paper "Haploinsufficiency of the intellectual disability gene SETD5 disturbs developmental gene expression and cognition"
C. Dotter, 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
S.16.05 Illuminating the role of the e3 ubiquitin ligase cullin3 in brain development and autism
J. Morandell, A. Nicolas, L.A. Schwarz, G. Novarino, European Neuropsychopharmacology 29 (2019) S11–S12.
View | DOI
 
[28]
2019 | Journal Article | IST-REx-ID: 6088
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
A. Traxl, S. Mairinger, T. Filip, M. Sauberer, J. Stanek, S. Poschner, W. Jäger, V. Zoufal, G. Novarino, N. Tournier, M. Bauer, T. Wanek, O. Langer, Molecular Pharmaceutics 16 (2019) 1282–1293.
View | DOI | PubMed | Europe PMC
 
[27]
2018 | Journal Article | IST-REx-ID: 456
Zika-associated microcephaly: Reduce the stress and race for the treatment
G. Novarino, Science Translational Medicine 10 (2018).
View | DOI
 
[26]
2018 | Journal Article | IST-REx-ID: 691   OA
A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly epilepsy and autistic features
I. Marin Valencia, G. Novarino, A. Johansen, B. Rosti, M. Issa, D. Musaev, G. Bhat, E. Scott, J. Silhavy, V. Stanley, R. Rosti, J. Gleeson, F. Imam, M. Zaki, J. Gleeson, Journal of Medical Genetics 55 (2018) 48–54.
View | DOI | Download (ext.) | PubMed | Europe PMC
 
[25]
2018 | Journal Article | IST-REx-ID: 546
Neural stem cells in neuropsychiatric disorders
R. Sacco, E. Cacci, G. Novarino, Current Opinion in Neurobiology 48 (2018) 131–138.
View | DOI
 
[24]
2018 | Journal Article | IST-REx-ID: 5888   OA
Genomics in neurodevelopmental disorders: an avenue to personalized medicine
D.-C. Tarlungeanu, G. Novarino, Experimental & Molecular Medicine 50 (2018).
View | Files available | DOI | PubMed | Europe PMC
 
[23]
2018 | Journal Article | IST-REx-ID: 3   OA
Haploinsufficiency of the intellectual disability gene SETD5 disturbs developmental gene expression and cognition
E. Deliu, N. Arecco, J. Morandell, C. Dotter, X. Contreras, C. Girardot, E. Käsper, A. Kozlova, K. Kishi, I. Chiaradia, K. Noh, G. Novarino, Nature Neuroscience 21 (2018) 1717–1727.
View | Files available | DOI
 
[22]
2017 | Journal Article | IST-REx-ID: 667
The antisocial side of antibiotics
G. Novarino, Science Translational Medicine 9 (2017).
View | DOI
 
[21]
2017 | Journal Article | IST-REx-ID: 656
Modeling Alzheimer's disease in mice with human neurons
G. Novarino, Science Translational Medicine 9 (2017).
View | DOI
 
[20]
2017 | Journal Article | IST-REx-ID: 702
The riddle of CHD8 haploinsufficiency in autism spectrum disorder
G. Novarino, Science Translational Medicine 9 (2017) eaao0972.
View | DOI
 
[19]
2017 | Journal Article | IST-REx-ID: 715
More excitation for Rett syndrome
G. Novarino, Science Translational Medicine 9 (2017).
View | DOI
 
[18]
2017 | Journal Article | IST-REx-ID: 689
Rett syndrome modeling goes simian
G. Novarino, Science Translational Medicine 9 (2017).
View | DOI
 
[17]
2017 | Book Chapter | IST-REx-ID: 634
Genetic and pharmacological reversibility of phenotypes in mouse models of autism spectrum disorder
J. Schroeder, E. Deliu, G. Novarino, M. Schmeisser, in:, M. Schmeisser, T. Boekers (Eds.), Translational Anatomy and Cell Biology of Autism Spectrum Disorder, Springer, 2017, pp. 189–211.
View | DOI
 
