Results 41 to 50 of about 7,657 (243)

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

SMN deficiency in severe models of spinal muscular atrophy causes widespread intron retention and DNA damage [PDF]

, 2017
Spinal muscular atrophy (SMA), an autosomal recessive neuromuscular disease, is the leading monogenic cause of infant mortality. Homozygous loss of the gene survival of motor neuron 1 (SMN1) causes the selective degeneration of lower motor neurons and ...
Allaire, N., Bennett, C. F., Carulli, J. P., Chiao, E., Cullen, P., Fleet, C., Gupta, S. V., Hurt, J. A., Jangi, M., Krainer, A. R., Mekhoubad, S., Rigo, F., Staropoli, J. F.   +12 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

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

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

Increased chitotriosidase 1 concentration following nusinersen treatment in spinal muscular atrophy

Orphanet Journal of Rare Diseases, 2021
Background Studies regarding the impact of (neuro)inflammation and inflammatory response following repetitive, intrathecally administered antisense oligonucleotides (ASO) in 5q-associated spinal muscular atrophy (SMA) are sparse.
Maren Freigang, Petra Steinacker, Claudia Diana Wurster, Olivia Schreiber-Katz, Alma Osmanovic, Susanne Petri, Jan Christoph Koch, Kevin Rostásy, Björn Falkenburger, Albert Christian Ludolph, Markus Otto, Andreas Hermann, René Günther   +12 more
doaj   +1 more source

Quality of Life Outcomes According to Differential Nusinersen Exposure in Pediatric Spinal Muscular Atrophy

Children, 2021
The purpose of this study was to explore early changes in patient and family caregiver report of quality of life and family impact during the transitional period of nusinersen use.
Meaghann S. Weaver, Alice Yuroff, Sarah Sund, Scott Hetzel, Matthew A. Halanski   +4 more
doaj   +1 more source

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

Multi-omics profiling in spinal muscular atrophy (SMA): investigating lipid and metabolic alterations through longitudinal CSF analysis of Nusinersen-treated patients

Journal of Neurology
Spinal muscular atrophy (SMA) is a rare neuromuscular disease caused by biallelic mutations in the SMN1 gene, leading to progressive muscle weakness due to degeneration of the anterior horn cells.
M. Zandl-Lang, Thomas Züllig, Michael Holzer, Thomas O. Eichmann, Barbara Darnhofer, Annette Schwerin-Nagel, Joachim Zobel, H. Haidl, A. Biebl, Harald C. Köfeler, B. Plecko   +10 more
semanticscholar   +1 more source

Onasemnogene Abeparvovec in Type I Spinal Muscular Atrophy: 24‐Month Follow‐Up From the Italian Registry

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Onasemnogene abeparvovec (OA) is an AAV9‐based gene therapy for spinal muscular atrophy type I (SMA I). Real‐world outcomes show increased response variability compared to clinical trials, and follow‐up data beyond 12–18 months are limited.
Marika Pane, Giorgia Coratti, Chiara Cutrì, Antonio Varone, Riccardo Masson, Adele D'Amico, Valeria Sansone, Sonia Messina, Federica Ricci, Chiara Ticci, Claudio Bruno, Caterina Agosto, Francesca Benedetti, Antonella Pini, Sabrina Siliquini, Massimiliano Filosto, Alberto Zambon, Ilaria Bitetti, Maria Rosaria Manna, Claudia Dosi, Riccardo Zanin, Stefano Parravicini, Roberto De Sanctis, Giulia Stanca, Michela Catteruccia, Michele Tosi, Irene Mizzoni, Emilio Albamonte, Valentina Franchino, Maria Sframeli, Ilaria Cavallina, Elena Procopio, Michele Sacchini, Simone Morando, Noemi Brolatti, Federica Trucco, Gaia Scarpini, Elena Briganti, Beatrice Berti, Concetta Palermo, Daniela Leone, Stefano C. Previtali, Eugenio Mercuri, the ITASMAC working group   +43 more
wiley   +1 more source