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Kv1.1 Channelopathies: Pathophysiological Mechanisms and Therapeutic Approaches
Author / Creator:D'Adamo, Maria Cristina ; Liantonio, Antonella ; Rolland, Jean-Francois ; Pessia, Mauro ; Imbrici, Paola
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2020-04, Vol.21 (8), p.2935
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Skeletal muscle ClC-1 chloride channels in health and diseases
Author / Creator:Altamura, Concetta ; Desaphy, Jean-Francois ; Conte, Diana ; De Luca, Annamaria ; Imbrici, Paola
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Pflügers Archiv, 2020-07, Vol.472 (7), p.961-975
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Pleiotropic Effects of Direct Oral Anticoagulants in Chronic Heart Failure and Atrial Fibrillation: Machine Learning Analysis
Author / Creator:Mele, Marco ; Mele, Antonietta ; Imbrici, Paola ; Samarelli, Francesco ; Purgatorio, Rosa ; Dinoi, Giorgia ; Correale, Michele ; Nicolotti, Orazio ; De Luca, Annamaria ; Brunetti, Natale Daniele ; Liantonio, Antonella ; Amoroso, Nicola
Publisher:Switzerland: MDPI AG
Journal title:Molecules (Basel, Switzerland), 2024-06, Vol.29 (11), p.2651
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Altered functional properties of a missense variant in the TRESK K+ channel (KCNK18) associated with migraine and intellectual disability
Author / Creator:Imbrici, Paola ; Nematian-Ardestani, Ehsan ; Hasan, Sonia ; Pessia, Mauro ; Tucker, Stephen J. ; D’Adamo, Maria Cristina
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Pflügers Archiv, 2020-07, Vol.472 (7), p.923-930
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Small Molecules Targeting Kidney ClC-K Chloride Channels: Applications in Rare Tubulopathies and Common Cardiovascular Diseases
Author / Creator:Coppola, Maria Antonietta ; Pusch, Michael ; Imbrici, Paola ; Liantonio, Antonella
Publisher:Switzerland: MDPI AG
Journal title:Biomolecules (Basel, Switzerland), 2023-04, Vol.13 (4), p.710
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Biophysical Aspects of Neurodegenerative and Neurodevelopmental Disorders Involving Endo-/Lysosomal CLC Cl - /H + Antiporters
Author / Creator:Coppola, Maria Antonietta ; Tettey-Matey, Abraham ; Imbrici, Paola ; Gavazzo, Paola ; Liantonio, Antonella ; Pusch, Michael
Publisher:Switzerland: MDPI AG
Journal title:Life (Basel, Switzerland), 2023-06, Vol.13 (6), p.1317
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A large cohort of myotonia congenita probands: novel mutations and a high-frequency mutation region in exons 4 and 5 of the CLCN1 gene
Author / Creator:Brugnoni, Raffaella ; Kapetis, Dimos ; Imbrici, Paola ; Pessia, Mauro ; Canioni, Eleonora ; Colleoni, Lara ; de Rosbo, Nicole Kerlero ; Morandi, Lucia ; Cudia, Paola ; Gashemi, Nasrin ; Bernasconi, Pia ; Desaphy, Jean-Francois ; Conte, Diana ; Mantegazza, Renato
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2013-09, Vol.58 (9), p.581-587
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Therapeutic Approaches to Tuberous Sclerosis Complex: From Available Therapies to Promising Drug Targets
Author / Creator:Conte, Elena ; Boccanegra, Brigida ; Dinoi, Giorgia ; Pusch, Michael ; De Luca, Annamaria ; Liantonio, Antonella ; Imbrici, Paola
Publisher:Switzerland: MDPI AG
Journal title:Biomolecules (Basel, Switzerland), 2024-09, Vol.14 (9), p.1190
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Sarcoplasmic Reticulum Ca2+ Buffer Proteins: A Focus on the Yet-To-Be-Explored Role of Sarcalumenin in Skeletal Muscle Health and Disease
Author / Creator:Conte, Elena ; Dinoi, Giorgia ; Imbrici, Paola ; De Luca, Annamaria ; Liantonio, Antonella
Publisher:Basel: MDPI AG
Journal title:Cells (Basel, Switzerland), 2023-02, Vol.12 (5), p.715
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VAL-1221 for the treatment of patients with Lafora disease: study protocol for a single-arm, open-label clinical trial
Author / Creator:Muccioli, Lorenzo ; Vignatelli, Luca ; Tappatà, Maria ; Mazzone, Serena ; Zenesini, Corrado ; Armstrong, Dustin ; Michelucci, Roberto ; Bisulli, Francesca ; Altomare, Cosimo ; Carella, Massimo ; Costa, Cinzia ; Damante, Giuseppe ; Vito, Lidia Di ; d’Orsi, Giuseppe ; Gambacorta, Nicola ; Imbrici, Paola ; Imperatore, Valentina ; Liantonio, Antonella ; Licchetta, Laura ; Lodi, Raffaele ; Mantuano, Paola ; Palumbo, Orazio ; Pasini, Elena ; Prontera, Paolo
Publisher:England: British Medical Journal Publishing Group
Journal title:BMJ open, 2024-10, Vol.14 (10), p.e085062
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Electromechanical coupling of the Kv1.1 voltage-gated K+ channel is fine-tuned by the simplest amino acid residue in the S4-S5 linker
