Search Results - Gaia Novarino

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  1. 1
    Involvement of the Intracellular Ion Channel CLIC1 in Microglia-Mediated -Amyloid-Induced Neurotoxicity

    Involvement of the Intracellular Ion Channel CLIC1 in Microglia-Mediated -Amyloid-Induced Neurotoxicity by Gaia Novarino

    Published 2004
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  2. 2
    Genomics in neurodevelopmental disorders: an avenue to personalized medicine

    Genomics in neurodevelopmental disorders: an avenue to personalized medicine by Dora C. Tărlungeanu, Gaia Novarino

    Published 2018
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  3. 3
    Modeling Human Disease in Humans: The Ciliopathies

    Modeling Human Disease in Humans: The Ciliopathies by Gaia Novarino, Naiara Akizu, Joseph G. Gleeson

    Published 2011
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  4. 4
    Endosomal Chloride-Proton Exchange Rather Than Chloride Conductance Is Crucial for Renal Endocytosis

    Endosomal Chloride-Proton Exchange Rather Than Chloride Conductance Is Crucial for Renal Endocytosis by Gaia Novarino, Stefanie Weinert, Gesa Rickheit, Thomas J. Jentsch

    Published 2010
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  5. 5
    Neurodevelopmental Disorders: From Genetics to Functional Pathways

    Neurodevelopmental Disorders: From Genetics to Functional Pathways by Ilaria Parenti, Luis G. Rabaneda, Hanna Schoen, Gaia Novarino

    Published 2020
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  6. 6
    Off-Target Effect of doublecortin Family shRNA on Neuronal Migration Associated with Endogenous MicroRNA Dysregulation

    Off-Target Effect of doublecortin Family shRNA on Neuronal Migration Associated with Endogenous MicroRNA Dysregulation by Seung Tae Baek, Géraldine Kerjan, Stephanie Bielas, Ji Eun Lee, Ali G. Fenstermaker, Gaia Novarino, Joseph G. Gleeson

    Published 2014
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  7. 7
    Uncoupling endosomal <scp>CLC</scp> chloride/proton exchange causes severe neurodegeneration

    Uncoupling endosomal <scp>CLC</scp> chloride/proton exchange causes severe neurodegeneration by Stefanie Weinert, Niclas Gimber, Dorothea Anni Deuschel, Till Stuhlmann, Dmytro Puchkov, Zohreh Farsi, Carmen Ludwig, Gaia Novarino, Karen I. López‐Cayuqueo, Rosa Planells‐Cases, Thomas J. Jentsch

    Published 2020
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  8. 8
    Light-microscopy based dense connectomic reconstruction of mammalian brain tissue

    Light-microscopy based dense connectomic reconstruction of mammalian brain tissue by Mojtaba R. Tavakoli, Julia Lyudchik, Michał Januszewski, Vitali Vistunou, Nathalie Agudelo Dueñas, Jakob Vorlaufer, Christoph Sommer, Caroline Kreuzinger, Bárbara Oliveira, Alban Cenameri, Gaia Novarino, Viren Jain, Johann G. Danzl

    Published 2024
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  9. 9
    Light-microscopy-based connectomic reconstruction of mammalian brain tissue

    Light-microscopy-based connectomic reconstruction of mammalian brain tissue by Mojtaba R. Tavakoli, Julia Lyudchik, Michał Januszewski, Vitali Vistunou, Nathalie Agudelo Dueñas, Jakob Vorlaufer, Christoph Sommer, Caroline Kreuzinger, Bárbara Oliveira, Alban Cenameri, Gaia Novarino, Viren Jain, Johann G. Danzl

    Published 2025
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  10. 10
    Cul3 regulates cytoskeleton protein homeostasis and cell migration during a critical window of brain development

    Cul3 regulates cytoskeleton protein homeostasis and cell migration during a critical window of brain development by Jasmin Morandell, Lena A. Schwarz, Bernadette Basilico, Saren Tasciyan, Georgi Dimchev, Armel Nicolas, Christoph Sommer, Caroline Kreuzinger, Christoph Dotter, Lisa S. Knaus, Zoe Dobler, Emanuele Cacci, F.K.M. Schur, Johann G. Danzl, Gaia Novarino

    Published 2021
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  11. 11
    Imaging brain tissue architecture across millimeter to nanometer scales

    Imaging brain tissue architecture across millimeter to nanometer scales by Julia M. Michalska, Julia Lyudchik, Philipp Velicky, Hana Štefaničková, Jake F. Watson, Alban Cenameri, Christoph Sommer, Nicole Amberg, Alessandro Venturino, Karl Roessler, Thomas Czech, Romana Höftberger, Sandra Siegert, Gaia Novarino, Péter Jónás, Johann G. Danzl

    Published 2023
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  12. 12
    A homozygous founder mutation in<i>TRAPPC6B</i>associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features

    A homozygous founder mutation in<i>TRAPPC6B</i>associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features by Isaac Marin‐Valencia, Gaia Novarino, Anide Johansen, Başak Rosti, Mahmoud Y. Issa, Damir Musaev, Gifty Bhat, Eric Scott, Jennifer L. Silhavy, Valentina Stanley, Rasim Özgür Rosti, Jeremy W Gleeson, Farhad Imam, Maha S. Zaki, Joseph G. Gleeson

    Published 2017
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  13. 13
    Large neutral amino acid levels tune perinatal neuronal excitability and survival

    Large neutral amino acid levels tune perinatal neuronal excitability and survival by Lisa S. Knaus, Bernadette Basilico, Daniel Malzl, Maria Gerykova Bujalkova, Mateja Smogavec, Lena A. Schwarz, Sarah Gorkiewicz, Nicole Amberg, Florian M. Pauler, Christian Knittl‐Frank, Marianna Tassinari, Nuno Maulide, Thomas Rülicke, Jörg Menche, Simon Hippenmeyer, Gaia Novarino

