Zobrazeno 1 - 10
of 346
pro vyhledávání: '"Basil T. Darras"'
Autor:
Thomas O. Crawford, John W. Day, Darryl C. De Vivo, Jena M. Krueger, Eugenio Mercuri, Andres Nascimento, Amy Pasternak, Elena Stacy Mazzone, Tina Duong, Guochen Song, Jing L. Marantz, Scott Baver, Dongzi Yu, Lan Liu, Basil T. Darras
Publikováno v:
Frontiers in Neurology, Vol 15 (2024)
Background and purposeAt 12 months in the phase 2 TOPAZ study, treatment with apitegromab was associated with both an improved motor function in patients with Type 2 or 3 spinal muscular atrophy (SMA) and with a favorable safety profile. This manuscr
Externí odkaz:
https://doaj.org/article/463093cc41344076b301b431a80c1691
Autor:
Robert J. Graham, Basil T. Darras, Tmirah Haselkorn, Dan Fisher, Casie A. Genetti, Weston Miller, Alan H. Beggs
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-11 (2023)
Abstract Background X-linked myotubular myopathy (XLMTM) is a rare, life-threatening congenital myopathy with multisystem involvement, often requiring invasive ventilator support, gastrostomy tube feeding, and wheelchair use. Understanding healthcare
Externí odkaz:
https://doaj.org/article/82db351dd5ee4433a8ec27539c7b295f
Autor:
Elizabeth R. Harding, Cara H. Kanner, Amy Pasternak, Allan M. Glanzman, Sally Dunaway Young, Ashwini K. Rao, Michael P. McDermott, Zarazuela Zolkipli-Cunningham, John W. Day, Richard S. Finkel, Basil T. Darras, Darryl C. De Vivo, Jacqueline Montes
Publikováno v:
Journal of Clinical Medicine, Vol 13, Iss 9, p 2634 (2024)
Background: The natural history of spinal muscular atrophy (SMA) is well understood, with progressive muscle weakness resulting in declines in function. The development of contractures is common and negatively impacts function. Clinically, joint hype
Externí odkaz:
https://doaj.org/article/ec40fa1748d2427183e46ccf919ad669
Autor:
Christine C. Bruels, Hannah R. Littel, Audrey L. Daugherty, Seth Stafki, Elicia A. Estrella, Emily S. McGaughy, Don Truong, Jonathan P. Badalamenti, Lynn Pais, Vijay S. Ganesh, Anne O'Donnell‐Luria, Heather J. Stalker, Yang Wang, Christin Collins, Andrea Behlmann, Richard J. L. F. Lemmers, Silvère M. van derMaarel, Regina Laine, Partha S. Ghosh, Basil T. Darras, Carla D. Zingariello, Christina A. Pacak, Louis M. Kunkel, Peter B. Kang
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 9, Iss 8, Pp 1302-1309 (2022)
Abstract Many individuals with muscular dystrophies remain genetically undiagnosed despite clinical diagnostic testing, including exome sequencing. Some may harbor previously undetected structural variants (SVs) or cryptic splice sites. We enrolled 1
Externí odkaz:
https://doaj.org/article/9c66bfaff84f41c59607be77930bfc87
Autor:
Claude Cances, Dmitry Vlodavets, Giacomo Pietro Comi, Riccardo Masson, Maria Mazurkiewicz-Bełdzińska, Kayoko Saito, Edmar Zanoteli, Angela Dodman, Muna El-Khairi, Ksenija Gorni, Isaac Gravestock, Janine Hoffart, Renata S. Scalco, Basil T. Darras, the ANCHOVY Working Group
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-11 (2022)
Abstract Background ANCHOVY was a global, multicenter, chart-review study that aimed to describe the natural history of Type 1 spinal muscular atrophy (SMA) from a broad geographical area and provide further contextualization of results from the FIRE
Externí odkaz:
https://doaj.org/article/7dcf9fd5800e4a74826a8e62d503f985
Autor:
Eulàlia Rovira-Moreno, Anna Abulí, Patricia Muñoz-Cabello, Marta Codina-Solà, Eva Baillès, Mencía de Lemus, Basil T. Darras, Eduardo F. Tizzano
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100825- (2023)
Spinal muscular atrophy (SMA) is a prevalent severe genetic condition that follows an autosomal recessive inheritance pattern. Over the last decade, advances in innovative therapies have improved the course of the disease for many patients. There is
Externí odkaz:
https://doaj.org/article/f8742aa22bde4db0a7bae2b364dd1ee9
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:
Sally Dunaway Young, Jacqueline Montes, Allan M. Glanzman, Richard Gee, John W. Day, Richard S. Finkel, Basil T. Darras, Darryl C. De Vivo, Giulia Gambino, Richard Foster, Janice Wong, Steve Garafalo, Zdenek Berger
Publikováno v:
Journal of Clinical Medicine, Vol 12, Iss 15, p 4901 (2023)
Nusinersen has been shown to improve or stabilize motor function in individuals with spinal muscular atrophy (SMA). We evaluated baseline scoliosis severity and motor function in nusinersen-treated non-ambulatory children with later-onset SMA. Post h
Externí odkaz:
https://doaj.org/article/63f2d17ec03a4beca92d3e9726a2a927
Autor:
Georgia Stimpson, Danielle Ramsey, Amy Wolfe, Anna Mayhew, Mariacristina Scoto, Giovanni Baranello, Robert Muni Lofra, Marion Main, Evelin Milev, Giorgia Coratti, Marika Pane, Valeria Sansone, Adele D’Amico, Enrico Bertini, Sonia Messina, Claudio Bruno, Emilio Albamonte, Elena Stacy Mazzone, Jacqueline Montes, Allan M. Glanzman, Zarazuela Zolkipli-Cunningham, Amy Pasternak, Tina Duong, Sally Dunaway Young, Matthew Civitello, Chiara Marini-Bettolo, John W. Day, Basil T. Darras, Darryl C. De Vivo, Richard S. Finkel, Eugenio Mercuri, Francesco Muntoni
Publikováno v:
Journal of Clinical Medicine, Vol 12, Iss 5, p 1920 (2023)
The Revised Hammersmith Scale (RHS) is a 36-item ordinal scale developed using clinical expertise and sound psychometrics to investigate motor function in participants with Spinal Muscular Atrophy (SMA). In this study, we investigate median change in
Externí odkaz:
https://doaj.org/article/6627d452f8534ca9a909127dd9074e1b
Autor:
Eugenio Mercuri, Simona Lucibello, Marco Perulli, Giorgia Coratti, Roberto de Sanctis, Maria Carmela Pera, Marika Pane, Jacqueline Montes, Darryl C. de Vivo, Basil T. Darras, Stephen J. Kolb, Richard S. Finkel
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-7 (2020)
Abstract Background The advent of new therapies in spinal muscular atrophy (SMA) has highlighted the need to have natural history data for comparison. Natural history studies using structured assessments in type I however are very limited. We identif
Externí odkaz:
https://doaj.org/article/16a5f223b95a41ae9a03dda5c91d43da