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Spinal muscular atrophy (SMA)
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Publications and studies (1659)
- What patient parameters influence lumbar stiffness in patients with hip pathology? (2024/05/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Genetic Testing in Pulmonary Arterial Hypertension Evaluation: A Patient and Clinician Survey. (2024/05/01) ♡
- 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. [Recent research on home rehabilitation and nursing for spinal muscular atrophy]. (2024/04/15) ♡
- 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. Disruption of Neuromuscular Junction Following Spinal Cord Injury and Motor Neuron Diseases. (2024/03/20) ♡
- Total tau in cerebrospinal fluid detects treatment responders among spinal muscular atrophy types 1-3 patients treated with nusinersen. (2024/03/01) ♡
- MRI‑based vertebral bone quality score is a comprehensive index reflecting the quality of bone and paravertebral muscle. (2024/03/01) ♡
- Monomelic Amyotrophy/Hirayama Disease: Surgical Outcome in a Large Cohort of Indian Patients. (2024/03/01) ♡
- Bronchoscopic treatment of pediatric atelectasis: A modified segmental insufflation-surfactant instillation technique. (2024/03/01) ♡
- Whole-Body Muscle Magnetic Resonance Imaging in 81 Patients with Spinal and Bulbar Muscular Atrophy: A Prospective Study. (2024/03/01) ♡
- Hip Displacement in Spinal Muscular Atrophy: The Influences of Genetic Severity, Functional Level, and Disease-modifying Treatments. (2024/03/01) ♡
- Nusinersen induces detectable changes in compound motor action potential response in spinal muscular atrophy type 1 patients with severe impairment of motor function. (2024/03/01) ♡
- Quantitative muscle ultrasound in adult spinal muscular atrophy. A pilot study. (2024/03/01) ♡
- Multiplex Real-Time PCR-Based Newborn Screening for Severe Primary Immunodeficiency and Spinal Muscular Atrophy in Osaka, Japan: Our Results after 3 Years. (2024/02/28) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Predicting outcomes for spinal muscular atrophy: When the diagnosis no longer means what it used to mean. (2024/02/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A case series evaluating patient perceptions after switching from nusinersen to risdiplam for spinal muscular atrophy. (2024/02/01) ♡
- Optimization of base editors for the functional correction of SMN2 as a treatment for spinal muscular atrophy. (2024/02/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Successful treatment of respiratory failure in Hirayama disease. (2024/02/01) ♡
- Life-Saving Treatments for Spinal Muscular Atrophy: Global Access and Availability. (2024/02/01) ♡
- Motor unit activity and synaptic inputs to motoneurons in the caudal part of the injured spinal cord. (2024/02/01) ♡
- Deep intronic variant causes aberrant splicing of ATP7A in a family with a variable occipital horn syndrome phenotype. (2024/02/01) ♡
- Onasemnogene Abeparvovec: Post-infusion Efficacy and Safety in Patients With Spinal Muscular Atrophy (SMA)-A Fondazione Policlinico Gemelli IRCCS Experience. (2024/02/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Malnutrition in Spinal Muscular Atrophy Type I: Case Report of a Novel Nutritional Intervention With Improved Growth and Function While Receiving Parallel Gene Splicing Therapies. (2024/02/01) ♡
- Effect of nusinersen after 3 years of treatment in 57 young children with SMA in terms of SMN2 copy number or type. (2024/02/01) ♡
- 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. Challenges and opportunities in spinal muscular atrophy therapeutics. (2024/02/01) ♡
- Troponin T in spinal and bulbar muscular atrophy (SBMA). (2024/01/15) ♡
- 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. Neuromuscular disorders in the omics era. (2024/01/15) ♡
- Comparison of the accuracy of multiplex digital PCR versus multiplex ligation-dependent probe amplification in quantification of the survival of motor neuron genes copy numbers. (2024/01/15) ♡
- A high-fidelity long-read sequencing-based approach enables accurate and effective genetic diagnosis of spinal muscular atrophy. (2024/01/15) ♡
- Association of Spinal Cord Atrophy and Brain Paramagnetic Rim Lesions With Progression Independent of Relapse Activity in People With MS. (2024/01/09) ♡
- 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. Autophagy in spinal muscular atrophy: from pathogenic mechanisms to therapeutic approaches. (2024/01/08) ♡
- Hydrophilic interaction liquid chromatography with mass spectrometry for the separation and identification of antisense oligonucleotides impurities and nusinersen metabolites. (2024/01/04) ♡
- Functional analysis of a novel splice site variant in the ASAH1 gene. (2024/01/01) ♡
- Correlations between clinical motor scores and CMAP in patients with type 2 spinal muscular amyotrophy treated with nusinersen. (2024/01/01) ♡
- Preconception or prenatal acceptance of SMN1 gene carrier screening and carrier rate of spinal muscular atrophy: a retrospective study in 18,818 reproductive age women in Wuhan area of China. (2024/01/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. The emerging spectrum of neurodevelopmental comorbidities in early-onset Spinal Muscular Atrophy. (2024/01/01) ♡
- Acetaminophen treatment in children and adults with spinal muscular atrophy: a lower tolerance and higher risk of hepatotoxicity. (2024/01/01) ♡
- 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. Brain-derived neurotrophic factor/tropomyosin receptor kinase B signaling in spinal muscular atrophy and amyotrophic lateral sclerosis. (2024/01/01) ♡
- Continued safety and long-term effectiveness of onasemnogene abeparvovec in Ohio. (2024/01/01) ♡
- Cost-effectiveness of spinal muscular atrophy newborn screening based on real-world data in Belgium. (2024/01/01) ♡
- 270th ENMC International Workshop: Consensus for SMN2 genetic analysis in SMA patients 10-12 March, 2023, Hoofddorp, the Netherlands. (2024/01/01) ♡
- 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. A Systematic Literature Review of the Natural History of Respiratory, Swallowing, Feeding, and Speech Functions in Spinal Muscular Atrophy (SMA). (2024/01/01) ♡
- Brain magnetic resonance imaging of patients with spinal muscular atrophy type 2 and 3. (2024/01/01) ♡
- 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. [Natural history of spinal muscular atrophy type I]. (2024/01/01) ♡
- Effects of Neuromuscular Electrical Stimulation for Quadriceps Muscle Thickness and Lower Extremity Motor Score in Individuals with Subacute Incomplete Cervical Spinal Cord Injury: A Randomized Controlled Trial. (2024/01/01) ♡
- Molecular Mechanisms of Medicinal Plant Securinega suffruticosa-derived Compound Securinine against Spinal Muscular Atrophy based on Network Pharmacology and Experimental Verification. (2024/01/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Genetics of Pediatric-Onset Motor Neuron and Neuromuscular Diseases (2024-12-19) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Study of the Functional Effects of Nusinersen in 5q-spinal Muscular Amyotrophy Adults (SMA Type 2 or 3 Forms) (2024-12-04) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. An Active Treatment Study of SRK-015 in Patients With Type 2 or Type 3 Spinal Muscular Atrophy (2024-12-02) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Spinraza in Adult Spinal Muscular Atrophy (2024-11-20) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. FLOWER: Following Longitudinal Outcomes With Epidemiology for Rare Diseases (2024-11-14) ♡
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