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Spinal muscular atrophy (SMA)
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Publications and studies (1659)
- RNA-based drug discovery for spinal muscular atrophy: a story of small molecules and antisense oligonucleotides. (2023/02/01) ♡
- Population WGS-based spinal muscular atrophy carrier screening in a cohort of 1076 healthy Polish individuals. (2023/02/01) ♡
- Efficacy of Anterior Cervical Discectomy and Fusion for Female Patients with Hirayama Disease. (2023/02/01) ♡
- Maternal carrier screening with single-gene NIPS provides accurate fetal risk assessments for recessive conditions. (2023/02/01) ♡
- A pediatric quantitative systems pharmacology model of neurofilament trafficking in spinal muscular atrophy treated with the antisense oligonucleotide nusinersen. (2023/02/01) ♡
- Disease Burden in Children With Spinal Muscular Atrophy: Results From a Large Cross-Sectional Study. (2023/02/01) ♡
- Axial postural abnormalities and pain in Parkinson's disease. (2023/02/01) ♡
- Inherited myopathy plus: Double-trouble from rare neuromuscular disorders. (2023/02/01) ♡
- Risk factors for recurrent respiratory tract infections and acute respiratory failure in children with spinal muscular atrophy. (2023/02/01) ♡
- Assessment of motor function and nutritional status in children with spinal muscular atrophy treated with nusinersen after loading period in Western China: a retrospective study. (2023/01/23) ♡
- 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-protective mechanisms of autophagy associated circRNAs: Kick starting self-cleaning mode in brain cells via circRNAs as a potential therapeutic approach for neurodegenerative diseases. (2023/01/16) ♡
- 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. Progress and challenges in directing the differentiation of human iPSCs into spinal motor neurons. (2023/01/05) ♡
- Meta-analysisiAll studies on one question combined and calculated together. This is the strongest form of research that exists: a single loose study can be coincidence, dozens together much less so. The label says something about the design, not about the outcome — which can also be that something does NOT work. Role of paraspinal muscle degeneration in the occurrence and recurrence of osteoporotic vertebral fracture: A meta-analysis. (2023/01/04) ♡
- Novel Three-Holed Titanium Plate Fixation during Open Door Laminoplasty for Cervical Spondylotic Myelopathy: Comparison with Conventional Titanium Plate. (2023/01/01) ♡
- Polysomnography findings in children with spinal muscular atrophy after onasemnogene-abeparvovec. (2023/01/01) ♡
- 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. Prospects for gene replacement therapies in amyotrophic lateral sclerosis. (2023/01/01) ♡
- Inflammatory markers in cerebrospinal fluid of paediatric spinal muscular atrophy patients receiving nusinersen treatment. (2023/01/01) ♡
- Room to improve: The diagnostic journey of Spinal Muscular Atrophy. (2023/01/01) ♡
- 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. Current treatments of spinal muscular atrophy in adults. (2023/01/01) ♡
- Behavioral problems in infants and young children with spinal muscular atrophy and their siblings: A cross-sectional study. (2023/01/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Vitamin K Deficiency in the Setting of Blenderized Tube Feeding Regimen in a Teenager: A Case Report. (2023/01/01) ♡
- Patients with Spinal Muscular Atrophy Type 1 Achieve and Maintain Bulbar Function Following Onasemnogene Abeparvovec Treatment. (2023/01/01) ♡
- Adeno-associated virus-mediated gene therapy for rare pediatric neurogenetic diseases: Current status and outlook. (2023/01/01) ♡
- [Oral disease-modifying therapy for adult patients with spinal muscular atrophy type 2]. (2023/01/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Real-World Use of Novel Treatments in Patients With Spinal Muscular Atrophy (SMA): A Multi-Site Retrospective Chart Review of Pediatric SMA Patients Outside of the United States (2023-12-21) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Responsiveness and Validation Study of MFM-32 in SMA Patients Treated With Nusinersen (2023-12-21) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. PatientSpot Formerly Known as ArthritisPower (2023-12-13) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Non-Interventional, Postmarketing Surveillance Study of Nusinersen Sodium Injection (2023-12-07) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Exploring Accessible Beauty for Individuals With Upper Extremity Deficits (2023-12-06) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Home Monitoring of Adult Patients With SMA: a Pilot Multicenter Validation Study (2023-12-01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Long Term Safety of Amifampridine Phosphate in Spinal Muscular Atrophy 3 (2023-11-30) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Muscle Structure, Function and Gait in dHMN (2023-11-28) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A Community Wellness Program for Adults Living With Long-term Physical Disability (2023-11-21) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Spinal Cord Gray Matter Imaging in Spinal Muscular Atrophy (2023-11-18) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Toxicity and Efficacy Evaluation of Topical Minoxidil in Acne Vulgaris (2023-11-03) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Rehabilitative Effect of the Use of a Gait Exoskeleton in Patients With Neuromuscular Disease or Cerebral Palsy (2023-10-26) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Safety and Efficacy Study of Pyridostigmine on Patients With Spinal Muscular Atrophy Type 3 (2023-10-11) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Pompe & Pain - Study to Assess Nociceptive Pain in Adult Patients With Pompe Disease (2023-10-10) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. The Effect of Aerobic Exercise Training in Patients With Type III Spinal Muscular Atrophy (2023-09-28) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. MAP THE SMA: a Machine-learning Based Algorithm to Predict THErapeutic Response in Spinal Muscular Atrophy (2023-09-13) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Feasibility of a Newborn Screening for Spinal Muscular Atrophy (SMA) in France: DEPISMA Prefigurator Project in Grand-Est and Nouvelle-Aquitaine (2023-09-08) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Genetic Newborn Screening for Cystinosis and Spinal Muscular Atrophy (2023-09-07) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Characterization of the Postural Habits of Wheelchair Users Analysis of the Acceptability of International Recommendations in the Prevention of Pressure Sores Risk by Using a Connected Textile Sensor (2023-08-31) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Phenomics in Autoimmune and Inflammatory Diseases (2023-08-08) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Motor Function and Activity of Daily Life in Spinal Muscular Atrophy (2023-07-07) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A Long-Term Study in Patients With Amyotrophic Lateral Sclerosis (ALS) (2023-06-18) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A Study in Patients With Amyotrophic Lateral Sclerosis (ALS) (2023-06-18) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Pilot Study for Peripheral Neuromuscular Electrical Stimulation of the Quadriceps Muscle (2023-06-05) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Anti-inflammatory Diet Consultation for Those With Neuromuscular Disability (2023-05-31) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Development of a Multidisciplinary Network for Clinical and Laboratory Research for SMA (2023-05-19) ♡
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