Results 81 to 90 of about 7,965 (282)

Gapmer Antisense Oligonucleotides Suppress the Mutant Allele of COL6A3 and Restore Functional Protein in Ullrich Muscular Dystrophy [PDF]

, 2017
Dominant-negative mutations in the genes that encode the three major a chains of collagen type VI, COL6A1, COL6A2, and COL6A3, account for more than 50% of Ullrich congenital muscular dystrophy patients and nearly all Bethlem myopathy patients ...
Ala, P, Marrosu, E, Muntoni, F, Zhou, H
core   +2 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

Combination disease-modifying treatment in spinal muscular atrophy: A proposed classification [PDF]

, 2023
Spinal muscular atrophyAtròfia muscular espinalAtrofia muscular espinalWe sought to devise a rational, systematic approach for defining/grouping survival motor neuron-targeted disease-modifying treatment (DMT) scenarios.
De Vivo, Darryl, Finkel, Richard, Kirschner, Janbernd, Mercuri, Eugenio, Muntoni, Francesco, Proud, Crystal M., TIZZANO, EDUARDO F.   +6 more
core   +4 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

Unilateral interlaminar fenestration on the convex side provides a reliable access for intrathecal administration of nusinersen in spinal muscular atrophy: a retrospective study

Orphanet Journal of Rare Diseases, 2023
Background As the first gene therapy for spinal muscular atrophy (SMA), nusinersen is supposed to be administrated via intrathecal injection regularly for a lifetime.
Zhen Wang, Erwei Feng, Yang Jiao, Junduo Zhao, Xin Chen, Haozhi Zhang, Jinqian Liang, Zheng Li, Xulei Cui, Weiyun Chen, Jianxiong Shen   +10 more
doaj   +1 more source

Evolution of bulbar function in spinal muscular atrophy type 1 treated with nusinersen [PDF]

, 2022
Aim: To assess the evolution of bulbar function in nusinersen-treated spinal muscular atrophy type 1 (SMA1). Method: This single-centre retrospective study identified 24 patients (14 females and 10 males) with SMA1, treated with nusinersen between 2017 ...
Baranello, Giovanni, Conway, Eleanor, Johnson, Emily, Muntoni, Francesco, Scoto, Mariacristina, Stewart, Alexandra, Stimpson, Georgia, Thomas, Lily, Weststrate, Harriet   +8 more
core   +1 more source

Nusinersen Wearing-Off in Adult 5q-Spinal Muscular Atrophy Patients

Brain Sciences, 2021
The antisense oligonucleotide nusinersen was the first drug treatment available for all types of 5q-spinal muscular atrophy (SMA). The dosing regime has been derived from pivotal clinical trials in infants and children.
Alma Osmanovic, Olivia Schreiber-Katz, Susanne Petri   +2 more
doaj   +1 more source

Cost effectiveness of nusinersen for patients with infantile-onset spinal muscular atrophy in US [PDF]

, 2020
Background Patients with infantile-onset spinal muscular atrophy (SMA), a rare, genetic neuromuscular disease, do not achieve key motor function milestones (e.g., sitting) and have short life expectancy in the absence of treatment.
Alexandra G. Ellis, C Lally, CH Wang, D Castro, E Mercuri, E Mercuri, E Mercuri, IEC Verhaart, JR Mendell, Matt Stevenson, NICE, P Guyot, P Tappenden, PB Shieh, Praveen Thokala, R Thompson, Richard H. Chapman, RS Finkel, RS Finkel, RS Finkel, S Zuluaga-Sanchez, Shijie Ren, Varun M. Kumar   +22 more
core   +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

Cost-effectiveness analysis of using onasemnogene abeparvocec (AVXS-101) in spinal muscular atrophy type 1 patients

Journal of Market Access & Health Policy, 2019
Background: Spinal muscular atrophy type 1 (SMA1) is a devastating genetic disease for which gene-replacement therapy may bring substantial survival and quality of life benefits.
Daniel C. Malone, Rebecca Dean, Ramesh Arjunji, Ivar Jensen, Phil Cyr, Beckley Miller, Benit Maru, Douglas M. Sproule, Douglas E. Feltner, Omar Dabbous   +9 more
doaj   +1 more source