[16]
2017 | Journal Article | IST-REx-ID: 1228   OA
Are reprogrammed cells a useful tool for studying dopamine dysfunction in psychotic disorders? A review of the current evidence
U. Sauerzopf, R. Sacco, G. Novarino, M. Niello, A. Weidenauer, N. Praschak Rieder, H. Sitte, M. Willeit, European Journal of Neuroscience 45 (2017) 45–57.
View | Files available | DOI
 
[15]
2017 | Book Chapter | IST-REx-ID: 623
Extracerebral dysfunction in animal models of autism spectrum disorder
E. Hill Yardin, S. Mckeown, G. Novarino, A. Grabrucker, in:, M. Schmeisser, T. Boekers (Eds.), Translational Anatomy and Cell Biology of Autism Spectrum Disorder, Springer, 2017, pp. 159–187.
View | DOI
 
[14]
2017 | Journal Article | IST-REx-ID: 731
The science of love in ASD and ADHD
G. Novarino, Science Translational Medicine 9 (2017).
View | DOI
 
[13]
2016 | Journal Article | IST-REx-ID: 1183
Impaired amino acid transport at the blood brain barrier is a cause of autism spectrum disorder
D.-C. Tarlungeanu, E. Deliu, C. Dotter, M. Kara, P. Janiesch, M. Scalise, M. Galluccio, M. Tesulov, E. Morelli, F. Sönmez, K. Bilgüvar, R. Ohgaki, Y. Kanai, A. Johansen, S. Esharif, T. Ben Omran, M. Topcu, A. Schlessinger, C. Indiveri, K. Duncan, A. Caglayan, M. Günel, J. Gleeson, G. Novarino, Cell 167 (2016) 1481–1494.
View | Files available | DOI
 
[12]
2015 | Journal Article | IST-REx-ID: 1789   OA
Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome
A. Kuechler, A. Zink, T. Wieland, H. Lüdecke, K. Cremer, L. Salviati, P. Magini, K. Najafi, C. Zweier, J. Czeschik, S. Aretz, S. Endele, F. Tamburrino, C. Pinato, M. Clementi, J. Gundlach, C. Maylahn, L. Mazzanti, E. Wohlleber, T. Schwarzmayr, R. Kariminejad, A. Schlessinger, D. Wieczorek, T. Strom, G. Novarino, H. Engels, European Journal of Human Genetics 23 (2015) 753–760.
View | DOI | Download (ext.) | PubMed | Europe PMC
 
[11]
2014 | Journal Article | IST-REx-ID: 1916   OA
Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders
G. Novarino, A. Fenstermaker, M. Zaki, M. Hofree, J. Silhavy, A. Heiberg, M. Abdellateef, B. Rosti, E. Scott, L. Mansour, A. Masri, H. Kayserili, J. Al Aama, G. Abdel Salam, A. Karminejad, M. Kara, B. Kara, B. Bozorgmehri, T. Ben Omran, F. Mojahedi, I. Mahmoud, N. Bouslam, A. Bouhouche, A. Benomar, S. Hanein, L. Raymond, S. Forlani, M. Mascaro, L. Selim, N. Shehata, N. Al Allawi, P. Bindu, M. Azam, M. Günel, A. Caglayan, K. Bilgüvar, A. Tolun, M. Issa, J. Schroth, E. Spencer, R. Rosti, N. Akizu, K. Vaux, A. Johansen, A. Koh, H. Megahed, A. Dürr, A. Brice, G. Stévanin, S. Gabriel, T. Ideker, J. Gleeson, Science 343 (2014) 506–511.
View | DOI | Download (ext.) | PubMed | Europe PMC
 
[10]
2014 | Journal Article | IST-REx-ID: 1791
Off-target effect of doublecortin family shRNA on neuronal migration associated with endogenous MicroRNA dysregulation
S. Baek, G. Kerjan, S. Bielas, J. Lee, A. Fenstermaker, G. Novarino, J. Gleeson, Neuron 82 (2014) 1255–1262.
View | DOI
 
[9]
2013 | Journal Article | IST-REx-ID: 1790
The sacred disease: The puzzling genetics of epileptic disorders
G. Novarino, S. Baek, J. Gleeson, Neuron 80 (2013) 9–11.
View | DOI
 
