Results 31 to 40 of about 7,965 (282)

Neuronal Pentraxin 2 as a Potential Biomarker for Nusinersen Therapy Response in Adults with Spinal Muscular Atrophy: A Pilot Study [PDF]

Biomedicines
Background: The treatment landscape for spinal muscular atrophy (SMA) has changed significantly with the approval of gene-based therapies such as nusinersen for adults with SMA (pwSMA).
Svenja Neuhoff, Linda-Isabell Schmitt, Kai Christine Liebig, Stefanie Hezel, Nick Isana Tilahun, Christoph Kleinschnitz, Markus Leo, Tim Hagenacker   +7 more
doaj   +2 more sources

Effect of nusinersen on pulmonary function in children with spinal muscular atrophy in the plateau region: A pilot study [PDF]

Heliyon
Background: The drug nusinersen is applied to improve motor function in patients with spinal muscle atrophy (SMA). However, research on the effects of this treatment on lung function is lacking.
Jicai Zhu, Xiaofang Chen, Haoke Sang, Minming Ma, Chunhui Tang   +4 more
doaj   +2 more sources

Nusinersen potentially effective in SMA [PDF]

Nature Reviews Neurology, 2016
Louise Adams
openalex   +3 more sources

Nusinersen Initiation After Onset of Weakness Does Not Prevent Progression of Hip Instability

Journal of pediatric orthopedics
Background: We report changes in the natural history of hip instability with nusinersen treatment among patients with spinal muscular atrophy (SMA) type II after onset of weakness, historically wheelchair-bound but now potentially ambulatory in the era ...
E. Kuong, Hoi Ning Hayley Ip, N. L. So, M. To, Wang Chow, J. Wong, S. Chan   +6 more
semanticscholar   +2 more sources

Successful pregnancy of an SMA type 3 sitter on Nusinersen therapy - a case report [PDF]

BMC Neurology
Background Due to improved treatment options, more SMA patients reach childbearing age. Currently, limited data on pregnant SMA patients is available, especially in relation to disease-modifying therapies (DMT).
Miriam Hiebeler, Simone Thiele, Maggie C. Walter   +2 more
doaj   +2 more sources

Intrathecal administration of nusinersen in adult and adolescent patients with spinal muscular atrophy and scoliosis: Transforaminal versus conventional approach [PDF]

, 2019
Sara Bortolani, G. Stura, Giancarlo Ventilii, Liliana Vercelli, Enrica Rolle, Federica Ricci, Mauro Bergui, Tiziana Mongini   +7 more
openalex   +3 more sources

Quality of Life Assessment in Romanian Patients with Spinal Muscular Atrophy Undergoing Nusinersen Treatment

Neurology International
Spinal muscular atrophy (SMA), identified over a century ago, is characterized by severe muscle wasting and early mortality. Despite its rarity, the high carrier frequency of the responsible genetic mutations and the variability in its manifestations ...
Bogdana Cavaloiu, Iulia-Elena Simina, Lazar Chisavu, Crisanda Vîlciu, Iuliana-Anamaria Trăilă, M. Puiu   +5 more
semanticscholar   +2 more sources

Six‐minute walk test as outcome measure of fatigability in adults with spinal muscular atrophy treated with nusinersen

Muscle and Nerve
Fatigue (subjective perception) and fatigability (objective motor performance worsening) are relevant aspects of disability in individuals with spinal muscular atrophy (SMA).
A. Govoni, Giulia Ricci, S. Bonanno, L. Bello, Francesca Magri, M. Meneri, F. Torri, C. Caponnetto, L. Passamano, M. Grandis, F. Trojsi, Federica Cerri, Giulio Gadaleta, Giuliana Capece, L. Caumo, R. Tanel, Elena Saccani, V. Vacchiano, G. Soraru', E. D’Errico, Irene Tramacere, S. Bortolani, Enrica Rolle, C. Gellera, R. Zanin, Mauro Silvestrini, Luisa Politano, Angelo Schenone, S. Previtali, A. Berardinelli, M. Turri, L. Verriello, M. Coccia, Renato Mantegazza, Rocco Liguori, M. Filosto, M. Maioli, Isabella Laura Simone, T. Mongini, Stefania Corti, M. L. Manca, E. Pegoraro, G. Siciliano, G. Comi, Lorenzo Maggi   +44 more
semanticscholar   +2 more sources

Continued benefit of nusinersen initiated in the presymptomatic stage of spinal muscular atrophy: 5‐year update of the NURTURE study

Muscle and Nerve, 2023
NURTURE (NCT02386553) is an open‐label study of nusinersen in children (two SMN2 copies, n = 15; three SMN2 copies, n = 10) who initiated treatment in the presymptomatic stage of spinal muscular atrophy (SMA).
T. Crawford, K. Swoboda, D. D. De Vivo, E. Bertini, W. Hwu, R. Finkel, J. Kirschner, N. Kuntz, A. Nazario, J. Parsons, A. Pechmann, M. Ryan, R. Butterfield, H. Topaloğlu, T. Ben-Omran, V. Sansone, Y. Jong, Francy Shu, Cong Zhu, Stephanie Raynaud, Tiffany R Lago, A. Paradis, R. Foster, Russell Chin, Z. Berger   +24 more
semanticscholar   +1 more source

Long-term nusinersen treatment across a wide spectrum of spinal muscular atrophy severity: a real-world experience

Orphanet Journal of Rare Diseases, 2023
Background Spinal muscular atrophy (SMA) is an autosomal recessive disorder caused by a biallelic mutation in the SMN1 gene, resulting in progressive muscle weakness and atrophy. Nusinersen is the first disease-modifying drug for all SMA types. We report
A. Łusakowska, Adrianna Wójcik, A. Frączek, Karolina Aragon-Gawińska, A. Potulska-Chromik, Paweł Baranowski, Ryszard Nowak, Grzegorz Rosiak, K. Milczarek, D. Konecki, Zuzanna Gierlak-Wójcicka, Małgorzata Burlewicz, A. Kostera-Pruszczyk   +12 more
semanticscholar   +1 more source