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Spinal muscular atrophy (SMA)
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Publications and studies (1657)
- 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. Overview of FES-Assisted Cycling Approaches and Their Benefits on Functional Rehabilitation and Muscle Atrophy. (2018/01/01) ♡
- To Reverse Atrophy of Human Muscles in Complete SCI Lower Motor Neuron Denervation by Home-Based Functional Electrical Stimulation. (2018/01/01) ♡
- [Minimally invasive dorsal decompression-stabilization surgery in patients with overweight and obesity]. (2018/01/01) ♡
- The expression of SMN1, MART3, GLE1 and FUS genes in spinal muscular atrophy. (2018/01/01) ♡
- BRCA2-Associated Prostate Cancer in a Patient With Spinal and Bulbar Muscular Atrophy. (2018/01/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Power Over Pain (POP) Study (2018-10-17) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A Study to Investigate the Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of Risdiplam (RO7034067) Given by Mouth in Healthy Volunteers (2018-10-04) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A Study to Assess FLX-787 in Subjects With Motor Neuron Disease Experiencing Muscle Cramps. (2018-08-29) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. International SMA Patient Registry (2018-08-07) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Prospective Study of the Natural History of Patients With Type 2 and 3 Spinal Muscular Atrophy (2018-07-19) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Autologous Bone Marrow-Derived Stem Cell Therapy for Motor Neuron Disease (2018-06-06) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. MRI in Patients With Kennedy Disease (2018-06-04) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Spinal Muscular Atrophy (SMA) Biomarkers Study in the Immediate Postnatal Period of Development (2018-05-04) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Enhance Wellness for Individuals With Long-Term Physical Disabilities (2018-04-03) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Safety and Efficacy Studies of Panobinostat and Bicalutamide in Patients With Recurrent Prostate Cancer After Castration (2018-02-07) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. High Intensity Training in Patients With Spinal and Bulbar Muscular Atrophy (2018-02-05) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. SPACE Trial: Pyridostigmine vs Placebo in SMA Types 2, 3 and 4 (2018-02-05) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Bicalutamide as A Treatment in AR-positive Metastatic Triple-Negative Breast Cancer (mTNBC) Patients (2018-01-23) ♡
- Converging Mechanisms of p53 Activation Drive Motor Neuron Degeneration in Spinal Muscular Atrophy. (2017/12/26) ♡
- Only some patients with bulbar and spinal muscular atrophy may develop cardiac disease. (2017/12/21) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Inhibition of autophagy delays motoneuron degeneration and extends lifespan in a mouse model of spinal muscular atrophy. (2017/12/20) ♡
- [Midterm clinical outcomes and radiological results of surgical treatment for Hirayama disease]. (2017/12/18) ♡
- SMA Diagnosis: Detection of SMN1 Deletion with Real-Time mCOP-PCR System Using Fresh Blood DNA. (2017/12/18) ♡
- Nonalcoholic fatty liver disease in spinal and bulbar muscular atrophy. (2017/12/12) ♡
- Lysine-Less Variants of Spinal Muscular Atrophy SMN and SMNΔ7 Proteins Are Degraded by the Proteasome Pathway. (2017/12/08) ♡
- 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. Motor Neuron Gene Therapy: Lessons from Spinal Muscular Atrophy for Amyotrophic Lateral Sclerosis. (2017/12/07) ♡
- Spinal Muscular Atrophy, types I and II: What are the differences in body composition and resting energy expenditure? (2017/12/01) ♡
- 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. A Historical and Current Review of Newborn Screening for Neuromuscular Disorders From Around the World: Lessons for the United States. (2017/12/01) ♡
- Changes in the soleus H-reflex test and correlations between its results and dynamic magnetic resonance imaging abnormalities in patients with Hirayama disease. (2017/12/01) ♡
- Expanded carrier screening in gamete donors of Venezuela. (2017/12/01) ♡
- 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. [Spinal muscular atrophy: Time for newborn screening?]. (2017/12/01) ♡
- Optimization of a series of heterocycles as survival motor neuron gene transcription enhancers. (2017/12/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Expanded access program with Nusinersen in SMA type I in Italy: Strengths and pitfalls of a successful experience. (2017/12/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. NeuroNEXT is at your service. (2017/12/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Natural history of infantile-onset spinal muscular atrophy. (2017/12/01) ♡
- What is in the Literature? (2017/12/01) ♡
- Gene Therapy Briefs. (2017/12/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Degeneration of the corticofugal tract from the secondary motor area in a Parkinson's disease patient with limb-kinetic apraxia: A case report. (2017/12/01) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Protective effects of long-term lithium administration in a slowly progressive SMA mouse model. (2017/12/01) ♡
- HuD and the Survival Motor Neuron Protein Interact in Motoneurons and Are Essential for Motoneuron Development, Function, and mRNA Regulation. (2017/11/29) ♡
- Indirect estimation of the prevalence of spinal muscular atrophy Type I, II, and III in the United States. (2017/11/28) ♡
- Magnetically Controlled Devices Parallel to the Spine in Children with Spinal Muscular Atrophy. (2017/11/28) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. An Atypical Clinical Presentation of Post-traumatic Syringomyelia: A Case Report and Brief Review of the Literature. (2017/11/16) ♡
- 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. A Multilayered Control of the Human Survival Motor Neuron Gene Expression by Alu Elements. (2017/11/15) ♡
- Binding to SMN2 pre-mRNA-protein complex elicits specificity for small molecule splicing modifiers. (2017/11/14) ♡
- A Comparison of mRNA Sequencing with Random Primed and 3'-Directed Libraries. (2017/11/07) ♡
- Analysis of correlation between degeneration of lower lumbar paraspinal muscles and spinopelvic alignment in patients with osteoporotic vertebral compression fracture. (2017/11/06) ♡
- Only some patients with bulbar and spinal muscular atrophy may develop cardiac disease. (2017/11/06) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. A second chance. (2017/11/03) ♡
- 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. Lipid Involvement in Neurodegenerative Diseases of the Motor System: Insights from Lysosomal Storage Diseases. (2017/11/03) ♡
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