Commentary: A channelopathy mutation in the voltage-sensor discloses contributions of a conserved phenylalanine to gating properties of Kv1.1 channels and ataxia

por Hasan, Sonia, Hunter, Therese, Hunter, Gary, Pessia, Mauro, D'Adamo, Maria Cristina
Publicado 2018

K(+) channelepsy: progress in the neurobiology of potassium channels and epilepsy

por D'Adamo, Maria Cristina, Catacuzzeno, Luigi, Di Giovanni, Giuseppe, Franciolini, Fabio, Pessia, Mauro
Publicado 2013

Kv1.1 Channelopathies: Pathophysiological Mechanisms and Therapeutic Approaches

por D’Adamo, Maria Cristina, Liantonio, Antonella, Rolland, Jean-Francois, Pessia, Mauro, Imbrici, Paola
Publicado 2020

The role of ion channels in the hypoxia-induced aggressiveness of glioblastoma

por Sforna, Luigi, Cenciarini, Marta, Belia, Silvia, D’Adamo, Maria Cristina, Pessia, Mauro, Franciolini, Fabio, Catacuzzeno, Luigi
Publicado 2015

Update on the implication of potassium channels in autism: K(+) channelautism spectrum disorder

por Guglielmi, Luca, Servettini, Ilenio, Caramia, Martino, Catacuzzeno, Luigi, Franciolini, Fabio, D’Adamo, Maria Cristina, Pessia, Mauro
Publicado 2015

New insights into the pathogenesis and therapeutics of episodic ataxia type 1

por D’Adamo, Maria Cristina, Hasan, Sonia, Guglielmi, Luca, Servettini, Ilenio, Cenciarini, Marta, Catacuzzeno, Luigi, Franciolini, Fabio
Publicado 2015

Reconciling the discrepancies on the involvement of large-conductance Ca(2+)-activated K channels in glioblastoma cell migration

por Catacuzzeno, Luigi, Caramia, Martino, Sforna, Luigi, Belia, Silvia, Guglielmi, Luca, D’Adamo, Maria Cristina, Pessia, Mauro, Franciolini, Fabio
Publicado 2015

Dexamethasone in Glioblastoma Multiforme Therapy: Mechanisms and Controversies

por Cenciarini, Marta, Valentino, Mario, Belia, Silvia, Sforna, Luigi, Rosa, Paolo, Ronchetti, Simona, D’Adamo, Maria Cristina, Pessia, Mauro
Publicado 2019

Kcnj16 (Kir5.1) Gene Ablation Causes Subfertility and Increases the Prevalence of Morphologically Abnormal Spermatozoa

por Poli, Giulia, Hasan, Sonia, Belia, Silvia, Cenciarini, Marta, Tucker, Stephen J., Imbrici, Paola, Shehab, Safa, Pessia, Mauro, Brancorsini, Stefano, D’Adamo, Maria Cristina
Publicado 2021

A Novel KCNA2 Variant in a Patient with Non-Progressive Congenital Ataxia and Epilepsy: Functional Characterization and Sensitivity to 4-Aminopyridine

por Imbrici, Paola, Conte, Elena, Blunck, Rikard, Stregapede, Fabrizia, Liantonio, Antonella, Tosi, Michele, D’Adamo, Maria Cristina, De Luca, Annamaria, Brankovic, Vesna, Zanni, Ginevra
Publicado 2021

Locus Coeruleus Neurons’ Firing Pattern Is Regulated by ERG Voltage-Gated K(+) Channels

por Hasan, Sonia, Delicata, Francis, Guasti, Leonardo, Duranti, Claudia, Haidar, Fatemah Mousalem, Arcangeli, Annarosa, Imbrici, Paola, Pessia, Mauro, Valentino, Mario, D’Adamo, Maria Cristina
Publicado 2022

A channelopathy mutation in the voltage-sensor discloses contributions of a conserved phenylalanine to gating properties of Kv1.1 channels and ataxia

por Hasan, Sonia, Bove, Cecilia, Silvestri, Gabriella, Mantuano, Elide, Modoni, Anna, Veneziano, Liana, Macchioni, Lara, Hunter, Therese, Hunter, Gary, Pessia, Mauro, D’Adamo, Maria Cristina
Publicado 2017

