Results 41 to 50 of about 6,859 (228)

Stellenwert von Nusinersen bestätigt

InFo Neurologie + Psychiatrie
Benedikt Schoser
openaire   +2 more sources

The Expanding Landscape of Alternative Splicing Variation in Human Populations. [PDF]

, 2018
Alternative splicing is a tightly regulated biological process by which the number of gene products for any given gene can be greatly expanded. Genomic variants in splicing regulatory sequences can disrupt splicing and cause disease.
Lin, Lan, Pan, Zhicheng, Park, Eddie, Xing, Yi, Zhang, Zijun   +4 more
core   +1 more source

Cone-beam computed tomography guided nusinersen administrations in adult spinal muscular atrophy patients with challenging access [PDF]

, 2022
BACKGROUND: The challenging anatomic predispositions in adult patients with spinal muscular atrophy (SMA) preclude the conventional lumbar punctures. Consequently, an introduction of alternative method for intrathecal delivery of nusinersen is required ...
Koritnik, Blaž, Kostadinova, Viktorija, Leonardis, Lea, Salapura, Vladka, Snoj, Žiga   +4 more
core   +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

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

Utility of Induced Pluripotent Stem Cells for the Study and Treatment of Genetic Diseases: Focus on Childhood Neurological Disorders [PDF]

, 2016
The study of neurological disorders often presents with significant challenges due to the inaccessibility of human neuronal cells for further investigation.
Barral, S, Kurian, MA
core   +2 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

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

Nusinersen mitigates neuroinflammation in severe spinal muscular atrophy patients

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   +1 more source

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