Αποτελέσματα αναζήτησης - Anna Fassio
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Endoplasmic Reticulum Oxidoreductin 1-Lβ (ERO1-Lβ), a Human Gene Induced in the Course of the Unfolded Protein Response από Massimiliano Pagani, Marco Fabbri, Cristina Benedetti, Anna Fassio, S. Pilati, Neil J. Bulleid, Andrea Cabibbo, Roberto Sitia
Έκδοση 2000Artigo -
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Novel Compound Heterozygous Mutations in<i>TBC</i><i>1</i><i>D</i><i>24</i>Cause Familial Malignant Migrating Partial Seizures of Infancy από Mathieu Milh, Antonio Falace, Nathalie Villeneuve, Nicola Vanni, Pierre Cacciagli, Stefania Assereto, Rima Nabbout, Fabio Benfenati, Federico Zara, B. Chabrol, Laurent Villard, Anna Fassio
Έκδοση 2013Artigo -
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TBC1D24 regulates neuronal migration and maturation through modulation of the ARF6-dependent pathway από Antonio Falace, Emmanuelle Buhler, Manuela Fadda, Françoise Watrin, Pellegrino Lippiello, Emilie Pallesi‐Pocachard, Pietro Baldelli, Fabio Benfenati, Federico Zara, Alfonso Represa, Anna Fassio, Carlos Cardoso
Έκδοση 2014Artigo -
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Phosphorylation of Synapsin I by Cyclin-Dependent Kinase-5 Sets the Ratio between the Resting and Recycling Pools of Synaptic Vesicles at Hippocampal Synapses από Anne M.J. Verstegen, Erica Tagliatti, Gabriele Lignani, Antonella Marte, Tamar Stolero, Merav Atias, Anna Corradi, Flavia Valtorta, Daniel Gitler, Franco Onofri, Anna Fassio, Fabio Benfenati
Έκδοση 2014Artigo -
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REST/NRSF-mediated intrinsic homeostasis protects neuronal networks from hyperexcitability από Davide Pozzi, Gabriele Lignani, Enrico Ferrea, Andrea Contestabile, Francesco Paonessa, Rosalba D’Alessandro, Pellegrino Lippiello, Davide Boido, Anna Fassio, Jacopo Meldolesi, Flavia Valtorta, Fabio Benfenati, Pietro Baldelli
Έκδοση 2013Artigo -
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TBC1D24, an ARF6-Interacting Protein, Is Mutated in Familial Infantile Myoclonic Epilepsy από Antonio Falace, Fabia Filipello, Veronica La Padula, Nicola Vanni, Francesca Madia, Davide De Pietri Tonelli, De Falco Fa, Pasquale Striano, F. Dagna Bricarelli, Carlo Minetti, Fabio Benfenati, Anna Fassio, Federico Zara
Έκδοση 2010Artigo -
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SYN2 is an autism predisposing gene: loss-of-function mutations alter synaptic vesicle cycling and axon outgrowth από Anna Corradi, Manuela Fadda, Amélie Piton, Lysanne Patry, Antonella Marte, Pia Rossi, Maxime Cadieux‐Dion, Julie Gauthier, Line Lapointe, Laurent Mottron, Flavia Valtorta, Guy A. Rouleau, Anna Fassio, Fabio Benfenati, Patrick Cossette
Έκδοση 2013Artigo -
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Optimization of Transcription Factor-Driven Neuronal Differentiation from Human Induced Pluripotent Stem Cells for Disease Modelling and Drug Screening από Martina Servetti, Martino Caramia, Giulia Parodi, Fabrizio Loiacono, Ennio Nano, Giorgia Biddau, Lorenzo Ferrando, Lisastella Morinelli, Pierluigi Valente, Sérgio Martinoia, Andrea Escelsior, Gianluca Serafini, Serena Tamburro, Sımona Baldassari, Anna Fassio, Fabio Benfenati, Anna Corradi, Bruno Sterlini
Έκδοση 2025Artigo -
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The epilepsy-associated protein TBC1D24 is required for normal development, survival and vesicle trafficking in mammalian neurons από Mattéa J. Finelli, Davide Aprile, Enrico Castroflorio, Alexander Jeans, Matteo Moschetta, Lauren Chessum, Matteo T. Degiacomi, Julia Grasegger, Alexis Lupien‐Meilleur, Andrew Bassett, Elsa Rossignol, Philippe M. Campeau, Michael R. Bowl, Fabio Benfenati, Anna Fassio, Peter L. Oliver
Έκδοση 2018Artigo -
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PRRT2 controls neuronal excitability by negatively modulating Na+ channel 1.2/1.6 activity από Floriana Fruscione, Pierluigi Valente, Bruno Sterlini, Alessandra Romei, Sımona Baldassari, Manuela Fadda, Cosimo Prestigio, Giorgia Giansante, Jacopo Sartorelli, Pia Rossi, Alicia Rubio, Antonio Gambardella, Thierry Nieus, Vania Broccoli, Anna Fassio, Pietro Baldelli, Anna Corradi, Federico Zara, Fabio Benfenati
Έκδοση 2018Artigo -
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PRRT2 Is a Key Component of the Ca 2+ -Dependent Neurotransmitter Release Machinery από Pierluigi Valente, Enrico Castroflorio, Pia Rossi, Manuela Fadda, Bruno Sterlini, Romina Inès Cervigni, Cosimo Prestigio, Silvia Giovedı̀, Franco Onofri, Elisa Mura, Fabrizia Claudia Guarnieri, Antonella Marte, Marta Orlando, Federico Zara, Anna Fassio, Flavia Valtorta, Pietro Baldelli, Anna Corradi, Fabio Benfenati
Έκδοση 2016Artigo -
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SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function από Anna Fassio, Lysanne Patry, Sonia Congia, Franco Onofri, Amélie Piton, Julie Gauthier, Davide Pozzi, Mirko Messa, Enrico Defranchi, Manuela Fadda, Anna Corradi, Pietro Baldelli, Line Lapointe, Judith St‐Onge, Caroline Meloche, Laurent Mottron, Flavia Valtorta, Dang Khoa Nguyen, Guy A. Rouleau, Fabio Benfenati, Patrick Cossette
Έκδοση 2011Artigo -
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De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy από Anna Fassio, Alessandro Esposito, Mitsuhiro Kato, Hirotomo Saitsu, Davide Mei, Carla Marini, Valerio Conti, Mitsuko Nakashima, Nobuhiko Okamoto, Akgun Olmez Turker, Burcu Albuz, Cavidan Nur Semerci Gündüz, Keiko Yanagihara, Elisa L. Belmonte, Luca Maragliano, Keri Ramsey, Chris Balak, Ashley L. Siniard, Vinodh Narayanan, Chihiro Ohba, Masaaki Shiina, Kazuhiro Ogata, Naomichi Matsumoto, Fabio Benfenati, Renzo Guerrini
Έκδοση 2018Artigo
Εργαλεία αναζήτησης:
Σχετικά θέματα
Biology
Neuroscience
Genetics
Gene
Medicine
Cell biology
Membrane
Phenotype
Synaptic vesicle
Vesicle
Biochemistry
Chemistry
Epilepsy
Receptor
Mutation
Neurotransmission
Psychiatry
Psychology
Synapsin
Internal medicine
Autism
Disease
Encephalopathy
Endoplasmic reticulum
Haploinsufficiency
Hippocampal formation
Missense mutation
Nonsense mutation
Synaptic plasticity
Bioinformatics