DESAPHY, Jean Francois
DESAPHY, Jean Francois
DIPARTIMENTO DI MEDICINA DI PRECISIONE E RIGENERATIVA E AREA JONICA DiMePRe-J
18. Desaphy J.-F., De Luca A., George A.L. Jr. and D. Conte Camerino. Improved block of human skeletal muscle Na+ channel mutants by a new mexiletine derivative
2001-01-01 Desaphy, Jean Francois; De Luca, A.; George, A. L. J. r.; Conte Camerino, D.
A c.1775C > T Point Mutation of Sodium Channel Alfa Subunit Gene (SCN4A) in a Three-Generation Sardinian Family with Sodium Channel Myotonia
2024-01-01 Campanale, Carmen; Laghetti, Paola; Saltarella, Ilaria; Altamura, Concetta; Canioni, Eleonora; Iosa, Emanuele; Maggi, Lorenzo; Brugnoni, Raffaella; Tacconi, Paolo; Desaphy, Jean-Francois
A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: Building a Treatabolome
2020-01-01 Atalaia, A.; Thompson, R.; Corvo, A.; Carmody, L.; Piscia, D.; Matalonga, L.; Macaya, A.; Lochmuller, A.; Fontaine, B.; Zurek, B.; Hernandez-Ferrer, C.; Rheinard, C.; Gomez-Andres, D.; Desaphy, Jf.; Schon, K.; Lohmann, K.; Jennings, M. J.; Synofzik, M.; Riess, O.; Yaou, R. B.; Evangelista, T.; Ratnaike, T.; Bros-Facer, V.; Gumus, G.; Horvath, R.; Chinnery, P.; Laurie, S.; Graessner, H.; Robinson, P.; Lochmuller, H.; Beltran, S.; Bonne, G.
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 new benzylated proline-like tocainide derivative is a potent use-dependent skeletal muscle Na+ channel blocker with a potential anti-myotonic activity
2001-01-01 Talon, S.; DE LUCA, Annamaria; DE BELLIS, Michela; Desaphy, Jean Francois; Lentini, Giovanni; Scilimati, Antonio; Corbo, F.; Franchini, Carlo; Tortorella, V.; Conte Camerino, D.
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
Actin-sliding velocity on pure myosin isoforms from hindlimb unloading mice
2014-01-01 Maffei, M.; Longa, E.; Qaisar, R.; Agoni, V.; Desaphy, Jean Francois; Conte, Diana; Bottinelli, R.; Canepari, M.
Adaptation of mouse skeletal muscle to long-term microgravity in the MDS mission
2012-01-01 Sandonà, D; Desaphy, Jean Francois; Camerino, GIULIA MARIA; Bianchini, E; Ciciliot, S; Danieli Betto, D; Dobrowolny, G; Furlan, S; Germinario, E; Goto, K; Gutsmann, M; Kawano, F; Nakai, N; Ohira, T; Ohno, Y; Picard, A; Salanova, M; Schiffl, G; Blottner, D; Musarò, A; Ohira, Y; Betto, R; Conte, Diana; Schiaffino, S.
Age-dependent effects of disuse on electrophysiogical parameters and calcium homeostasis in the soleus muscle of hindlimb-unloaded mice
2007-01-01 Desaphy, Jean Francois; Pierno, S; Liantonio, Antonella; Brocca, L; Giannuzzi, V; Cippone, V; Giotta, C; Bottinelli, R; Conte, Diana
An olive oil-derived antioxidant mixture ameliorates the age-related decline of skeletal muscle function
2014-01-01 Pierno, Sabata; Tricarico, Domenico; Liantonio, Antonella; Mele, Antonietta; Digennaro, C; Rolland, J. F; Bianco, G; Villanova, L; Merendino, A; Camerino, GIULIA MARIA; DE LUCA, Annamaria; Desaphy, Jean Francois; Conte, Diana
An olive oil–derived antioxidant mixture ameliorates the age-related decline of skeletal muscle function
2014-01-01 Pierno, Sabata; Tricarico, D; Liantonio, Antonella; Mele, Antonietta; Digennaro, C; Rolland, Jf; Bianco, G; Villanova, L; Merendino, A; Camerino, Gm; DE LUCA, Annamaria; Desaphy, Jean Francois; Conte, Diana
Analysis by two-dimensional Blue Native/SDS-PAGE of membrane protein alterations in rat soleus muscle after hindlimb unloading
2010-01-01 Basco, D; Nicchia, GRAZIA PAOLA; Desaphy, Jean Francois; Conte, Diana; Frigeri, Antonio; Svelto, Maria
Anti-Angiogenic Activity of Drugs in Multiple Myeloma
2023-01-01 Saltarella, Ilaria; Altamura, Concetta; Campanale, Carmen; Laghetti, Paola; Vacca, Angelo; Frassanito, Maria Antonia; Desaphy, Jean-François
Antioxidant treatment of hindlimb-unloaded mouse counteracts fiber type transition but not atrophy of disused muscles
2010-01-01 Desaphy, Jean Francois; Pierno, Sabata; Liantonio, Antonella; Giannuzzi, V; Digennaro, C; Dinardo, M. M.; Camerino, GIULIA MARIA; Ricciuti, P; Brocca, L; Pellegrino, M. A.; Bottinelli, R; Conte, Diana
Antioxidant treatment of hindlimb-unloaded mouse in vivo counteracts fiber type transition but not atrophy of disused skeletal muscles
2009-01-01 Desaphy, Jean Francois; Pierno, S.; Liantonio, Antonella; Giannuzzi, V.; Digennaro, C.; Dinardo, M. M.; Camerino, GIULIA MARIA; Ricciuti, P.; Brocca, L.; Pellegrino, M. A.; Bottinelli, R.; Conte, Diana
Aromatic substituents on mexiletine chiral atom increase antimyotonic effect in vitro and in vivo
1999-01-01 DE LUCA, Annamaria; Desaphy, Jean Francois; Pierno, S.; Natuzzi, F.; Liantonio, A.; Franchini, C.; Tortorella, V.; Jockusch, H.; Conte Camerino, D.
