Zobrazeno 1 - 10
of 422
pro vyhledávání: '"Francesca, Gualandi"'
Autor:
Daniela Benati, Eleonora Cattin, Federico Corradi, Tommaso Ferrari, Eleonora Pedrazzoli, Clarissa Patrizi, Matteo Marchionni, Roberto Bertorelli, Veronica De Sanctis, Luciano Merlini, Alessandra Ferlini, Patrizia Sabatelli, Francesca Gualandi, Alessandra Recchia
Publikováno v:
Biomolecules, Vol 14, Iss 11, p 1412 (2024)
Collagen VI is an essential component of the extracellular matrix (ECM) composed by α1, α2 and α3 chains and encoded by COL6A1, COL6A2 and COL6A3 genes. Dominant negative pathogenic variants in COL6A genes result in defects in collagen VI protein
Externí odkaz:
https://doaj.org/article/c15d1ef4b5674ce0b4381b2d226368c3
Autor:
Fernanda Fortunato, Francesca Bianchi, Giulia Ricci, Francesca Torri, Francesca Gualandi, Marcella Neri, Marianna Farnè, Fabio Giannini, Alessandro Malandrini, Nila Volpi, Diego Lopergolo, Vincenzo Silani, Nicola Ticozzi, Federico Verde, Davide Pareyson, Silvia Fenu, Silvia Bonanno, Vincenzo Nigro, Cristina Peduto, Paola D’Ambrosio, Roberta Zeuli, Mariateresa Zanobio, Esther Picillo, Serenella Servidei, Guido Primiano, Cristina Sancricca, Monica Sciacco, Roberta Brusa, Massimiliano Filosto, Stefano Cotti Piccinelli, Elena Pegoraro, Tiziana Mongini, Luca Solero, Giulio Gadaleta, Chiara Brusa, Carlo Minetti, Claudio Bruno, Chiara Panicucci, Valeria A. Sansone, Christian Lunetta, Alice Zanolini, Antonio Toscano, Alessia Pugliese, Giulia Nicocia, Enrico Bertini, Michela Catteruccia, Daria Diodato, Antonio Atalaia, Teresinha Evangelista, Gabriele Siciliano, Alessandra Ferlini
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-7 (2023)
Abstract Background The development of e-health technologies for teleconsultation and exchange of knowledge is one of the core purposes of European Reference Networks (ERNs), including the ERN EURO-NMD for rare neuromuscular diseases. Within ERNs, th
Externí odkaz:
https://doaj.org/article/a63c0e0266e34366b30660e184a94201
Autor:
Alessandra Di Francesco, Anna Maria Raiola, Alida Dominietto, Carmen Di Grazia, Francesca Gualandi, Maria Teresa Van Lint, Stefania Bregante, Patrizia Chiusolo, Luca Laurenti, Federica Sora, Sabrina Giammarco, Elisabetta Metafuni, Alberto Fresa, Simona Sica, Emanuele Angelucci, Andrea Bacigalupo
Publikováno v:
Frontiers in Medicine, Vol 10 (2024)
We studied the incidence of acute graft versus host disease (GvHD) and its outcome in three consecutive time frames (year 2010), in 3,120 patients allografted in two transplant Centers between 1976 and 2020. The median age increased over the three pe
Externí odkaz:
https://doaj.org/article/b2f5860a7bb943ef95068c0b98e97149
Autor:
Federica Sora, Sabrina Giammarco, Anna Maria Raiola, Carmen Di Grazia, Stefania Bregante, Francesca Gualandi, Riccardo Varaldo, Patrizia Chiusolo, Simona Sica, Luca Laurenti, Idanna Innocenti, Francesco Autore, Elisabetta Metafuni, Eugenio Galli, Andrea Bacigalupo, Emanuele Angelucci
Publikováno v:
Blood Cancer Journal, Vol 12, Iss 7, Pp 1-3 (2022)
Externí odkaz:
https://doaj.org/article/a3f2328f1af9461bb540b341230400f0
Autor:
Walter Serra, Giulia Vitetta, Vera Uliana, Federico Barocelli, Valeria Barili, Isabella Allegri, Diego Ardissino, Francesca Gualandi, Antonio Percesepe
Publikováno v:
Heliyon, Vol 8, Iss 12, Pp e12373- (2022)
