Commentary: 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, Therese Hunter, Gary Hunter, Mauro Pessia, Mauro Pessia, Maria Cristina D'Adamo
Published 2018-06-01

Dexamethasone in Glioblastoma Multiforme Therapy: Mechanisms and Controversies

by Marta Cenciarini, Mario Valentino, Silvia Belia, Luigi Sforna, Paolo Rosa, Simona Ronchetti, Maria Cristina D’Adamo, Mauro Pessia, Mauro Pessia
Published 2019-03-01

Identification of a New de Novo Mutation Underlying Regressive Episodic Ataxia Type I

by Zeynep S. Karalok, Alfredo Megaro, Marta Cenciarini, Alev Guven, Sonia M. Hasan, Birce D. Taskin, Paola Imbrici, Serdar Ceylaner, Mauro Pessia, Mauro Pessia, Maria C. D'Adamo
Published 2018-07-01

Kv1.1 Channelopathies: Pathophysiological Mechanisms and Therapeutic Approaches

by Maria Cristina D’Adamo, Antonella Liantonio, Jean-Francois Rolland, Mauro Pessia, Paola Imbrici
Published 2020-04-01

<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

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

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

Autism with Seizures and Intellectual Disability: Possible Causative Role of Gain-of-function of the Inwardly-Rectifying K+ Channel Kir4.1

by 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
Published 2011-07-01

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

by 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
Published 2012-09-01

<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

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