Hasil Pencarian - Maria Cristina D'Adamo
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Commentary: A channelopathy mutation in the voltage-sensor discloses contributions of a conserved phenylalanine to gating properties of Kv1.1 channels and ataxia oleh Sonia Hasan, Therese Hunter, Gary Hunter, Mauro Pessia, Mauro Pessia, Maria Cristina D'Adamo
Diterbitkan 2018-06-01
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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 oleh Paola Imbrici, Elena Conte, Rikard Blunck, Fabrizia Stregapede, Antonella Liantonio, Michele Tosi, Maria Cristina D’Adamo, Annamaria De Luca, Vesna Brankovic, Ginevra Zanni
Diterbitkan 2021-09-01
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<i>Kcnj16</i> (Kir5.1) Gene Ablation Causes Subfertility and Increases the Prevalence of Morphologically Abnormal Spermatozoa oleh Giulia Poli, Sonia Hasan, Silvia Belia, Marta Cenciarini, Stephen J. Tucker, Paola Imbrici, Safa Shehab, Mauro Pessia, Stefano Brancorsini, Maria Cristina D'Adamo
Diterbitkan 2021-06-01
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Locus Coeruleus Neurons’ Firing Pattern Is Regulated by ERG Voltage-Gated K<sup>+</sup> Channels oleh Sonia Hasan, Francis Delicata, Leonardo Guasti, Claudia Duranti, Fatemah Mousalem Haidar, Annarosa Arcangeli, Paola Imbrici, Mauro Pessia, Mario Valentino, Maria Cristina D’Adamo
Diterbitkan 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 oleh Sonia Hasan, Cecilia Bove, Gabriella Silvestri, Elide Mantuano, Anna Modoni, Liana Veneziano, Lara Macchioni, Therese Hunter, Gary Hunter, Mauro Pessia, Maria Cristina D’Adamo
Diterbitkan 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 oleh 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
Diterbitkan 2020-05-01
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Reconciling the discrepancies on the involvement of large-conductance Ca2+-activated K+ channels in glioblastoma cell migration oleh Luigi eCatacuzzeno, Martino eCaramia, Luigi eSforna, Silvia eBelia, Luca eGuglielmi, Maria Cristina D'Adamo, Mauro ePessia, Fabio eFranciolini
Diterbitkan 2015-04-01
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Autism with Seizures and Intellectual Disability: Possible Causative Role of Gain-of-function of the Inwardly-Rectifying K+ Channel Kir4.1 oleh Federico Sicca, Paola Imbrici, Maria Cristina D'Adamo, Francesca Moro, Fabrizia Bonatti, Paola Brovedani, Alessandro Grottesi, Renzo Guerrini, Gabriele Masi, Filippo Maria Santorelli, Mauro Pessia
Diterbitkan 2011-07-01
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<i>KCNK18</i> Biallelic Variants Associated with Intellectual Disability and Neurodevelopmental Disorders Alter TRESK Channel Activity oleh 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
Diterbitkan 2021-06-01
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Kv1.1 knock-in ataxic mice exhibit spontaneous myokymic activity exacerbated by fatigue, ischemia and low temperature oleh Orazio Brunetti, Paola Imbrici, Fabio Massimo Botti, Vito Enrico Pettorossi, Maria Cristina D'Adamo, Mario Valentino, Christian Zammit, Marina Mora, Sara Gibertini, Giuseppe Di Giovanni, Richard Muscat, Mauro Pessia
Diterbitkan 2012-09-01
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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 oleh 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
Diterbitkan 2022-07-01
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A Calsequestrin-1 Mutation Associated with a Skeletal Muscle Disease Alters Sarcoplasmic Ca2+ Release. oleh 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
Diterbitkan 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 oleh 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
Diterbitkan 2021-01-01
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Novel phenotype associated with a mutation in the KCNA1(Kv1.1) gene oleh 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
Diterbitkan 2015-01-01
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