Results 91 to 100 of about 4,580 (188)

SPİNAL MUSKÜLER ATROFİDE NUSİNERSEN TEDAVİSİ: TEK MERKEZ DENEYİMİ

GİRİŞ: Spinal musküler atrofi (SMA), ilerleyici kas güçsüzlüğüne neden olan otozomal resesif geçişli nöromusküler bir hastalıktır. Nusinersen, SMN2 pre mRNA uç birleştirmesinde etkili ve SMN protein miktarını arttırmaya yönelik bir antisens ...
Sarılar, Ayşe Çağlar, Benli, Şeyma
core   +1 more source

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

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   +1 more source

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

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   +1 more source

Protocol Adherence in Spinal Muscular Atrophy Treated with Nusinersen and Risdiplam: A Retrospective Registry-Based Pharmacoclinical Audit

Recent Trends in Pharmacology
Objective: Disease-modifying therapies such as nusinersen and risdiplam have significantly changed the management of spinal muscular atrophy (SMA). In Spain, both are reimbursed under a national pharmacoclinical protocol with registry-based monitoring ...
Roberto Lozano, Carina Bona
doaj   +1 more source

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

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   +1 more source

Transitioning From Nusinersen to Risdiplam for Spinal Muscular Atrophy in Clinical Practice: A Single-Center Experience

BackgroundNusinersen and risdiplam are U.S. Food and Drug Administration (FDA)-approved treatments for spinal muscular atrophy (SMA). No head-to-head clinical trials to assess efficacy exist. Observational studies are needed to determine if transitioning
Paul, Grace, Noritz, Garey, Lowes, Linda P., Gushue, Courtney, KURT, CAN EBRU, Mackenzie, Samuel J., Alfano, Lindsay N., Kotha, Kavitha, Reash, Natalie, Connolly, Anne M., Iammarino, Megan, Subramanian, Sharmada, Tsao, Chang-Yong, Shell, Richard, Waldrop, Megan A., Richardson, Carson, Chagat, Shannon   +16 more
core   +1 more source

Managing nusinersen therapy during pregnancy in spinal muscular atrophy type 3

Spinal muscular atrophy (SMA) is a neuromuscular disorder caused by SMN1 gene mutations. The introduction of disease-modifying therapies such as nusinersen has improved survival and functional outcomes allowing more patients to reach reproductive age ...
Doreen Ho, Caitlin Thomas, Regina Laine, Leillani L Ha, Christiano R R Alves, Kiersten Pease, Sydney Hall, Marti Soffer, Leslie Hayes, Amy Ellrodt, Kendall Carney   +10 more
core   +1 more source

Development, validation and application ofan ion-pair reversed-phase liquidchromatography-tandem massspectrometry method for the quantificationof nusinersen: supplementary materials

Background: The fully phosphorothioate-modified oligonucleotide (OGN) nusinersen has low ionizationefficiency in the negative ion mode, resulting in a low mass spectrometry response. There havebeen no relevant reports on developing a LC–MS method for the
Xiao Zhang (152326), Chunjie Sha (9962796), Wei Zhang (405), Wanhui Liu (532948), Fengjuan Zhao (17939810), Mingli Zhu (1460185), Guangyi Leng (15308794)   +6 more
core   +1 more source

Nusinersen for spinal muscular atrophy [PDF]

Therapeutic Advances in Neurological Disorders, 2018
Claudia D. Wurster, Albert C. Ludolph
openaire   +3 more sources

Spinal muscular atrophy: Biology, pathogenesis, and therapeutic advances. [PDF]

Ther Adv Neurol Disord
René CA, Parks RJ.
europepmc   +1 more source