Loss of function MPZ mutation causes milder CMT1B neuropathy
2021-01-01 Howard, P; Feely, Sme; Grider, T; Bacha, A; Scarlato, M; Fazio, R; Quattrini, A; Shy, Me; Previtali, S
Merosin deficient congenital muscular dystrophy type 1A: An international workshop on the road to therapy 15-17 November 2019, Maastricht, the Netherlands
2021-01-01 Smeets, Hjm; Verbrugge, B; Springuel, P; Voermans, Nc; MDC1A Workshop Group: Giulio, Cossu; René de, Coo; Christos, Diamantidis; Eric, Dragendorf; Madeleine, Durbeej-Hjalt; Gustavo, Dziewczapolski; Corrie, Erasmus; Reghan, Foley; Sweta, Girgenrath; Leonardo Zingler, Herrero; Dwi, Kemaladewi; Andrea, Klein; Marie-Julie, Lemmens; Lotte van de, Loo; Previtali, S; Markus, Ruegg; Adnan Abdulaziz, Said; Maurilio, Sampaolesi; Anna, Sarkozy; Hemant, Sawnani; Dirk Jan, Stelwagen; Heleen, Stelwagen; Haluk, Topaloglu; Florence van, Tienen; Peter, Yurchenco; Teun van, Zutphen
Editorial: Current Insights Into LAMA2 Disease.
2021-01-01 Previtali, S; Cohn, Rd; Ruegg, Ma.
Transcatheter aortic valve replacement with the self-expanding ACURATE Neo2 in patients with horizontal aorta: Insights from the ITAL-neo registry
2023-01-01 Barki, M.; Ielasi, A.; Buono, A.; Maffeo, D.; Montonati, C.; Pellegrini, D.; Pellicano, M.; Gorla, R.; Costa, G.; Cozzi, O.; Ancona, M.; Soriano, F.; De Carlo, M.; Ferrara, E.; Giannini, F.; Massussi, M.; Fovino, L. N.; Messina, A.; Sgroi, C.; Gallo, F.; Nerla, R.; Saccocci, M.; D'Ascenzo, F.; Conrotto, F.; Bettari, L.; Fiorina, C.; Castriota, F.; Poli, A.; Petronio, A. S.; Oreglia, J.; Montorfano, M.; Regazzoli, D.; Reimers, B.; Barbanti, M.; Tamburino, C.; Bedogni, F.; Tarantini, G.; Tespili, M.
Lipo-Xenopeptide Polyplexes for CRISPR/Cas9 based Gene editing at ultra-low dose
2024-01-01 Germer, Janin; Lessl, Anna-Lina; Pöhmerer, Jana; Grau, Melina; Weidinger, Eric; Höhn, Miriam; Yazdi, Mina; Cappelluti, Martino Alfredo; Lombardo, Angelo; Lächelt, Ulrich; Wagner, Ernst
Durable and efficient gene silencing in vivo by hit-and-run epigenome editing
2024-01-01 Cappelluti, M. A.; Mollica Poeta, V.; Valsoni, S.; Quarato, P.; Merlin, S.; Merelli, I.; Lombardo, A.
Phenotypic Variability Among Patients With D4Z4 Reduced Allele Facioscapulohumeral Muscular Dystrophy
2020-01-01 Ruggiero, L; Mele, F; Manganelli, F; Bruzzese, D; Ricci, G; Vercelli, L; Govi, M; Vallarola, A; Tripodi, S; Villa, L; Di Muzio, A; Scarlato, M; Bucci, E; Antonini, G; Maggi, L; Rodolico, C; Tomelleri, G; Filosto, M; Previtali, S; Angelini, C; Berardinelli, A; Pegoraro, E; Moggio, M; Mongini, T; Siciliano, G; Santoro, L; Tupler, R.
Suitability of external controls for drug evaluation in Duchenne muscular dystrophy
2020-01-01 Nathalie, Goemans; James, Signorovitch; Gautam, Sajeev; Zhiwen, Yao; Heather, Gordish-Dressman; Craig M., Mcdonald; Krista, Vandenborne; Debra, Miller; Susan J., Ward; Eugenio, Mercuri; Previtali, Stefano Carlo
Sodium Channel Myotonia Due to Novel Mutations in Domain I of Nav1.4
2020-01-01 Pagliarani, S; Lucchiari, S; Scarlato, M; Redaelli, E; Modoni, A; Magri, F; Fossati, B; Previtali, S; Sansone, Va; Lecchi, M; Lo Monaco, M; Meola, G; Comi, Gp.
