Locus Coeruleus Neurons' Firing Pattern Is Regulated by ERG Voltage-Gated K + Channels
Hasan, Sonia, Delicata, Francis, Guasti, Leonardo, Duranti, Claudia, Haidar, Fatemah Mousalem, Arcangeli, Annarosa, Imbrici, Paola, Pessia, Mauro, Valentino, Mario, D'Adamo, Maria Cristina
Published in International journal of molecular sciences (05.12.2022)
Published in International journal of molecular sciences (05.12.2022)
Get full text
Journal Article
Kcnj16 (Kir5.1) Gene Ablation Causes Subfertility and Increases the Prevalence of Morphologically Abnormal Spermatozoa
Poli, Giulia, Hasan, Sonia, Belia, Silvia, Cenciarini, Marta, Tucker, Stephen J, Imbrici, Paola, Shehab, Safa, Pessia, Mauro, Brancorsini, Stefano, D'Adamo, Maria Cristina
Published in International journal of molecular sciences (01.06.2021)
Published in International journal of molecular sciences (01.06.2021)
Get full text
Journal Article
A channelopathy mutation in the voltage-sensor discloses contributions of a conserved phenylalanine to gating properties of Kv1.1 channels and ataxia
Hasan, Sonia, Bove, Cecilia, Silvestri, Gabriella, Mantuano, Elide, Modoni, Anna, Veneziano, Liana, Macchioni, Lara, Hunter, Therese, Hunter, Gary, Pessia, Mauro, D’Adamo, Maria Cristina
Published in Scientific reports (04.07.2017)
Published in Scientific reports (04.07.2017)
Get full text
Journal Article
Identification of a New de Novo Mutation Underlying Regressive Episodic Ataxia Type I
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
Published in Frontiers in neurology (25.07.2018)
Published in Frontiers in neurology (25.07.2018)
Get full text
Journal Article
Commentary: A channelopathy mutation in the voltage-sensor discloses contributions of a conserved phenylalanine to gating properties of Kv1.1 channels and ataxia
Hasan, Sonia, Hunter, Therese, Hunter, Gary, Pessia, Mauro, D'Adamo, Maria Cristina
Published in Frontiers in cellular neuroscience (20.06.2018)
Published in Frontiers in cellular neuroscience (20.06.2018)
Get full text
Journal Article
A Calsequestrin-1 Mutation Associated with a Skeletal Muscle Disease Alters Sarcoplasmic Ca2+ Release
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
Published in PloS one (19.05.2016)
Published in PloS one (19.05.2016)
Get full text
Journal Article
Altered functional properties of a missense variant in the TRESK K+ channel (KCNK18) associated with migraine and intellectual disability
Imbrici, Paola, Nematian-Ardestani, Ehsan, Hasan, Sonia, Pessia, Mauro, Tucker, Stephen J., D’Adamo, Maria Cristina
Published in Pflügers Archiv (01.07.2020)
Published in Pflügers Archiv (01.07.2020)
Get full text
Journal Article
Gain-of-function defects of astrocytic Kir4.1 channels in children with autism spectrum disorders and epilepsy
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
Published in Scientific reports (28.09.2016)
Published in Scientific reports (28.09.2016)
Get full text
Journal Article
Lethal digenic mutations in the K + channels Kir4.1 ( KCNJ10 ) and SLACK ( KCNT1 ) associated with severe-disabling seizures and neurodevelopmental delay
Hasan, Sonia, Balobaid, Ameera, Grottesi, Alessandro, Dabbagh, Omar, Cenciarini, Marta, Rawashdeh, Rifaat, Al-Sagheir, Afaf, Bove, Cecilia, Macchioni, Lara, Pessia, Mauro, Al-Owain, Mohammed, D'Adamo, Maria Cristina
Published in Journal of neurophysiology (01.10.2017)
Published in Journal of neurophysiology (01.10.2017)
Get full text
Journal Article
New insights into the pathogenesis and therapeutics of episodic ataxia type 1
D'Adamo, Maria Cristina, Hasan, Sonia, Guglielmi, Luca, Servettini, Ilenio, Cenciarini, Marta, Catacuzzeno, Luigi, Franciolini, Fabio
Published in Frontiers in cellular neuroscience (19.08.2015)
Published in Frontiers in cellular neuroscience (19.08.2015)
Get full text
Journal Article
Electromechanical coupling of the Kv1.1 voltage-gated K+ channel is fine-tuned by the simplest amino acid residue in the S4-S5 linker
Hasan, Sonia, Megaro, Alfredo, Cenciarini, Marta, Coretti, Lorena, Botti, Fabio Massimo, Imbrici, Paola, Steinbusch, Harry W. M., Hunter, Therese, Hunter, Gary, Pessia, Mauro, D’Adamo, Maria Cristina
Published in Pflügers Archiv (01.07.2020)
Published in Pflügers Archiv (01.07.2020)
Get full text
Journal Article
KCNA4 deficiency leads to a syndrome of abnormal striatum, congenital cataract and intellectual disability
Kaya, Namik, Alsagob, Maysoon, D'Adamo, Maria Cristina, Al-Bakheet, Albandary, Hasan, Sonia, Muccioli, Maria, Almutairi, Faten B, Almass, Rawan, Aldosary, Mazhor, Monies, Dorota, Mustafa, Osama M, Alyounes, Banan, Kenana, Rosan, Al-Zahrani, Jawaher, Naim, Eva, Binhumaid, Faisal S, Qari, Alya, Almutairi, Fatema, Meyer, Brian, Plageman, Timothy F, Pessia, Mauro, Colak, Dilek, Al-Owain, Mohammed
Published in Journal of medical genetics (01.11.2016)
Published in Journal of medical genetics (01.11.2016)
Get full text
Journal Article
A Calsequestrin-1 Mutation Associated with a Skeletal Muscle Disease Alters Sarcoplasmic Ca.sup.2+ Release
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
Published in PloS one (19.05.2016)
Published in PloS one (19.05.2016)
Get full text
Journal Article
Identification of a New de Novo Mutation Underlying Regressive Episodic Ataxia Type I
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
Published in Frontiers in neurology (01.01.2018)
Published in Frontiers in neurology (01.01.2018)
Get full text
Report