Autonomic nervous response following rat hindlimb unloading: Investigation on some peripheral districts
2004-01-01 Piepoli, A. L.; De Salvatore, G.; Desaphy, Jean Francois; Natale, L.; DE SALVIA, Maria Antonietta; Mitolo, C. I.; Renna, G.; Conte Camerino, D.; Mitolo Chieppa, D.
Bioisosteric Modification of To042: Synthesis and Evaluation of Promising Use-Dependent Inhibitors of Voltage-Gated Sodium Channels
2021-01-01 Milani, G.; Cavalluzzi, M. M.; Altamura, C.; Santoro, A.; Perrone, M.; Muraglia, M.; Colabufo, N. A.; Corbo, F.; Casalino, E.; Franchini, C.; Pisano, I.; Desaphy, Jf; Carrieri, A.; Carocci, A.; Lentini, G.
Biophysical characterization of hClC-1 chloride channel mutations associated with myotonia congenita
2012-01-01 Desaphy, Jean Francois; Gramegna, G.; Dinardo, M. M.; Modoni, A.; Lomonaco, M.; Conte Camerino, D.
Blockade by cAMP of native sodium channels of adult rat skeletal muscle fibers
1998-01-01 Desaphy, Jean Francois; DE LUCA, Annamaria; Conte, Diana
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| 18. Desaphy J.-F., De Luca A., George A.L. Jr. and D. Conte Camerino. Improved block of human skeletal muscle Na+ channel mutants by a new mexiletine derivative | 1-gen-2001 | Desaphy, Jean Francois; De Luca, A.; George, A. L. J. r.; Conte Camerino, D. | |
| A c.1775C > T Point Mutation of Sodium Channel Alfa Subunit Gene (SCN4A) in a Three-Generation Sardinian Family with Sodium Channel Myotonia | 1-gen-2024 | Campanale, Carmen; Laghetti, Paola; Saltarella, Ilaria; Altamura, Concetta; Canioni, Eleonora; Iosa, Emanuele; Maggi, Lorenzo; Brugnoni, Raffaella; Tacconi, Paolo; Desaphy, Jean-Francois | |
| A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: Building a Treatabolome | 1-gen-2020 | Atalaia, A.; Thompson, R.; Corvo, A.; Carmody, L.; Piscia, D.; Matalonga, L.; Macaya, A.; Lochmuller, A.; Fontaine, B.; Zurek, B.; Hernandez-Ferrer, C.; Rheinard, C.; Gomez-Andres, D.; Desaphy, Jf.; Schon, K.; Lohmann, K.; Jennings, M. J.; Synofzik, M.; Riess, O.; Yaou, R. B.; Evangelista, T.; Ratnaike, T.; Bros-Facer, V.; Gumus, G.; Horvath, R.; Chinnery, P.; Laurie, S.; Graessner, H.; Robinson, P.; Lochmuller, H.; Beltran, S.; Bonne, G. | |
| 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 new benzylated proline-like tocainide derivative is a potent use-dependent skeletal muscle Na+ channel blocker with a potential anti-myotonic activity | 1-gen-2001 | Talon, S.; DE LUCA, Annamaria; DE BELLIS, Michela; Desaphy, Jean Francois; Lentini, Giovanni; Scilimati, Antonio; Corbo, F.; Franchini, Carlo; Tortorella, V.; Conte Camerino, D. | |
| 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 | |
| Actin-sliding velocity on pure myosin isoforms from hindlimb unloading mice | 1-gen-2014 | Maffei, M.; Longa, E.; Qaisar, R.; Agoni, V.; Desaphy, Jean Francois; Conte, Diana; Bottinelli, R.; Canepari, M. | |
| Adaptation of mouse skeletal muscle to long-term microgravity in the MDS mission | 1-gen-2012 | Sandonà, D; Desaphy, Jean Francois; Camerino, GIULIA MARIA; Bianchini, E; Ciciliot, S; Danieli Betto, D; Dobrowolny, G; Furlan, S; Germinario, E; Goto, K; Gutsmann, M; Kawano, F; Nakai, N; Ohira, T; Ohno, Y; Picard, A; Salanova, M; Schiffl, G; Blottner, D; Musarò, A; Ohira, Y; Betto, R; Conte, Diana; Schiaffino, S. | |
