Zobrazeno 1 - 10
of 41
pro vyhledávání: '"Cristina Sancricca"'
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:
Paola De Filippi, Edoardo Errichiello, Antonio Toscano, Tiziana Mongini, Maurizio Moggio, Sabrina Ravaglia, Massimiliano Filosto, Serenella Servidei, Olimpia Musumeci, Fabio Giannini, Alberto Piperno, Gabriele Siciliano, Giulia Ricci, Antonio Di Muzio, Miriam Rigoldi, Paola Tonin, Michele Giovanni Croce, Elena Pegoraro, Luisa Politano, Lorenzo Maggi, Roberta Telese, Alberto Lerario, Cristina Sancricca, Liliana Vercelli, Claudio Semplicini, Barbara Pasanisi, Bruno Bembi, Andrea Dardis, Ilaria Palmieri, Cristina Cereda, Enza Maria Valente, Cesare Danesino
Publikováno v:
Current Issues in Molecular Biology, Vol 45, Iss 4, Pp 2847-2860 (2023)
Pompe disease (PD) is a monogenic autosomal recessive disorder caused by biallelic pathogenic variants of the GAA gene encoding lysosomal alpha-glucosidase; its loss causes glycogen storage in lysosomes, mainly in the muscular tissue. The genotype–
Externí odkaz:
https://doaj.org/article/fb85d4b6cff3436c86279d7bcfd0dd27
Autor:
Guido Primiano, Paolo Mariotti, Ida Turrini, Cristina Sancricca, Andrea Sabino, Alessandra Torraco, Rosalba Carrozzo, Serenella Servidei
Publikováno v:
Life, Vol 12, Iss 1, p 5 (2021)
The central nervous system is metabolically very demanding and consequently vulnerable to defects of the mitochondrial respiratory chain. While the clinical manifestations and the corresponding radiological findings of the brain involvement in mitoch
Externí odkaz:
https://doaj.org/article/e4549ce6c29c44c2b88235a38c798e12
Autor:
Carla Piano, Enrico Di Stasio, Guido Primiano, Delfina Janiri, Marco Luigetti, Giovanni Frisullo, Catello Vollono, Matteo Lucchini, Valerio Brunetti, Mauro Monforte, Valeria Guglielmi, Giacomo Della Marca, Amelia Evoli, Camillo Marra, Massimiliano Mirabella, Davide Quaranta, Enzo Ricci, Serenella Servidei, Gabriella Silvestri, Simone Bellavia, Sara Bortolani, Francesco Bove, Riccardo Di Iorio, Andrea Di Paolantonio, Danilo Genovese, Tamara Ialongo, Maria Rita Lo Monaco, Jessica Marotta, Agata Katia Patanella, Alessia Perna, Martina Petracca, Giorgia Presicce, Vittorio Riso, Eleonora Rollo, Angela Romano, Marina Romozzi, Cristina Sancricca, Irene Scala, Gregorio Spagni, Marcella Solito, Luca Tricoli, Paola Zinzi, Paolo Calabresi, Anna Rita Bentivoglio
Publikováno v:
Frontiers in Neurology, Vol 11 (2020)
Objective: Neurological sequelae of SARS-CoV-2 infection have already been reported, but there is insufficient data about the impact of the pandemic on the management of the patients with chronic neurological diseases. We aim to analyze the effect of
Externí odkaz:
https://doaj.org/article/8b15a60869134d2f9ae6ef7d48bd129a
Autor:
Claudia Strafella, Giulia Campoli, Rosaria Maria Galota, Valerio Caputo, Giulia Pagliaroli, Stefania Carboni, Stefania Zampatti, Cristina Peconi, Julia Mela, Cristina Sancricca, Guido Primiano, Giulietta Minozzi, Serenella Servidei, Raffaella Cascella, Emiliano Giardina
Publikováno v:
Frontiers in Neurology, Vol 10 (2019)
The diagnosis of LGMD2A (calpainopathy) can be challenging due to genetic heterogeneity and to high similarity with other LGMDs or neuromuscular disorders. In this setting, NGS panels are highly recommended to perform differential diagnosis, identify
Externí odkaz:
https://doaj.org/article/43e02823761e472786c7687376842595
Autor:
Roberta Morosetti M.D., Teresa Gidaro, Aldobrando Broccolini, Carla Gliubizzi, Cristina Sancricca, Pietro Attilio Tonali, Enzo Ricci, Massimiliano Mirabella M.D., Ph.D.
