IMBRICI, Paola
IMBRICI, Paola
DIPARTIMENTO DI FARMACIA-SCIENZE DEL FARMACO
A large cohort of myotonia congenita probands: novel mutations and a high-frequency mutation region in exons 4 and 5 of the CLCN1 gene.
2013-01-01 Brugnoni, R; Kapetis, D; Imbrici, Paola; Pessia, M; Canioni, E; Colleoni, L; de Rosbo, Nk; Morandi, L; Cudia, P; Gashemi, N; Bernasconi, P; Desaphy, Jean Francois; Conte, Diana; Mantegazza, R.
A Novel KCNA1 Mutation Identified in an Italian Family Affected by Episodic Ataxia Type 1.
2008-01-01 Imbrici, Paola; Gualandi, F; D'Adamo, Mc; TADDEI MASIERI, M; Cudia, P; DE GRANDIS, D; Mannucci, R; Nicoletti, I; Tucker, Sj; Ferlini, A; Pessia, M.
A novel KCNA1 mutation in a patient with paroxysmal ataxia, myokymia, painful contractures and metabolic dysfunctions
2017-01-01 Imbrici, Paola; Altamura, Concetta; Gualandi, Francesca; Mangiatordi, Giuseppe Felice; Neri, Marcella; De Maria, Giovanni; Ferlini, Alessandra; Padovani, Alessandro; D'Adamo, Maria Cristina; Nicolotti, Orazio; Pessia, Mauro; Conte, Diana; Filosto, Massimiliano; Desaphy, Jean-Francois
A novel kcna2 variant in a patient with non-progressive congenital ataxia and epilepsy: Functional characterization and sensitivity to 4-aminopyridine
2021-01-01 Imbrici, P.; Conte, E.; Blunck, R.; Stregapede, F.; Liantonio, A.; Tosi, M.; D'Adamo, M. C.; De Luca, A.; Brankovic, V.; Zanni, G.
All atom molecular dynamics simulation of the K+ Channel Chimera Kv1.2/2.1
2010-01-01 Grottesi, A; Imbrici, Paola; Chillemi, G; Pessia, M.
Alteration of stim1/orai1-mediated soce in skeletal muscle: Impact in genetic muscle diseases and beyond
2021-01-01 Conte, E.; Imbrici, P.; Mantuano, P.; Coppola, M. A.; Camerino, G. M.; De Luca, A.; Liantonio, A.
Altered functional properties of a missense variant in the TRESK K+ channel (KCNK18) associated with migraine and intellectual disability
2020-01-01 Imbrici, P.; Nematian-Ardestani, E.; Hasan, S.; Pessia, M.; Tucker, S. J.; D'Adamo, M. C.
An activator of voltage-gated K+ channels Kv1.1 as a therapeutic candidate for episodic ataxia type 1
2023-01-01 Servettini, Ilenio; Talani, Giuseppe; Megaro, Alfredo; Setzu, Maria Dolores; Biggio, Francesca; Briffa, Michelle; Guglielmi, Luca; Savalli, Nicoletta; Binda, Francesca; Delicata, Francis; Bru-Mercier, Gilles; Vassallo, Neville; Maglione, Vittorio; Cauchi, Ruben J; Di Pardo, Alba; Collu, Maria; Imbrici, Paola; Catacuzzeno, Luigi; D'Adamo, Maria Cristina; Olcese, Riccardo; Pessia, Mauro
Andersen-Tawil syndrome: New potassium channel mutations and possible phenotypic variation
2005-01-01 Davies, N. P.; Imbrici, Paola; Fialho, D.; Herd, C.; Bilsland, L. G.; Weber, A.; Mueller, R.; Hilton Jones, D.; Ealing, J.; Boothman, B. R.; Giunti, P.; Parsons, L. M.; Thomas, M.; Manzur, A. Y.; Jurkat Rott, K.; Lehmann Horn, F.; Chinnery, P. F.; Rose, M.; Kullmann, D. M.; Hanna, M. G.
