Zobrazeno 1 - 10
of 415
pro vyhledávání: '"Elena Pegoraro"'
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:
Lorenzo Blasi, Daniele Sabbatini, Andrea Fortuna, Giorgia Querin, Ilaria Martinelli, Sara Vianello, Cinzia Bertolin, Davide Pareyson, Maria Pennuto, Elena Pegoraro, Luca Bello, Gianni Sorarù
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-6 (2023)
Abstract Serum creatinine has been indicated as a potential marker of motor function in SBMA and results form previous longitudinal studies pointed to its decline over time. This is a longitudinal retrospective study investigating creatinine changes
Externí odkaz:
https://doaj.org/article/235f22822deb4df9bceedd58a3147aac
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:
Caterina Marchioretti, Giulia Zanetti, Marco Pirazzini, Gaia Gherardi, Leonardo Nogara, Roberta Andreotti, Paolo Martini, Lorenzo Marcucci, Marta Canato, Samir R. Nath, Emanuela Zuccaro, Mathilde Chivet, Cristina Mammucari, Marco Pacifici, Anna Raffaello, Rosario Rizzuto, Andrea Mattarei, Maria A. Desbats, Leonardo Salviati, Aram Megighian, Gianni Sorarù, Elena Pegoraro, Elisa Belluzzi, Assunta Pozzuoli, Carlo Biz, Pietro Ruggieri, Chiara Romualdi, Andrew P. Lieberman, Gopal J. Babu, Marco Sandri, Bert Blaauw, Manuela Basso, Maria Pennuto
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-19 (2023)
Marchioretti and colleagues show that in the skeletal muscle of SBMA mice and patients there is an early, but reversible alteration of expression of genes involved in muscle contraction and of mitochondrial respiration, followed by accumulation of ca
Externí odkaz:
https://doaj.org/article/82a8527dca0543cd91761ed8387c3654
Autor:
Ursula Moore, Ericky Caldas de Almeida Araújo, Harmen Reyngoudt, Heather Gordish‐Dressman, Fiona E. Smith, Ian Wilson, Meredith James, Anna Mayhew, Laura Rufibach, John W. Day, Kristi J. Jones, Diana X. Bharucha‐Goebel, Emmanuelle Salort‐Campana, Alan Pestronk, Maggie C. Walter, Carmen Paradas, Tanya Stojkovic, Madoka Mori‐Yoshimura, Elena Bravver, Elena Pegoraro, Jerry R. Mendell, The Jain COS Consortium, Kate Bushby, Andrew M. Blamire, Volker Straub, Pierre G. Carlier, Jordi Diaz‐Manera
Publikováno v:
Journal of Cachexia, Sarcopenia and Muscle, Vol 13, Iss 6, Pp 2888-2897 (2022)
Abstract Background Water T2 (T2H2O) mapping is increasingly being used in muscular dystrophies to assess active muscle damage. It has been suggested as a surrogate outcome measure for clinical trials. Here, we investigated the prognostic utility of
Externí odkaz:
https://doaj.org/article/a01a423d88254013ace5119cb35d6db2
Autor:
Aurora Fusto, Denise Cassandrini, Chiara Fiorillo, Valentina Codemo, Guja Astrea, Adele D’Amico, Lorenzo Maggi, Francesca Magri, Marika Pane, Giorgio Tasca, Daniele Sabbatini, Luca Bello, Roberta Battini, Pia Bernasconi, Fabiana Fattori, Enrico Silvio Bertini, Giacomo Comi, Sonia Messina, Tiziana Mongini, Isabella Moroni, Chiara Panicucci, Angela Berardinelli, Alice Donati, Vincenzo Nigro, Antonella Pini, Melania Giannotta, Claudia Dosi, Enzo Ricci, Eugenio Mercuri, Giovanni Minervini, Silvio Tosatto, Filippo Santorelli, Claudio Bruno, Elena Pegoraro
Publikováno v:
Acta Neuropathologica Communications, Vol 10, Iss 1, Pp 1-20 (2022)
Abstract Mutations in the RYR1 gene, encoding ryanodine receptor 1 (RyR1), are a well-known cause of Central Core Disease (CCD) and Multi-minicore Disease (MmD). We screened a cohort of 153 patients carrying an histopathological diagnosis of core myo
Externí odkaz:
https://doaj.org/article/3ed5f40b63494afb99f982bee9a3292a
Autor:
Hong Joo Kim, Payam Mohassel, Sandra Donkervoort, Lin Guo, Kevin O’Donovan, Maura Coughlin, Xaviere Lornage, Nicola Foulds, Simon R. Hammans, A. Reghan Foley, Charlotte M. Fare, Alice F. Ford, Masashi Ogasawara, Aki Sato, Aritoshi Iida, Pinki Munot, Gautam Ambegaonkar, Rahul Phadke, Dominic G. O’Donovan, Rebecca Buchert, Mona Grimmel, Ana Töpf, Irina T. Zaharieva, Lauren Brady, Ying Hu, Thomas E. Lloyd, Andrea Klein, Maja Steinlin, Alice Kuster, Sandra Mercier, Pascale Marcorelles, Yann Péréon, Emmanuelle Fleurence, Adnan Manzur, Sarah Ennis, Rosanna Upstill-Goddard, Luca Bello, Cinzia Bertolin, Elena Pegoraro, Leonardo Salviati, Courtney E. French, Andriy Shatillo, F. Lucy Raymond, Tobias B. Haack, Susana Quijano-Roy, Johann Böhm, Isabelle Nelson, Tanya Stojkovic, Teresinha Evangelista, Volker Straub, Norma B. Romero, Jocelyn Laporte, Francesco Muntoni, Ichizo Nishino, Mark A. Tarnopolsky, James Shorter, Carsten G. Bönnemann, J. Paul Taylor
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-18 (2022)
Missense variants in RNA-binding proteins underlie many diseases. Here the authors report an oculopharyngeal muscular dystrophy caused by heterozygous frameshift mutations in HNRNPA2B1 that alter its nucleocytoplasmic transport dynamics and result in
Externí odkaz:
https://doaj.org/article/43f9513e8b2941959cf7d7957b2785b1
Autor:
Alberto Terrin, Luca Bello, Maria Lucia Valentino, Leonardo Caporali, Gianni Sorarù, Valerio Carelli, Ferdinando Maggioni, Massimo Zeviani, Elena Pegoraro
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-11 (2022)
Abstract Recent scientific evidence suggests a link between migraine and brain energy metabolism. In fact, migraine is frequently observed in mitochondrial disorders. We studied 46 patients affected by mitochondrial disorders, through a headache-focu
Externí odkaz:
https://doaj.org/article/39b0a8fd519b467686fff36895d8a90a
Autor:
Amalia Lupi, Simone Spolaor, Alessandro Favero, Luca Bello, Roberto Stramare, Elena Pegoraro, Marco Salvatore Nobile
Publikováno v:
PLoS ONE, Vol 18, Iss 5, p e0285422 (2023)
PurposeCongenital myopathies are a heterogeneous group of diseases affecting the skeletal muscles and characterized by high clinical, genetic, and histological variability. Magnetic Resonance (MR) is a valuable tool for the assessment of involved mus
Externí odkaz:
https://doaj.org/article/d12997091eb74309bf6d538adccbf664