Results 81 to 90 of about 7,657 (243)

Cognitive and neurodevelopmental disorders in spinal muscular atrophy type I at the time of disease‐modifying therapies

Developmental Medicine &Child Neurology, EarlyView.
Abstract After treatment with new disease‐modifying therapies, cognitive and neurodevelopmental aspects have been observed in individuals with spinal muscular atrophy (SMA). Emerging evidence suggests that children with SMA type 1 may experience cognitive, language, and behavioural delays, with reported rates of neurodevelopmental difficulties ranging ...
Giorgia Coratti, Bianca Buchignani, Eugenio Mercuri   +2 more
wiley   +1 more source

Advances in the delivery of RNA therapeutics: from concept to clinical reality [PDF]

, 2017
- The rapid expansion of the available genomic data continues to greatly impact biomedical science and medicine. Fulfilling the clinical potential of genetic discoveries requires the development of therapeutics that can specifically modulate the ...
Anderson, Daniel Griffith, Kaczmarek, James Cliff, Kowalski, Piotr S   +2 more
core   +1 more source

Autism spectrum disorder in children with spinal muscular atrophy type 1: Case series

Developmental Medicine &Child Neurology, EarlyView.
Autism spectrum disorder (ASD) was identified in 37.5% of children with SMA (n = 13). While IQ did not differ significantly between groups, adaptive functioning was reduced in those with co‐occurring ASD. Results support routine early neurodevelopmental screening in children with spinal muscular atrophy.
Lorena V. Rezende, Adriana B. Ortega, Daniel A. Do Valle, Tiago S. Bara, Mara L. Cordeiro   +4 more
wiley   +1 more source

Comprehensive Clinical Evaluation of Nusinersen Based on Multi-criteria Decision Analysis Method

Xiehe Yixue Zazhi
ObjectiveTo provide a theoretical basis for different drug decision-making scenarios by conducting a comprehensive clinical evaluation of nusinersen.MethodsBased on the method of multi-criteria decision analysis, a comprehensive clinical evaluation index
QU Jinghan, LIU Xin, TIAN Xin, AN Pengjiao, XU Tingting, ZHANG Bo   +5 more
doaj   +1 more source

RNA-sequencing of a mouse-model of spinal muscular atrophy reveals tissue-wide changes in splicing of U12-dependent introns [PDF]

, 2016
Spinal Muscular Atrophy (SMA) is a neuromuscular disorder caused by insufficient levels of the Survival of Motor Neuron (SMN) protein. SMN is expressed ubiquitously and functions in RNA processing pathways that include trafficking of mRNA and assembly of
Andersen, H. S., Andresen, B. S., Broner, S., Bruun, G. H., Dembic, M., Doktor, T. K., Hua, Y., Krainer, A. R., Liu, Y. H., Wieckowska, A.   +9 more
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

Ethics and equity in access to disease‐modifying therapies and newborn screening for spinal muscular atrophy: A scoping review

Developmental Medicine &Child Neurology, EarlyView.
Outcomes of children with cerebral palsy receiving long‐term respiratory support. Aim To review barriers to ethical and equitable access to disease‐modifying therapies (DMTs) and newborn screening (NBS) for spinal muscular atrophy (SMA). Method We searched PubMed, Scopus, Web of Science, EBSCOhost, the Cochrane Library, Google Scholar, and Primo for ...
Serini Murugasen, Mariana Kruger, Marc Blockman, Jo M. Wilmshurst   +3 more
wiley   +1 more source

Evaluation of inpatient and emergency department healthcare resource utilization and costs pre- and post-nusinersen for the treatment of spinal muscular atrophy using United States claims

Journal of Comparative Effectiveness Research
Aim: Nusinersen, administered by intrathecal injection at a dose of 12 mg, is indicated across all ages for the treatment of spinal muscular atrophy (SMA).
Cong Zhu, Craig Zaidman, Bora Youn, Angela D Paradis, Stephanie Raynaud, Bridget A Neville, Nicole B Johnson   +6 more
doaj   +1 more source

Increasing agrin function antagonizes muscle atrophy and motor impairment in spinal muscular atrophy [PDF]

, 2018
Spinal muscular atrophy (SMA) is a pediatric genetic disease, characterized by motor neuron (MN) death, leading to progressive muscle weakness, respiratory failure, and, in the most severe cases, to death. Abnormalities at the neuromuscular junction (NMJ)
Alessandro Vercelli, Alessandro Vercelli, Elena De Amicis, Marco Trevisan, Marina Boido, Markus A. Ruegg, Stefan Hettwer, Ugo Ala, Valeria Valsecchi   +8 more
core   +4 more sources

The Illness Narratives of Children and Young People With Spinal Muscular Atrophy: A Scoping Review

Journal of Advanced Nursing, EarlyView.
ABSTRACT Aim(s) This review seeks to explore the illness narratives of children and young people focusing on their healthcare trajectories; the right to health; and the kind of stories told about them. Design This scoping review adopts a narrative approach to analyse how the illness experience of Spinal Muscular Atrophy is represented in the literature,
Marcela González‐Agüero, Constanza Quezada, Valentina Turén, Josefa Camelio, Martina De Filippi, Caroline Bradbury‐Jones, Julie Taylor   +6 more
wiley   +1 more source