Showing 1 - 14 results of 14 for search 'Maria Cristina D'Adamo', query time: 0.06s
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A Novel <i>KCNA2</i> Variant in a Patient with Non-Progressive Congenital Ataxia and Epilepsy: Functional Characterization and Sensitivity to 4-Aminopyridine by Paola Imbrici, Elena Conte, Rikard Blunck, Fabrizia Stregapede, Antonella Liantonio, Michele Tosi, Maria Cristina D’Adamo, Annamaria De Luca, Vesna Brankovic, Ginevra Zanni
Published 2021-09-01
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<i>Kcnj16</i> (Kir5.1) Gene Ablation Causes Subfertility and Increases the Prevalence of Morphologically Abnormal Spermatozoa by Giulia Poli, Sonia Hasan, Silvia Belia, Marta Cenciarini, Stephen J. Tucker, Paola Imbrici, Safa Shehab, Mauro Pessia, Stefano Brancorsini, Maria Cristina D'Adamo
Published 2021-06-01
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Locus Coeruleus Neurons’ Firing Pattern Is Regulated by ERG Voltage-Gated K<sup>+</sup> Channels by Sonia Hasan, Francis Delicata, Leonardo Guasti, Claudia Duranti, Fatemah Mousalem Haidar, Annarosa Arcangeli, Paola Imbrici, Mauro Pessia, Mario Valentino, Maria Cristina D’Adamo
Published 2022-12-01
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A channelopathy mutation in the voltage-sensor discloses contributions of a conserved phenylalanine to gating properties of Kv1.1 channels and ataxia by Sonia Hasan, Cecilia Bove, Gabriella Silvestri, Elide Mantuano, Anna Modoni, Liana Veneziano, Lara Macchioni, Therese Hunter, Gary Hunter, Mauro Pessia, Maria Cristina D’Adamo
Published 2017-07-01
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Association of A Novel Splice Site Mutation in P/Q-Type Calcium Channels with Childhood Epilepsy and Late-Onset Slowly Progressive Non-Episodic Cerebellar Ataxia by Claudia Stendel, Maria Cristina D’Adamo, Manuela Wiessner, Marina Dusl, Marta Cenciarini, Silvia Belia, Ehsan Nematian-Ardestani, Peter Bauer, Jan Senderek, Thomas Klopstock, Mauro Pessia
Published 2020-05-01
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<i>KCNK18</i> Biallelic Variants Associated with Intellectual Disability and Neurodevelopmental Disorders Alter TRESK Channel Activity by Lisa Pavinato, Ehsan Nematian-Ardestani, Andrea Zonta, Silvia De Rubeis, Joseph Buxbaum, Cecilia Mancini, Alessandro Bruselles, Marco Tartaglia, Mauro Pessia, Stephen J. Tucker, Maria Cristina D’Adamo, Alfredo Brusco
Published 2021-06-01
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Clinical and Functional Study of a De Novo Variant in the PVP Motif of Kv1.1 Channel Associated with Epilepsy, Developmental Delay and Ataxia by Giorgia Dinoi, Michael Morin, Elena Conte, Hagar Mor Shaked, Maria Antonietta Coppola, Maria Cristina D’Adamo, Orly Elpeleg, Antonella Liantonio, Inbar Hartmann, Annamaria De Luca, Rikard Blunck, Angelo Russo, Paola Imbrici
Published 2022-07-01
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A Calsequestrin-1 Mutation Associated with a Skeletal Muscle Disease Alters Sarcoplasmic Ca2+ Release. by Maria Cristina D'Adamo, Luigi Sforna, Sergio Visentin, Alessandro Grottesi, Llenio Servettini, Luca Guglielmi, Lara Macchioni, Simona Saredi, Maurizio Curcio, Chiara De Nuccio, Sonia Hasan, Lanfranco Corazzi, Fabio Franciolini, Marina Mora, Luigi Catacuzzeno, Mauro Pessia
Published 2016-01-01
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Musculoskeletal Features without Ataxia Associated with a Novel de novo Mutation in <i>KCNA1</i> Impairing the Voltage Sensitivity of Kv1.1 Channel by Paola Imbrici, Andrea Accogli, Rikard Blunck, Concetta Altamura, Michele Iacomino, Maria Cristina D’Adamo, Anna Allegri, Marina Pedemonte, Noemi Brolatti, Stella Vari, Matteo Cataldi, Valeria Capra, Stefano Gustincich, Federico Zara, Jean-Francois Desaphy, Chiara Fiorillo
Published 2021-01-01
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Novel phenotype associated with a mutation in the KCNA1(Kv1.1) gene by Maria Cristina D'Adamo, Maria Cristina D'Adamo, Constanze eGallenmueller, Constanze eGallenmueller, Constanze eGallenmueller, Ilenio eServettini, Elisabeth eHartl, Stephen eTucker, Larissa eArning, Saskia eBiskup, Alessandro eGrottesi, Luca eGuglielmi, Paola eImbrici, Pia eBernasconi, Giuseppe eDi Giovanni, Giuseppe eDi Giovanni, Fabio eFranciolini, Luigi eCatacuzzeno, Mauro ePessia, Mauro ePessia, Thomas eKlopstock, Thomas eKlopstock, Thomas eKlopstock, Thomas eKlopstock
Published 2015-01-01
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The CaMKII/MLC1 Axis Confers Ca<sup>2+</sup>-Dependence to Volume-Regulated Anion Channels (VRAC) in Astrocytes by Maria Stefania Brignone, Angela Lanciotti, Antonio Michelucci, Cinzia Mallozzi, Serena Camerini, Luigi Catacuzzeno, Luigi Sforna, Martino Caramia, Maria Cristina D’Adamo, Marina Ceccarini, Paola Molinari, Pompeo Macioce, Gianfranco Macchia, Tamara Corinna Petrucci, Mauro Pessia, Sergio Visentin, Elena Ambrosini
Published 2022-08-01
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