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Spinal muscular atrophy (SMA)

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Search Period All yearsLast 12 monthsLast 5 years Topic All topicsGeneralNutrition and dietAlternative treatment methods Type of research Any type of researchHighest evidence only (55)Meta-analysis (4)Treatment guideline (3)Systematic review (20)Phase 3 study (16)Randomized controlled trial (12)Clinical trial (482)Review article (202)Early-stage study (phase 1 or 2) (13)Case report (127)Laboratory or animal study (39)Commentary or editorial (55) Studies currently recruiting participants only (34)

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Publications and studies (1657)

• Microvascular pathology in the spinal cord of severe spinal muscular atrophy patients. (2025/12/01) ♡
• Real-world evidence of Nusinersen treatment for patients with spinal muscular atrophy in the Kingdom of Saudi Arabia: Initial insights from the Saudi national spinal muscular atrophy program. (2025/12/01) ♡
• 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. DYNC1H1 in Spinal Muscular Atrophy: Diagnostic Findings From Two Families and a Comprehensive Review of Its Role in Neuromuscular and Neurodevelopmental Disorders. (2025/12/01) ♡
• Longitudinal evaluation of fatigue in adult patients with spinal muscular atrophy and the impact of disease-modifying drugs. (2025/12/01) ♡
• Severe hyperCKaemia and decreased sarcolemmal dysferlin in VRK1-associated distal spinal muscular atrophy: a case report. (2025/11/30) ♡
• Epidemiology and economic burden of selected rare genetic diseases in Germany - a claims database study. (2025/11/28) ♡
• A comparative analysis of bone mineral density in cerebral palsy and spinal muscular atrophy. (2025/11/28) ♡
• Five-year disease-modifying therapeutic experience of 102 Chinese paediatric 5q-spinal muscular atrophy: a retrospective analysis. (2025/11/27) ♡
• Targeting Astrocytic Connexin 43 Mitigates Glutamate-Driven Motor Neuron Stress in Late-Onset Spinal Muscular Atrophy. (2025/11/25) ♡
• 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. Extracellular Matrix Remodeling in Motor Neuron Diseases. (2025/11/25) ♡
• 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. Novel Translational Concept: Axon-to-Muscle Exosomal Signaling as an Emerging Therapeutic Target in Spinal Muscular Atrophy. (2025/11/25) ♡
• Challenges in evaluating whole genome sequencing for newborn screening: series of systematic reviews and roadmap for evidence generation for policy advisers. (2025/11/21) ♡
• Human Mutant Dynactin Subunit 1 Causes Profound Motor Neuron Disease Consistent with Possible Mechanisms Involving Axonopathy, Mitochondriopathy, Protein Nitration, and T-Cell-Mediated Cytolysis. (2025/11/21) ♡
• Evaluation of the Telomere Length in Patients with Spinal Muscular Atrophy. (2025/11/20) ♡
• 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. Emerging Technologies Tackling Adeno-Associated Viruses (AAV) Immunogenicity in Gene Therapy Applications. (2025/11/19) ♡
• The Effect of Long-Term Non-Invasive Ventilation on Tracheostomy-Free Survival and Hospitalizations in Types 2 and 3 Spinal Muscular Atrophy Patients. (2025/11/18) ♡
• 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. Implementation Timeframes for the Addition of New Conditions to Newborn Bloodspot Screening Programmes: A Scoping Review. (2025/11/14) ♡
• 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. Comprehensive Risdiplam Synthesis Overview: From Cross-Coupling Reliance to Complete Palladium Independence. (2025/11/12) ♡
• The Integrated Approach in Patients with Spinal Muscular Atrophy in the Era of Early Diagnosis, Etiopathogenic Therapies and Multidisciplinary Standards of Care and Rehabilitation Interventions Leads to New Phenotypes. (2025/11/10) ♡
• An induced pluripotent stem cell-based chemical genetic approach for studying spinal muscular atrophy. (2025/11/05) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Ergothioneine supplementation improves pup phenotype and survival in a murine model of spinal muscular atrophy. (2025/11/01) ♡
• 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. Pharmacokinetics of therapies approved for spinal muscular atrophy: A narrative review of current evidence. (2025/11/01) ♡
• 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. Antisense molecules: A promising new therapy for atopic dermatitis. (2025/11/01) ♡
• [Pregnancy in women with Spinal Muscular Atrophy: A survey conducted by french patients, with commentary from the Lille Reference Center for Neuromuscular Diseases]. (2025/11/01) ♡