[8]
2012 | Journal Article | IST-REx-ID: 2313
Exome sequencing can improve diagnosis and alter patient management
T. Dixon Salazar, J. Silhavy, N. Udpa, J. Schroth, S. Bielas, A. Schaffer, J. Olvera, V. Bafna, M. Zaki, G. Abdel Salam, L. Mansour, L. Selim, S. Abdel Hadi, N. Marzouki, T. Ben Omran, N. Al Saana, F. Sönmez, F. Celep, M. Azam, K. Hill, A. Collazo, A. Fenstermaker, G. Novarino, N. Akizu, K. Garimella, C. Sougnez, C. Russ, S. Gabriel, J. Gleeson, Science Translational Medicine 4 (2012).
View | DOI
 
[7]
2012 | Journal Article | IST-REx-ID: 2314
Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy
G. Novarino, P. El Fishawy, H. Kayserili, N. Meguid, E. Scott, J. Schroth, J. Silhavy, M. Kara, R. Khalil, T. Ben Omran, A. Ercan Sencicek, A. Hashish, S. Sanders, A. Gupta, H. Hashem, D. Matern, S. Gabriel, L. Sweetman, Y. Rahimi, R. Harris, M. State, J. Gleeson, Science 338 (2012) 394–397.
View | DOI
 
[6]
2011 | Book Review | IST-REx-ID: 2312
Modeling human disease in humans: The ciliopathies
G. Novarino, N. Akizu, J. Gleeson, Cell 147 (2011) 70–79.
View | DOI
 
[5]
2010 | Book Chapter | IST-REx-ID: 2309
The CLC family of chloride channels and transporters
T. Stauber, G. Novarino, T. Jentsch, 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
Role of ClC-5 in renal endocytosis is unique among ClC exchangers and does not require PY-motif-dependent ubiquitylation
G. Rickheit, L. Wartosch, S. Schaffer, S. Stobrawa, G. Novarino, S. Weinert, T. Jentsch, Journal of Biological Chemistry 285 (2010) 17595–17603.
View | DOI
 
[3]
2010 | Journal Article | IST-REx-ID: 2310
Endosomal chloride-proton exchange rather than chloride conductance is crucial for renal endocytosis
G. Novarino, S. Weinert, G. Rickheit, T. Jentsch, Science 328 (2010) 1398–1401.
View | DOI
 
[2]
2005 | Journal Article | IST-REx-ID: 2307
Substrate binding stoichiometry and kinetics of the norepinephrine transporter
J. Schwartz, G. Novarino, D. Piston, L. Defelice, Journal of Biological Chemistry 280 (2005) 19177–19184.
View | DOI
 
[1]
2004 | Journal Article | IST-REx-ID: 2308
Involvement of the intracellular ion channel CLIC1 in microglia-mediated β-amyloid-induced neurotoxicity
G. Novarino, C. Fabrizi, R. Tonini, M. Denti, A. Malchiodi, G. Lauro, B. Sacchetti, S. Paradisi, A. Ferroni, P. Curmi, S. Breit, M. Mazzanti, Journal of Neuroscience 24 (2004) 5322–5330.
View | DOI
 

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36 Publications

Mark all

[36]
2020 | Preprint | IST-REx-ID: 7800   OA
Cul3 regulates cytoskeleton protein homeostasis and cell migration during a critical window of brain development
J. Morandell, L.A. Schwarz, B. Basilico, S. Tasciyan, A. Nicolas, C.M. Sommer, C. Kreuzinger, L. Knaus, Z. Dobler, E. Cacci, J.G. Danzl, G. Novarino, (n.d.).
View | Files available | Download (ext.)
 
[35]
2020 | Journal Article | IST-REx-ID: 7957   OA
Neurodevelopmental disorders: From genetics to functional pathways
I. Parenti, L.E. Garcia Rabaneda, H. Schön, G. Novarino, Trends in Neurosciences (n.d.).
View | DOI | Download (ext.)
 
