Zobrazeno 1 - 10
of 107
pro vyhledávání: '"Marina, Grandis"'
Autor:
Claudia Strafella, Domenica Megalizzi, Giulia Trastulli, Emma Proietti Piorgo, Luca Colantoni, Giorgio Tasca, Mauro Monforte, Stefania Zampatti, Guido Primiano, Cristina Sancricca, Sara Bortolani, Eleonora Torchia, Beatrice Ravera, Francesca Torri, Giulio Gadaleta, Barbara Risi, Filomena Caria, Francesca Gerardi, Elena Carraro, Valeria Gioiosa, Matteo Garibaldi, Laura Tufano, Erica Frezza, Roberto Massa, Carlo Caltagirone, Elena Maria Pennisi, Antonio Petrucci, Marika Pane, Annalia Frongia, Francesca Gragnani, Marianna Scutifero, Paola Mandich, Marina Grandis, Maria Antonietta Maioli, Carlo Casali, Elisabetta Manfroi, Luisa Politano, Luigia Passamano, Roberta Petillo, Carmelo Rodolico, Alessia Pugliese, Stefano Carlo Previtali, Valeria Sansone, Liliana Vercelli, Tiziana Enrica Mongini, Giulia Ricci, Gabriele Siciliano, Massimiliano Filosto, Enzo Ricci, Raffaella Cascella, Emiliano Giardina, FSHD Italian Clinical Group
Publikováno v:
Clinical Epigenetics, Vol 16, Iss 1, Pp 1-13 (2024)
Abstract Background Facioscapulohumeral dystrophy (FSHD) is a myopathy characterized by the loss of repressive epigenetic features affecting the D4Z4 locus (4q35). The assessment of DNA methylation at two regions (DUX4-PAS and DR1) of D4Z4 locus prov
Externí odkaz:
https://doaj.org/article/0d15d9c849414d05b47cb23663857b6e
Autor:
Sara Massucco, Cristina Schenone, Elena Faedo, Chiara Gemelli, Emilia Bellone, Lucio Marinelli, Davide Pareyson, Chiara Pisciotta, Tiziana Mongini, Angelo Schenone, Marina Grandis
Publikováno v:
Frontiers in Neurology, Vol 14 (2024)
Sleep-disordered breathing has been reported in Charcot–Marie–Tooth disease (CMT) type 1A in association with diaphragmatic weakness and sleep apnea syndrome, mainly of the obstructive type (OSA). Improvement has been observed not only in sleep q
Externí odkaz:
https://doaj.org/article/ecc7757579ef4f69bbec7debe720e4d1
Autor:
Andrea Gaudio, Fabio Gotta, Clarissa Ponti, Francesca Sanguineri, Lucia Trevisan, Alessandro Geroldi, Serena Patrone, Chiara Gemelli, Corrado Cabona, Guja Astrea, Chiara Fiorillo, Stefano Gustincich, Marina Grandis, Paola Mandich
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
Hereditary myopathies represent a clinically and genetically heterogeneous group of neuromuscular disorders, characterized by highly variable clinical presentations and frequently overlapping phenotypes with other neuromuscular disorders, likely infl
Externí odkaz:
https://doaj.org/article/45c8fc767de94fa9812c950d98adf754
Autor:
Bruno Kusznir Vitturi, Marina Grandis, Sabrina Beltramini, Andrea Orsi, Angelo Schenone, Giancarlo Icardi, Paolo Durando
Publikováno v:
Journal of Medical Case Reports, Vol 15, Iss 1, Pp 1-4 (2021)
Abstract Background Parsonage–Turner syndrome is an acute peripheral neuropathy that affects the upper brachial plexus region. Previously published reports demonstrate that the condition can be triggered by surgery, infection, autoimmune diseases,
Externí odkaz:
https://doaj.org/article/efa2c801b8954dc28724e7d5dbcb95d8
Autor:
Laura Mori, Cristina Schenone, Filippo Cotellessa, Marta Ponzano, Alessia Aiello, Maria Lagostina, Sara Massucco, Lucio Marinelli, Marina Grandis, Carlo Trompetto, Angelo Schenone
Publikováno v:
Frontiers in Neurology, Vol 13 (2022)
Charcot-Marie-Tooth (CMT) patients present mainly lower limbs disability, with slowly progressive distal muscle weakness and atrophy, but hands impairment is a relevant problem affecting the quality of life (QoL). The evaluation of the upper limb is
