Zobrazeno 1 - 10
of 205
pro vyhledávání: '"Giovanni, Baranello"'
Profiling neuroinflammatory markers and response to nusinersen in paediatric spinal muscular atrophy
Autor:
Qiang Zhang, Ying Hong, Chiara Brusa, Mariacristina Scoto, Nikki Cornell, Parth Patel, Giovanni Baranello, Francesco Muntoni, Haiyan Zhou
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-9 (2024)
Abstract Neuroinflammation is an emerging clinical feature in spinal muscular atrophy (SMA). Characterizing neuroinflammatory cytokines in cerebrospinal fluid (CSF) in SMA and their response to nusinersen is important for identifying new biomarkers a
Externí odkaz:
https://doaj.org/article/1c350e729d09469e8b88513c3bf73e17
Autor:
Luke Perry, Georgia Stimpson, Leeha Singh, Jasper M. Morrow, Sachit Shah, Giovanni Baranello, Francesco Muntoni, Anna Sarkozy
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 10, Iss 7, Pp 1219-1229 (2023)
Abstract Objective Characterise the diagnostic and prognostic value of muscle MRI patterns as biomarkers in a genetically heterogeneous nemaline myopathy (NM) patient cohort. Methods Modified Mercuri scoring of lower limb MRI in genetically character
Externí odkaz:
https://doaj.org/article/27f9a36c99974d868cd782ce561793a9
Autor:
Mary Chesshyre, Deborah Ridout, Yasumasa Hashimoto, Yoko Ookubo, Silvia Torelli, Kate Maresh, Valeria Ricotti, Lianne Abbott, Vandana Ayyar Gupta, Marion Main, Giulia Ferrari, Anna Kowala, Yung‐Yao Lin, Francesco Saverio Tedesco, Mariacristina Scoto, Giovanni Baranello, Adnan Manzur, Yoshitsugu Aoki, Francesco Muntoni
Publikováno v:
Journal of Cachexia, Sarcopenia and Muscle, Vol 13, Iss 2, Pp 1360-1372 (2022)
Abstract Background Duchenne muscular dystrophy (DMD) is caused by DMD mutations leading to dystrophin loss. Full‐length Dp427 is the primary dystrophin isoform expressed in muscle and is also expressed in the central nervous system (CNS). Two shor
Externí odkaz:
https://doaj.org/article/f0e9fb8a39b84e67b80fc0751fc0cab9
Autor:
Georgia Stimpson, Sarah Raquq, Mary Chesshyre, Mary Fewtrell, Deborah Ridout, Anna Sarkozy, Adnan Manzur, Vandana Ayyar Gupta, Ramona De Amicis, Francesco Muntoni, Giovanni Baranello, the NorthStar Network
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-11 (2022)
Abstract Objectives The objective of this study is to analyse retrospective, observational, longitudinal growth (weight, height and BMI) data in ambulatory boys aged 5–12 years with Duchenne muscular dystrophy (DMD). Background We considered glucoc
Externí odkaz:
https://doaj.org/article/9839128fa22d4b0f98c61ed228c910e7
Autor:
Haiyan Zhou, Ying Hong, Mariacristina Scoto, Alison Thomson, Emma Pead, Tom MacGillivray, Elena Hernandez-Gerez, Francesco Catapano, Jinhong Meng, Qiang Zhang, Gillian Hunter, Hannah K. Shorrock, Thomas K. Ng, Abedallah Hamida, Mathilde Sanson, Giovanni Baranello, Kevin Howell, Thomas H. Gillingwater, Paul Brogan, Dorothy A. Thompson, Simon H. Parson, Francesco Muntoni
Publikováno v:
The Journal of Clinical Investigation, Vol 132, Iss 21 (2022)
Spinal muscular atrophy (SMA) is a neuromuscular disorder due to degeneration of spinal cord motor neurons caused by deficiency of the ubiquitously expressed SMN protein. Here, we present a retinal vascular defect in patients, recapitulated in SMA tr
Externí odkaz:
https://doaj.org/article/7bf2c0654d0b499f9112525f28926aef
Autor:
Maria Luisa Bianchi, Silvia Vai, Giovanni Baranello, Francesca Broggi, Stefan Judex, Thomas Hangartner, Clinton Rubin