| Age-dependent effects of disuse on electrophysiogical parameters and calcium homeostasis in the soleus muscle of hindlimb-unloaded mice | 1-gen-2007 | Desaphy, Jean Francois; Pierno, S; Liantonio, Antonella; Brocca, L; Giannuzzi, V; Cippone, V; Giotta, C; Bottinelli, R; Conte, Diana | |
| An olive oil-derived antioxidant mixture ameliorates the age-related decline of skeletal muscle function | 1-gen-2014 | Pierno, Sabata; Tricarico, Domenico; Liantonio, Antonella; Mele, Antonietta; Digennaro, C; Rolland, J. F; Bianco, G; Villanova, L; Merendino, A; Camerino, GIULIA MARIA; DE LUCA, Annamaria; Desaphy, Jean Francois; Conte, Diana | |
| An olive oil–derived antioxidant mixture ameliorates the age-related decline of skeletal muscle function | 1-gen-2014 | Pierno, Sabata; Tricarico, D; Liantonio, Antonella; Mele, Antonietta; Digennaro, C; Rolland, Jf; Bianco, G; Villanova, L; Merendino, A; Camerino, Gm; DE LUCA, Annamaria; Desaphy, Jean Francois; Conte, Diana | |
| Analysis by two-dimensional Blue Native/SDS-PAGE of membrane protein alterations in rat soleus muscle after hindlimb unloading | 1-gen-2010 | Basco, D; Nicchia, GRAZIA PAOLA; Desaphy, Jean Francois; Conte, Diana; Frigeri, Antonio; Svelto, Maria | |
| Anti-Angiogenic Activity of Drugs in Multiple Myeloma | 1-gen-2023 | Saltarella, Ilaria; Altamura, Concetta; Campanale, Carmen; Laghetti, Paola; Vacca, Angelo; Frassanito, Maria Antonia; Desaphy, Jean-François | |
| Antioxidant treatment of hindlimb-unloaded mouse counteracts fiber type transition but not atrophy of disused muscles | 1-gen-2010 | Desaphy, Jean Francois; Pierno, Sabata; Liantonio, Antonella; Giannuzzi, V; Digennaro, C; Dinardo, M. M.; Camerino, GIULIA MARIA; Ricciuti, P; Brocca, L; Pellegrino, M. A.; Bottinelli, R; Conte, Diana | |
| Antioxidant treatment of hindlimb-unloaded mouse in vivo counteracts fiber type transition but not atrophy of disused skeletal muscles | 1-gen-2009 | Desaphy, Jean Francois; Pierno, S.; Liantonio, Antonella; Giannuzzi, V.; Digennaro, C.; Dinardo, M. M.; Camerino, GIULIA MARIA; Ricciuti, P.; Brocca, L.; Pellegrino, M. A.; Bottinelli, R.; Conte, Diana | |
| Aromatic substituents on mexiletine chiral atom increase antimyotonic effect in vitro and in vivo | 1-gen-1999 | DE LUCA, Annamaria; Desaphy, Jean Francois; Pierno, S.; Natuzzi, F.; Liantonio, A.; Franchini, C.; Tortorella, V.; Jockusch, H.; Conte Camerino, D. | |
| Autonomic nervous response following rat hindlimb unloading: Investigation on some peripheral districts | 1-gen-2004 | Piepoli, A. L.; De Salvatore, G.; Desaphy, Jean Francois; Natale, L.; DE SALVIA, Maria Antonietta; Mitolo, C. I.; Renna, G.; Conte Camerino, D.; Mitolo Chieppa, D. | |
| Bioisosteric Modification of To042: Synthesis and Evaluation of Promising Use-Dependent Inhibitors of Voltage-Gated Sodium Channels | 1-gen-2021 | Milani, G.; Cavalluzzi, M. M.; Altamura, C.; Santoro, A.; Perrone, M.; Muraglia, M.; Colabufo, N. A.; Corbo, F.; Casalino, E.; Franchini, C.; Pisano, I.; Desaphy, Jf; Carrieri, A.; Carocci, A.; Lentini, G. | |
| Biophysical characterization of hClC-1 chloride channel mutations associated with myotonia congenita | 1-gen-2012 | Desaphy, Jean Francois; Gramegna, G.; Dinardo, M. M.; Modoni, A.; Lomonaco, M.; Conte Camerino, D. | |
| Blockade by cAMP of native sodium channels of adult rat skeletal muscle fibers | 1-gen-1998 | Desaphy, Jean Francois; DE LUCA, Annamaria; Conte, Diana |