Zobrazeno 1 - 10
of 21
pro vyhledávání: '"Silvia de Pasqua"'
Autor:
Elisabetta Zucchi, Umberto Maria Musazzi, Guido Fedele, Ilaria Martinelli, Giulia Gianferrari, Cecilia Simonini, Nicola Fini, Andrea Ghezzi, Maria Caputo, Elisabetta Sette, Veria Vacchiano, Lucia Zinno, Pietro Anceschi, Elena Canali, Marco Vinceti, Salvatore Ferro, Jessica Mandrioli, Laura Ferri, Annalisa Gessani, Rocco Liguori, Pietro Cortelli, Roberto Michelucci, Fabrizio Salvi, Ilaria Bartolomei, Anna Maria Borghi, Andrea Zini, Rita Rinaldi, Valeria Tugnoli, Maura Pugliatti, Luca Codeluppi, Franco Valzania, Filippo Stragliati, Andi Nuredini, Sonia Romano, Alessandro D'Orsi, Liborio Parrino, Doriana Medici, Giovanna Pilurzi, Emilio Terlizzi, Donata Guidetti, Silvia De Pasqua, Mario Santangelo, Paola De Massis, Matteo Gizzi, Mario Casmiro, Pietro Querzani, Simonetta Morresi, Maria Vitiello, Marco Longoni, Alberto Patuelli, Susanna Malagù, Francesca Bianchi, Marco Currò Dossi, Cristiana Ganino
Publikováno v:
EClinicalMedicine, Vol 65, Iss , Pp 102256- (2023)
Summary: Background: Oral tauroursodeoxycholic acid (TUDCA) is a commercial drug currently tested in patients with amyotrophic lateral sclerosis (ALS) both singly and combined with sodium phenylbutyrate. This retrospective study aimed to investigate,
Externí odkaz:
https://doaj.org/article/0cb81697fbed4ad6b8eb8f12981ded73
Autor:
Giulia Gianferrari, Ilaria Martinelli, Cecilia Simonini, Elisabetta Zucchi, Nicola Fini, Maria Caputo, Andrea Ghezzi, Annalisa Gessani, Elena Canali, Mario Casmiro, Patrizia De Massis, Marco Curro’ Dossi, Silvia De Pasqua, Rocco Liguori, Marco Longoni, Doriana Medici, Simonetta Morresi, Alberto Patuelli, Maura Pugliatti, Mario Santangelo, Elisabetta Sette, Filippo Stragliati, Emilio Terlizzi, Veria Vacchiano, Lucia Zinno, Salvatore Ferro, Amedeo Amedei, Tommaso Filippini, Marco Vinceti, ERRALS GROUP, Jessica Mandrioli
Publikováno v:
Life, Vol 13, Iss 4, p 942 (2023)
Few studies have focused on elderly (>80 years) amyotrophic lateral sclerosis (ALS) patients, who represent a fragile subgroup generally not included in clinical trials and often neglected because they are more difficult to diagnose and manage. We an
Externí odkaz:
https://doaj.org/article/43912e475c184e20bba76a03f2fd946b
Autor:
Stefania Evangelisti, Laura Ludovica Gramegna, Silvia De Pasqua, Magali Jane Rochat, Luca Morandi, Micaela Mitolo, Claudio Bianchini, Gianfranco Vornetti, Claudia Testa, Patrizia Avoni, Rocco Liguori, Raffaele Lodi, Caterina Tonon
Publikováno v:
Diagnostics, Vol 12, Iss 10, p 2305 (2022)
Myotonic dystrophy type 1 (DM1) is a genetic disorder caused by a (CTG) expansion in the DM protein kinase (DMPK) gene, representing the most common adult muscular dystrophy, characterized by a multisystem involvement with predominantly skeletal musc
Externí odkaz:
https://doaj.org/article/886123fd763b4aac9bc93314dcdd8874
Autor:
Giulia Gianferrari, Ilaria Martinelli, Elisabetta Zucchi, Cecilia Simonini, Nicola Fini, Marco Vinceti, Salvatore Ferro, Annalisa Gessani, Elena Canali, Franco Valzania, Elisabetta Sette, Maura Pugliatti, Valeria Tugnoli, Lucia Zinno, Salvatore Stano, Mario Santangelo, Silvia De Pasqua, Emilio Terlizzi, Donata Guidetti, Doriana Medici, Fabrizio Salvi, Rocco Liguori, Veria Vacchiano, Mario Casmiro, Pietro Querzani, Marco Currò Dossi, Alberto Patuelli, Simonetta Morresi, Marco Longoni, Patrizia De Massis, Rita Rinaldi, Annamaria Borghi, ERRALS GROUP, Amedeo Amedei, Jessica Mandrioli
Publikováno v:
Biomedicines, Vol 10, Iss 4, p 819 (2022)
Increased incidence rates of amyotrophic lateral sclerosis (ALS) have been recently reported across various Western countries, although geographic and temporal variations in terms of incidence, clinical features and genetics are not fully elucidated.
