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Spinal muscular atrophy (SMA)

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Search Period All yearsLast 12 monthsLast 5 years Topic All topicsGeneralNutrition and dietAlternative treatment methods Type of research Any type of researchHighest evidence only (55)Meta-analysis (4)Treatment guideline (3)Systematic review (20)Phase 3 study (16)Randomized controlled trial (12)Clinical trial (482)Review article (202)Early-stage study (phase 1 or 2) (13)Case report (127)Laboratory or animal study (39)Commentary or editorial (55) Studies currently recruiting participants only (34)

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Publications and studies (1657)

• Motor Unit Number Index (MUNIX) of hand muscles is a disease biomarker for adult spinal muscular atrophy. (2019/02/01) ♡
• Overexpression of SMN2 Gene in Motoneuron-Like Cells Differentiated from Adipose-Derived Mesenchymal Stem Cells by Ponasterone A. (2019/02/01) ♡
• 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. Mitochondrial health and muscle plasticity after spinal cord injury. (2019/02/01) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Reading the palm with MUNIX: A 'reversed split hand' in spinal muscular atrophy. (2019/02/01) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Spinal muscular atrophy with respiratory distress type 1: A multicenter retrospective study. (2019/02/01) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Health outcomes in spinal muscular atrophy type 1 following AVXS-101 gene replacement therapy. (2019/02/01) ♡
• Analysis of FUS, PFN2, TDP-43, and PLS3 as potential disease severity modifiers in spinal muscular atrophy. (2019/01/03) ♡
• Enhancing GABAergic Transmission Improves Locomotion in a Caenorhabditis elegans Model of Spinal Muscular Atrophy. (2019/01/02) ♡
• Clinical Features and Long-Term Surgical Outcomes of Patients with Cervical Spondylotic Amyotrophy. (2019/01/01) ♡
• Hirayama disease: analysis of cases in Russia. (2019/01/01) ♡
• Randomized researchiParticipants were divided into groups by lottery and compared with each other. This reduces the chance that a difference is due to something other than the treatment. A phase 1 healthy male volunteer single escalating dose study of the pharmacokinetics and pharmacodynamics of risdiplam (RG7916, RO7034067), a SMN2 splicing modifier. (2019/01/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Lumbosacral ventral spinal nerve root atrophy identified on MRI in a case of spinal muscular atrophy type II. (2019/01/01) ♡
• The reversible effect of neck flexion on the somatosensory evoked potentials in patients with Hirayama disease: a preliminary study. (2019/01/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. O'Sullivan-McLeod syndrome: Unmasking a rare atypical motor neuron disease. (2019/01/01) ♡
• Intrathecal administration of nusinersen in adolescent and adult SMA type 2 and 3 patients. (2019/01/01) ♡
• The spinal and cerebral profile of adult spinal-muscular atrophy: A multimodal imaging study. (2019/01/01) ♡
• Randomized researchiParticipants were divided into groups by lottery and compared with each other. This reduces the chance that a difference is due to something other than the treatment. The oral splicing modifier RG7800 increases full length survival of motor neuron 2 mRNA and survival of motor neuron protein: Results from trials in healthy adults and patients with spinal muscular atrophy. (2019/01/01) ♡
• Low Appendicular Lean Mass Index and Associations with Metabolic and Demographic Parameters in Wheelchair Athletes with Spinal Cord Injury. (2019/01/01) ♡
• 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. [Alternative splicing and the cure of spinal muscular atrophy]. (2019/01/01) ♡
• [Spinal muscular atrophy in samara region. Epidemiology, classification, prospects for health care]. (2019/01/01) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Effect of Functional Exercise in Patients With Spinal Bulbar Muscular Atrophy (2019-12-17) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Infants With Spinal Muscular Atrophy Type I (2019-12-12) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. SMN Copy Number Distribution in Mali, West Africa (2019-12-05) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Development of a Space Exploration Assessment for Children With Spinal Muscular Atrophy (2019-11-25) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A Patient Centric Motor Neuron Disease Activities of Daily Living Scale (2019-10-16) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A Pilot Therapeutic Trial Using Hydroxyurea in Type I Spinal Muscular Atrophy Patients (2019-10-02) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A Pilot Therapeutic Trial Using Hydroxyurea in Type II and Type III Spinal Muscular Atrophy Patients (2019-10-02) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A Registered Cohort Study on SMA (2019-09-23) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A Study to Evaluate Long Term Safety, Tolerability, and Effectiveness of Olesoxime in Patients With Spinal Muscular Atrophy (SMA) (2019-08-09) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Investigation of Parents' Anxiety Level and Health Related Quality of Life in Different Types of Physical Disabilities (2019-07-29) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Whole Body Vibration Therapy in Children With Spinal Muscular Atrophy (2019-07-26) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Natural History of Types 2 and 3 SMA in Taiwan (2019-07-26) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Identification of a Biomarker Associated With Cis-duplication of the SMN1 Gene (2019-07-24) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Spinal Sarcopenia Cohort Study (SarcoSpine) (2019-06-12) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Fat and Glucose Metabolism in Fed and Fasted State in Patients With Low Skeletal Muscle Mass (2019-05-31) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Safety and Immunogenicity of a Sabin Inactivated Poliovirus Vaccine. (2019-04-03) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Clinical Trial of a Serious Game for Individuals With SCI/D (2019-02-22) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Study of Feasibility to Reliably Measure Functional Abilities' Changes in Nonambulant Neuromuscular Patients Without Trial Site Visiting (2019-02-15) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. L-Citrulline in Patients With Post-Polio Syndrome (2019-01-23) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Reliability and Validity of the ACTIVE-mini for Quantifying Movement in Infants With Spinal Muscular Atrophy (2019-01-17) ♡
• Discovery of Small Molecule Splicing Modulators of Survival Motor Neuron-2 (SMN2) for the Treatment of Spinal Muscular Atrophy (SMA). (2018/12/27) ♡
• Diagnosis of Spinal Muscular Atrophy: A Simple Method for Quantifying the Relative Amount of Survival Motor Neuron Gene 1/2 Using Sanger DNA Sequencing. (2018/12/20) ♡
• 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 newborn infant with hypotonia and tongue fasciculations: it is not always spinal muscular atrophy]. (2018/12/16) ♡
• The neurodegenerative diseases ALS and SMA are linked at the molecular level via the ASC-1 complex. (2018/12/14) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Late onset of dropped head syndrome following mantle radiation therapy for Hodgkin lymphoma. (2018/12/14) ♡
• 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. Amyotrophic Lateral Sclerosis and its Mimics/Variants: A Comprehensive Review. (2018/12/06) ♡
• Multi-Study Proteomic and Bioinformatic Identification of Molecular Overlap between Amyotrophic Lateral Sclerosis (ALS) and Spinal Muscular Atrophy (SMA). (2018/12/04) ♡
• 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 novel VRK1 mutation associated with recessive distal hereditary motor neuropathy. (2018/12/03) ♡
• A retrospective cohort study of children with spinal muscular atrophy type 2 receiving anesthesia for intrathecal administration of nusinersen. (2018/12/01) ♡
• Randomized researchiParticipants were divided into groups by lottery and compared with each other. This reduces the chance that a difference is due to something other than the treatment. Safety, tolerability, and preliminary efficacy of an IGF-1 mimetic in patients with spinal and bulbar muscular atrophy: a randomised, placebo-controlled trial. (2018/12/01) ♡

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