Zobrazeno 1 - 10
of 185
pro vyhledávání: '"Carmelo Rodolico"'
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:
Cinzia Bettio, Federico Banchelli, Valentina Salsi, Roberto Vicini, Oscar Crisafulli, Lucia Ruggiero, Giulia Ricci, Elisabetta Bucci, Corrado Angelini, Angela Berardinelli, Silvia Bonanno, Maria Grazia D’Angelo, Antonio Di Muzio, Massimiliano Filosto, Erica Frezza, Lorenzo Maggi, Tiziana Mongini, Elena Pegoraro, Carmelo Rodolico, Marina Scarlato, Gaetano Vattemi, Daniele Velardo, Giuliano Tomelleri, Roberto D’Amico, Giuseppe D’Antona, Rossella Tupler
Publikováno v:
BMC Musculoskeletal Disorders, Vol 25, Iss 1, Pp 1-9 (2024)
Abstract Background In facioscapulohumeral muscular dystrophy (FSHD), it is not known whether physical activity (PA) practiced at young age is associated with the clinical presentation of disease. To assess this issue, we performed a retrospective co
Externí odkaz:
https://doaj.org/article/61de057bf13d4fb78dcd7f9489634400
Autor:
Luca Gentile, Massimo Russo, Carmelo Rodolico, Ilenia Arimatea, Giuseppe Vita, Antonio Toscano, Anna Mazzeo
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-7 (2021)
Abstract Multifocal motor neuropathy (MMN) is a rare disease with a prevalence of less than 1 per 100,000 people. Intravenous immunoglobulin (IVIG) therapy, performed for a long-term period, has been demonstrated able to improve the clinical picture
Externí odkaz:
https://doaj.org/article/949207f73311409782fe52dc677986fd
Autor:
Giulia Ricci, Fabiano Mele, Monica Govi, Lucia Ruggiero, Francesco Sera, Liliana Vercelli, Cinzia Bettio, Lucio Santoro, Tiziana Mongini, Luisa Villa, Maurizio Moggio, Massimiliano Filosto, Marina Scarlato, Stefano C. Previtali, Silvia Maria Tripodi, Elena Pegoraro, Roberta Telese, Antonio Di Muzio, Carmelo Rodolico, Elisabetta Bucci, Giovanni Antonini, Maria Grazia D’Angelo, Angela Berardinelli, Lorenzo Maggi, Rachele Piras, Maria Antonietta Maioli, Gabriele Siciliano, Giuliano Tomelleri, Corrado Angelini, Rossella Tupler
Publikováno v:
Scientific Reports, Vol 10, Iss 1, Pp 1-12 (2020)
Abstract Facioscapulohumeral muscular dystrophy (FSHD) is a myopathy with prevalence of 1 in 20,000. Almost all patients affected by FSHD carry deletions of an integral number of tandem 3.3 kilobase repeats, termed D4Z4, located on chromosome 4q35. A
Externí odkaz:
https://doaj.org/article/1f77ff0f42694a7eb9d9729bb0e05731
Autor:
Antonino Lupica, Rosaria Oteri, Sara Volta, Daniele Ghezzi, Selene Francesca Anna Drago, Carmelo Rodolico, Olimpia Musumeci, Antonio Toscano
Publikováno v:
Frontiers in Neurology, Vol 13 (2022)
BackgroundMultiple acyl-CoA dehydrogenase deficiency (MADD) is an autosomal recessive disorder of fatty acid oxidation due to deficiency of the mitochondrial electron transfer chain. The late-onset form is characterized by exercise intolerance, muscl
Externí odkaz:
https://doaj.org/article/a53109d9d3e04fc69abc5d5b15630425
Autor:
Arianna Manini, Megi Meneri, Carmelo Rodolico, Stefania Corti, Antonio Toscano, Giacomo Pietro Comi, Olimpia Musumeci, Dario Ronchi
Publikováno v:
Frontiers in Neurology, Vol 13 (2022)
The nuclear gene TK2 encodes the mitochondrial thymidine kinase, an enzyme involved in the phosphorylation of deoxycytidine and deoxythymidine nucleosides. Biallelic TK2 mutations are associated with a spectrum of clinical presentations mainly affect
Externí odkaz:
https://doaj.org/article/b5c28c6efce844de920d3d26d2604229
Autor:
Salvatore Benvenga, Alessandro Antonelli, Poupak Fallahi, Carmen Bonanno, Carmelo Rodolico, Fabrizio Guarneri
Publikováno v:
Journal of Clinical & Translational Endocrinology, Vol 26, Iss , Pp 100274- (2021)
A few patients with Hashimoto’s thyroiditis or Graves’ disease develop a multiform syndrome of the central nervous system (CNS) termed Hashimoto’s encephalopathy or steroid-responsive encephalopathy associated with autoimmune thyroid disease (H
Externí odkaz:
https://doaj.org/article/502aeba0361445e3a55e14e58d70cb5d
Autor:
Gemma Marinella, Guja Astrea, Bianca Buchignani, Denise Cassandrini, Stefano Doccini, Massimiliano Filosto, Daniele Galatolo, Salvatore Gallone, Fabio Giannini, Diego Lopergolo, Maria Antonietta Maioli, Francesca Magri, Alessandro Malandrini, Paola Mandich, Francesco Mari, Roberto Massa, Sabrina Mata, Federico Melani, Maurizio Moggio, Tiziana E. Mongini, Rosa Pasquariello, Elena Pegoraro, Federica Ricci, Giulia Ricci, Carmelo Rodolico, Anna Rubegni, Gabriele Siciliano, Martina Sperti, Chiara Ticci, Paola Tonin, Filippo M. Santorelli, Roberta Battini
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 23, p 14567 (2022)
Objective: To define the prevalence of variants in collagen VI genes through a next-generation sequencing (NGS) approach in undiagnosed patients with suspected neuromuscular disease and to propose a diagnostic flowchart to assess the real pathogenici
Externí odkaz:
https://doaj.org/article/bf9712b347b74909bee43fa5ac8dc555
Publikováno v:
Frontiers in Neurology, Vol 11 (2020)
Muscle-specific tyrosine kinase (MuSK) myasthenia gravis (MG) is a rare, frequently more severe, subtype of MG with different pathogenesis, and peculiar clinical features. The prevalence varies among countries and ethnic groups, affecting 5–8% of a
Externí odkaz:
https://doaj.org/article/45ea750c42ee4c12b01382e40e000b2a
Autor:
Olimpia Musumeci, Edoardo Ferlazzo, Carmelo Rodolico, Antonio Gambardella, Monica Gagliardi, Umberto Aguglia, Antonio Toscano
Publikováno v:
Frontiers in Neurology, Vol 11 (2020)
GLUT1 Deficiency Syndrome (GLUT1-DS) is a rare and potentially treatable neurometabolic condition, caused by a reduced glucose transport into the brain and clinically characterized by an epileptic encephalopathy with movement disorders. A wide inter-
Externí odkaz:
https://doaj.org/article/787048f533584a0fa2e63de769992b65