• Real-Time Ultrasound-Guided Intrathecal Delivery of Nusinersen in Adult Patients With Spinal Muscular Atrophy and Complex Spinal Anatomy. (2025/11/01) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Treating Presymptomatic Spinal Muscular Atrophy Patients with Onasemnogene Abeparvovec in Italy: The Role of the National Health System and Drug Supply. Comment on Zaidman et al. Newborn Screening for Spinal Muscular Atrophy: Variations in Practice and Early Management of Infants with Spinal Muscular Atrophy in the United States. Int. J. Neonatal Screen. 2024, 10, 58. (2025/10/31) ♡
• A Qualitative Study on Parental Experiences with Genetic Counseling After a Positive Newborn Screen for Recently Added Conditions on the Recommended Uniform Screening Panel (RUSP). (2025/10/30) ♡
• 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. Celebrating 50 Years of Nationwide Newborn Screening in Hungary-Review, Current Situation, and Future Directions. (2025/10/27) ♡
• Spinal Muscular Atrophy in Colombia: Nationwide Incidence, Demographic Distribution, and Healthcare Challenges. (2025/10/25) ♡
• Differences in swallowing efficacy of disease modifying treatment between infants receiving pre-symptomatic and symptomatic administration. (2025/10/21) ♡
• MiR-140-3p regulates axonal motor protein KIF5A and contributes to axonal transport degeneration in SMA. (2025/10/07) ♡
• Comparative Clinical Outcomes of Nusinersen and Gene Therapy in Spinal Muscular Atrophy Type 1. (2025/10/01) ♡
• Early-stage study (phase 1 or 2)iEarly research in a small group, primarily aimed at safety and dosage. Whether it actually works still needs to be determined afterward. Risdiplam in Presymptomatic Spinal Muscular Atrophy. (2025/08/14) ♡
• Difficulties of Eating and Masticating Solid Food in Children with Spinal Muscular Atrophy-Preliminary Study. (2025/08/06) ♡
• Body Composition in Children With Spinal Muscular Atrophy Types 2 and 3 Receiving Nusinersen Treatment: A Longitudinal Cohort Study. (2025/08/01) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Real-world data on the effect of long-term treatment with nusinersen over > 4 years in a cohort of Swiss patients with spinal muscular atrophy. (2025/08/01) ♡
• 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. Managing Spinal Muscular Atrophy: A Look at the Biology and Treatment Strategies. (2025/08/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Eosinophilic Esophagitis in a 3-Year-Old Girl with Spinal Muscular Atrophy Type 1: The First Reported Case. (2025/07/28) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. A novel mutation in the DYNC1H1 gene causing developmental and epileptic encephalopathy treated with ketogenic diet: A case report. (2025/07/11) ♡
• Meta-analysisiAll studies on one question combined and calculated together. This is the strongest form of research that exists: a single loose study can be coincidence, dozens together much less so. The label says something about the design, not about the outcome — which can also be that something does NOT work. Gene-based therapy for the treatment of spinal muscular atrophy types 1 and 2 : a systematic review and meta-analysis. (2025/07/01) ♡
• 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. Switching disease-modifying therapies in patients with spinal muscular atrophy: A systematic review on effectiveness outcomes. (2025/06/19) ♡
• Incidence of Homozygous SMN2 Deletion in Japan: Cross-Reactivity of SMN2 Primers with SMN1 Sequence Causes False Negatives in Real-Time PCR Screening. (2025/06/16) ♡
• 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. Neurology of Androgens and Androgenic Supplements. (2025/06/03) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Onasemnogene Abeparvovec is Safe in Hemolytic Disease of the Newborn: A Case Report. (2025/06/01) ♡
• 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. Advances in Disease-Modifying Therapeutics for Chronic Neuromuscular Disorders. (2025/06/01) ♡
• Polyglutamine expansion induced dynamic misfolding of androgen receptor. (2025/06/01) ♡
• 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. Decoding Neuromuscular Disorders: The Complex Role of Genetic and Epigenetic Regulators. (2025/05/23) ♡
• A perioperative nursing care protocol for patients with spinal muscular atrophy (SMA) type II or type III undergoing spinal surgery: a 4-year experience in 24 patients. (2025/05/19) ♡
• High Expression of SMN circ4-2b-3 in SMA I Children Treated with Nusinersen is Associated with Improved Motor Outcomes. (2025/05/01) ♡
• Direct assessment of hereditary hemochromatosis in preimplantation genetic testing. (2025/05/01) ♡

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