Legami e persone in Edith Stein
2024-01-01 Costa, Vincenzo
Labelling and Categorization: evidence from Experimental Studies on Infants.
2024-01-01 Floris, Mara
Sostenere il percorso in una patologia complessa: il ruolo dello psicologo nella gestione multidisciplinare della malattia del rene policistico (Supporting complexity: the psychologist’s role in multidisciplinary management of polycystic kidney disease).
2024-01-01 Farinone, Sara; Catania, Martina; De Rosa, Liliana Italia; Kola, Kristiana; Petrone, Micaela; Brambilla Pisoni, Matteo; Gigliotti, Andrea; Bianca, Pierpaolo; Maiucchi, Paola; Citterio, Lorena; Carrera, Paola; Mancassola, Giulia; Perego, Gaia; Milano, Francesca; Di Mattei, Valentina Elisabetta; Manunta, Paolo; Vezzoli, Giuseppe; Teresa Sciarrone Alibrandi, Maria
Prostaglandin D2 synthase modulates macrophage activity and accumulation in injured peripheral nerves
2020-01-01 Forese, Mg; Pellegatta, M; Canevazzi, P; Gullotta, Gs; Podini, P; Rivellini, C; Previtali, S; Bacigaluppi, M; Quattrini, A; Taveggia, C
LAMA2 Neuropathies: Human Findings and Pathomechanisms From Mouse Models
2020-01-01 Previtali, S; Zambon, Aa
Nusinersen safety and effects on motor function in adult spinal muscular atrophy type 2 and 3
2020-01-01 Maggi, L; Bello, L; Bonanno, S; Govoni, A; Caponnetto, C; Passamano, L; Grandis, M; Trojsi, F; Cerri, F; Ferraro, M; Bozzoni, V; Caumo, L; Piras, R; Tanel, R; Saccani, E; Meneri, M; Vacchiano, V; Ricci, G; Soraru', G; D'Errico, E; Tramacere, I; Bortolani, S; Pavesi, G; Zanin, R; Silvestrini, M; Politano, L; Schenone, A; Previtali, S; Berardinelli, A; Turri, M; Verriello, L; Coccia, M; Mantegazza, R; Liguori, R; Filosto, M; Marrosu, G; Siciliano, G; Simone, Il; Mongini, T; Comi, G; Pegoraro, E.
Pregnancy in Charcot-Marie-Tooth disease: Data from the Italian CMT national registry
2020-01-01 Pisciotta, C; Calabrese, D; Santoro, L; Tramacere, I; Manganelli, F; Fabrizi, Gm; Schenone, A; Cavallaro, T; Grandis, M; Previtali, S; Allegri, I; Padua, L; Pazzaglia, C; Saveri, P; Quattrone, A; Valentino, P; Tozza, S; Gentile, L; Russo, M; Mazzeo, A; Trapasso, Mc; Parazzini, F; Vita, G; Pareyson, D; Italian Cmt, Network
Estimating the impact of COVID-19 pandemic on services provided by Italian Neuromuscular Centers: an Italian Association of Myology survey of the acute phase
2020-01-01 Mauri, E; Abati, E; Musumeci, O; Rodolico, C; D'Angelo, Mg; Mirabella, M; Lucchini, M; Bello, L; Pegoraro, E; Maggi, L; Manneschi, L; Gemelli, C; Grandis, M; Zuppa, A; Massucco, S; Benedetti, L; Caponnetto, C; Schenone, A; Prelle, A; Previtali, S; Scarlato, M; D'Amico, A; Bertini, E; Pennisi, Em; De Giglio, L; Pane, M; Mercuri, E; Mongini, T; Ricci, F; Berardinelli, A; Astrea, G; Lenzi, S; Battini, R; Ricci, G; Torri, F; Siciliano, G; Santorelli, Fm; Ariatti, A; Filosto, M; Passamano, L; Politano, L; Scutifero, M; Tonin, P; Fossati, B; Panicucci, C; Bruno, C; Ravaglia, S; Monforte, M; Tasca, G; Ricci, E; Petrucci, A; Santoro, L; Ruggiero, L; Barp, A; Albamonte, E; Sansone, V; Gagliardi, D; Costamagna, G; Govoni, A; Magri, F; Brusa, R; Velardo, D; Meneri, M; Sciacco, M; Corti, S; Bresolin, N; Moroni, I; Messina, S; Di Muzio, A; Nigro, V; Liguori, R; Antonini, G; Toscano, A; Minetti, C; Comi, Gp; Italian Association Of, Myology.
