Zobrazeno 1 - 10
of 139
pro vyhledávání: '"Mariacristina, Scoto"'
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:
Irina T. Zaharieva, Mariacristina Scoto, Karolina Aragon‐Gawinska, Deborah Ridout, Bruno Doreste, Laurent Servais, Francesco Muntoni, Haiyan Zhou
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 9, Iss 7, Pp 1011-1026 (2022)
Abstract Objective Spinal muscular atrophy (SMA) is a common genetic cause of infant mortality. Nusinersen treatment ameliorates the clinical outcome of SMA, however, some patients respond well, while others have limited response. We investigated mic
Externí odkaz:
https://doaj.org/article/25ab80b6bfc14c54bc1d6bd5ae1ab5ca
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:
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 Carmela Pera, Giorgia Coratti, Francesca Bovis, Marika Pane, Amy Pasternak, Jacqueline Montes, Valeria A. Sansone, Sally Dunaway Young, Tina Duong, Sonia Messina, Irene Mizzoni, Adele D’Amico, Matthew Civitello, Allan M. Glanzman, Claudio Bruno, Francesca Salmin, Simone Morando, Roberto De Sanctis, Maria Sframeli, Laura Antonaci, Anna Lia Frongia, Annemarie Rohwer, Mariacristina Scoto, Darryl C. De Vivo, Basil T. Darras, John Day, William Martens, Katia A. Patanella, Enrico Bertini, Francesco Muntoni, Richard Finkel, Eugenio Mercuri, the iSMAC group
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 8, Iss 8, Pp 1622-1634 (2021)
Abstract Objective We report longitudinal data from 144 type III SMA pediatric and adult patients treated with nusinersen as part of an international effort. Methods Patients were assessed using Hammersmith Functional Motor Scale Expanded (HFMSE), Re
Externí odkaz:
https://doaj.org/article/934d5becf2b645da80440f5df9f6f4de
Autor:
Charlotte Spicer, Ching‐Hua Lu, Francesco Catapano, Mariacristina Scoto, Irina Zaharieva, Andrea Malaspina, Jennifer E. Morgan, Linda Greensmith, Francesco Muntoni, Haiyan Zhou
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 8, Iss 4, Pp 866-876 (2021)
Abstract Objectives To investigate the levels of neurofilaments (NFs) in transgenic mice and patients with spinal muscular atrophy (SMA), and to evaluate their efficacy as a biomarker in SMA. Methods The levels of NF mRNA transcripts were measured by
Externí odkaz:
https://doaj.org/article/a17fa681b1774cb0a695e1e759c2ff6f
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:
Robert Muni-Lofra, Lindsay B. Murphy, Kate Adcock, Maria E. Farrugia, Joseph Irwin, James B. Lilleker, John McConville, Andria Merrison, Matt Parton, Liz Ryburn, Mariacristina Scoto, Chiara Marini-Bettolo, Anna Mayhew
Publikováno v:
Frontiers in Neurology, Vol 13 (2022)
Spinal Muscular Atrophy (SMA) is characterized by muscle atrophy and weakness and has an incidence of 1:11. 000 live births which projects an estimated population in the UK of 650–1,300 affected patients. Standards of Care (SoC) were updated in 201
Externí odkaz:
https://doaj.org/article/a9f7abf93e734fd8b66d6c2902924e3d
Autor:
Arpana Silwal, Anna Sarkozy, Mariacristina Scoto, Deborah Ridout, Anne Schmidt, Aidan Laverty, Matilde Henriques, Luigi D'Argenzio, Marion Main, Rachael Mein, Adnan Y Manzur, Francois Abel, Fouad Al‐Ghamdi, Casie A Genetti, Didem Ardicli, Goknur Haliloglu, Haluk Topaloglu, Alan H Beggs, Francesco Muntoni
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 7, Iss 11, Pp 2288-2296 (2020)
Abstract Objective To describe clinical features and disease progression of Selenoprotein N‐related myopathy in a large multicenter cohort of patients. Methods Cross‐sectional multicenter data analysis of 60 patients (53 families) with Selenoprot
Externí odkaz:
https://doaj.org/article/8caf97122a55476785146efefd7434e7
Autor:
Danielle Ramsey, Gita Ramdharry, Mariacristina Scoto, Francesco Muntoni, Amanda Wallace, SMA REACH UK network
Publikováno v:
PLoS ONE, Vol 17, Iss 12, p e0278996 (2022)
The Revised Hammersmith Scale (RHS) for Spinal Muscular Atrophy (SMA) was designed as a psychometrically robust clinical outcome assessment to assess physical abilities of patients with type 2 and 3 SMA. The reliability properties of the RHS have not
Externí odkaz:
https://doaj.org/article/5dde2486335a4cf3ad0774a744c2c014