    Published 2023
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  14. 14
    CHD8 haploinsufficiency links autism to transient alterations in excitatory and inhibitory trajectories

    CHD8 haploinsufficiency links autism to transient alterations in excitatory and inhibitory trajectories by Carlo Emanuele Villa, Cristina Cheroni, Christoph Dotter, Alejandro Tobon, Bárbara Oliveira, Roberto Sacco, Aysan Çerağ Yahya, Jasmin Morandell, Michele Gabriele, Mojtaba R. Tavakoli, Julia Lyudchik, Christoph Sommer, Mariano I. Gabitto, Johann G. Danzl, Giuseppe Testa, Gaia Novarino

    Published 2022
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  15. 15
    Dense 4D nanoscale reconstruction of living brain tissue

    Dense 4D nanoscale reconstruction of living brain tissue by Philipp Velicky, Eder Miguel, Julia M. Michalska, Julia Lyudchik, Donglai Wei, Zudi Lin, Jake F. Watson, Jakob Troidl, Johanna Beyer, Yoav Ben‐Simon, Christoph Sommer, Wiebke Jahr, Alban Cenameri, Johannes Broichhagen, Seth G. N. Grant, Péter Jónás, Gaia Novarino, Hanspeter Pfister, Bernd Bickel, Johann G. Danzl

    Published 2023
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  16. 16
    Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome

    Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome by Alma Kuechler, Alexander M. Zink, Thomas Wieland, H.-J. Lüdecke, Kirsten Cremer, Leonardo Salviati, Pamela Magini, Kimia Najafi, Christiane Zweier, Johanna Christina Czeschik, Stefan Aretz, Sabine Endele, Federica Tamburrino, Claudia Pinato, Maurizio Clementi, Jasmin Gundlach, Carina Maylahn, Laura Mazzanti, Eva Wohlleber, Thomas Schwarzmayr, Roxana Kariminejad, Avner Schlessinger, Dagmar Wieczorek, Tim M. Strom, Gaia Novarino, Hartmut Engels

    Published 2014
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  17. 17
    Mutations in <i>BCKD-kinase</i> Lead to a Potentially Treatable Form of Autism with Epilepsy

    Mutations in <i>BCKD-kinase</i> Lead to a Potentially Treatable Form of Autism with Epilepsy by Gaia Novarino, Paul El-Fishawy, Hülya Kayserili, Nagwa A. Meguid, Eric Scott, Jana Schroth, Jennifer L. Silhavy, Majdi Kara, Rehab O. Khalil, Tawfeg Ben‐Omran, A. Gulhan Ercan‐Sencicek, Adel F. Hashish, Stephan Sanders, Abha R. Gupta, Hebatalla S. Hashem, Dietrich Matern, Stacey Gabriel, Larry Sweetman, Yasmeen Rahimi, Robert A. Harris, Matthew W. State, Joseph G. Gleeson

    Published 2012
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  18. 18
    Impaired Amino Acid Transport at the Blood Brain Barrier Is a Cause of Autism Spectrum Disorder

    Impaired Amino Acid Transport at the Blood Brain Barrier Is a Cause of Autism Spectrum Disorder by Dora C. Tărlungeanu, Elena Deliu, Christoph Dotter, Majdi Kara, Philipp Christoph Janiesch, Mariafrancesca Scalise, Michele Galluccio, Mateja Rybiczka-Tešulov, Emanuela Morelli, Fatma Müjgan Sönmez, Kaya Bilgüvar, Ryuichi Ohgaki, Yoshikatsu Kanai, Anide Johansen, Seham Esharif, Tawfeg Ben‐Omran, Meral Topçu, Avner Schlessinger, Cesare Indiveri, Kent E. Duncan, Ahmet Okay Çağlayan, Murat Günel, Joseph G. Gleeson, Gaia Novarino

    Published 2016
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  19. 19
    A framework for neural organoids, assembloids and transplantation studies

    A framework for neural organoids, assembloids and transplantation studies by Sergiu P. Pașca, Paola Arlotta, Helen S. Bateup, J. Gray Camp, Silvia Cappello, Fred H. Gage, Juergen A. Knoblich, Arnold R. Kriegstein, Madeline A. Lancaster, Guo‐li Ming, Gaia Novarino, Hideyuki Okano, Malin Parmar, In‐Hyun Park, Orly Reiner, Hongjun Song, Lorenz Studer, Jun Takahashi, Sally Temple, Giuseppe Testa, Barbara Treutlein, Flora M. Vaccarino, Pierre Vanderhaeghen, Tracy L. Young‐Pearse

    Published 2024
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  20. 20
    Exome Sequencing Can Improve Diagnosis and Alter Patient Management

    Exome Sequencing Can Improve Diagnosis and Alter Patient Management by Tracy Dixon‐Salazar, Jennifer L. Silhavy, Nitin Udpa, Jana Schroth, Stephanie Bielas, Ashleigh E. Schaffer, Jesus Olvera, Vineet Bafna, Maha S. Zaki, Ghada M. H. Abdel‐Salam, Lobna Mansour, Laila Selim, Sawsan Abdel-Hadi, Naïma Marzouki, Tawfeg Ben‐Omran, Nouriya A. Al-Saana, F.M. Sonmez, Figen Celep, Matloob Azam, Kiley J. Hill, Adrienne Collazo, Ali G. Fenstermaker, Gaia Novarino, Naiara Akizu, Kiran Garimella, Carrie Sougnez, Carsten Russ, Stacey Gabriel, Joseph G. Gleeson

    Published 2012
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