[34]
2020 | Journal Article | IST-REx-ID: 7586   OA
Uncoupling endosomal CLC chloride/proton exchange causes severe neurodegeneration
S. Weinert, N. Gimber, D. Deuschel, T. Stuhlmann, D. Puchkov, Z. Farsi, C.F. Ludwig, G. Novarino, K.I. López-Cayuqueo, R. Planells-Cases, T.J. Jentsch, EMBO Journal (n.d.) e103358.
View | Files available | DOI
 
[33]
2019 | Journal Article | IST-REx-ID: 105
CUGC for pontocerebellar hypoplasia type 9 and spastic paraplegia-63
A. Marsh, G. Novarino, P. Lockhart, R. Leventer, European Journal of Human Genetics 27 (2019) 161–166.
View | DOI
 
[32]
2019 | Journal Article | IST-REx-ID: 6896
Modeling cell-cell interactions in the brain using cerebral organoids
B. Oliveira, A.Ç. Yahya, G. Novarino, Brain Research 1724 (2019).
View | DOI | PubMed | Europe PMC
 
[31]
2019 | Journal Article | IST-REx-ID: 7414
S.16.03 A homozygous missense mutation in SLC7A5 leads to autism spectrum disorder and microcephaly
L. Knaus, D.-C. Tarlungeanu, G. Novarino, European Neuropsychopharmacology 29 (2019) S11.
View | DOI
 
[30]
2019 | Research Data | IST-REx-ID: 6074
Supplementary data for the research paper "Haploinsufficiency of the intellectual disability gene SETD5 disturbs developmental gene expression and cognition"
C. Dotter, 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
S.16.05 Illuminating the role of the e3 ubiquitin ligase cullin3 in brain development and autism
J. Morandell, A. Nicolas, L.A. Schwarz, G. Novarino, European Neuropsychopharmacology 29 (2019) S11–S12.
View | DOI
 
[28]
2019 | Journal Article | IST-REx-ID: 6088
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
A. Traxl, S. Mairinger, T. Filip, M. Sauberer, J. Stanek, S. Poschner, W. Jäger, V. Zoufal, G. Novarino, N. Tournier, M. Bauer, T. Wanek, O. Langer, Molecular Pharmaceutics 16 (2019) 1282–1293.
View | DOI | PubMed | Europe PMC
 
[27]
2018 | Journal Article | IST-REx-ID: 456
Zika-associated microcephaly: Reduce the stress and race for the treatment
G. Novarino, Science Translational Medicine 10 (2018).
View | DOI
 
[26]
2018 | Journal Article | IST-REx-ID: 691   OA
A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly epilepsy and autistic features
I. Marin Valencia, G. Novarino, A. Johansen, B. Rosti, M. Issa, D. Musaev, G. Bhat, E. Scott, J. Silhavy, V. Stanley, R. Rosti, J. Gleeson, F. Imam, M. Zaki, J. Gleeson, Journal of Medical Genetics 55 (2018) 48–54.
View | DOI | Download (ext.) | PubMed | Europe PMC
 
[25]
2018 | Journal Article | IST-REx-ID: 546
Neural stem cells in neuropsychiatric disorders
R. Sacco, E. Cacci, G. Novarino, Current Opinion in Neurobiology 48 (2018) 131–138.
View | DOI
 
[24]
2018 | Journal Article | IST-REx-ID: 5888   OA
Genomics in neurodevelopmental disorders: an avenue to personalized medicine
D.-C. Tarlungeanu, G. Novarino, Experimental & Molecular Medicine 50 (2018).
View | Files available | DOI | PubMed | Europe PMC
 
[23]
2018 | Journal Article | IST-REx-ID: 3   OA
Haploinsufficiency of the intellectual disability gene SETD5 disturbs developmental gene expression and cognition
E. Deliu, N. Arecco, J. Morandell, C. Dotter, X. Contreras, C. Girardot, E. Käsper, A. Kozlova, K. Kishi, I. Chiaradia, K. Noh, G. Novarino, Nature Neuroscience 21 (2018) 1717–1727.
View | Files available | DOI
 
[22]
2017 | Journal Article | IST-REx-ID: 667
The antisocial side of antibiotics
G. Novarino, Science Translational Medicine 9 (2017).
View | DOI
 
[21]
2017 | Journal Article | IST-REx-ID: 656
Modeling Alzheimer's disease in mice with human neurons
G. Novarino, Science Translational Medicine 9 (2017).
View | DOI
 
