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Spinal muscular atrophy (SMA)
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Publications and studies (1659)
- Type I spinal muscular atrophy and disease modifying treatments: a nationwide study in children born since 2016. (2024/11/30) ♡
- 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. Neuromuscular diseases: genomics-driven advances. (2024/11/26) ♡
- Concomitant telomere attrition is associated with spinal muscular atrophy in highly inbred region of North India: unraveling the thread in Kashmir region. (2024/11/25) ♡
- 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: Atypical motor development in a patient with the mosaic form of Down syndrome and spinal muscular atrophy type 2- long-term observation. (2024/11/22) ♡
- 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. Advances and Challenges in Gene Therapy for Neurodegenerative Diseases: A Systematic Review. (2024/11/21) ♡
- Risdiplam: therapeutic effects and tolerability in a small cohort of 6 adult type 2 and type 3 SMA patients. (2024/11/20) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. SMN Deficiency Induces an Early Non-Atrophic Myopathy with Alterations in the Contractile and Excitatory Coupling Machinery of Skeletal Myofibers in the SMN∆7 Mouse Model of Spinal Muscular Atrophy. (2024/11/19) ♡
- Common complications in spinal muscular atrophy (SMA) type 1 after nusinersen treatment. (2024/11/16) ♡
- Gratitude Experience in Ten Patients with Spinal Muscular Atrophy: A Qualitative Study. (2024/11/15) ♡
- 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. Recent Advances and Prospects in RNA Drug Development. (2024/11/15) ♡
- Reverse Split Hand as a Neurophysiological Hallmark of Spinal Muscular Atrophy. (2024/11/15) ♡
- CAGn Polymorphic Locus of Androgen Receptor (AR) Gene in Russian Infertile and Fertile Men. (2024/11/13) ♡
- A Modular Genetic Approach to Newborn Screening from Spinal Muscular Atrophy to Sickle Cell Disease-Results from Six Years of Genetic Newborn Screening. (2024/11/13) ♡
- Patient-specific responses to SMN2 splice-modifying treatments in spinal muscular atrophy fibroblasts. (2024/11/13) ♡
- Identification of Biochemical Determinants for Diagnosis and Prediction of Severity in 5q Spinal Muscular Atrophy Using (1)H-Nuclear Magnetic Resonance Metabolic Profiling in Patient-Derived Biofluids. (2024/11/12) ♡
- 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. Nutrition outcomes of disease modifying therapies in spinal muscular atrophy: A systematic review. (2024/11/01) ♡
- Prognostic factors for tube feeding in type I SMA patients treated with disease-modifying therapies: a cohort study. (2024/11/01) ♡
- Outcomes for patients in the RESTORE registry with spinal muscular atrophy and four or more SMN2 gene copies treated with onasemnogene abeparvovec. (2024/11/01) ♡
- Type 1 spinal muscular atrophy treated with nusinersen in Norway, a five-year follow-up. (2024/11/01) ♡
- Type-1 spinal muscular atrophy cohort before and after disease-modifying therapies. (2024/11/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Comparative efficacy of risdiplam and nusinersen in Type 2 and 3 spinal muscular atrophy patients: A cohort study using real-world data. (2024/11/01) ♡
- Newborn screening programs for spinal muscular atrophy worldwide in 2023. (2024/11/01) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Peripheral defects precede neuromuscular pathology in the Smn(2B/-) mouse model of spinal muscular atrophy. (2024/11/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Hirayama Disease in a Young Male: A Case Report. (2024/11/01) ♡
- 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. The Relevance of Spinal Muscular Atrophy Biomarkers in the Treatment Era. (2024/10/30) ♡
- 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. Hereditary Neuromuscular Disorders in Reproductive Medicine. (2024/10/30) ♡
- Efficacy of Nusinersen Treatment in Type 1, 2, and 3 Spinal Muscular Atrophy: Real-World Data from a Single-Center Study. (2024/10/29) ♡
- Respiratory Trajectories and Correlation with Serum Biochemical Indices in Spinal and Bulbar Muscular Atrophy. (2024/10/25) ♡
- 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. MicroRNAs as Biomarkers in Spinal Muscular Atrophy. (2024/10/23) ♡
- Erratum: Complex SMN Hybrids Detected in a Cohort of 31 Patients With Spinal Muscular Atrophy. (2024/10/23) ♡
- Efficacy and safety of gene therapy with onasemnogene abeparvovec in children with spinal muscular atrophy in the D-A-CH-region: a population-based observational study. (2024/10/07) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Rare coexistence of spinal muscular atrophy with membranous nephropathy - A clinical conundrum with management dilemma. (2024/10/01) ♡
- A reassessment of spinal cord pathology in severe infantile spinal muscular atrophy: Reassessment of spinal cord pathology. (2024/10/01) ♡
- Impact of respiratory tract infections on spinal muscular atrophy with focus on respiratory syncytial virus infections: a single-centre cohort study. (2024/10/01) ♡
- Adeno-associated virus serotype 9 antibodies in neonates and young children: Seroprevalence and kinetics. (2024/09/21) ♡
- Use of disease-modifying therapies in spinal muscular atrophy 5q in Mexico. (2024/09/02) ♡
- Experiences of families of children with spinal muscular atrophy and the healthcare professionals supporting them during the COVID-19 pandemic: A nationwide study. (2024/09/01) ♡
- Real-World Data in Children with Spinal Muscular Atrophy Type 1 on Long-Term Ventilation Receiving Gene Therapy: A Prospective Cohort Study. (2024/08/28) ♡
- Judicialization of Zolgensma in the Ministry of Health: costs and clinical profile of patients. (2024/08/12) ♡
- 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. Management of neurological problems in children on home invasive mechanical ventilation. (2024/08/01) ♡
- Unveiling the adverse events of Nusinersen in spinal muscular atrophy management based on FAERS database. (2024/07/25) ♡
- Exploring the Influence of Concurrent Nutritional Therapy on Children with Spinal Muscular Atrophy Receiving Nusinersen Treatment. (2024/07/23) ♡
- Ultrasound-assisted and landmark-based nusinersen delivery in spinal muscular atrophy adults: A retrospective analysis. (2024/07/15) ♡
- 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. Subacute liver injury in two young infants following gene replacement therapy for spinal muscular atrophy. (2024/07/02) ♡
- 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. An updated systematic review on spinal muscular atrophy patients treated with nusinersen, onasemnogene abeparvovec (at least 24 months), risdiplam (at least 12 months) or combination therapies. (2024/07/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Mechanism of the Immediate Effect of Balloon Dilation Therapy in Spinal Muscular Atrophy With Dysphagia: A High-Resolution Manometric Study. (2024/06/11) ♡
- Health checkups during the pandemic and clinical impact of COVID-19 in children with neuromuscular disease. (2024/06/01) ♡
- Nutritional and lipid profile status of children with spinal muscular atrophy in China: A retrospective case-control study. (2024/05/20) ♡
- 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. Spinal Muscular Atrophy, X-Linked Infantile. (2024/05/09) ♡
- Hepatocyte-intrinsic SMN deficiency drives metabolic dysfunction and liver steatosis in spinal muscular atrophy. (2024/05/09) ♡
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