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

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

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

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

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

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

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

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