Ambulatory function in spinal muscular atrophy: Age-related patterns of progression.

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

Nusinersen in pediatric and adult patients with type III spinal muscular atrophy

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

Nusinersen in pediatric and adult patients with type III spinal muscular atrophy

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)

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce733bf025ec593e1d29dfd1172ba332
http://europepmc.org/articles/PMC8351459

Clinical Variability in Spinal Muscular Atrophy Type III

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

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7eff96e16ed9ca4d83cccff947b5eec
https://doi.org/10.1002/ana.25900

Revised upper limb module in type II and III spinal muscular atrophy: 24-month changes

Autor: Valeria A. Sansone, Matthew Civitello, Mariacristina Scoto, Adele D'Amico, Emilio Albamonte, Irene Mizzoni, Anna Lia Frongia, Maria Carmela Pera, Basil T. Darras, John W. Day, Amy Pasternak, Francesca Bovis, Sally Dunaway Young, Giorgia Coratti, Laura Antonaci, Eugenio Mercuri, Maria Sframeli, Tina Duong, Claudio Bruno, Annemarie Rohwer, Jacqueline Montes, Richard S. Finkel, Marika Pane, Darryl C. De Vivo, Enrico Bertini, Giovanni Baranello, Evelin Milev, Roberto De Sanctis, Francesco Muntoni, Sonia Messina, Allan M. Glanzman, Elena S. Mazzone, Massimo Russo

The aim of the study was to establish 24-month changes in a large cohort of type II and III spinal muscular atrophy (SMA) patients assessed with the Revised Upper Limb Module (RULM), a tool specifically developed to assess upper limb function in SMA.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::862b23e9e6b08e24fee4b1754d6d00fc
http://hdl.handle.net/10807/197786