Zobrazeno 1 - 10
of 55
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:
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:
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
Autor:
John W. Day, Connie Wolford, Michael P. McDermott, Sally Dunaway Young, Zarazuela Zolkipli-Cunningham, Jacinda B. Sampson, Chelsea Macpherson, Tina Duong, William B. Martens, Richard S. Finkel, Max Wintermark, Katharine A. Hagerman, Amy Pasternak, Elizabeth Kichula, Darryl C. De Vivo, Michael Zeineh, Basil T. Darras, Allan M. Glanzman
Publikováno v:
Neurology: Clinical Practice
article-version (Version of Record) 3
article-version (Version of Record) 3
ObjectiveTo determine changes in motor and respiratory function after treatment with nusinersen in adults with spinal muscular atrophy (SMA) during the first two years of commercial availability in the USA.MethodsData were collected prospectively on
Autor:
Claudio Bruno, Gian Luca Vita, Jacqueline Montes, Maria Sframeli, Tina Duong, Valeria Sansone, Annalia Frongia, Mariacristina Scoto, John W. Day, Francesco Muntoni, Giorgia Coratti, Enrico Bertini, Jessica Exposito Escudero, Simona Lucibello, Marika Pane, Sonia Messina, Allan M. Glanzman, Eugenio Mercuri, Roberto De Sanctis, Elena S. Mazzone, Anna Mayhew, Laura Antonaci, Francesca Bovis, Andrés Nascimento Osorio, Matthew Civitello, Sara Carnicella, Rachel Salazar, Richard S. Finkel, Chiara Marini Bettolo, Adele D'Amico, Nathalie Goemans, Robert Muni Lofra, Darryl C. De Vivo, Marleen Van den Hauwe, Maria Carmela Pera, Evelin Milev, Amy Pasternak, Sally Dunaway Young, Emilio Albamonte, Basil T. Darras
Publikováno v:
ANNALS OF NEUROLOGY
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
OBJECTIVE: We report natural history data in a large cohort of 199 patients with spinal muscular atrophy (SMA) type III assessed using the Hammersmith Functional Motor Scale Expanded (HFMSE). The aim of the study was to establish the annual rate and