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Spinal muscular atrophy (SMA)
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Publications (1200)
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Longitudinal data collection in pediatric and adult patients with 5q spinal muscular atrophy in Latin America: LATAM RegistrAME study - a clinical registry study protocol. (2024/12/09) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Editorial: Mechanisms of neurodegeneration in amyotrophic lateral sclerosis and related disorders. (2024/12/05) ♡
- Spinal TNF-α receptor 1 is differentially required for phrenic long-term facilitation (pLTF) over the course of motor neuron death in adult rats. (2024/12/05) ♡
- The association between gait speed and falls in ambulatory adults with spinal muscular atrophy: a retrospective pilot study. (2024/12/04) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Respiratory outcomes of onasemnogene abeparvovec treatment for spinal muscular atrophy: national real-world cohort study. (2024/12/03) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. The First Patient in Poland Treated for SMA with Nusinersen During Pregnancy. (2024/12/03) ♡
- Co-culture of postnatal mouse spinal cord and skeletal muscle explants as an experimental model of neuromuscular interactions. (2024/12/02) ♡
- Comprehensive copy number analysis of spinal muscular atrophy among the Iranian population. (2024/12/02) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. ASAH1 Variants Causing Spinal Muscular Atrophy Phenotype. (2024/12/01) ♡
- Complete genomic profiles of 1496 Taiwanese reveal curated medical insights. (2024/12/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Outcomes of early-treated infants with spinal muscular atrophy: A multicenter, retrospective cohort study. (2024/12/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A Case Series Examining Clinic, Laboratory, and Physical Function After Administration of Nusinersen in Adults With Spinal Muscular Atrophy, a Single-Center Study. (2024/12/01) ♡
- Offering reproductive genetic carrier screening for cystic fibrosis, spinal muscular atrophy and fragile X syndrome: Views of Victorian general practitioners. (2024/12/01) ♡
- A self-reported Brazilian registry of 5q-spinal muscular atrophy: data on natural history, genetic characteristics, and multidisciplinary care. (2024/12/01) ♡
- 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) ♡
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