Хайлтын үр дүнгүүд - Francesco Miceli
- 16-н 1 - 16 үр дүнгүүдийг харуулж байна
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Early-Onset Epileptic Encephalopathy Caused by Gain-of-Function Mutations in the Voltage Sensor of K<sub>v</sub>7.2 and K<sub>v</sub>7.3 Potassium Channel Subunits -н Francesco Miceli, Maria Virginia Soldovieri, Paolo Ambrosino, Michela De Maria, Michele Migliore, Rosanna Migliore, Maurizio Taglialatela
Хэвлэсэн 2015Artigo -
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Genotype–phenotype correlations in neonatal epilepsies caused by mutations in the voltage sensor of K <sub>v</sub> 7.2 potassium channel subunits -н Francesco Miceli, Maria Virginia Soldovieri, Paolo Ambrosino, Vincenzo Barrese, Michele Migliore, Maria Roberta Cilio, Maurizio Taglialatela
Хэвлэсэн 2013Artigo -
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I <sub>Ks</sub> channels open slowly because KCNE1 accessory subunits slow the movement of S4 voltage sensors in KCNQ1 pore-forming subunits -н Katarina J. Ruscic, Francesco Miceli, Carlos A. Villalba‐Galea, Hui Dai, Yukiko Mishina, Francisco Bezanilla, Steven A. Goldstein
Хэвлэсэн 2013Artigo -
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A novel <i>KCNQ3</i> mutation in familial epilepsy with focal seizures and intellectual disability -н Francesco Miceli, Pasquale Striano, Maria Virginia Soldovieri, Antonina Fontana, Rosaria Nardello, Angela Robbiano, Giulia Bellini, Maurizio Elia, Federico Zara, Maurizio Taglialatela, Salvatore Mangano
Хэвлэсэн 2014Artigo -
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Early-onset epileptic encephalopathy caused by a reduced sensitivity of Kv7.2 potassium channels to phosphatidylinositol 4,5-bisphosphate -н Maria Virginia Soldovieri, Paolo Ambrosino, Ilaria Mosca, Michela De Maria, Edoardo Moretto, Francesco Miceli, Alessandro Alaimo, Nunzio Iraci, Laura Manocchio, Alessandro Medoro, Maria Passafaro, Maurizio Taglialatela
Хэвлэсэн 2016Artigo -
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Infantile spasms and encephalopathy without preceding neonatal seizures caused by <i>KCNQ2</i> R198Q, a gain‐of‐function variant -н J Gordon Millichap, Francesco Miceli, Michela De Maria, Cynthia Keator, Nishtha Joshi, Baouyen Tran, Maria Virginia Soldovieri, Paolo Ambrosino, Vandana Shashi, Mohamad A. Mikati, Edward C. Cooper, Maurizio Taglialatela
Хэвлэсэн 2016Artigo -
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Gain of function due to increased opening probability by two <i>KCNQ5</i> pore variants causing developmental and epileptic encephalopathy -н Mario Nappi, Vincenzo Barrese, Lidia Carotenuto, Gaëtan Lesca, Audrey Labalme, Dorothée Ville, Thomas Smol, Mélanie Rama, Anne Dieux‐Coëslier, Clotilde Rivier-Ringenbach, Maria Virginia Soldovieri, Paolo Ambrosino, Ilaria Mosca, Michael Pusch, Francesco Miceli, Maurizio Taglialatela
Хэвлэсэн 2022Artigo -
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Expression and function of Kv7.4 channels in rat cardiac mitochondria: possible targets for cardioprotection -н Lara Testai, Vincenzo Barrese, Maria Virginia Soldovieri, Paolo Ambrosino, Alma Martelli, Iolanda Vinciguerra, Francesco Miceli, Iain A. Greenwood, Michael J. Curtis, Maria Cristina Breschi, Maria Josè Sisalli, Antonella Scorziello, Miren Josune Canduela, Pedro Grandes, Vincenzo Calderone, Maurizio Taglialatela
Хэвлэсэн 2015Artigo -
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Early Treatment with Quinidine in 2 Patients with Epilepsy of Infancy with Migrating Focal Seizures (EIMFS) Due to Gain-of-Function KCNT1 Mutations: Functional Studies, Clinical Re... -н Robertino Dilena, Jacopo C. DiFrancesco, Maria Virginia Soldovieri, Antonella Giacobbe, Paolo Ambrosino, Ilaria Mosca, María Albina Galli, Sophie Guez, Monica Fumagalli, Francesco Miceli, Dario Cattaneo, Francesca Darra, Elena Di Gennaro, Federico Zara, Pasquale Striano, Barbara Castellotti, Cinzia Gellera, Costanza Varesio, Pierangelo Veggiotti, Maurizio Taglialatela