[20]
2017 | Journal Article | IST-REx-ID: 702
The riddle of CHD8 haploinsufficiency in autism spectrum disorder
G. Novarino, Science Translational Medicine 9 (2017) eaao0972.
View | DOI
 
[19]
2017 | Journal Article | IST-REx-ID: 715
More excitation for Rett syndrome
G. Novarino, Science Translational Medicine 9 (2017).
View | DOI
 
[18]
2017 | Journal Article | IST-REx-ID: 689
Rett syndrome modeling goes simian
G. Novarino, Science Translational Medicine 9 (2017).
View | DOI
 
[17]
2017 | Book Chapter | IST-REx-ID: 634
Genetic and pharmacological reversibility of phenotypes in mouse models of autism spectrum disorder
J. Schroeder, E. Deliu, G. Novarino, M. Schmeisser, in:, M. Schmeisser, T. Boekers (Eds.), Translational Anatomy and Cell Biology of Autism Spectrum Disorder, Springer, 2017, pp. 189–211.
View | DOI
 
[16]
2017 | Journal Article | IST-REx-ID: 1228   OA
Are reprogrammed cells a useful tool for studying dopamine dysfunction in psychotic disorders? A review of the current evidence
U. Sauerzopf, R. Sacco, G. Novarino, M. Niello, A. Weidenauer, N. Praschak Rieder, H. Sitte, M. Willeit, European Journal of Neuroscience 45 (2017) 45–57.
View | Files available | DOI
 
[15]
2017 | Book Chapter | IST-REx-ID: 623
Extracerebral dysfunction in animal models of autism spectrum disorder
E. Hill Yardin, S. Mckeown, G. Novarino, A. Grabrucker, in:, M. Schmeisser, T. Boekers (Eds.), Translational Anatomy and Cell Biology of Autism Spectrum Disorder, Springer, 2017, pp. 159–187.
View | DOI
 
[14]
2017 | Journal Article | IST-REx-ID: 731
The science of love in ASD and ADHD
G. Novarino, Science Translational Medicine 9 (2017).
View | DOI
 
[13]
2016 | Journal Article | IST-REx-ID: 1183
Impaired amino acid transport at the blood brain barrier is a cause of autism spectrum disorder
D.-C. Tarlungeanu, E. Deliu, C. Dotter, M. Kara, P. Janiesch, M. Scalise, M. Galluccio, M. Tesulov, E. Morelli, F. Sönmez, K. Bilgüvar, R. Ohgaki, Y. Kanai, A. Johansen, S. Esharif, T. Ben Omran, M. Topcu, A. Schlessinger, C. Indiveri, K. Duncan, A. Caglayan, M. Günel, J. Gleeson, G. Novarino, Cell 167 (2016) 1481–1494.
View | Files available | DOI
 
[12]
2015 | Journal Article | IST-REx-ID: 1789   OA
Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome
A. Kuechler, A. Zink, T. Wieland, H. Lüdecke, K. Cremer, L. Salviati, P. Magini, K. Najafi, C. Zweier, J. Czeschik, S. Aretz, S. Endele, F. Tamburrino, C. Pinato, M. Clementi, J. Gundlach, C. Maylahn, L. Mazzanti, E. Wohlleber, T. Schwarzmayr, R. Kariminejad, A. Schlessinger, D. Wieczorek, T. Strom, G. Novarino, H. Engels, European Journal of Human Genetics 23 (2015) 753–760.
View | DOI | Download (ext.) | PubMed | Europe PMC
 
[11]
2014 | Journal Article | IST-REx-ID: 1916   OA
Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders
G. Novarino, A. Fenstermaker, M. Zaki, M. Hofree, J. Silhavy, A. Heiberg, M. Abdellateef, B. Rosti, E. Scott, L. Mansour, A. Masri, H. Kayserili, J. Al Aama, G. Abdel Salam, A. Karminejad, M. Kara, B. Kara, B. Bozorgmehri, T. Ben Omran, F. Mojahedi, I. Mahmoud, N. Bouslam, A. Bouhouche, A. Benomar, S. Hanein, L. Raymond, S. Forlani, M. Mascaro, L. Selim, N. Shehata, N. Al Allawi, P. Bindu, M. Azam, M. Günel, A. Caglayan, K. Bilgüvar, A. Tolun, M. Issa, J. Schroth, E. Spencer, R. Rosti, N. Akizu, K. Vaux, A. Johansen, A. Koh, H. Megahed, A. Dürr, A. Brice, G. Stévanin, S. Gabriel, T. Ideker, J. Gleeson, Science 343 (2014) 506–511.
View | DOI | Download (ext.) | PubMed | Europe PMC
 