Associations between fatigue impact and physical and neurobehavioural factors: An exploration in people with progressive multiple sclerosis
2024-01-01 Connolly, L.; Chatfield, S.; Freeman, J.; Salter, A.; Amato, M. P.; Brichetto, G.; Chataway, J.; Chiaravalloti, N. D.; Cutter, G.; Deluca, J.; Dalgas, U.; Farrell, R.; Feys, P.; Filippi, M.; Inglese, M.; Meza, C.; Moore, N. B.; Motl, R. W.; Rocca, M. A.; Sandroff, B. M.; Feinstein, A.
Long-term Results of Clover and Edge-to-Edge Leaflet Repair for Complex Tricuspid Regurgitation
2024-01-01 Lapenna, Elisabetta; Gramegna, Federica; Del Forno, Benedetto; Scarale, Maria Giovanna; Nonis, Alessandro; Carino, Davide; Ancona, Francesco; Faggi, Alessandro; Schiavi, Davide; Alfieri, Ottavio; Maisano, Francesco; De Bonis, Michele
Development and validation of an electronic Symbol‐Digit Modalities Test for remote monitoring of people with multiple sclerosis
2024-01-01 Dini, Michelangelo; Gamberini, Giulia; Tacchini, Marta; Boschetti, Angela; Gradassi, Alessandro; Chiveri, Luca; Rodegher, Mariaemma; Comi, Giancarlo; Leocani, Annunziata Maria Letizia
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Loss of function MPZ mutation causes milder CMT1B neuropathy | 1-gen-2021 | Howard, P; Feely, Sme; Grider, T; Bacha, A; Scarlato, M; Fazio, R; Quattrini, A; Shy, Me; Previtali, S | |
| Merosin deficient congenital muscular dystrophy type 1A: An international workshop on the road to therapy 15-17 November 2019, Maastricht, the Netherlands | 1-gen-2021 | Smeets, Hjm; Verbrugge, B; Springuel, P; Voermans, Nc; MDC1A Workshop Group: Giulio, Cossu; René de, Coo; Christos, Diamantidis; Eric, Dragendorf; Madeleine, Durbeej-Hjalt; Gustavo, Dziewczapolski; Corrie, Erasmus; Reghan, Foley; Sweta, Girgenrath; Leonardo Zingler, Herrero; Dwi, Kemaladewi; Andrea, Klein; Marie-Julie, Lemmens; Lotte van de, Loo; Previtali, S; Markus, Ruegg; Adnan Abdulaziz, Said; Maurilio, Sampaolesi; Anna, Sarkozy; Hemant, Sawnani; Dirk Jan, Stelwagen; Heleen, Stelwagen; Haluk, Topaloglu; Florence van, Tienen; Peter, Yurchenco; Teun van, Zutphen | |
| Editorial: Current Insights Into LAMA2 Disease. | 1-gen-2021 | Previtali, S; Cohn, Rd; Ruegg, Ma. | |
| Transcatheter aortic valve replacement with the self-expanding ACURATE Neo2 in patients with horizontal aorta: Insights from the ITAL-neo registry | 1-gen-2023 | Barki, M.; Ielasi, A.; Buono, A.; Maffeo, D.; Montonati, C.; Pellegrini, D.; Pellicano, M.; Gorla, R.; Costa, G.; Cozzi, O.; Ancona, M.; Soriano, F.; De Carlo, M.; Ferrara, E.; Giannini, F.; Massussi, M.; Fovino, L. N.; Messina, A.; Sgroi, C.; Gallo, F.; Nerla, R.; Saccocci, M.; D'Ascenzo, F.; Conrotto, F.; Bettari, L.; Fiorina, C.; Castriota, F.; Poli, A.; Petronio, A. S.; Oreglia, J.; Montorfano, M.; Regazzoli, D.; Reimers, B.; Barbanti, M.; Tamburino, C.; Bedogni, F.; Tarantini, G.; Tespili, M. | |
