Results 91 to 100 of about 7,776 (285)

Efficacy of Nusinersen Treatment in Type 1, 2, and 3 Spinal Muscular Atrophy: Real-World Data from a Single-Center Study. [PDF]

Neurol Int
Background: Spinal muscular atrophy (SMA) is an inherited neuromuscular disease characterized by progressive muscle weakness and atrophy due to the absence of the survival motor neuron 1 (SMN1) gene.
Lemska A, Ruminski P, Szymarek J, Studzinska S, Mazurkiewicz-Beldzinska M.   +4 more
europepmc   +2 more sources

Clinical impact of splicing in neurodevelopmental disorders. [PDF]

, 2020
Clinical exome sequencing is frequently used to identify gene-disrupting variants in individuals with neurodevelopmental disorders. While splice-disrupting variants are known to contribute to these disorders, clinical interpretation of cryptic splice ...
Farh, Kyle Kai-How, Sanders, Stephan J, Schwartz, Grace B   +2 more
core   +1 more source

Nusinersen therapy changed the natural course of spinal muscular atrophy type 1: What about spine and hip?

Journal of Children's Orthopaedics
Purpose: Spinal muscular atrophy type 1 has a devastating natural course and presents a severe course marked by scoliosis and hip subluxation in nonambulatory patients.
Niyazi Erdem Yaşar, G. Ozdemir, Elif Uzun Ata, M. O. Ayvalı, Naim Ata, M. Ulgu, Ebru Dumlupınar, Şuayıp Birinci, Izzet Bingol, Ş. Bekmez   +9 more
semanticscholar   +1 more source

A Novel Adverse Event of Nusinersen Treatment: Thrombocytosis [PDF]

The Indian Journal of Pediatrics, 2019
[No abstract available]
Nagehan Aslan, Dincer Yildizdas, Yasemin Coban, Ozden Ozgur Horoz, Gulen Gul Mert, Neslihan Ozcan   +5 more
openaire   +3 more sources

Elderly patient with 5q spinal muscular atrophy type 4 markedly improved by Nusinersen [PDF]

, 2020
Available online 17 May 2020.ArticleJournal of the Neurological Sciences.415:116901(2020)journal ...
Morizumi, Teruya, Nakamura, Katsuya, Ozawa, Kazuki, Sekijima, Yoshiki, Takasone, Ken, Ueno, Akihiro, Yoshinaga, Tsuneaki   +6 more
core   +1 more source

Nusinersen effectiveness and safety in pediatric patients with 5q-spinal muscular atrophy: a multi-center disease registry in China

Journal of Neurology
Objective To evaluate the effectiveness and safety of nusinersen for the treatment of 5q-spinal muscular atrophy (SMA) among Chinese pediatric patients.
Xiaoli Yao, Jing Peng, Rong Luo, Xiuxia Wang, Xinguo Lu, Liwen Wu, Ruifeng Jin, Jianmin Zhong, Jianmin Liang, Siqi Hong, Lin Yang, Xiaoli Zhang, Shanshan Mao, Jun Hu, Zhe Tao, Dan Sun, Hua Wang, Li Zhang, Yanyan Xia, Ken Chen, Yi Wang   +20 more
openalex   +2 more sources

Remaining Burden of Spinal Muscular Atrophy Among Treated Patients: A Survey of Patients and Caregivers

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Spinal muscular atrophy (SMA) significantly impacts motor function. This study aimed to assess the persistent burden and unmet needs among currently treated patients with SMA and their caregivers. Methods Two complementary web‐based surveys were distributed in August 2024 among patients with SMA and their caregivers.
Julie A. Parsons, Natalie Land, Melissa Culhane Maravic, Claire Cagle, Amal Jamaleddine, Hemal Shah, Thomas Brown, Christabella Cherubino, Mouhamed Gueye   +8 more
wiley   +1 more source

Nusinersen in SMA 2 and 3 [PDF]

Neurology, 2020
Nusinersen is an antisense oligonucleotide which promotes the expression of full-length SMN protein by modifying the splicing of SMN2 pre-messenger RNA. Nusinersen was approved by FDA in 2016 to be used in all forms of SMA, based on a clinical trial in SMA 1.1 Two years later, a clinical trial in later-onset SMA was published.2 Ability to walk ...
openaire   +4 more sources

Nucleobase-modified antisense oligonucleotides containing 5-(phenyltriazol)-2′-deoxyuridine nucleotides induce exon-skipping:In vitro [PDF]

, 2017
We investigated the potential of nucleobase-modified antisense oligonucleotides to induce exon-skipping, and found that 5-(phenyltriazol)-2′-deoxyuridine-modified antisense oligonucleotides induced efficient exon-skipping in vitro.
Hornum, Mick, Le, Bao T., Nielsen, Poul, Sharma, Pawan K., Veedu, Rakesh N.   +4 more
core   +1 more source

Switching disease‐modifying therapies in patients with spinal muscular atrophy: A systematic review on effectiveness outcomes

British Journal of Clinical Pharmacology, EarlyView.
With multiple disease‐modifying therapies now available, treatment switching has become an important clinical consideration in the management of spinal muscular atrophy (SMA). While some switches are prompted by suboptimal clinical response, more commonly they are driven by treatment burden, convenience, or adverse events.
Andrej Belančić, Elvira Meni Maria Gkrinia, Patrick Eustaquio, Andrea Katrin Faour, Dinko Vitezić   +4 more
wiley   +1 more source