Externí odkaz:
https://doaj.org/article/135ad94d3dfb4fe89ac3fb784804710f
Autor:
Giovanni Rizzo, Anna Federica Marliani, Stella Battaglia, Luca Albini Riccioli, Silvia De Pasqua, Veria Vacchiano, Rossella Infante, Patrizia Avoni, Vincenzo Donadio, Massimiliano Passaretti, Ilaria Bartolomei, Fabrizio Salvi, Rocco Liguori, on behalf of the BoReALS group
Publikováno v:
Journal of Clinical Medicine, Vol 9, Iss 8, p 2538 (2020)
Clinical signs of upper motor neuron (UMN) involvement are important in the diagnosis of amyotrophic lateral sclerosis (ALS) though are often difficult to analyze. Many studies using both qualitative and quantitative evaluations have reported abnorma
Externí odkaz:
https://doaj.org/article/0e528c7be8ca47fdb39c0a092b345c0e
Autor:
Rocco Liguori, Alex Incensi, Silvia de Pasqua, Renzo Mignani, Enrico Fileccia, Marisa Santostefano, Elena Biagini, Claudio Rapezzi, Silvia Palmieri, Ilaria Romani, Walter Borsini, Alessandro Burlina, Roberto Bombardi, Marco Caprini, Patrizia Avoni, Vincenzo Donadio
Publikováno v:
PLoS ONE, Vol 12, Iss 7, p e0180581 (2017)
Fabry Disease (FD) is characterized by globotriaosylceramide-3 (Gb3) accumulation in several tissues and a small fibre neuropathy (SFN), however the underlying mechanisms are poorly known. This study aimed to: 1) ascertain the presence of Gb3 deposit
Externí odkaz:
https://doaj.org/article/ffa3ab7f4802476980d29491895ea22c
Autor:
Mandrioli, Giulia Gianferrari, Ilaria Martinelli, Cecilia Simonini, Elisabetta Zucchi, Nicola Fini, Maria Caputo, Andrea Ghezzi, Annalisa Gessani, Elena Canali, Mario Casmiro, Patrizia De Massis, Marco Curro’ Dossi, Silvia De Pasqua, Rocco Liguori, Marco Longoni, Doriana Medici, Simonetta Morresi, Alberto Patuelli, Maura Pugliatti, Mario Santangelo, Elisabetta Sette, Filippo Stragliati, Emilio Terlizzi, Veria Vacchiano, Lucia Zinno, Salvatore Ferro, Amedeo Amedei, Tommaso Filippini, Marco Vinceti, ERRALS GROUP ERRALS GROUP, Jessica
Publikováno v:
Life; Volume 13; Issue 4; Pages: 942
Few studies have focused on elderly (>80 years) amyotrophic lateral sclerosis (ALS) patients, who represent a fragile subgroup generally not included in clinical trials and often neglected because they are more difficult to diagnose and manage. We an
Autor:
Ilaria Bartolomei, Vincenzo Donadio, Dario de Biase, Sabina Capellari, Annalisa Pession, Giovanni Rizzo, Federico Oppi, Anna Bartoletti-Stella, Silvia de Pasqua, BoReALS, Patrizia Avoni, Adriano Chiò, Veria Vacchiano, Rocco Liguori, Giacomo Mengozzi, Fabrizio Salvi, Piero Parchi
Publikováno v:
Journal of Neurology
Background 5–10% of amyotrophic lateral sclerosis (ALS) patients presented a positive family history (fALS). More than 30 genes have been identified in association with ALS/frontotemporal dementia (FTD) spectrum, with four major genes accounting fo
