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Spinal muscular atrophy (SMA)
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Publications and studies (1657)
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Motor Unit Number Estimation (MUNE) in Adults With Spinal Muscular Atrophy (SMA) (2026-02-23) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Effects of Whole-body Electrical Muscle Stimulation Exercise on Spinal Motoneuronal Activation in Older Adults (2026-02-17) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A Real-world Study of Disease-modifying Therapy Treatment Outcomes in Patients With Spinal Muscular Atrophy (2026-02-11) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Characterization of New Phenotypes of Patients With Spinal Muscular Atrophy Treated With SMN Restoring Therapy (2026-01-30) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A Study of Dosing Patterns and Costs in Patients With Spinal Muscular Atrophy Receiving Disease Modifying Therapies (2026-01-30) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Pre-Symptomatic Study of Intravenous Onasemnogene Abeparvovec-xioi in Spinal Muscular Atrophy (SMA) for Patients With Multiple Copies of SMN2 (2026-01-26) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Single-Dose Gene Replacement Therapy Clinical Trial for Participants With Spinal Muscular Atrophy Type 1 (2026-01-26) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Gene Replacement Therapy Clinical Trial for Participants With Spinal Muscular Atrophy Type 1 (2026-01-26) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Single-Dose Gene Replacement Therapy Using for Patients With Spinal Muscular Atrophy Type 1 With One or Two SMN2 Copies (2026-01-26) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Study of Intrathecal Administration of Onasemnogene Abeparvovec-xioi for Spinal Muscular Atrophy (2026-01-26) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Self-Efficacy Enhancement Using a Multicomponent Support Group for Caregivers of Children With DMD/SMA (2026-01-22) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Efficacy and Safety of Apitegromab in Patients With Later-Onset Spinal Muscular Atrophy Treated With Nusinersen or Risdiplam (2026-01-22) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Observational Study to Observe Variations of Gait Parameters in Patients With Neuromuscular Diseases (2026-01-20) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Diagnostic Journey, Patient Experience, and Disparities in the Treatment of Spinal Muscular Atrophy (SMA) in the MedStar Health System (2026-01-16) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Neuroproprioceptive Equine-Assisted Physiotherapy for Spinal Muscular Atrophy (2026-01-13) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Phase IIIb, Open-label, Multi-center Study to Evaluate Safety, Tolerability and Efficacy of OAV101 Administered Intrathecally to Participants With SMA Who Discontinued Treatment With Nusinersen or Risdiplam (2026-01-13) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Efficacy and Safety of Intrathecal OAV101 (AVXS-101) in Pediatric Patients With Type 2 Spinal Muscular Atrophy (SMA) (2026-01-13) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Long Read Analysis in Spinal Muscular Atrophy - LOREASI (2026-01-12) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. The Effect of Exoskeletal-assisted Walking Combined With Transcutaneous Spinal Cord Stimulation on Bone Strength. (2026-01-08) ♡
- Circulating Tau Profiles in Pediatric and Adult Patients with Spinal Muscular Atrophy. (2025/12/29) ♡
- Preventing spinal muscular atrophy through the national premarital screening program in Türkiye: an economic comparison with treatment costs. (2025/12/28) ♡
- Effectiveness and safety of Risdiplam for types 1-3 spinal muscular atrophy in a single center. (2025/12/26) ♡
- Global age-related seroprevalence for adeno-associated virus serotype 9 immunoglobulin G. (2025/12/26) ♡
- Detection of inflammation and glial cell-related biomarkers in adults with spinal muscular atrophy receiving nusinersen therapy. (2025/12/25) ♡
- Validation of the Japanese Version of the Muscular Dystrophy Spine Questionnaire in Patients with Flaccid Neuromuscular Scoliosis in Japan. (2025/12/25) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. The Illness Narratives of Children and Young People With Spinal Muscular Atrophy: A Scoping Review. (2025/12/24) ♡
