Zobrazeno 1 - 10
of 126
pro vyhledávání: '"Rita, Barresi"'
Autor:
Pawel Kiper, Sara Federico, Joanna Szczepańska-Gieracha, Patryk Szary, Adam Wrzeciono, Justyna Mazurek, Carlos Luque-Moreno, Aleksandra Kiper, Mattia Spagna, Rita Barresi, Błażej Cieślik
Publikováno v:
Life, Vol 14, Iss 7, p 790 (2024)
Using virtual reality (VR) for Muscular Dystrophy (MD) rehabilitation promises to be a novel therapeutic approach, potentially enhancing motor learning, functional outcomes, and overall quality of life. This systematic review primarily aimed to provi
Externí odkaz:
https://doaj.org/article/3bd1abe39015471785e3d6d4342bfe0a
Autor:
Silvia Salvalaggio, Andrea Turolla, Martina Andò, Rita Barresi, Francesca Burgio, Pierpaolo Busan, Anna Maria Cortese, Daniela D’Imperio, Laura Danesin, Giulio Ferrazzi, Lorenza Maistrello, Eleonora Mascotto, Ilaria Parrotta, Rachele Pezzetta, Elena Rigon, Anna Vedovato, Sara Zago, Marco Zorzi, Giorgio Arcara, Dante Mantini, Nicola Filippini
Publikováno v:
Frontiers in Aging Neuroscience, Vol 15 (2023)
BackgroundStroke is a debilitating disease affecting millions of people worldwide. Despite the survival rate has significantly increased over the years, many stroke survivors are left with severe impairments impacting their quality of life. Rehabilit
Externí odkaz:
https://doaj.org/article/3ddbbaa9230f4d66933bf4a6d9d4e101
Publikováno v:
Vaccines, Vol 11, Iss 6, p 1077 (2023)
Serological assays have been used to evaluate the magnitude of naturally acquired and BNT162b2 vaccine-induced immunity. In order to assess the extent to which the antibody response correlates with infection-mediated protection after vaccination, we
Externí odkaz:
https://doaj.org/article/6f0392855d5646a3ab46bef2ee242cd7
Autor:
Guja Astrea, Alessandro Romano, Corrado Angelini, Carlo Giuseppe Antozzi, Rita Barresi, Roberta Battini, Carla Battisti, Enrico Bertini, Claudio Bruno, Denise Cassandrini, Marina Fanin, Fabiana Fattori, Chiara Fiorillo, Renzo Guerrini, Lorenzo Maggi, Eugenio Mercuri, Federica Morani, Marina Mora, Francesca Moro, Ilaria Pezzini, Esther Picillo, Michele Pinelli, Luisa Politano, Anna Rubegni, Walter Sanseverino, Marco Savarese, Pasquale Striano, Annalaura Torella, Carlo Pietro Trevisan, Rosanna Trovato, Irina Zaraieva, Francesco Muntoni, Vincenzo Nigro, Adele D’Amico, Filippo M. Santorelli, the Italian CMD Network
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-9 (2018)
Abstract Background Dystroglycanopathy (α-DG) is a relatively common, clinically and genetically heterogeneous category of congenital forms of muscular dystrophy (CMD) and limb-girdle muscular dystrophy (LGMD) associated with hypoglycosylated α-dys
Externí odkaz:
https://doaj.org/article/942cbbd3b0c34010a24cbec1fcc32feb
Autor:
Andreas Roos, Peter F M van der Ven, Hadil Alrohaif, Heike Kölbel, Lorena Heil, Adela Della Marina, Joachim Weis, Marvin Aßent, Stefanie Beck-Wödl, Rita Barresi, Ana Töpf, Kaela O’Connor, Albert Sickmann, Nicolai Kohlschmidt, Magdeldin El Gizouli, Nancy Meyer, Nassam Daya, Valentina Grande, Karin Bois, Frank J Kaiser, Matthias Vorgerd, Christopher Schröder, Ulrike Schara-Schmidt, Andrea Gangfuss, Teresinha Evangelista, Luisa Röbisch, Andreas Hentschel, Anika Grüneboom, Dieter O Fuerst, Alma Kuechler, Andreas Tzschach, Christel Depienne, Hanns Lochmüller
Publikováno v:
Brain.
Filamin-A-interacting protein 1 (FILIP1) is a structural protein that is involved in neuronal and muscle function and integrity and interacts with FLNa and FLNc. Pathogenic variants in filamin-encoding genes have been linked to neurological disorders
Autor:
Elena Giusto, Lorenza Maistrello, Lucia Iannotta, Veronica Giusti, Ludovica Iovino, Rina Bandopadhyay, Angelo Antonini, Luigi Bubacco, Rita Barresi, Nicoletta Plotegher, Elisa Greggio, Laura Civiero
2.AbstractBackgroundParkinson’s disease is a progressive neurodegenerative disorder mainly distinguished by sporadic aetiology, although a genetic component is also well established. Variants in theLRRK2gene are associated with both familiar and sp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e72017335b1debd97e1622b79ffe0710
https://doi.org/10.1101/2023.04.28.538525
https://doi.org/10.1101/2023.04.28.538525
Autor:
Elizabeth Harris, Ana Topf, Rita Barresi, Judith Hudson, Helen Powell, James Tellez, Debbie Hicks, Anna Porter, Marta Bertoli, Teresinha Evangelista, Chiara Marini-Betollo, Ólafur Magnússon, Monkol Lek, Daniel MacArthur, Kate Bushby, Hanns Lochmüller, Volker Straub
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-12 (2017)
Abstract Background Limb girdle muscular dystrophies are a group of rare and genetically heterogeneous diseases that share proximal weakness as a common feature; however they are often lacking very specific phenotypic features to allow an accurate di
Externí odkaz:
https://doaj.org/article/756157a86465454187677c275a3b7caf
Autor:
Rita Barresi, T. Polvikoski, Sabine Specht, Jennifer Duff, Volker Straub, Richard Charlton, Ana Töpf
Publikováno v:
Neuromuscular Disorders. 31:660-665
Recessive mutations in the LAMA2 gene lead to congenital muscular dystrophy type 1A and limb girdle muscular dystrophy R23 with complete or partial laminin α2 chain deficiency. Complete laminin α2 chain deficiency presents with early onset of sever
Autor:
Chiara Folland, Russell Johnsen, Adriana Botero Gomez, Daniel Trajanoski, Mark R. Davis, Ursula Moore, Volker Straub, Rita Barresi, Michela Guglieri, Hannah Hayhurst, Andrew M. Schaefer, Nigel G. Laing, Philipa J. Lamont, Gianina Ravenscroft
Publikováno v:
Neuropathology and applied neurobiologyREFERENCES. 48(7)
Dysferlinopathy is an autosomal recessive muscular dystrophy, caused by bi-allelic variants in the gene encoding dysferlin (DYSF). Onset typically occurs in the second to third decade and is characterised by slowly progressive skeletal muscle weaknes
Autor:
Beatrice, Riva, Emanuela, Pessolano, Edoardo, Quaglia, Celia, Cordero-Sanchez, Irene P, Bhela, Ana, Topf, Marta, Serafini, Daniel, Cox, Elizabeth, Harris, Matteo, Garibaldi, Rita, Barresi, Tracey, Pirali, Armando A, Genazzani
Publikováno v:
Cell calcium. 105
Gain-of-function mutations on STIM1 and ORAI1 genes are responsible for an increased store-operated calcium entry, and underlie the characteristic symptoms of three overlapping ultra-rare genetic disorders (i.e tubular aggregate myopathy, Stormorken