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Spinal muscular atrophy (SMA)
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Publications and studies (1659)
- 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) ♡
- A Novel De Novo Splice Acceptor Variant in BICD2 Is Associated With Spinal Muscular Atrophy. (2025/04/01) ♡
- Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing data sets. (2025/04/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. A rare family of SMA combined with type B Kufs disease. (2025/04/01) ♡
- Longitudinal Efficacy of Nusinersen Treatment on Health-Related Quality of Life and Independence in Children With Later-Onset Spinal Muscular Atrophy. (2025/03/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Risdiplam in Adult Patients With 5q Spinal Muscular Atrophy: A Single-Center Longitudinal Study. (2025/03/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Measuring Broad and Meaningful Impacts With Patient-Reported Outcomes in Spinal Muscular Atrophy as a Framework for Neuromuscular Disorders. (2025/03/01) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Generation of an induced pluripotent stem cell line from a Kennedy Disease patient with AR mutation. (2025/03/01) ♡
- Analysis of spinal muscular atrophy patients from the spinal muscular atrophy and muscular dystrophy registry of Pakistan. (2025/03/01) ♡
- 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. Newborn screening and rapid genomic diagnosis of neuromuscular diseases. (2025/03/01) ♡
- 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. Swallowing function in patients with spinal muscular atrophy before and after the introduction of new gene-based therapies: what has changed? (2025/03/01) ♡
- Italian survey on evolving SMA care with disease-modifying therapies: a consensus workshop on nutrition, swallowing, respiratory and rehabilitation care. (2025/03/01) ♡
- 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. Systematic literature review of the impact of spinal muscular atrophy therapies on bulbar function. (2025/03/01) ♡
- IL-1ra and CCL5, but not IL-10, are promising targets for treating SMA astrocyte-driven pathology. (2025/02/05) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Fatigue and Fatigability in Spinal Muscular Atrophy; a Proposed Taxonomy to Enhance Assessment and Treatment. (2025/02/01) ♡
- Feature Engineering for the Prediction of Scoliosis in 5q-Spinal Muscular Atrophy. (2025/02/01) ♡
- 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. Novel biallelic nonsense mutation in IGHMBP2 gene linked to neuropathy (CMT2S): A comprehensive clinical, genetic and bioinformatic analysis of a Turkish patient with literature review. (2025/02/01) ♡
- Patient- and Caregiver-Reported Impact of Symptoms in Alzheimer Disease, Mild Cognitive Impairment, and Dementia. (2025/02/01) ♡
- Generation of an induced pluripotent stem cell (iPSC) line (INNDSUi007-A) from a patient with Kennedy disease. (2025/02/01) ♡
- Scoliosis development in 5q-spinal muscular atrophy under disease modifying therapies. (2025/02/01) ♡
- Erratum: Spinal Muscular Atrophy Update in Best Practices: Recommendations for Diagnosis Considerations. (2025/02/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. The influence of genotype on the natural history of types 1 - 3 spinal muscular atrophy. (2025/02/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Effect of Nusinersen on Respiratory and Bulbar Function in Children with Spinal Muscular Atrophy: Real-World Experience from a Single Center. (2025/02/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Response to Letter to the Editor: Effect of Nusinersen on Respiratory and Bulbar Function in Children with Spinal Muscular Atrophy. (2025/02/01) ♡
- Association between serum copper concentration and body composition in children with spinal muscular atrophy: a cross-sectional study. (2025/02/01) ♡
- 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. Safety and Efficacy of IV Onasemnogene Abeparvovec for Pediatric Patients With Spinal Muscular Atrophy: The Phase 3b SMART Study. (2025/01/28) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Spinal muscular atrophy type 1 in the Caribbean: the first case report from the Dominican Republic. (2025/01/08) ♡
- Comprehensive analysis of adverse events associated with onasemnogene abeparvovec (Zolgensma) in spinal muscular atrophy patients: insights from FAERS database. (2025/01/07) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Edaravone promotes motoneuron survival and functional recovery after brachial plexus root avulsion and reimplantation in rats: Involvement of SIRT1/TFEB pathway. (2025/01/03) ♡
- Thigh and paraspinal muscles change after fusionless bipolar fixation for early onset scoliosis in type 2 spinal muscular atrophy: Modifications in the spinal and thigh muscles of subjects with SMA2 and early onset scoliosis. (2025/01/01) ♡
- 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. Maternal health and obstetric complications of genetic neuromuscular disorders in pregnancy: A systematic review. (2025/01/01) ♡
- 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. Emotions experienced by parents whose children have spinal muscular atrophy: A qualitative research. (2025/01/01) ♡
- Measuring multifidus muscles atrophy after midline lumbar fusion with cortical bone trajectory screws due to spinal instability and spondylolisthesis: a retrospective case series. (2025/01/01) ♡
- Efficacy and safety of Nusinersen among children with spinal muscular atrophy from North India: A prospective cohort study (NICE-SMA study). (2025/01/01) ♡
- Location of polyglutamine track affects pathogenic threshold of polyglutamine expansion diseases - Importance of association with the proteasome. (2025/01/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. National Registry for Home Mechanical Ventilation in Children from Turkey. (2025/01/01) ♡
- Characterization of swallowing biomechanics and function in untreated infants with spinal muscular atrophy: A natural history dataset. (2025/01/01) ♡
- 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 Disuse Atrophy. (2025/01/01) ♡
- [Onasemnogene abeparvovec gene replacement therapy for spinal muscular atrophy in children: a Moscow experience]. (2025/01/01) ♡
- 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. The role of caregivers: Providing compassionate and effective care. (2025/01/01) ♡
- [Pharmacoeconomic evaluation of spinal muscular atrophy therapy in patients with four SMN2 copies diagnosed through newborn screening]. (2025/01/01) ♡
- Pathogenic mechanisms of amyotrophic lateral sclerosis-linked VAPB P56S mutation in the degeneration of corticospinal motor neurons. (2025/01/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Motor Development and Orthoses in Spinal Muscular Atrophy (SMA) (2025-12-23) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Sarcopenia in Axial and Peripheral Spondyloarthropathies (2025-12-19) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Active NBS Study: Decentralised Monitoring Motor Development in Children With Duchenne Muscular Dystrophy or Spinal Muscular Atrophy Identified by Newborn Screening (2025-12-16) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Implementation of FEES in Spinal Muscle Atrophy (2025-12-10) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Study of the Efficacy and Safety of Immune Globulin Intravenous (Human) Flebogamma® 5% Dual Inactivation and Filtration (DIF) in Participants With Post-polio Syndrome (2025-12-05) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Real World Clinical Effectiveness & Safety of Vesemnogene Lantuparvovec for Spinal Muscular Atrophy (SMA) in Low-middle Income Countries (LMIC). (2025-12-04) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Monitoring to the Evolution of Motor Function in SMA Type II Adults Patients Treated With SPINRAZA® (2025-12-03) ♡
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