- Body Weight and Range of Motion as Predictors of Trunk Asymmetry in Children With Spinal Muscular Atrophy: A Prospective Functional Assessment. (2025/12/23) ♡
- Carrier screening for multiple complex monogenic diseases using long-read sequencing: a population-based study of premarital couples in Shanghai. (2025/12/22) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Expanding the clinical phenotype of DYNC1H1 -associated mutations: a Chinese family with autosomal dominant complex hereditary spastic paraplegia. (2025/12/22) ♡
- Targeted antisense oligonucleotide treatment rescues developmental alterations in spinal muscular atrophy organoids. (2025/12/21) ♡
- Randomized researchiParticipants were divided into groups by lottery and compared with each other. This reduces the chance that a difference is due to something other than the treatment. Inspiratory muscle training and trunk control exercises on respiratory strength and motor function in spinal muscular atrophy: randomized controlled trial. (2025/12/20) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. 10H-phenothiazine exerts beneficial effects in spinal muscular atrophy in vitro and in vivo models. (2025/12/16) ♡
- Cost-utility analysis of nusinersen-risdiplam switch in patients with spinal muscular atrophy in Croatia: A discrete event simulation model. (2025/12/14) ♡
- Randomized researchiParticipants were divided into groups by lottery and compared with each other. This reduces the chance that a difference is due to something other than the treatment. Testosterone and Long-Pulse-Width Stimulation (TLPS) on Denervated Muscles and Cardio-Metabolic Risk Factors After Spinal Cord Injury: A Pilot Randomized Trial. (2025/12/11) ♡
- Newborn screening for SCID and severe T- and B-cell lymphopenia in Ukraine: the first analysis of the results, 2022-2025. (2025/12/11) ♡
- An acyclic nucleic acid-modified siRNA targeting CAG expansions for polyglutamine disease treatment. (2025/12/11) ♡
- Neuromuscular Electrical Stimulation Combined With Rehabilitation Training Improves Rehabilitation After Spinal Cord Injury. (2025/12/10) ♡
- Dutch rehabilitation physicians' perspectives on contracture management in children with spinal muscular atrophy: challenges in a changing landscape. (2025/12/10) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. [Clinical characteristics and genetic analysis of a patient with Kennedy disease with secondary infertility as the initial symptom]. (2025/12/10) ♡
- Systematic reviewiAll research on one question is searched according to fixed rules and compared side by side, so that no studies with poor outcomes are missed. Safety and effectiveness of risdiplam in adults with spinal muscular atrophy: a systematic review. (2025/12/08) ♡
- Systematic reviewiAll research on one question is searched according to fixed rules and compared side by side, so that no studies with poor outcomes are missed. Economic evaluations of disease-modifying therapies for spinal muscular atrophy: a systematic literature review. (2025/12/05) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Autosomal Dominant TRPV4-Related Disorders. (2025/12/04) ♡
- Dominant spinal muscular atrophy linked mutations in the cargo binding domain of BICD2 result in altered interactomes and dynein hyperactivity. (2025/12/03) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Effects of physical therapy on motor ability in patients with spinal muscular atrophy III: a study protocol for a randomised controlled trial. (2025/12/03) ♡
- Cost-utility analysis of newborn screening for spinal muscular atrophy in Japan. (2025/12/01) ♡
- SMN deficiency inhibits endochondral ossification via promoting TRAF6-induced ubiquitination degradation of YBX1 in spinal muscular atrophy. (2025/12/01) ♡
- Bone Fragility and Fracture Characteristics in Patients With Spinal and Bulbar Muscular Atrophy. (2025/12/01) ♡
- [Duchenne de Boulogne: Pioneer of Neurology]. (2025/12/01) ♡
- [Hiroshi Kawahara: A Founder of Japanese Neurology: The Origin of Neurology in Nagoya]. (2025/12/01) ♡
- Motor Unit Patterns Correlate With Severity in Symptomatic Patients With Spinal Muscular Atrophy. (2025/12/01) ♡
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