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

por Stendel, Claudia, D’Adamo, Maria Cristina, Wiessner, Manuela, Dusl, Marina, Cenciarini, Marta, Belia, Silvia, Nematian-Ardestani, Ehsan, Bauer, Peter, Senderek, Jan, Klopstock, Thomas, Pessia, Mauro
Publicado 2020

Kv1.1 knock-in ataxic mice exhibit spontaneous myokymic activity exacerbated by fatigue, ischemia and low temperature

por Brunetti, Orazio, Imbrici, Paola, Botti, Fabio Massimo, Pettorossi, Vito Enrico, D'Adamo, Maria Cristina, Valentino, Mario, Zammit, Christian, Mora, Marina, Gibertini, Sara, Di Giovanni, Giuseppe, Muscat, Richard, Pessia, Mauro
Publicado 2012

KCNK18 Biallelic Variants Associated with Intellectual Disability and Neurodevelopmental Disorders Alter TRESK Channel Activity

por Pavinato, Lisa, Nematian-Ardestani, Ehsan, Zonta, Andrea, De Rubeis, Silvia, Buxbaum, Joseph, Mancini, Cecilia, Bruselles, Alessandro, Tartaglia, Marco, Pessia, Mauro, Tucker, Stephen J., D’Adamo, Maria Cristina, Brusco, Alfredo
Publicado 2021

Clinical and Functional Study of a De Novo Variant in the PVP Motif of Kv1.1 Channel Associated with Epilepsy, Developmental Delay and Ataxia

por Dinoi, Giorgia, Morin, Michael, Conte, Elena, Mor Shaked, Hagar, Coppola, Maria Antonietta, D’Adamo, Maria Cristina, Elpeleg, Orly, Liantonio, Antonella, Hartmann, Inbar, De Luca, Annamaria, Blunck, Rikard, Russo, Angelo, Imbrici, Paola
Publicado 2022

A Calsequestrin-1 Mutation Associated with a Skeletal Muscle Disease Alters Sarcoplasmic Ca(2+) Release

por D’Adamo, Maria Cristina, Sforna, Luigi, Visentin, Sergio, Grottesi, Alessandro, Servettini, llenio, Guglielmi, Luca, Macchioni, Lara, Saredi, Simona, Curcio, Maurizio, De Nuccio, Chiara, Hasan, Sonia, Corazzi, Lanfranco, Franciolini, Fabio, Mora, Marina, Catacuzzeno, Luigi, Pessia, Mauro
Publicado 2016

Musculoskeletal Features without Ataxia Associated with a Novel de novo Mutation in KCNA1 Impairing the Voltage Sensitivity of Kv1.1 Channel

por Imbrici, Paola, Accogli, Andrea, Blunck, Rikard, Altamura, Concetta, Iacomino, Michele, D’Adamo, Maria Cristina, Allegri, Anna, Pedemonte, Marina, Brolatti, Noemi, Vari, Stella, Cataldi, Matteo, Capra, Valeria, Gustincich, Stefano, Zara, Federico, Desaphy, Jean-Francois, Fiorillo, Chiara
Publicado 2021

The CaMKII/MLC1 Axis Confers Ca(2+)-Dependence to Volume-Regulated Anion Channels (VRAC) in Astrocytes

por Brignone, Maria Stefania, Lanciotti, Angela, Michelucci, Antonio, Mallozzi, Cinzia, Camerini, Serena, Catacuzzeno, Luigi, Sforna, Luigi, Caramia, Martino, D’Adamo, Maria Cristina, Ceccarini, Marina, Molinari, Paola, Macioce, Pompeo, Macchia, Gianfranco, Petrucci, Tamara Corinna, Pessia, Mauro, Visentin, Sergio, Ambrosini, Elena
Publicado 2022

Gain-of-function defects of astrocytic Kir4.1 channels in children with autism spectrum disorders and epilepsy

por Sicca, Federico, Ambrosini, Elena, Marchese, Maria, Sforna, Luigi, Servettini, Ilenio, Valvo, Giulia, Brignone, Maria Stefania, Lanciotti, Angela, Moro, Francesca, Grottesi, Alessandro, Catacuzzeno, Luigi, Baldini, Sara, Hasan, Sonia, D’Adamo, Maria Cristina, Franciolini, Fabio, Molinari, Paola, Santorelli, Filippo M., Pessia, Mauro
Publicado 2016