検索結果 - 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 著者: Gaia Novarino

    出版事項 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 著者: Dora C. Tărlungeanu, Gaia Novarino

    出版事項 2018
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  3. 3
    Modeling Human Disease in Humans: The Ciliopathies

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

    出版事項 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 著者: Gaia Novarino, Stefanie Weinert, Gesa Rickheit, Thomas J. Jentsch

    出版事項 2010
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  5. 5
    Neurodevelopmental Disorders: From Genetics to Functional Pathways

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

    出版事項 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 著者: Seung Tae Baek, Géraldine Kerjan, Stephanie Bielas, Ji Eun Lee, Ali G. Fenstermaker, Gaia Novarino, Joseph G. Gleeson

    出版事項 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 著者: 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

    出版事項 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 著者: 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

    出版事項 2024
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    Pré-impressão
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  9. 9
    Light-microscopy-based connectomic reconstruction of mammalian brain tissue

    Light-microscopy-based connectomic reconstruction of mammalian brain tissue 著者: 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

    出版事項 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 著者: 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

    出版事項 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 著者: 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

    出版事項 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 著者: 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

    出版事項 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 著者: 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

    出版事項 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 著者: 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

    出版事項 2022
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  15. 15
    Dense 4D nanoscale reconstruction of living brain tissue

    Dense 4D nanoscale reconstruction of living brain tissue 著者: 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

    出版事項 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 著者: 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

    出版事項 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 著者: 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

    出版事項 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 著者: 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

    出版事項 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 著者: 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

    出版事項 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 著者: 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

    出版事項 2012
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