Results 81 to 90 of about 6,859 (228)

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

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

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

RNA‐Based Therapies for Inherited Metabolic Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Inherited metabolic disorders (IMDs) are a diverse and complex group of genetic conditions resulting from deficiencies in enzymes, transporters, or cofactors. These deficiencies lead to metabolic dysfunction and severe clinical consequences. Despite significant progress in understanding their molecular basis, treatment options remain limited ...
Reddy Sreekanth Vootukuri, Sonam Gurung, Roopkatha Ghosh, Philippa B. Mills, Julien Baruteau, Haiyan Zhou   +5 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

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

Examination of the Peripheral Nervous System in Children With Spinal Muscular Atrophy: A High‐Resolution Ultrasonographic Study

Brain and Behavior, Volume 16, Issue 2, February 2026.
This study aimed to analyze the structure and cross‐sectional area (CSA) of the median nerve in children with spinal muscular atrophy (SMA) and evaluate the usefulness of high‐resolution ultrasound (HRUS) imaging for the monitoring of peripheral nerves in these children.
Janina Wurster, Erin West, Sandro Meier, Noé Phillip Bürke, Lynn Jansen, Philip Julian Broser   +5 more
wiley   +1 more source

Impairment experiences, identity and attitudes towards genetic screening : the views of people with Spinal Muscular Atrophy [PDF]

, 2017
Developments in genetics are rapidly changing the capacity and scope of screening practices. However, people with genetic conditions have been under-represented in the literature exploring their implications.
A Asch, A Gontard Von, A Middleton, A Petersen, B Glaser, C Benjamin, C Cornelis, C Lamb, C Pugh, C Wang, D Skinner, D Wells, E Chen, E Parens, E Watson, F Boardman, F Campbell, Felicity K. Boardman, Frances E. Griffiths, GB Willis, H Hahn, H Ho, J Jeppesen, J Malek, JM Green, K Bogart, K Bogart, K Charmaz, K Reed, L Locock, L Pei-Jung, M Allyse, M Bury, M Butchbatch, M Norton, M Peterson, MC Leo, N Watson, P Hauser-Cram, P Wolfe De, Philip J. Young, R Kenen, R Shuttleworth, R Sukenik-Halevy, S Ahmed, S Stern, SD Edwards, T Dragonas, T Shakespeare, TW Prior, V Dubowitz, V Sinason, VL Plano Clark   +52 more
core   +1 more source

Nusinersen ameliorates motor function and prevents motoneuron Cajal body disassembly and abnormal poly(A) RNA distribution in a SMA mouse model [PDF]

, 2020
Spinal muscular atrophy (SMA) is a devastating autosomal recessive neuromuscular disease characterized by degeneration of spinal cord alpha motor neurons (αMNs).
Berciano Blanco, María Teresa, Calderó, Jordi, Lafarga Coscojuela, Miguel Ángel, Medina Mamamé, Almudena, Puente Bedia, Alba, Rodríguez Rey, José Carlos, Tapia Martínez, Olga   +6 more
core   +2 more sources

Progress in RNA‐Targeted Therapeutics for Human Diseases

MedComm, Volume 7, Issue 2, February 2026.
RNA‐targeted therapies are revolutionizing molecular medicine by transitioning from a “protein‐centric” focus to an “RNA‐regulatory network” approach. Leveraging RNA's diverse roles in gene regulation, signaling, and epigenetic modifications, advanced platforms such as ASOs, siRNA, miRNA, mRNA, aptamers, shRNA, and CRISPR/Cas systems are enabling ...
Wangzheqi Zhang, Aimin Jiang, Bin‐Kui Jia, Yuming Jin, Yinghu Chen, Zhaoyu Li, Yan Liao, Haoling Zhang, Zhiheng Lin, Xiao Fang, Linhui Wang   +10 more
wiley   +1 more source