Хэвлэсэн 2018Artigo -
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<i>In Silico</i> Assisted Identification, Synthesis, and <i>In Vitro</i> Pharmacological Characterization of Potent and Selective Blockers of the Epilepsy-Associated KCNT1 Channel -н Nunzio Iraci, Lidia Carotenuto, Tania Ciaglia, Giorgio Belperio, Francesca Di Matteo, Ilaria Mosca, Giusy Carleo, Manuela Giovanna Basilicata, Paolo Ambrosino, Rita Turcio, Deborah Puzo, Giacomo Pepe, Isabel Gómez‐Monterrey, Maria Virginia Soldovieri, Veronica Di Sarno, Pietro Campiglia, Francesco Miceli, Alessia Bertamino, Carmine Ostacolo, Maurizio Taglialatela
Хэвлэсэн 2024Artigo -
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Novel<i>KCNQ2</i>and<i>KCNQ3</i>Mutations in a Large Cohort of Families with Benign Neonatal Epilepsy: First Evidence for an Altered Channel Regulation by Syntaxin-1A -н Maria Virginia Soldovieri, Nadia Boutry‐Kryza, Mathieu Milh, Diane Doummar, Bénédicte Héron, Emilie Bourel‐Ponchel, Paolo Ambrosino, Francesco Miceli, Michela De Maria, Nathalie Dorison, Stéphane Auvin, Bernard Échenne, Julie Oertel, Audrey Riquet, Laëtitia Lambert, Marion Gérard, Anne Roubergue, Alain Calender, Cyril Mignot, Maurizio Taglialatela, Gaëtan Lesca
Хэвлэсэн 2013Artigo -
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Cytokine storm in aged people with CoV-2: possible role of vitamins as therapy or preventive strategy -н Sirio Fiorino, Claudio Gallo, Maddalena Zippi, Sergio Sabbatani, Roberto Manfredi, R. Moretti, Elisa Fogacci, Caterina Maggioli, Francesca Travasoni Loffredo, Enrico Giampieri, Ivan Corazza, Christoph Dickmans, Claudio Denitto, Michele Cammarosano, Michele Battilana, Paolo Emilio Orlandi, Francesco Del Forno, Francesco Miceli, Michela Visani, Giorgia Acquaviva, Antonio De Leo, Paolo Leandri, Wandong Hong, Thomas Brand, Giovanni Tallini, Elio Jovine, Roberto Jovine, Dario de Biase
Хэвлэсэн 2020Revisão -
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KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism -н Francesco Miceli, Charissa Millevert, Maria Virginia Soldovieri, Ilaria Mosca, Paolo Ambrosino, Lidia Carotenuto, Dewi Schrader, Hyun Kyung Lee, James J. Riviello, William Hong, Sarah Risen, Lisa Emrick, Hitha Amin, Dorothée Ville, Patrick Edery, Julitta de Bellescize, Vincent Michaud, Julien Van‐Gils, Cyril Goizet, Marjolein H. Willemsen, Tjitske Kleefstra, Rikke S. Møller, Allan Bayat, Orrin Devinsky, Tristan T. Sands, Georg Christoph Korenke, Gerhard Kluger, Heather C. Mefford, Eva H. Brilstra, Gaëtan Lesca, Mathieu Milh, Edward C. Cooper, Maurizio Taglialatela, Sarah Weckhuysen
Хэвлэсэн 2022Artigo -
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Autism and developmental disability caused by <i>KCNQ3</i> gain‐of‐function variants -н Tristan T. Sands, Francesco Miceli, Gaëtan Lesca, Anita Beck, Lynette G. Sadleir, Daniel K. Arrington, Bitten Schönewolf‐Greulich, Sébastien Moutton, Anna Lauritano, Piera Nappi, Maria Virginia Soldovieri, Ingrid E. Scheffer, Heather C. Mefford, Nicholas Stong, Erin L. Heinzen, David B. Goldstein, Ana Grijalvo Perez, Eric H. Kossoff, Amber Stocco, Jennifer A. Sullivan, Vandana Shashi, Bénédicte Gérard, Christine Francannet, Anne‐Marie Bisgaard, Zeynep Tümer, Marjolaine Willems, François Rivier, Antonio Vitobello, Kavita Thakkar, Deepa Rajan, A. James Barkovich, Sarah Weckhuysen, Edward C. Cooper, Maurizio Taglialatela, Maria Roberta Cilio
Хэвлэсэн 2019Artigo
Хайх хэрэгслүүд:
Холбогдох сэдвүүд
Biology
Neuroscience
Epilepsy
Gene
Medicine
Genetics
Mutation
Chemistry
Biophysics
Internal medicine
Cell biology
Potassium channel
Protein subunit
Electrophysiology
Gain of function
Homomeric
Mutant
Phenotype
Psychiatry
Psychology
Autism
Biochemistry
Bioinformatics
Developmental psychology
Hippocampal formation
Pediatrics
Pharmacology
Signal transduction
Acoustics
Alkaline phosphatase