ATP Sensitive Potassium Channels in the Skeletal Muscle Function: Involvement of the KCNJ11(Kir6.2) Gene in the Determination of Mechanical Warner Bratzer Shear Force
2016-01-01 Tricarico, Domenico; Selvaggi, Maria; Passantino, Giuseppe; De Palo, Pasquale; Dario, Cataldo; Centoducati, Pasquale; Tateo, Alessandra; Curci, Angela; Maqoud, Fatima; Mele, Antonietta; Camerino, Giulia M.; Liantonio, Antonella; Imbrici, Paola; Zizzo, Nicola
Autism with seizure and intellectual disability: possible causative role of gain-of-function of the Inwardly-Rectifying K+ Channel Kir4.1
2011-01-01 Sicca, F; Imbrici, Paola; D'Adamo, Mc; Moro, F; Bonatti, F; Brovedani, P; Grottesi, A; Guerrini, R; Masi, G; Santorelli, Fm; Pessia, M.
Biophysical Aspects of Neurodegenerative and Neurodevelopmental Disorders Involving Endo-/Lysosomal CLC Cl-/H+ Antiporters
2023-01-01 Coppola, Maria Antonietta; Tettey-Matey, Abraham; Imbrici, Paola; Gavazzo, Paola; Liantonio, Antonella; Pusch, Michael
Blockers of Skeletal Muscle Nav1.4 Channels: From Therapy of Myotonic Syndrome to Molecular Determinants of Pharmacological Action and Back.
2023-01-01 DE BELLIS, Michela; Boccanegra, Brigida; Cerchiara, ALESSANDRO GIOVANNI; Imbrici, Paola; DE LUCA, Annamaria
Brugada Syndrome: More than a Monogenic Channelopathy
2023-01-01 Liantonio, Antonella; Bertini, Matteo; Mele, Antonietta; Balla, Cristina; Dinoi, Giorgia; Selvatici, Rita; Mele, Marco; De Luca, Annamaria; Gualandi, Francesca; Imbrici, Paola
Changes in Expression and Cellular Localization of Rat Skeletal Muscle ClC-1 Chloride Channel in Relation to Age, Myofiber Phenotype and PKC Modulation
2020-01-01 Conte, E.; Fonzino, A.; Cibelli, A.; De Benedictis, V.; Imbrici, P.; Nicchia, G. P.; Pierno, S.; Camerino, G. M.
Chaperone activity of niflumic acid on ClC-1 chloride channel mutants causing myotonia congenita
2022-01-01 Altamura, Concetta; Conte, Elena; Campanale, Carmen; Laghetti, Paola; Saltarella, Ilaria; Camerino, Giulia Maria; Imbrici, Paola; Desaphy, Jean-Francois
Characterization of Student Drinking Behaviors at the Beginning of the First Academic Year at One University in Southern Italy
2019-01-01 De Salvia, Maria Antonietta; Dʼuggento, Angela Maria; Aquilino, Giovanni; Tattoli, Maria; Finelli, Carmine; Imbrici, Paola; Desaphy, Jean Francois; Giustino, Arcangela
ClC-1 chloride channels: state-of-the-art research and future challenges
2015-01-01 Imbrici, Paola; Altamura, C; Pessia, M; Mantegazza, R; Desaphy, Jean Francois; Conte, Diana
ClC-1 mutations in myotonia congenita patients: insights into molecular gating mechanisms and genotype-phenotype correlation
2015-01-01 Imbrici, P; Maggi, L; Mangiatordi, G F; Dinardo, M M; Altamura, Concetta; Brugnoni, R; Alberga, D; Pinter, G L; Ricci, G; Siciliano, G; Micheli, R; Annicchiarico, G; Lattanzi, G; Nicolotti, O; Morandi, L; Bernasconi, P; Desaphy, J-F; Mantegazza, R; Camerino, D C
Clinical and Functional Study of a De Novo Variant in the PVP Motif of Kv1.1 Channel Associated with Epilepsy, Developmental Delay and Ataxia
2022-01-01 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