Externí odkaz:
https://doaj.org/article/8d0e1413f2474d019e9d6dd6ff8262fa
Autor:
Lorenza Magliano, Laura Obici, Claudia Sforzini, Anna Mazzeo, Massimo Russo, Francesco Cappelli, Silvia Fenu, Marco Luigetti, Matteo Tagliapietra, Chiara Gemelli, Luca Leonardi, Stefano Tozza, Luca Guglielmo Pradotto, Giulia Citarelli, Alessandro Mauro, Fiore Manganelli, Giovanni Antonini, Marina Grandis, Gian Maria Fabrizi, Mario Sabatelli, Davide Pareyson, Federico Perfetto, Giampaolo Merlini, Giuseppe Vita, ATTRv Collaborators
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-11 (2021)
Abstract Background Hereditary transthyretin amyloidosis (hATTR), alias ATTR variant (ATTRv) is a severe and disabling disease causing sensory and motor neuropathy, autonomic dysfunction, and cardiomyopathy. The progressive decline of patient’s fun
Externí odkaz:
https://doaj.org/article/ec614e801b3a4556b8a4dca986e3adab
Autor:
Elena Scarsi, Sara Massucco, Pilar M. Ferraro, Arianna Cella, Stefano G. Grisanti, Andrea Assini, Alessandro Beronio, Fabio Della Cava, Chiara Gemelli, Fabio Bandini, Carlo Serrati, Massimo Del Sette, Angelo Schenone, Luana Benedetti, Valeria Prada, Marina Grandis
Publikováno v:
Life, Vol 13, Iss 4, p 1064 (2023)
We evaluated 13 patients affected by myasthenia gravis (MG) who had coronavirus disease 2019 (COVID-19) before vaccination and 14 myasthenic patients who contracted severe acute respiratory syndrome-coronavirus-2 (SARS-CoV-2) infection after vaccinat
Externí odkaz:
https://doaj.org/article/ac211d62f2df42d0b0abdfe073399c3a
Autor:
Eugenia Rota, Marina Grandis, Alessia Di Sapio, Elisabetta Ghiglione, Pietro Fiorentino, Alessandra Repetto, Claudia Giliberto, Chiara Gemelli, Nicola Morelli, Angelo Schenone, Dario Cocito
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-3 (2020)
Abstract Fabry disease (FD) is a systemic X-linked lysosomal disorder. A ‘peripheral nerve variant’ of FD has been hypothesized in subjects with neuropathy, without the early manifestations of the classic phenotype. A cohort of undiagnosed neurop
Externí odkaz:
https://doaj.org/article/de9d418b776d440c86380be0316ea68c
Autor:
Federica Rossi, Carlo Martinoli, Giovanni Murialdo, Angelo Schenone, Marina Grandis, Diego Ferone, Alberto Stefano Tagliafico
Publikováno v:
Journal of Ultrasonography, Vol 19, Iss 78, Pp 187-192 (2019)
Objective: In July 2017 a multidisciplinary clinical Center specialized in rare diseases was activated. A rare disease can involve the musculoskeletal system. A multimodality musculoskeletal imaging approach allows for a rapid diagnosis. The purpose
Externí odkaz:
https://doaj.org/article/b87175a542f74878b1141d53a339490d
Autor:
Chiara Gemelli, Alessandro Geroldi, Sara Massucco, Lucia Trevisan, Ilaria Callegari, Lucio Marinelli, Giulia Ursino, Mehrnaz Hamedani, Giulia Mennella, Silvia Stara, Giovanni Maggi, Laura Mori, Cristina Schenone, Fabio Gotta, Serena Patrone, Alessia Mammi, Paola Origone, Valeria Prada, Lucilla Nobbio, Paola Mandich, Angelo Schenone, Emilia Bellone, Marina Grandis
Publikováno v:
Life, Vol 12, Iss 3, p 402 (2022)
Charcot–Marie–Tooth (CMT) disease is the most commonly inherited neurological disorder. This study includes patients affected by CMT during regular follow-ups at the CMT clinic in Genova, a neuromuscular university center in the northwest of Ital
Externí odkaz:
https://doaj.org/article/6a0ea7e07bf84bfa957c4bd6181b2c97