Results 1 to 10 of about 6,290 (252)

Nusinersen Induces Disease-Severity-Specific Neurometabolic Effects in Spinal Muscular Atrophy [PDF]

Biomolecules, 2022
Intrathecal delivery of Nusinersen–an antisense oligonucleotide that promotes survival motor neuron (SMN) protein induction–is an approved therapy for spinal muscular atrophy (SMA).
Francesco Errico, Carmen Marino, Manuela Grimaldi, Tommaso Nuzzo, Valentina Bassareo, Valeria Valsecchi, Chiara Panicucci, Elia Di Schiavi, Tommaso Mazza, Claudio Bruno, Adele D’Amico, Manolo Carta, Anna Maria D’Ursi, Enrico Bertini, Livio Pellizzoni, Alessandro Usiello   +15 more
doaj   +6 more sources

Experiences from treating seven adult 5q spinal muscular atrophy patients with Nusinersen [PDF]

Therapeutic Advances in Neurological Disorders, 2020
Background: The antisense oligonucleotide Nusinersen recently became the first approved drug against spinal muscular atrophy (SMA). It was approved for all ages, albeit the clinical trials were conducted exclusively on children.
Elisabeth Jochmann, Robert Steinbach, Thomas Jochmann, Ha-Yeun Chung, Annekathrin Rödiger, Rotraud Neumann, Thomas E. Mayer, Klaus Kirchhof, Dana Loudovici-Krug, Ulrich C. Smolenski, Otto W. Witte, Julian Grosskreutz   +11 more
doaj   +2 more sources

Real-world analysis of the efficacy and safety of nusinersen in pediatric patients with spinal muscular atrophy [PDF]

Orphanet Journal of Rare Diseases
Background Spinal muscular atrophy (SMA) is a rare neurodegenerative disease that significantly affects multiple systems in children. Nusinersen, the first approved treatment for SMA, enhances SMN protein production by targeting the RNA splicing site of ...
Wenjing Li, Qin Zhang, Hongjun Miao, Jin Xu   +3 more
doaj   +2 more sources

Treatment expectations and perception of therapy in adult patients with spinal muscular atrophy receiving nusinersen [PDF]

European Journal of Neurology, 2021
Background and purpose: This was an investigation of treatment expectations and of the perception of therapy in adult patients with 5q-associated spinal muscular atrophy (5q-SMA) receiving nusinersen.
René Günther, Albert C Ludolph, André Maier   +2 more
exaly   +3 more sources

Nusinersen treatment and cerebrospinal fluid neurofilaments: An explorative study on Spinal Muscular Atrophy type 3 patients [PDF]

Journal of Cellular and Molecular Medicine, 2020
The antisense oligonucleotide Nusinersen has been recently licensed to treat spinal muscular atrophy (SMA). Since SMA type 3 is characterized by variable phenotype and milder progression, biomarkers of early treatment response are urgently needed.
Irene Faravelli, Megi Meneri, Daniele Velardo   +2 more
exaly   +3 more sources

Nusinersen mitigates neuroinflammation in severe spinal muscular atrophy patients [PDF]

Communications Medicine, 2023
Nuzzo, Russo, Errico, D’Amico et al. investigate neuroinflammation in forty-eight pediatric spinal muscular atrophy patients before and after Nusinersen treatment.
Tommaso Nuzzo, Rosita Russo, Francesco Errico, Adele D’Amico, Awet G. Tewelde, Mariangela Valletta, Amber Hassan, Michele Tosi, Chiara Panicucci, Claudio Bruno, Enrico Bertini, Angela Chambery, Livio Pellizzoni, Alessandro Usiello   +13 more
doaj   +2 more sources

Administration practices of and adherence to nusinersen in children with spinal muscular atrophy: a multicenter disease registry study in China [PDF]

BMC Pediatrics
Background Nusinersen was the first approved disease modifying therapy (DMT) for spinal muscular atrophy (SMA). Intrathecal administration of nusinersen enables drug delivery directly to the central nervous system, where the motor neurons are located ...
Jing Peng, Xiaoli Yao, Rong Luo, Xiuxia Wang, Liwen Wu, Jianmin Zhong, Ruifeng Jin, Xinguo Lu, Jianmin Liang, Siqi Hong, Lin Yang, Xiaoli Zhang, Shanshan Mao, Zhe Tao, Jun Hu, Dan Sun, Hua Wang, Li Zhang, Yanyan Xia, Ken Chen, Yi Wang   +20 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

Routine Cerebrospinal Fluid Cytology Reveals Unique Inclusions in Macrophages During Treatment With Nusinersen

Frontiers in Neurology, 2019
Background: Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disorder characterized by degeneration of spinal motor neurons leading to muscular weakness.
Stefan Gingele, Martin W Hümmert, Philipp Schwenkenbecher   +2 more
exaly   +3 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