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| A large cohort of myotonia congenita probands: novel mutations and a high-frequency mutation region in exons 4 and 5 of the CLCN1 gene. | 1-gen-2013 | Brugnoni, R; Kapetis, D; Imbrici, Paola; Pessia, M; Canioni, E; Colleoni, L; de Rosbo, Nk; Morandi, L; Cudia, P; Gashemi, N; Bernasconi, P; Desaphy, Jean Francois; Conte, Diana; Mantegazza, R. | |
| A Novel KCNA1 Mutation Identified in an Italian Family Affected by Episodic Ataxia Type 1. | 1-gen-2008 | Imbrici, Paola; Gualandi, F; D'Adamo, Mc; TADDEI MASIERI, M; Cudia, P; DE GRANDIS, D; Mannucci, R; Nicoletti, I; Tucker, Sj; Ferlini, A; Pessia, M. | |
| A novel KCNA1 mutation in a patient with paroxysmal ataxia, myokymia, painful contractures and metabolic dysfunctions | 1-gen-2017 | Imbrici, Paola; Altamura, Concetta; Gualandi, Francesca; Mangiatordi, Giuseppe Felice; Neri, Marcella; De Maria, Giovanni; Ferlini, Alessandra; Padovani, Alessandro; D'Adamo, Maria Cristina; Nicolotti, Orazio; Pessia, Mauro; Conte, Diana; Filosto, Massimiliano; Desaphy, Jean-Francois | |
| A novel kcna2 variant in a patient with non-progressive congenital ataxia and epilepsy: Functional characterization and sensitivity to 4-aminopyridine | 1-gen-2021 | Imbrici, P.; Conte, E.; Blunck, R.; Stregapede, F.; Liantonio, A.; Tosi, M.; D'Adamo, M. C.; De Luca, A.; Brankovic, V.; Zanni, G. | |
| All atom molecular dynamics simulation of the K+ Channel Chimera Kv1.2/2.1 | 1-gen-2010 | Grottesi, A; Imbrici, Paola; Chillemi, G; Pessia, M. | |
| Alteration of stim1/orai1-mediated soce in skeletal muscle: Impact in genetic muscle diseases and beyond | 1-gen-2021 | Conte, E.; Imbrici, P.; Mantuano, P.; Coppola, M. A.; Camerino, G. M.; De Luca, A.; Liantonio, A. | |
| Altered functional properties of a missense variant in the TRESK K+ channel (KCNK18) associated with migraine and intellectual disability | 1-gen-2020 | Imbrici, P.; Nematian-Ardestani, E.; Hasan, S.; Pessia, M.; Tucker, S. J.; D'Adamo, M. C. | |
| An activator of voltage-gated K+ channels Kv1.1 as a therapeutic candidate for episodic ataxia type 1 | 1-gen-2023 | Servettini, Ilenio; Talani, Giuseppe; Megaro, Alfredo; Setzu, Maria Dolores; Biggio, Francesca; Briffa, Michelle; Guglielmi, Luca; Savalli, Nicoletta; Binda, Francesca; Delicata, Francis; Bru-Mercier, Gilles; Vassallo, Neville; Maglione, Vittorio; Cauchi, Ruben J; Di Pardo, Alba; Collu, Maria; Imbrici, Paola; Catacuzzeno, Luigi; D'Adamo, Maria Cristina; Olcese, Riccardo; Pessia, Mauro | |
| Andersen-Tawil syndrome: New potassium channel mutations and possible phenotypic variation | 1-gen-2005 | Davies, N. P.; Imbrici, Paola; Fialho, D.; Herd, C.; Bilsland, L. G.; Weber, A.; Mueller, R.; Hilton Jones, D.; Ealing, J.; Boothman, B. R.; Giunti, P.; Parsons, L. M.; Thomas, M.; Manzur, A. Y.; Jurkat Rott, K.; Lehmann Horn, F.; Chinnery, P. F.; Rose, M.; Kullmann, D. M.; Hanna, M. G. | |
