Sfoglia per Autore
Functional characterization of ClC-1 mutations from patients affected by recessive myotonia congenita presenting with different clinical phenotypes.
2013-01-01 Desaphy, Jean Francois; Gramegna, G; Altamura, C; Dinardo, Mm; Imbrici, Paola; George Jr, Al; Modoni, A; Lo Monaco, M; Conte, Diana
Natural ClC-1 mutations causing myotonia congenita reduce sensitivity to 9-AC
2015-01-01 Imbrici, Paola; Altamura, C.; Toscano, A.; Mantegazza, R.; Desaphy, Jean Francois; Conte Camerino, D.
Clinical, Molecular, and Functional Characterization of CLCN1 Mutations in Three Families with Recessive Myotonia Congenita
2015-01-01 Portaro, Simona; Altamura, Concetta; Licata, Norma; Camerino, GIULIA MARIA; Imbrici, Paola; Musumeci, Olimpia; Rodolico, Carmelo; Conte, Diana; Toscano, Antonio; Desaphy, Jean Francois
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
Ion channels gene expression analysis in myotonia congenita patients carrying ClC-1 chloride channel mutations
2015-01-01 Altamura, C.; Camerino, GIULIA MARIA; Imbrici, Paola; Portaro, S.; Musumeci, O.; Toscano, A.; Desaphy, Jean Francois; Conte Camerino, D.
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
Multidisciplinary study of a new ClC-1 mutation causing myotonia congenita: a paradigm to understand and treat ion channelopathies
2016-01-01 Imbrici, Paola; Altamura, Concetta; Camerino, GIULIA MARIA; Mangiatordi, Giuseppe Felice; Conte, Elena; Maggi, Lorenzo; Brugnoni, Raffaella; Musaraj, Kejla; Caloiero, Roberta; Alberga, Domenico; Marsano, RENE' MASSIMILIANO; Ricci, Giulia; Siciliano, Gabriele; Nicolotti, Orazio; Mora, Marina; Bernasconi, Pia; Desaphy, Jean Francois; Mantegazza, Renato; Conte, Diana
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
Coexistence of CLCN1 and SCN4A mutations in one family suffering from myotonia
2017-01-01 Maggi, Lorenzo; Ravaglia, Sabrina; Farinato, Alessandro; Brugnoni, Raffaella; Altamura, Concetta; Imbrici, Paola; Conte, Diana; Padovani, Alessandro; Mantegazza, Renato; Bernasconi, Pia; Desaphy, Jean-François; Filosto, Massimiliano
Mapping ligand binding pockets in ClC-1 channels through an integrated in silico and experimental approach using anthracene-9-carboxylic acid and niflumic acid
2018-01-01 Altamura, C; Mangiatordi, G F; Nicolotti, O; Sahbani, D; Farinato, A; Leonetti, F; Carratù, M; Conte, D; Desaphy, J; Imbrici, P
The analysis of myotonia congenita mutations discloses functional clusters of amino acids within CBS2 domain and C-terminal peptide of ClC-1 channel
2018-01-01 Altamura, Concetta; Lucchiari, Sabrina; Sahbani, Dalila; Ulzi, Gianna; Comi, Giacomo P; D'Ambrosio, Paola; Petillo, Roberta; Politano, Luisa; Vercelli, Liliana; Mongini, Tiziana; Dotti, Maria Teresa; Cardani, Rosanna; Meola, Giovanni; Lo Monaco, Mauro; Matthews, Emma; Hanna, Michael G; Carratù, Maria Rosaria; Conte, Diana; Imbrici, Paola; Desaphy, Jean-François
Effects of Benzothiazolamines on Voltage-Gated Sodium Channels
2018-01-01 Farinato, Alessandro; Altamura, Concetta; Desaphy, Jean-François
Pharmacogenetics of myotonic hNav1.4 sodium channel variants situated near the fast inactivation gate
2019-01-01 Farinato, Alessandro; Altamura, Concetta; Imbrici, Paola; Maggi, Lorenzo; Bernasconi, Pia; Mantegazza, Renato; Pasquali, Livia; Siciliano, Gabriele; Lo Monaco, Mauro; Vial, Christophe; Sternberg, Damien; Carratù, Maria Rosaria; Conte, Diana; Desaphy, Jean-François
Privileged scaffold-based design to identify a novel drug-like 5-HT7 receptor-preferring agonist to target Fragile X syndrome
2020-01-01 Lacivita, E.; Niso, M.; Stama, M. L.; Arzuaga, A.; Altamura, C.; Costa, L.; Desaphy, Jf.; Ragozzino, M. E.; Ciranna, L.; Leopoldo, M.