Publikováno v:
JBMR Plus, Vol 6, Iss 11, Pp n/a-n/a (2022)
ABSTRACT The ability of low‐intensity vibration (LIV) to combat skeletal decline in Duchenne Muscular Dystrophy (DMD) was evaluated in a randomized controlled trial. Twenty DMD boys were enrolled, all ambulant and treated with glucocorticoids (mean
Externí odkaz:
https://doaj.org/article/5ca79a7edf96440483b3db8f089f0c73
Autor:
Ramona De Amicis, Giovanni Baranello, Andrea Foppiani, Alessandro Leone, Alberto Battezzati, Giorgio Bedogni, Simone Ravella, Ester Giaquinto, Chiara Mastella, Caterina Agosto, Enrico Bertini, Adele D’Amico, Marina Pedemonte, Claudio Bruno, Jonathan C. Wells, Mary Fewtrell, Simona Bertoli
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021)
Abstract Background Spinal muscular atrophy (SMA) is a neuromuscular disorder characterized by muscle atrophy and weakness. SMA type 1 (SMA1) is the most severe form: affected infants are unable to sit unaided; SMA type 2 (SMA2) children can sit, but
Externí odkaz:
https://doaj.org/article/41b783aa337d4b5a8b11d358042b5540
Autor:
Laia Brunet Garcia, Ankita Hajra, Ella Field, Joseph Wacher, Helen Walsh, Gabrielle Norrish, Adnan Manzur, Francesco Muntoni, Pinki Munot, Stephanie Robb, Rosaline Quinlivan, Mariacristina Scoto, Giovanni Baranello, Anna Sarkozy, Luke Starling, Juan Pablo Kaski, Elena Cervi
Publikováno v:
Frontiers in Pediatrics, Vol 10 (2022)
Myotonic dystrophy type 1 (DM1) is the most prevalent inherited neuromuscular dystrophy in adults. It is a multisystem disease with cardiac manifestations. Whilst these are well-defined in adults, there are scarce published data in the pediatric popu
Externí odkaz:
https://doaj.org/article/3fb4b718270d4f3b9aae0d632cd63a13
Autor:
Grazia Zappa, Antonella LoMauro, Giovanni Baranello, Emilia Cavallo, Priscilla Corti, Chiara Mastella, Maria Antonella Costantino
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 13, Iss 1, Pp 1-11 (2021)
Abstract Background Spinal muscular atrophy (SMA) is a chronic, neuromuscular disease characterized by degeneration of spinal cord motor neurons, resulting in progressive muscular atrophy and weakness. SMA1 is the most severe form characterized by si
Externí odkaz:
https://doaj.org/article/713cf421a36d4994bdac0a10e5c3ef73
Autor:
Luca Bello, Grazia D’Angelo, Matteo Villa, Aurora Fusto, Sara Vianello, Beatrice Merlo, Daniele Sabbatini, Andrea Barp, Sandra Gandossini, Francesca Magri, Giacomo P. Comi, Marina Pedemonte, Paola Tacchetti, Valentina Lanzillotta, Federica Trucco, Adele D’Amico, Enrico Bertini, Guja Astrea, Luisa Politano, Riccardo Masson, Giovanni Baranello, Emilio Albamonte, Elisa De Mattia, Fabrizio Rao, Valeria A. Sansone, Stefano Previtali, Sonia Messina, Gian Luca Vita, Angela Berardinelli, Tiziana Mongini, Antonella Pini, Marika Pane, Eugenio Mercuri, Andrea Vianello, Claudio Bruno, Eric P. Hoffman, Lauren Morgenroth, Heather Gordish‐Dressman, Craig M. McDonald, CINRG‐DNHS Investigators, Elena Pegoraro
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 7, Iss 5, Pp 786-798 (2020)
Abstract Objective Respiratory insufficiency is a major complication of Duchenne muscular dystrophy (DMD). Its progression shows considerable interindividual variability, which has been less thoroughly characterized and understood than in skeletal mu
Externí odkaz:
https://doaj.org/article/4d295546ee074e24abccab17a1bf8041