| Lipo-Xenopeptide Polyplexes for CRISPR/Cas9 based Gene editing at ultra-low dose | 1-gen-2024 | Germer, Janin; Lessl, Anna-Lina; Pöhmerer, Jana; Grau, Melina; Weidinger, Eric; Höhn, Miriam; Yazdi, Mina; Cappelluti, Martino Alfredo; Lombardo, Angelo; Lächelt, Ulrich; Wagner, Ernst | |
| Durable and efficient gene silencing in vivo by hit-and-run epigenome editing | 1-gen-2024 | Cappelluti, M. A.; Mollica Poeta, V.; Valsoni, S.; Quarato, P.; Merlin, S.; Merelli, I.; Lombardo, A. | |
| Phenotypic Variability Among Patients With D4Z4 Reduced Allele Facioscapulohumeral Muscular Dystrophy | 1-gen-2020 | Ruggiero, L; Mele, F; Manganelli, F; Bruzzese, D; Ricci, G; Vercelli, L; Govi, M; Vallarola, A; Tripodi, S; Villa, L; Di Muzio, A; Scarlato, M; Bucci, E; Antonini, G; Maggi, L; Rodolico, C; Tomelleri, G; Filosto, M; Previtali, S; Angelini, C; Berardinelli, A; Pegoraro, E; Moggio, M; Mongini, T; Siciliano, G; Santoro, L; Tupler, R. | |
| Suitability of external controls for drug evaluation in Duchenne muscular dystrophy | 1-gen-2020 | Nathalie, Goemans; James, Signorovitch; Gautam, Sajeev; Zhiwen, Yao; Heather, Gordish-Dressman; Craig M., Mcdonald; Krista, Vandenborne; Debra, Miller; Susan J., Ward; Eugenio, Mercuri; Previtali, Stefano Carlo | |
| Sodium Channel Myotonia Due to Novel Mutations in Domain I of Nav1.4 | 1-gen-2020 | Pagliarani, S; Lucchiari, S; Scarlato, M; Redaelli, E; Modoni, A; Magri, F; Fossati, B; Previtali, S; Sansone, Va; Lecchi, M; Lo Monaco, M; Meola, G; Comi, Gp. | |
| Legami e persone in Edith Stein | 1-gen-2024 | Costa, Vincenzo | |
| Labelling and Categorization: evidence from Experimental Studies on Infants. | 1-gen-2024 | Floris, Mara | |
| Sostenere il percorso in una patologia complessa: il ruolo dello psicologo nella gestione multidisciplinare della malattia del rene policistico (Supporting complexity: the psychologist’s role in multidisciplinary management of polycystic kidney disease). | 1-gen-2024 | Farinone, Sara; Catania, Martina; De Rosa, Liliana Italia; Kola, Kristiana; Petrone, Micaela; Brambilla Pisoni, Matteo; Gigliotti, Andrea; Bianca, Pierpaolo; Maiucchi, Paola; Citterio, Lorena; Carrera, Paola; Mancassola, Giulia; Perego, Gaia; Milano, Francesca; Di Mattei, Valentina Elisabetta; Manunta, Paolo; Vezzoli, Giuseppe; Teresa Sciarrone Alibrandi, Maria | |
| Prostaglandin D2 synthase modulates macrophage activity and accumulation in injured peripheral nerves | 1-gen-2020 | Forese, Mg; Pellegatta, M; Canevazzi, P; Gullotta, Gs; Podini, P; Rivellini, C; Previtali, S; Bacigaluppi, M; Quattrini, A; Taveggia, C | |
| LAMA2 Neuropathies: Human Findings and Pathomechanisms From Mouse Models | 1-gen-2020 | Previtali, S; Zambon, Aa | |
| Nusinersen safety and effects on motor function in adult spinal muscular atrophy type 2 and 3 | 1-gen-2020 | Maggi, L; Bello, L; Bonanno, S; Govoni, A; Caponnetto, C; Passamano, L; Grandis, M; Trojsi, F; Cerri, F; Ferraro, M; Bozzoni, V; Caumo, L; Piras, R; Tanel, R; Saccani, E; Meneri, M; Vacchiano, V; Ricci, G; Soraru', G; D'Errico, E; Tramacere, I; Bortolani, S; Pavesi, G; Zanin, R; Silvestrini, M; Politano, L; Schenone, A; Previtali, S; Berardinelli, A; Turri, M; Verriello, L; Coccia, M; Mantegazza, R; Liguori, R; Filosto, M; Marrosu, G; Siciliano, G; Simone, Il; Mongini, T; Comi, G; Pegoraro, E. | |
