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Spinal muscular atrophy (SMA)
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Publications and studies (1657)
- Development of a new classification for patients with spinal muscular atrophy to predict locomotor and pulmonary function during growth. (2026/07/14) ♡
- Burden of respiratory syncytial virus in spinal muscular atrophy: a retrospective nationwide cross-sectional and birth cohort study. (2026/07/14) ♡
- Short-term and long-term outcomes of transcutaneous spinal cord stimulation in SMA: findings from consecutive courses. (2026/07/13) ♡
- Individual C. elegans neurons display differential sensitivity to smn-1 silencing. (2026/07/13) ♡
- Antisense oligonucleotides treatment uncovers differences in the modulation of dysregulated intracellular pathways in Spinal Muscular Atrophy motoneurons. (2026/07/13) ♡
- Cross-disease LC-MS/MS plasma proteomics identifies reproducible shared and disease-enriched biomarker signatures in neurodegenerative disorders. (2026/07/10) ♡
- Economic analysis of using home mechanical ventilation for children with neuromuscular weakness: the case study from Thailand. (2026/07/08) ♡
- Effect of nusinersen on respiratory function in patients with spinal muscular atrophy: an 18-month single-center prospective study. (2026/07/08) ♡
- Engineering the future of advanced therapy medicinal products: a bioengineering call to action. (2026/07/08) ♡
- Ceftriaxone-Resistant Escherichia coli Sepsis in an Infant With Spinal Muscular Atrophy Type 1 Receiving Risdiplam: A Case Report. (2026/07/07) ♡
- Expanding 5q-SMA Newborn Screening in Latin America: A Brazilian Model for National and Regional Implementation. (2026/07/07) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. UBA1 knockdown dysregulates the levels of UBA1-sensitive proteins and impairs muscle function in Drosophila and mice. (2026/07/06) ♡
- IMU-based workspace area as a promising complementary tool to assess upper limb function in Neuromuscular diseases: A one-year follow-up. (2026/07/06) ♡
- Experiences of families with children diagnosed with spinal muscular atrophy: A qualitative study. (2026/07/06) ♡
- Development of patient-reported outcome for spinal and bulbar muscular atrophy. (2026/07/06) ♡
- Macrophage inclusions in patients undergoing antisense oligonucleotide therapy for ALS or SMA: A retrospective and transversal study. (2026/07/03) ♡
- Validity and Test-Retest Reliability of the Turkish Version of Spinal Muscular Atrophy Independence Scale - Upper Limb Module: A Comparison with Healthy Peers. (2026/07/02) ♡
- Characterisation of the SMN1/2 locus using a highly specific variant caller on whole-genome sequence data from 500,000 individuals. (2026/07/02) ♡
- Limitations in activities of daily living in individuals with spinal muscular atrophy: A scoping review and multidisciplinary recommendations for clinical practice. (2026/07/01) ♡
- 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. Cognitive and neurodevelopmental disorders in spinal muscular atrophy type I at the time of disease-modifying therapies. (2026/07/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Generalized Myasthenia Gravis with Anti-acetylcholine Receptor Antibodies during the Clinical Course of Spinal and Bulbar Muscular Atrophy. (2026/07/01) ♡
- Temperature-induced symptoms in adolescents and adults with spinal muscular atrophy. (2026/07/01) ♡
- New SMA era: A broad-range tiered assessment of function for the evolving SMA phenotype (EVOLVE-SMA). (2026/07/01) ♡
- 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. Spinal muscular atrophy in India: Patient journey, access to care, treatment barriers, and strategic recommendations: Insights from experts. (2026/07/01) ♡
- 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. Muscle-Specific Kinase Signaling and Its Therapeutic Potential. (2026/07/01) ♡
- The prevalence of spinal muscular atrophy in Kazakhstan and the experience with the national nusinersen treatment program. (2026/07/01) ♡
- Multi-Omics Landscape of Paraspinal Muscles in Spinal Muscular Atrophy With Scoliosis. (2026/07/01) ♡
- 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. Safety considerations of gene-based therapies for Alzheimer's disease. (2026/07/01) ♡
- Swallowing assessment in spinal muscular atrophy type 1: a real-world study of dysphagia in children receiving disease-modifying therapies. (2026/07/01) ♡
- A Retrospective Cohort Study of Nutrition Outcomes in Children With Spinal Muscular Atrophy Type 1 and 2 Treated With Disease Modifying Therapies. (2026/07/01) ♡
- Facial Nerve Thinning Correlates With Motor Function in Adults With Spinal Muscular Atrophy. (2026/07/01) ♡
- Reproductive carrier screening among Chinese couples experiencing unexplained recurrent pregnancy loss. (2026/06/30) ♡
- Motor function score changes in severe 5q spinal muscular atrophy during risdiplam treatment: an observational longitudinal nationwide cohort study. (2026/06/30) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Long-term persistence, safety and effectiveness of nusinersen in spinal muscular atrophy: a population-based study. (2026/06/29) ♡
- Understanding the perceptions and experiences of adults with early-onset neuromuscular disorders using noninvasive ventilation in making healthcare decisions. (2026/06/29) ♡
- Correction: Lamadrid-González et al. SMN2 Copy Number Association with Spinal Muscular Atrophy Severity: Insights from Colombian Patients. J. Clin. Med. 2024, 13, 6402. (2026/06/29) ♡
- Decremental responses following repetitive nerve stimulation in spinal and bulbar muscular atrophy. (2026/06/26) ♡
- The FVB-nmd SMARD1 mouse presents with early respiratory deficits and pathology that significantly impact lifespan. (2026/06/26) ♡
- Anesthesia Care, Complications, and Airway Management for Patients With Spinal Muscular Atrophy: A Retrospective Chart Review From a Quaternary Children's Hospital. (2026/06/25) ♡
- A p53-ΔNp73 signaling axis drives selective motor neuron degeneration in spinal muscular atrophy. (2026/06/25) ♡
- 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. Trends in the Engineering of Adeno-Associated Virus (AAV) for Precision Gene Delivery to the Central Nervous System (CNS). (2026/06/23) ♡
- 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. Development of Clinical Pathways for Early Diagnosis and Management of SCID, SMA, and XLA Through Newborn Screening in Malaysia. (2026/06/23) ♡
- Access to care for adults living with spinal muscular atrophy in the UK. (2026/06/23) ♡
- SMΝΔ7 mice show breathing and airflow defects with significant pathology of respiratory and oral tract tissues. (2026/06/19) ♡
- 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. Cognitive and neurodevelopmental outcomes in spinal muscular atrophy: a scoping review. (2026/06/19) ♡
- Effects of postoperative electrical stimulation on quadriceps muscular atrophy in patients with incomplete cervical spinal cord injury. A retrospective study. (2026/06/19) ♡
- Longitudinal Transcriptomic Analysis Reveals Systemic Effects of Risdiplam in Adults with Spinal Muscular Atrophy. (2026/06/17) ♡
- Modifying disease registries to address the evolving field in rare diseases: the iSMAc/ITASMAc experience in spinal muscular atrophy. (2026/06/17) ♡
- 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. Alternative splicing-based therapeutics for neurodegenerative diseases: a dual-database bibliometric and NLP-driven analysis (2000-2025). (2026/06/16) ♡
- 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. Acetylcholine receptor antibody-positive myasthenia gravis and Kennedy's disease overlap syndrome: a case report and literature review. (2026/06/11) ♡
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