Author / Creator: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
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Pflügers Archiv, 2020-07, Vol.472 (7), p.899-909
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Alteration of STIM1/Orai1-Mediated SOCE in Skeletal Muscle: Impact in Genetic Muscle Diseases and Beyond
Author / Creator:Conte, Elena ; Imbrici, Paola ; Mantuano, Paola ; Coppola, Maria Antonietta ; Camerino, Giulia Maria ; De Luca, Annamaria ; Liantonio, Antonella
Publisher:Switzerland: MDPI AG
Journal title:Cells (Basel, Switzerland), 2021-10, Vol.10 (10), p.2722
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Retrospective Clinical Investigation into the Association Between Abnormal Blood Clotting, Oral Anticoagulant Therapy, and Medium-Term Mortality in a Cohort of COVID-19 Patients
Author / Creator:Dinoi, Giorgia ; Togo, Maria Vittoria ; Guida, Pietro ; Deruvo, Caterina ; Samarelli, Francesco ; Imbrici, Paola ; Nicolotti, Orazio ; De Luca, Annamaria ; Mastroianni, Franco ; Liantonio, Antonella ; Altomare, Cosimo Damiano
Publisher:Switzerland: MDPI AG
Journal title:Biomedicines, 2025-02, Vol.13 (3), p.535
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Brugada Syndrome: More than a Monogenic Channelopathy
Author / Creator:Liantonio, Antonella ; Bertini, Matteo ; Mele, Antonietta ; Balla, Cristina ; Dinoi, Giorgia ; Selvatici, Rita ; Mele, Marco ; De Luca, Annamaria ; Gualandi, Francesca ; Imbrici, Paola
Publisher:Basel: MDPI AG
Journal title:Biomedicines, 2023-08, Vol.11 (8), p.2297
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The Biallelic Inheritance of Two Novel SCN1A Variants Results in Developmental and Epileptic Encephalopathy Responsive to Levetiracetam
Author / Creator:Dinoi, Giorgia ; Conte, Elena ; Palumbo, Orazio ; Benvenuto, Mario ; Coppola, Maria Antonietta ; Palumbo, Pietro ; Lastella, Patrizia ; Boccanegra, Brigida ; Di Muro, Ester ; Castori, Marco ; Carella, Massimo ; Sciruicchio, Vittorio ; de Tommaso, Marina ; Liantonio, Antonella ; De Luca, Annamaria ; La Neve, Angela ; Imbrici, Paola
Publisher:Switzerland: MDPI AG
Journal title:Biomedicines, 2024-08, Vol.12 (8), p.1698
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Mutations in MYBPC3 and MYH7 in Association with Brugada Type 1 ECG Pattern: Overlap between Brugada Syndrome and Hypertrophic Cardiomyopathy?
Author / Creator:Farnè, Marianna ; Balla, Cristina ; Margutti, Alice ; Selvatici, Rita ; De Raffele, Martina ; Di Domenico, Assunta ; Imbrici, Paola ; De Maria, Elia ; Biffi, Mauro ; Bertini, Matteo ; Rapezzi, Claudio ; Ferlini, Alessandra ; Gualandi, Francesca
Publisher:Caserta: MDPI AG
Journal title:Cardiogenetics, 2021-09, Vol.11 (3), p.139-147
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Musculoskeletal Features without Ataxia Associated with a Novel de novo Mutation in KCNA1 Impairing the Voltage Sensitivity of Kv1.1 Channel
Author / Creator: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
Publisher:Switzerland: MDPI AG
Journal title:Biomedicines, 2021-01, Vol.9 (1), p.75
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Blockers of Skeletal Muscle Nav1.4 Channels: From Therapy of Myotonic Syndrome to Molecular Determinants of Pharmacological Action and Back
Author / Creator:De Bellis, Michela ; Boccanegra, Brigida ; Cerchiara, Alessandro Giovanni ; Imbrici, Paola ; De Luca, Annamaria
Publisher:MDPI
Journal title:International journal of molecular sciences, 2023-01, Vol.24 (1), p.857
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Impact of Frailty on Outcome of Older Patients With Non-ST Elevation Acute Myocardial Infarction Who Undergo Percutaneous Coronary Intervention
Author / Creator:Mele, Marco ; Ragnatela, Ilaria ; Romano, Matteo ; Tabella, Erika ; Rossi, Luciano Umberto ; Mautone, Francesco ; Mele, Antonietta ; Liantonio, Antonella ; Imbrici, Paola ; Correale, Michele ; Santoro, Francesco ; Brunetti, Natale Daniele
Publisher:New York: Elsevier Inc
Journal title:The American journal of cardiology, 2024-11, Vol.230, p.41-46
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A Novel KCNA2 Variant in a Patient with Non-Progressive Congenital Ataxia and Epilepsy: Functional Characterization and Sensitivity to 4-Aminopyridine
Author / Creator:Imbrici, Paola ; Conte, Elena ; Blunck, Rikard ; Stregapede, Fabrizia ; Liantonio, Antonella ; Tosi, Michele ; D’Adamo, Maria Cristina ; De Luca, Annamaria ; Brankovic, Vesna ; Zanni, Ginevra
Publisher:Basel: MDPI AG
Journal title:International journal of molecular sciences, 2021-09, Vol.22 (18), p.9913
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Showing 1 to 20 of 34 results