| Pregnancy in Charcot-Marie-Tooth disease: Data from the Italian CMT national registry | 1-gen-2020 | Pisciotta, C; Calabrese, D; Santoro, L; Tramacere, I; Manganelli, F; Fabrizi, Gm; Schenone, A; Cavallaro, T; Grandis, M; Previtali, S; Allegri, I; Padua, L; Pazzaglia, C; Saveri, P; Quattrone, A; Valentino, P; Tozza, S; Gentile, L; Russo, M; Mazzeo, A; Trapasso, Mc; Parazzini, F; Vita, G; Pareyson, D; Italian Cmt, Network | |
| Estimating the impact of COVID-19 pandemic on services provided by Italian Neuromuscular Centers: an Italian Association of Myology survey of the acute phase | 1-gen-2020 | Mauri, E; Abati, E; Musumeci, O; Rodolico, C; D'Angelo, Mg; Mirabella, M; Lucchini, M; Bello, L; Pegoraro, E; Maggi, L; Manneschi, L; Gemelli, C; Grandis, M; Zuppa, A; Massucco, S; Benedetti, L; Caponnetto, C; Schenone, A; Prelle, A; Previtali, S; Scarlato, M; D'Amico, A; Bertini, E; Pennisi, Em; De Giglio, L; Pane, M; Mercuri, E; Mongini, T; Ricci, F; Berardinelli, A; Astrea, G; Lenzi, S; Battini, R; Ricci, G; Torri, F; Siciliano, G; Santorelli, Fm; Ariatti, A; Filosto, M; Passamano, L; Politano, L; Scutifero, M; Tonin, P; Fossati, B; Panicucci, C; Bruno, C; Ravaglia, S; Monforte, M; Tasca, G; Ricci, E; Petrucci, A; Santoro, L; Ruggiero, L; Barp, A; Albamonte, E; Sansone, V; Gagliardi, D; Costamagna, G; Govoni, A; Magri, F; Brusa, R; Velardo, D; Meneri, M; Sciacco, M; Corti, S; Bresolin, N; Moroni, I; Messina, S; Di Muzio, A; Nigro, V; Liguori, R; Antonini, G; Toscano, A; Minetti, C; Comi, Gp; Italian Association Of, Myology. | |
| Associations between fatigue impact and physical and neurobehavioural factors: An exploration in people with progressive multiple sclerosis | 1-gen-2024 | Connolly, L.; Chatfield, S.; Freeman, J.; Salter, A.; Amato, M. P.; Brichetto, G.; Chataway, J.; Chiaravalloti, N. D.; Cutter, G.; Deluca, J.; Dalgas, U.; Farrell, R.; Feys, P.; Filippi, M.; Inglese, M.; Meza, C.; Moore, N. B.; Motl, R. W.; Rocca, M. A.; Sandroff, B. M.; Feinstein, A. | |
| Long-term Results of Clover and Edge-to-Edge Leaflet Repair for Complex Tricuspid Regurgitation | 1-gen-2024 | Lapenna, Elisabetta; Gramegna, Federica; Del Forno, Benedetto; Scarale, Maria Giovanna; Nonis, Alessandro; Carino, Davide; Ancona, Francesco; Faggi, Alessandro; Schiavi, Davide; Alfieri, Ottavio; Maisano, Francesco; De Bonis, Michele | |
| Development and validation of an electronic Symbol‐Digit Modalities Test for remote monitoring of people with multiple sclerosis | 1-gen-2024 | Dini, Michelangelo; Gamberini, Giulia; Tacchini, Marta; Boschetti, Angela; Gradassi, Alessandro; Chiveri, Luca; Rodegher, Mariaemma; Comi, Giancarlo; Leocani, Annunziata Maria Letizia |
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