| ATP Sensitive Potassium Channels in the Skeletal Muscle Function: Involvement of the KCNJ11(Kir6.2) Gene in the Determination of Mechanical Warner Bratzer Shear Force | 1-gen-2016 | Tricarico, Domenico; Selvaggi, Maria; Passantino, Giuseppe; De Palo, Pasquale; Dario, Cataldo; Centoducati, Pasquale; Tateo, Alessandra; Curci, Angela; Maqoud, Fatima; Mele, Antonietta; Camerino, Giulia M.; Liantonio, Antonella; Imbrici, Paola; Zizzo, Nicola | |
| Autism with seizure and intellectual disability: possible causative role of gain-of-function of the Inwardly-Rectifying K+ Channel Kir4.1 | 1-gen-2011 | Sicca, F; Imbrici, Paola; D'Adamo, Mc; Moro, F; Bonatti, F; Brovedani, P; Grottesi, A; Guerrini, R; Masi, G; Santorelli, Fm; Pessia, M. | |
| Biophysical Aspects of Neurodegenerative and Neurodevelopmental Disorders Involving Endo-/Lysosomal CLC Cl-/H+ Antiporters | 1-gen-2023 | Coppola, Maria Antonietta; Tettey-Matey, Abraham; Imbrici, Paola; Gavazzo, Paola; Liantonio, Antonella; Pusch, Michael | |
| Blockers of Skeletal Muscle Nav1.4 Channels: From Therapy of Myotonic Syndrome to Molecular Determinants of Pharmacological Action and Back. | 1-gen-2023 | DE BELLIS, Michela; Boccanegra, Brigida; Cerchiara, ALESSANDRO GIOVANNI; Imbrici, Paola; DE LUCA, Annamaria | |
| Brugada Syndrome: More than a Monogenic Channelopathy | 1-gen-2023 | Liantonio, Antonella; Bertini, Matteo; Mele, Antonietta; Balla, Cristina; Dinoi, Giorgia; Selvatici, Rita; Mele, Marco; De Luca, Annamaria; Gualandi, Francesca; Imbrici, Paola | |
| Changes in Expression and Cellular Localization of Rat Skeletal Muscle ClC-1 Chloride Channel in Relation to Age, Myofiber Phenotype and PKC Modulation | 1-gen-2020 | Conte, E.; Fonzino, A.; Cibelli, A.; De Benedictis, V.; Imbrici, P.; Nicchia, G. P.; Pierno, S.; Camerino, G. M. | |
| Chaperone activity of niflumic acid on ClC-1 chloride channel mutants causing myotonia congenita | 1-gen-2022 | Altamura, Concetta; Conte, Elena; Campanale, Carmen; Laghetti, Paola; Saltarella, Ilaria; Camerino, Giulia Maria; Imbrici, Paola; Desaphy, Jean-Francois | |
| Characterization of Student Drinking Behaviors at the Beginning of the First Academic Year at One University in Southern Italy | 1-gen-2019 | De Salvia, Maria Antonietta; Dʼuggento, Angela Maria; Aquilino, Giovanni; Tattoli, Maria; Finelli, Carmine; Imbrici, Paola; Desaphy, Jean Francois; Giustino, Arcangela | |
| ClC-1 chloride channels: state-of-the-art research and future challenges | 1-gen-2015 | Imbrici, Paola; Altamura, C; Pessia, M; Mantegazza, R; Desaphy, Jean Francois; Conte, Diana | |
| ClC-1 mutations in myotonia congenita patients: insights into molecular gating mechanisms and genotype-phenotype correlation | 1-gen-2015 | Imbrici, P; Maggi, L; Mangiatordi, G F; Dinardo, M M; Altamura, Concetta; Brugnoni, R; Alberga, D; Pinter, G L; Ricci, G; Siciliano, G; Micheli, R; Annicchiarico, G; Lattanzi, G; Nicolotti, O; Morandi, L; Bernasconi, P; Desaphy, J-F; Mantegazza, R; Camerino, D C | |
| Clinical and Functional Study of a De Novo Variant in the PVP Motif of Kv1.1 Channel Associated with Epilepsy, Developmental Delay and Ataxia | 1-gen-2022 | 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 |