Safinamide's potential in treating nondystrophic myotonias: Inhibition of skeletal muscle voltage-gated sodium channels and skeletal muscle hyperexcitability in vitro and in vivo
2020-01-01 Desaphy, Jean-François; Farinato, Alessandro; Altamura, Concetta; DE BELLIS, Michela; Imbrici, Paola; Tarantino, Nancy; Caccia, Carla; Melloni, Elsa; Padoani, Gloria; Vailati, Silvia; Keywood, Charlotte; Carratu', Maria Rosaria; DE LUCA, Annamaria; Conte, Diana; Pierno, Sabata
Skeletal muscle ClC-1 chloride channels in health and diseases
2020-01-01 Altamura, Concetta; Desaphy, Jean-Francois; Conte, Diana; De Luca, Annamaria; Imbrici, Paola
Pathomechanisms of a CLCN1 Mutation Found in a Russian Family Suffering From Becker's Myotonia
2020-01-01 Altamura, C.; Ivanova, E. A.; Imbrici, P.; Conte, E.; Camerino, G. M.; Dadali, E. L.; Polyakov, A. V.; Kurbatov, S. A.; Girolamo, F.; Carratu, M. R.; Desaphy, J. -F.
Ion Channel Gene Mutations Causing Skeletal Muscle Disorders: Pathomechanisms and Opportunities for Therapy
2021-01-01 Maggi, Lorenzo; Bonanno, Silvia; Altamura, Concetta; Desaphy, Jean Francois
Musculoskeletal Features without Ataxia Associated with a Novel de novo Mutation in KCNA1 Impairing the Voltage Sensitivity of Kv1.1 Channel
2021-01-01 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
Synthesis and Evaluation of Voltage-Gated Sodium Channel Blocking Pyrroline Derivatives Endowed with Both Antiarrhythmic and Antioxidant Activities
2021-01-01 Carocci, Alessia; Roselli, Mariagrazia; Budriesi, Roberta; Micucci, Matteo; Desaphy, Jean-François; Altamura, Concetta; Cavalluzzi, Maria Maddalena; Toma, Maddalena; Passeri, Giovanna Ilaria; Milani, Gualtiero; Lovece, Angelo; Catalano, Alessia; Bruno, Claudio; De Palma, Annalisa; Corbo, Filomena; Franchini, Carlo; Habtemariam, Solomon; Lentini, Giovanni
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Functional characterization of ClC-1 mutations from patients affected by recessive myotonia congenita presenting with different clinical phenotypes. | 1-gen-2013 | Desaphy, Jean Francois; Gramegna, G; Altamura, C; Dinardo, Mm; Imbrici, Paola; George Jr, Al; Modoni, A; Lo Monaco, M; Conte, Diana | |
| Natural ClC-1 mutations causing myotonia congenita reduce sensitivity to 9-AC | 1-gen-2015 | Imbrici, Paola; Altamura, C.; Toscano, A.; Mantegazza, R.; Desaphy, Jean Francois; Conte Camerino, D. | |
| Clinical, Molecular, and Functional Characterization of CLCN1 Mutations in Three Families with Recessive Myotonia Congenita | 1-gen-2015 | Portaro, Simona; Altamura, Concetta; Licata, Norma; Camerino, GIULIA MARIA; Imbrici, Paola; Musumeci, Olimpia; Rodolico, Carmelo; Conte, Diana; Toscano, Antonio; Desaphy, Jean Francois | |
| 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 | |
| Ion channels gene expression analysis in myotonia congenita patients carrying ClC-1 chloride channel mutations | 1-gen-2015 | Altamura, C.; Camerino, GIULIA MARIA; Imbrici, Paola; Portaro, S.; Musumeci, O.; Toscano, A.; Desaphy, Jean Francois; Conte Camerino, D. | |
| 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 | |
| Multidisciplinary study of a new ClC-1 mutation causing myotonia congenita: a paradigm to understand and treat ion channelopathies | 1-gen-2016 | Imbrici, Paola; Altamura, Concetta; Camerino, GIULIA MARIA; Mangiatordi, Giuseppe Felice; Conte, Elena; Maggi, Lorenzo; Brugnoni, Raffaella; Musaraj, Kejla; Caloiero, Roberta; Alberga, Domenico; Marsano, RENE' MASSIMILIANO; Ricci, Giulia; Siciliano, Gabriele; Nicolotti, Orazio; Mora, Marina; Bernasconi, Pia; Desaphy, Jean Francois; Mantegazza, Renato; Conte, Diana | |
| 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 | |