Autor:
Faraz Faghri, Fabian Brunn, Anant Dadu, Elisabetta Zucchi, Ilaria Martinelli, Letizia Mazzini, Rosario Vasta, Antonio Canosa, Cristina Moglia, Andrea Calvo, Michael A Nalls, Roy H Campbell, Jessica Mandrioli, Bryan J Traynor, Adriano Chiò, Umberto Manera, Francesca Palumbo, Alessandro Bombaci, Maurizio Grassano, Maura Brunetti, Federico Casale, Giuseppe Fuda, Paolina Salamone, Barbara Iazzolino, Laura Peotta, Paolo Cugnasco, Giovanni De Marco, Maria Claudia Torrieri, Salvatore Gallone, Marco Barberis, Luca Sbaiz, Salvatore Gentile, Alessandro Mauro, Fabiola De Marchi, Lucia Corrado, Sandra D'Alfonso, Antonio Bertolotto, Daniele Imperiale, Marco De Mattei, Salvatore Amarù, Cristoforo Comi, Carmelo Labate, Fabio Poglio, Luigi Ruiz, Lucia Testa, Eugenia Rota, Paolo Ghiglione, Nicola Launaro, Alessia Di Sapio, Nicola Fini, Giulia Gianferrari, Cecilia Simonini, Stefano Meletti, Rocco Liguori, Veria Vacchiano, Fabrizio Salvi, Ilaria Bartolomei, Roberto Michelucci, Pietro Cortelli, Rita Rinaldi, Anna Maria Borghi, Andrea Zini, Elisabetta Sette, Valeria Tugnoli, Maura Pugliatti, Elena Canali, Luca Codeluppi, Franco Valzania, Lucia Zinno, Giovanni Pavesi, Doriana Medici, Giovanna Pilurzi, Emilio Terlizzi, Donata Guidetti, Silvia De Pasqua, Mario Santangelo, Patrizia De Massis, Martina Bracaglia, Mario Casmiro, Pietro Querzani, Simonetta Morresi, Marco Longoni, Alberto Patuelli, Susanna Malagù, Marco Currò Dossi, Simone Vidale, Salvatore Ferro
Publikováno v:
Lancet Digit Health
Amyotrophic lateral sclerosis (ALS) is known to represent a collection of overlapping syndromes. Various classification systems based on empirical observations have been proposed, but it is unclear to what extent they reflect ALS population substruct
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::794f8f9293cd377113fd8f556fc9d561
https://hdl.handle.net/11585/889271
https://hdl.handle.net/11585/889271
Autor:
Isabella Moroni, Marcello Esposito, Annamaria Gallone, Francesco Logullo, Federico Verde, Jean-François Desaphy, Luciano Merlini, Antonella Pini, Giulia Ricci, Francesca Torri, Alessandra Ariatti, Paola Tonin, Massimiliano Filosto, Silvia de Pasqua, Rocco Liguori, Pia Bernasconi, Renato Mantegazza, Lorenzo Maggi, Gabriele Siciliano, Eleonora Canioni, Raffaella Brugnoni, Vincenzo Silani, Caterina Mariotti, Elena Pegoraro, Paola Imbrici, Lucia Ruggiero, Pietro Riguzzi, Cristina Petrelli
Publikováno v:
Neuromuscular disorders : NMD. 31(4)
Non-dystrophic myotonias and periodic paralyses are a heterogeneous group of disabling diseases classified as skeletal muscle channelopathies. Their genetic characterization is essential for prognostic and therapeutic purposes; however, several genes