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Spinal muscular atrophy (SMA)
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Publications and studies (1659)
- 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) ♡
- Longitudinal motor function and biomarker correlates in treated adult spinal muscular atrophy: a single-center cohort study. (2026/06/11) ♡
- A functional framework in patient fibroblasts informs ATP7A variant pathogenicity and identifies p.Q990P as a novel cause of distal motor neuropathy. (2026/06/06) ♡
- Oral and Swallowing Abilities Tool (OrSAT) in Individuals with Type I SMA Older than 24 Months: A Pilot Study. (2026/06/02) ♡
- CT-guided Lumbar Puncture for Intrathecal Nusinersen Injection in Patients with Spinal Muscular Atrophy: Technical Effectiveness, Safety, and Radiation Dose. (2026/06/01) ♡
- Assessing the growth of children with spinal muscular atrophy using specific curves: A retrospective cohort study. (2026/06/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Comparison of Nusinersen Monotherapy Versus Combination Therapy With Nusinersen and Onasemnogene Abeparvovec in Spinal Muscular Atrophy Type 1 Patients With Two SMN2 Copies: A Multicenter Study From Türkiye. (2026/06/01) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Optimizing In Vitro Efficacy Assessment of the Antisense Oligonucleotide Nusinersen in Human Cellular Models. (2026/05/26) ♡
- 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 ASCC1 splice-site variant broadens the phenotypic spectrum of spinal muscular atrophy with congenital bone fractures type 2. (2026/05/25) ♡
- 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. Re-examining the Disc-Centric Interpretation of Chronic Low Back Pain: A Narrative Review. (2026/05/22) ♡
- 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. Delphi consensus on gene therapy of spinal muscular atrophy with onasemnogene abeparvovec in Germany, Austria and Switzerland-part I-systematic literature review and existing evidence. (2026/05/01) ♡
- Diagnostic Value of Exome Sequencing in Isolated Polyhydramnios. (2026/05/01) ♡
- U.S. health plan coverage of Neuromuscular Disease Therapies: An assessment of policy availability and restrictions. (2026/05/01) ♡
- MRI correlation between paraspinal muscle atrophy, age, and degenerative lumbar spine changes in low back pain patients. (2026/05/01) ♡
- Sleep quality, restless legs syndrome and daytime sleepiness in adults with 5q-spinal muscular atrophy. (2026/05/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A prospective, multi-center, observational study of the safety, tolerability and effectiveness of Nusinersen in adult patients with spinal muscular atrophy. (2026/05/01) ♡
- Mortality in agriculture workers: a case-control study in Italy. (2026/05/01) ♡
- Pediatric Spinal Muscular Atrophy Patients Treated With Nusinersen: Experience From a Tertiary Referral Center in Turkey. (2026/05/01) ♡
- Nusinersen for type-III spinal muscular atrophy: a 12-month retrospective study in a Brazilian cohort. (2026/05/01) ♡
- A class of deep intronic IGHMBP2 variants activate a shared cryptic splice donor, enabling correction of select variants with a single antisense oligonucleotide. (2026/04/29) ♡
- Amplification refractory mutation system polymerase chain reaction-capillary electrophoresis's applicability for newborn screening in dried blood spots of spinal muscular atrophy. (2026/04/13) ♡
- Adverse events of nusinersen: a real-world drug safety surveillance study based on the FDA adverse event reporting system (FAERS) database. (2026/04/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Deepening and Broadening: Revisiting Theories, Long-Term Economic Impact, and Diversity in Parental Bereavement After the Loss of a Child to Spinal Muscular Atrophy. (2026/04/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Valuing Pediatric Technologies: A Framework for Parental Spillovers in Spinal Muscular Atrophy Bereavement. (2026/04/01) ♡
- Liver Steatosis in Induced Hepatocytes From Carriers of Spinal Muscular Atrophy. (2026/04/01) ♡
- Onasemnogene Abeparvovec in Type I Spinal Muscular Atrophy: 24-Month Follow-Up From the Italian Registry. (2026/03/19) ♡
- Impairment of lip and tongue strength in symptomatic SMA1 patients: Results from a 4-center prospective study using the IOPI. (2026/03/13) ♡
- 285th ENMC international workshop: SMN-associated neurodevelopmental disorder: type 1 spinal muscular atrophy and the brain, 31st January - 2nd February 2025, Hoofddorp, The Netherlands. (2026/03/01) ♡
- Real-world treatment patterns and unmet needs in spinal muscular atrophy: a caregiver-centric survey study from China. (2026/02/27) ♡
- Microvascular pathology in the spinal cord of severe spinal muscular atrophy patients. (2026/02/15) ♡
- 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. (2026/02/12) ♡
- An induced pluripotent stem cell-based chemical genetic approach for studying spinal muscular atrophy. (2026/02/04) ♡
- 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. Nanotechnology empowering biomedical therapy: new treatment perspectives for sarcopenia and degenerative muscle atrophy. (2026/02/03) ♡
- Behavioral and Emotional Challenges in Children With Spinal Muscular Atrophy. (2026/02/01) ♡
- 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. Real-world evidence supporting orphan drugs approvals for rare neuromuscular disorders in the European Union and the United States: Review of public assessment reports (2015-2025). (2026/02/01) ♡
- 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. Effectiveness and Safety of Nusinersen and Risdiplam in Spinal Muscular Atrophy: A Systematic Review. (2026/02/01) ♡
- Phase 3 studyiResearch in a large group of patients, the final step before a treatment can be approved. What comes out here carries significant weight. Intrathecal onasemnogene abeparvovec in treatment-naive patients with spinal muscular atrophy: a phase 3, randomized controlled trial. (2026/02/01) ♡
- Phase 3 studyiResearch in a large group of patients, the final step before a treatment can be approved. What comes out here carries significant weight. Intrathecal onasemnogene abeparvovec for treatment-experienced patients with spinal muscular atrophy: a phase 3b, open-label trial. (2026/02/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A Psychometric Evaluation of Maximum Phonation Time and S/Z Ratio as Pragmatic Outcome Measures of Bulbar Function in Adults With Spinal Muscular Atrophy. (2026/02/01) ♡
- Plasma microRNA predict cognitive decline in Parkinson's disease. (2026/02/01) ♡
- 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. Clinically discordant siblings with spinal muscular atrophy: insights from their patient-specific iPSC-derived motor neurons and literature review. (2026/02/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Effectiveness and Safety of Nusinersen Among Adults with 5q-Spinal Muscular Atrophy: A Multicenter Disease Registry in China. (2026/02/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Phenotypic continuum in IGHMBP2-related disorders: a portfolio of cases from typical to Guillain-Barré syndrome-like presentation. (2026/02/01) ♡
- Learnings from a registry-based cohort study for spinal muscular atrophy disease. (2026/02/01) ♡
- Insights into the human pharmacokinetics and metabolism of branaplam, a splicing modulator of a survival motor neuron-2 and huntingtin pre-mRNAs, in infants and adults. (2026/02/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Contaminating plasmid sequences and disrupted vector genomes in the liver following adeno-associated virus gene therapy. (2026/02/01) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Identification of key genes associated with muscle atrophy after spinal cord injury and experimental verification in rats. (2026/01/27) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Case Report: Spinal muscular atrophy with IgA nephropathy: a coincidence or association? (2026/01/22) ♡
- From policy to practice: premarital spinal muscular atrophy screening as a public health initiative in northern Türkiye. (2026/01/21) ♡
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