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Kv1.1 Channelopathies: Pathophysiological Mechanisms and Therapeutic Approaches

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Skeletal muscle ClC-1 chloride channels in health and diseases

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Pleiotropic Effects of Direct Oral Anticoagulants in Chronic Heart Failure and Atrial Fibrillation: Machine Learning Analysis

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Altered functional properties of a missense variant in the TRESK K+ channel (KCNK18) associated with migraine and intellectual disability

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Small Molecules Targeting Kidney ClC-K Chloride Channels: Applications in Rare Tubulopathies and Common Cardiovascular Diseases

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Biophysical Aspects of Neurodegenerative and Neurodevelopmental Disorders Involving Endo-/Lysosomal CLC Cl - /H + Antiporters

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A large cohort of myotonia congenita probands: novel mutations and a high-frequency mutation region in exons 4 and 5 of the CLCN1 gene

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Therapeutic Approaches to Tuberous Sclerosis Complex: From Available Therapies to Promising Drug Targets

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Sarcoplasmic Reticulum Ca2+ Buffer Proteins: A Focus on the Yet-To-Be-Explored Role of Sarcalumenin in Skeletal Muscle Health and Disease

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VAL-1221 for the treatment of patients with Lafora disease: study protocol for a single-arm, open-label clinical trial

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Electromechanical coupling of the Kv1.1 voltage-gated K+ channel is fine-tuned by the simplest amino acid residue in the S4-S5 linker

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Alteration of STIM1/Orai1-Mediated SOCE in Skeletal Muscle: Impact in Genetic Muscle Diseases and Beyond

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Retrospective Clinical Investigation into the Association Between Abnormal Blood Clotting, Oral Anticoagulant Therapy, and Medium-Term Mortality in a Cohort of COVID-19 Patients

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Brugada Syndrome: More than a Monogenic Channelopathy

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The Biallelic Inheritance of Two Novel SCN1A Variants Results in Developmental and Epileptic Encephalopathy Responsive to Levetiracetam

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Mutations in MYBPC3 and MYH7 in Association with Brugada Type 1 ECG Pattern: Overlap between Brugada Syndrome and Hypertrophic Cardiomyopathy?

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

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Blockers of Skeletal Muscle Nav1.4 Channels: From Therapy of Myotonic Syndrome to Molecular Determinants of Pharmacological Action and Back

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Impact of Frailty on Outcome of Older Patients With Non-ST Elevation Acute Myocardial Infarction Who Undergo Percutaneous Coronary Intervention

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

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