| Coexistence of CLCN1 and SCN4A mutations in one family suffering from myotonia | 1-gen-2017 | Maggi, Lorenzo; Ravaglia, Sabrina; Farinato, Alessandro; Brugnoni, Raffaella; Altamura, Concetta; Imbrici, Paola; Conte, Diana; Padovani, Alessandro; Mantegazza, Renato; Bernasconi, Pia; Desaphy, Jean-François; Filosto, Massimiliano | |
| Mapping ligand binding pockets in ClC-1 channels through an integrated in silico and experimental approach using anthracene-9-carboxylic acid and niflumic acid | 1-gen-2018 | Altamura, C; Mangiatordi, G F; Nicolotti, O; Sahbani, D; Farinato, A; Leonetti, F; Carratù, M; Conte, D; Desaphy, J; Imbrici, P | |
| The analysis of myotonia congenita mutations discloses functional clusters of amino acids within CBS2 domain and C-terminal peptide of ClC-1 channel | 1-gen-2018 | Altamura, Concetta; Lucchiari, Sabrina; Sahbani, Dalila; Ulzi, Gianna; Comi, Giacomo P; D'Ambrosio, Paola; Petillo, Roberta; Politano, Luisa; Vercelli, Liliana; Mongini, Tiziana; Dotti, Maria Teresa; Cardani, Rosanna; Meola, Giovanni; Lo Monaco, Mauro; Matthews, Emma; Hanna, Michael G; Carratù, Maria Rosaria; Conte, Diana; Imbrici, Paola; Desaphy, Jean-François | |
| Effects of Benzothiazolamines on Voltage-Gated Sodium Channels | 1-gen-2018 | Farinato, Alessandro; Altamura, Concetta; Desaphy, Jean-François | |
| Pharmacogenetics of myotonic hNav1.4 sodium channel variants situated near the fast inactivation gate | 1-gen-2019 | Farinato, Alessandro; Altamura, Concetta; Imbrici, Paola; Maggi, Lorenzo; Bernasconi, Pia; Mantegazza, Renato; Pasquali, Livia; Siciliano, Gabriele; Lo Monaco, Mauro; Vial, Christophe; Sternberg, Damien; Carratù, Maria Rosaria; Conte, Diana; Desaphy, Jean-François | |
| Privileged scaffold-based design to identify a novel drug-like 5-HT7 receptor-preferring agonist to target Fragile X syndrome | 1-gen-2020 | Lacivita, E.; Niso, M.; Stama, M. L.; Arzuaga, A.; Altamura, C.; Costa, L.; Desaphy, Jf.; Ragozzino, M. E.; Ciranna, L.; Leopoldo, M. | |
| Safinamide's potential in treating nondystrophic myotonias: Inhibition of skeletal muscle voltage-gated sodium channels and skeletal muscle hyperexcitability in vitro and in vivo | 1-gen-2020 | Desaphy, Jean-François; Farinato, Alessandro; Altamura, Concetta; DE BELLIS, Michela; Imbrici, Paola; Tarantino, Nancy; Caccia, Carla; Melloni, Elsa; Padoani, Gloria; Vailati, Silvia; Keywood, Charlotte; Carratu', Maria Rosaria; DE LUCA, Annamaria; Conte, Diana; Pierno, Sabata | |
| Skeletal muscle ClC-1 chloride channels in health and diseases | 1-gen-2020 | Altamura, Concetta; Desaphy, Jean-Francois; Conte, Diana; De Luca, Annamaria; Imbrici, Paola | |
| Pathomechanisms of a CLCN1 Mutation Found in a Russian Family Suffering From Becker's Myotonia | 1-gen-2020 | Altamura, C.; Ivanova, E. A.; Imbrici, P.; Conte, E.; Camerino, G. M.; Dadali, E. L.; Polyakov, A. V.; Kurbatov, S. A.; Girolamo, F.; Carratu, M. R.; Desaphy, J. -F. | |
| Ion Channel Gene Mutations Causing Skeletal Muscle Disorders: Pathomechanisms and Opportunities for Therapy | 1-gen-2021 | Maggi, Lorenzo; Bonanno, Silvia; Altamura, Concetta; Desaphy, Jean Francois | |
| Musculoskeletal Features without Ataxia Associated with a Novel de novo Mutation in KCNA1 Impairing the Voltage Sensitivity of Kv1.1 Channel | 1-gen-2021 | 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 | |
| Synthesis and Evaluation of Voltage-Gated Sodium Channel Blocking Pyrroline Derivatives Endowed with Both Antiarrhythmic and Antioxidant Activities | 1-gen-2021 | Carocci, Alessia; Roselli, Mariagrazia; Budriesi, Roberta; Micucci, Matteo; Desaphy, Jean-François; Altamura, Concetta; Cavalluzzi, Maria Maddalena; Toma, Maddalena; Passeri, Giovanna Ilaria; Milani, Gualtiero; Lovece, Angelo; Catalano, Alessia; Bruno, Claudio; De Palma, Annalisa; Corbo, Filomena; Franchini, Carlo; Habtemariam, Solomon; Lentini, Giovanni |
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