Publikováno v:
Cell Transplantation, Vol 20 (2011)
Facioscapulohumeral muscular dystrophy (FSHD) is the third most frequent inherited myopathy. We previously demonstrated that mesoangioblasts can be efficiently isolated from FSHD muscles, although their differentiation ability into skeletal muscle wa
Externí odkaz:
https://doaj.org/article/0d8c704a089d46c2803583317f82359c
Autor:
Stefania Della Vecchia, Alessandra Tessa, Claudia Dosi, Jacopo Baldacci, Rosa Pasquariello, Antonella Antenora, Guja Astrea, Maria Teresa Bassi, Roberta Battini, Carlo Casali, Ettore Ciof, Greta Conti, Giovanna De Michele, Anna Rita Ferrari, Alessandro Filla, Chiara Fiorillo, Carlo Fusco, Salvatore Gallone, Chiara Germiniasi, Renzo Guerrini, Shalom Haggiag, Diego Lopergolo, Andrea Martinuzzi, Federico Melani, Andrea Mignarri, Elena Panzeri, Antonella Pini, Anna Maria Pinto, Francesca Pochiero, Guido Primiano, Elena Procopio, Alessandra Renieri, Romina Romaniello, Cristina Sancricca, Serenella Servidei, Carlotta Spagnoli, Chiara Ticci, Anna Rubegni, Filippo Maria Santorelli
Publikováno v:
Journal of Neurology. 270:2345-2346
Autor:
Cristina Sancricca, Guido Primiano, Bjarne Udd, Antonio Petrucci, Serenella Servidei, Marco Savarese
Publikováno v:
Neuromuscular Disorders. 31:532-538
Mutations in the TNNT1 gene cause an infantile, lethal form of myopathy named "Amish" Nemaline Myopathy. Adult patients are very rarely described. We report a 49-year-old patient who presented a slowly progressive phenotype characterized by myalgia,
Autor:
Guido Primiano, Paolo Mariotti, Ida Turrini, Cristina Sancricca, Andrea Sabino, Alessandra Torraco, Rosalba Carrozzo, Serenella Servidei
Publikováno v:
Life, Vol 12, Iss 5, p 5 (2022)
Life
Life
The central nervous system is metabolically very demanding and consequently vulnerable to defects of the mitochondrial respiratory chain. While the clinical manifestations and the corresponding radiological findings of the brain involvement in mitoch
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d665dbbaf45ffb7e00883a7e2efae24
http://hdl.handle.net/10807/205615
http://hdl.handle.net/10807/205615
Autor:
Guja Astrea, Anna Rita Ferrari, Stefania Della Vecchia, Cristina Sancricca, Anna Maria Pinto, Chiara Ticci, Claudia Dosi, Federico Melani, Greta Conti, Carlo Fusco, Antonella Pini, Diego Lopergolo, Ettore Cioffi, Alessandra Tessa, Carlo Casali, Alessandro Filla, Andrea Martinuzzi, Chiara Germiniasi, Romina Romaniello, Guido Primiano, Alessandra Renieri, Jacopo Baldacci, Filippo M. Santorelli, Elena Procopio, Renzo Guerrini, Salvatore Gallone, Shalom Haggiag, Chiara Fiorillo, Andrea Mignarri, Carlotta Spagnoli, Elena Panzeri, Francesca Pochiero, Antonella Antenora, Rosa Pasquariello, Giovanna De Michele, Maria Teresa Bassi, Anna Rubegni, Serenella Servidei, Roberta Battini
Monoallelic variants in the KIF1A gene are associated with a large set of clinical phenotypes including neurodevelopmental and neurodegenerative disorders, underpinned by a broad spectrum of central and peripheral nervous system involvement. In a mul
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b6bc7fd51a1a5ca9e58594df4786c74
http://hdl.handle.net/11573/1619821
http://hdl.handle.net/11573/1619821