Background: Hypertrophic cardiomyopathy is an autosomal dominant disease. The main feature of this disorder is its occurrence in patients who present a left ventricular hypertrophy, unexplained by the loading conditions, usually asymmetric with great
Externí odkaz:
https://doaj.org/article/6b6bd0c7d7e543a2a9a15df01c6b3f9c
Autor:
Antonella Liantonio, Matteo Bertini, Antonietta Mele, Cristina Balla, Giorgia Dinoi, Rita Selvatici, Marco Mele, Annamaria De Luca, Francesca Gualandi, Paola Imbrici
Publikováno v:
Biomedicines, Vol 11, Iss 8, p 2297 (2023)
Brugada syndrome (BrS) is an inherited cardiac channelopathy first diagnosed in 1992 but still considered a challenging disease in terms of diagnosis, arrhythmia risk prediction, pathophysiology and management. Despite about 20% of individuals carryi
Externí odkaz:
https://doaj.org/article/d89ab9f0e25d432183f08f142fdad3e0
Autor:
Marianna Farnè, Cristina Balla, Alice Margutti, Rita Selvatici, Martina De Raffele, Assunta Di Domenico, Paola Imbrici, Elia De Maria, Mauro Biffi, Matteo Bertini, Claudio Rapezzi, Alessandra Ferlini, Francesca Gualandi
Publikováno v:
Cardiogenetics, Vol 11, Iss 3, Pp 139-147 (2021)
Brugada syndrome (BrS) is an inherited disorder with high allelic and genetic heterogeneity clinically characterized by typical coved-type ST segment elevation at the electrocardiogram (ECG), which may occur either spontaneously or after provocative
Externí odkaz:
https://doaj.org/article/e17ee66734544e7688e8d7d16268b950
Autor:
Matteo Bertini, Iacopo Olivotto, Alessandra Ferlini, Claudio Rapezzi, Elena Biagini, Ornella Leone, Raffaello Ditaranto, Valentina Ferrara, Angelo Giuseppe Caponetti, Ferdinando Pasquale, Maddalena Graziosi, Alessandra Berardini, Matteo Ziacchi, Mauro Biffi, Nazzareno Galiè, Luigi Lovato, Vanda Parisi, Luciano Potena, Matteo Minnucci, Chiara Chiti, Francesca Gualandi, Cesare Rossi, Giacomo Tini
Publikováno v:
Open Heart, Vol 9, Iss 1 (2022)
Externí odkaz:
https://doaj.org/article/076ad2a77e1a46e3a553b220efd922dc
Autor:
Maria S. Falzarano, Andrea Grilli, Silvia Zia, Mingyan Fang, Rachele Rossi, Francesca Gualandi, Paola Rimessi, Reem El Dani, Marina Fabris, Zhiyuan Lu, Wenyan Li, Tiziana Mongini, Federica Ricci, Elena Pegoraro, Luca Bello, Andrea Barp, Valeria A. Sansone, Madhuri Hegde, Barbara Roda, Pierluigi Reschiglian, Silvio Bicciato, Rita Selvatici, Alessandra Ferlini
Publikováno v:
HGG Advances, Vol 3, Iss 1, Pp 100054- (2022)
Summary: Urinary stem cells (USCs) are a non-invasive, simple, and affordable cell source to study human diseases. Here we show that USCs are a versatile tool for studying Duchenne muscular dystrophy (DMD), since they are able to address RNA signatur
Externí odkaz:
https://doaj.org/article/3a7a2bfb3cf140d9857e7dead5dabb32
Autor:
Maria Sofia Falzarano, Rachele Rossi, Andrea Grilli, Mingyan Fang, Hana Osman, Patrizia Sabatelli, Manuela Antoniel, Zhiyuan Lu, Wenyan Li, Rita Selvatici, Cristina Al-Khalili, Francesca Gualandi, Silvio Bicciato, Silvia Torelli, Alessandra Ferlini
Publikováno v:
Frontiers in Physiology, Vol 12 (2021)
Background: Neuromuscular disorders (NMDs) are a heterogeneous group of genetic diseases, caused by mutations in genes involved in spinal cord, peripheral nerve, neuromuscular junction, and muscle functions. To advance the knowledge of the pathologic
Externí odkaz:
https://doaj.org/article/73150439769649459f63a62da9f5f2a9