[10]
2014 | Journal Article | IST-REx-ID: 1791
Off-target effect of doublecortin family shRNA on neuronal migration associated with endogenous MicroRNA dysregulation
S. Baek, G. Kerjan, S. Bielas, J. Lee, A. Fenstermaker, G. Novarino, J. Gleeson, Neuron 82 (2014) 1255–1262.
View | DOI
 
[9]
2013 | Journal Article | IST-REx-ID: 1790
The sacred disease: The puzzling genetics of epileptic disorders
G. Novarino, S. Baek, J. Gleeson, Neuron 80 (2013) 9–11.
View | DOI
 
[8]
2012 | Journal Article | IST-REx-ID: 2313
Exome sequencing can improve diagnosis and alter patient management
T. Dixon Salazar, J. Silhavy, N. Udpa, J. Schroth, S. Bielas, A. Schaffer, J. Olvera, V. Bafna, M. Zaki, G. Abdel Salam, L. Mansour, L. Selim, S. Abdel Hadi, N. Marzouki, T. Ben Omran, N. Al Saana, F. Sönmez, F. Celep, M. Azam, K. Hill, A. Collazo, A. Fenstermaker, G. Novarino, N. Akizu, K. Garimella, C. Sougnez, C. Russ, S. Gabriel, J. Gleeson, Science Translational Medicine 4 (2012).
View | DOI
 
[7]
2012 | Journal Article | IST-REx-ID: 2314
Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy
G. Novarino, P. El Fishawy, H. Kayserili, N. Meguid, E. Scott, J. Schroth, J. Silhavy, M. Kara, R. Khalil, T. Ben Omran, A. Ercan Sencicek, A. Hashish, S. Sanders, A. Gupta, H. Hashem, D. Matern, S. Gabriel, L. Sweetman, Y. Rahimi, R. Harris, M. State, J. Gleeson, Science 338 (2012) 394–397.
View | DOI
 
[6]
2011 | Book Review | IST-REx-ID: 2312
Modeling human disease in humans: The ciliopathies
G. Novarino, N. Akizu, J. Gleeson, Cell 147 (2011) 70–79.
View | DOI
 
[5]
2010 | Book Chapter | IST-REx-ID: 2309
The CLC family of chloride channels and transporters
T. Stauber, G. Novarino, T. Jentsch, 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
Role of ClC-5 in renal endocytosis is unique among ClC exchangers and does not require PY-motif-dependent ubiquitylation
G. Rickheit, L. Wartosch, S. Schaffer, S. Stobrawa, G. Novarino, S. Weinert, T. Jentsch, Journal of Biological Chemistry 285 (2010) 17595–17603.
View | DOI
 
[3]
2010 | Journal Article | IST-REx-ID: 2310
Endosomal chloride-proton exchange rather than chloride conductance is crucial for renal endocytosis
G. Novarino, S. Weinert, G. Rickheit, T. Jentsch, Science 328 (2010) 1398–1401.
View | DOI
 
[2]
2005 | Journal Article | IST-REx-ID: 2307
Substrate binding stoichiometry and kinetics of the norepinephrine transporter
J. Schwartz, G. Novarino, D. Piston, L. Defelice, Journal of Biological Chemistry 280 (2005) 19177–19184.
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[1]
2004 | Journal Article | IST-REx-ID: 2308
Involvement of the intracellular ion channel CLIC1 in microglia-mediated β-amyloid-induced neurotoxicity
G. Novarino, C. Fabrizi, R. Tonini, M. Denti, A. Malchiodi, G. Lauro, B. Sacchetti, S. Paradisi, A. Ferroni, P. Curmi, S. Breit, M. Mazzanti, Journal of Neuroscience 24 (2004) 5322–5330.
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