Zobrazeno 1 - 10
of 57
pro vyhledávání: '"Amy, Pasternak"'
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:
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:
Ton T. H. Duong, David Uher, Sally Dunaway Young, Rabia Farooquee, Abigail Druffner, Amy Pasternak, Cara Kanner, Maria Fragala-Pinkham, Jacqueline Montes, Damiano Zanotto
Publikováno v:
IEEE Transactions on Neural Systems and Rehabilitation Engineering, Vol 31, Pp 4801-4811 (2023)
Measuring center-of-pressure (COP) trajectories in out-of-the-lab environments may provide valuable information about changes in gait and balance function related to natural disease progression or treatment in neurological disorders. Traditional equi
Externí odkaz:
https://doaj.org/article/b7b437a78754429fad6b9d077e169928
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-7 (2022)
Abstract Recent advances in technology and expanding therapeutic opportunities in neuromuscular disorders has resulted in greater interest in and development of remote assessments. Over the past year, the rapid and abrupt COVID-19 shutdowns and stay-
Externí odkaz:
https://doaj.org/article/f7a146e47fee4d6c9308b76b4a6b80ae
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:
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:
Sally Dunaway Young, Amy Pasternak, Tina Duong, Katlyn E. McGrattan, Sarah Stranberg, Elizabeth Maczek, Courtney Dias, Whitney Tang, Dana Parker, Alexis Levine, Alyssa Rohan, Connie Wolford, William Martens, Michael P. McDermott, Basil T. Darras, John W. Day
Publikováno v:
Journal of Neuromuscular Diseases. 10:199-209
Background: Novel Spinal Muscular Atrophy (SMA) treatments have demonstrated improvements on motor measures that are clearly distinct from the natural history of progressive decline. Comparable measures are needed to monitor bulbar function, which is
Autor:
Jacqueline Montes, Michael P McDermott, Elizabeth Mirek, Elena S Mazzone, Marion Main, Allan M Glanzman, Tina Duong, Sally Dunaway Young, Rachel Salazar, Amy Pasternak, Richard Gee, Roberto De Sanctis, Giorgia Coratti, Nicola Forcina, Lavinia Fanelli, Danielle Ramsey, Evelin Milev, Matthew Civitello, Marika Pane, Maria Carmela Pera, Mariacristina Scoto, John W Day, Gihan Tennekoon, Richard S Finkel, Basil T Darras, Francesco Muntoni, Darryl C De Vivo, Eugenio Mercuri
Publikováno v:
PLoS ONE, Vol 13, Iss 6, p e0199657 (2018)
Individuals with spinal muscular atrophy (SMA) type 3 are able to walk but they have weakness, gait impairments and fatigue. Our primary study objective was to examine longitudinal changes in the six-minute walk test (6MWT) and to evaluate whether ag
Externí odkaz:
https://doaj.org/article/63a6b75ede644b2e906a74eef9e3db92
Autor:
Sonia Messina, Maria Sframeli, Jacqueline Montes, Simone Morando, John W. Day, Valeria A. Sansone, Matthew Civitello, Laura Antonaci, William B. Martens, Allan M. Glanzman, Enrico Bertini, Annemarie Rohwer, Marika Pane, Eugenio Mercuri, Adele D'Amico, Irene Mizzoni, Claudio Bruno, Katia Patanella, Roberto De Sanctis, Francesco Muntoni, Darryl C. De Vivo, Anna Lia Frongia, Francesca Bovis, Tina Duong, Maria Carmela Pera, Amy Pasternak, Giorgia Coratti, Francesca Salmin, Richard S. Finkel, Mariacristina Scoto, Basil T. Darras, Sally Dunaway Young
Publikováno v:
Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology, Vol 8, Iss 8, Pp 1622-1634 (2021)
Annals of Clinical and Translational Neurology, Vol 8, Iss 8, Pp 1622-1634 (2021)
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), Revised Upp
Autor:
Danielle Ramsey, Mariacristina Scoto, Anna Mayhew, Marion Main, Elena S Mazzone, Jacqueline Montes, Roberto de Sanctis, Sally Dunaway Young, Rachel Salazar, Allan M Glanzman, Amy Pasternak, Janet Quigley, Elizabeth Mirek, Tina Duong, Richard Gee, Matthew Civitello, Gihan Tennekoon, Marika Pane, Maria Carmela Pera, Kate Bushby, John Day, Basil T Darras, Darryl De Vivo, Richard Finkel, Eugenio Mercuri, Francesco Muntoni
Publikováno v:
PLoS ONE, Vol 12, Iss 2, p e0172346 (2017)
Recent translational research developments in Spinal Muscular Atrophy (SMA), outcome measure design and demands from regulatory authorities require that clinical outcome assessments are 'fit for purpose'. An international collaboration (SMA REACH UK,
Externí odkaz:
https://doaj.org/article/805f94649a6e43f7a62082820b419d03