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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 (56) Studies currently recruiting participants only (34)

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Publications and studies (1659)

• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Respiratory Muscle Training in Patients With Spinal Muscular Atrophy (SMA). (2022-11-30) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Metabolomics of Children With SMA (2022-11-10) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Myotonometer Intra- and Inter Examiner Reliability on Spinal Muscular Atrophy (2022-10-25) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Spinal Muscular Atrophy on Wheels, Using Power Mobility (2022-10-21) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Reliability and Validity of the Turkish Version of the PedsQL 3.0 Neuromuscular Module for 2-to 4- Year-old (2022-09-19) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Gene Transfer Clinical Trial for Spinal Muscular Atrophy Type 1 (2022-09-15) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Musculoskeletal Nociceptive Pain in Participants With Neuromuscular Disorders (2022-08-24) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Genomic Translation for Amyotrophic Lateral Sclerosis Care (2022-08-19) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Study of Hepatic Function in Patients With Spinal and Bulbar Muscular Atrophy (2022-08-18) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Improving Standards of Care and Translational Research in Spinal Muscular Atrophy (SMA) (2022-08-17) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Examination of Lower Urinary System Symptoms With Duchenne Muscular Dystrophy (2022-07-19) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Transmembrane Electromyography (TM-EMG) for the Assessment of Neuromuscular Function in the Oropharynx (2022-06-21) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Exoskeleton Impact on the Quality of Life on Patients With Spinal Muscular Atrophy (2022-06-13) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Extreme Lateral Interbody FusionFUSION (XLIF) Versus Posterior Lumbar Interbody Fusion (PLIF) (2022-05-19) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Trial Evaluating the Interest of Noninvasive Ventilation in NAVA Mode in Respiratory Decompensations Children With Infantile Spinal Muscular Atrophy Type II (2022-03-29) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Biomarker for Duchenne Muscular Dystrophy (2022-03-24) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Procedural Sedation for Pediatric Patients With Spinal Muscular Atrophy (2022-03-23) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A Peer E-mentoring Intervention to Improve Employment (2022-03-11) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Innovative Ultrasound Technology in Neuromuscular Disease (2022-03-11) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Oxidative Capacity and Exercise Tolerance in Ambulatory SMA (2022-03-08) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Newborn Screening for Spinal Muscular Atrophy (SMA) - a Proof of Principle Study Using Anonymised Blood Spots. (2022-02-14) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Awareness Levels of Caregivers of Disabled Children (2022-02-08) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Antisense Oligonucleotide for Spinal Muscular Atrophy (2022-01-26) ♡
• Heterozygous DHTKD1 Variants in Two European Cohorts of Amyotrophic Lateral Sclerosis Patients. (2021/12/29) ♡
• The Birth Prevalence of Spinal Muscular Atrophy: A Population Specific Approach in Estonia. (2021/12/22) ♡
• 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. Potential Applications for Targeted Gene Therapy to Protect Against Anthracycline Cardiotoxicity: JACC: CardioOncology Primer. (2021/12/21) ♡
• Application Value of the Motor Unit Number Index in Patients With Kennedy Disease. (2021/12/21) ♡
• Spinal Cord Involvement in Adult Mitochondrial Diseases: A Cohort Study. (2021/12/21) ♡
• 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. [Early diagnosis of spinal muscular atrophy]. (2021/12/20) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Case report of pregnancy management and genetic evaluation after negative carrier screening for spinal muscular atrophy in an affected family. (2021/12/17) ♡
• Spinal Muscular Atrophy Patient iPSC-Derived Motor Neurons Display Altered Proteomes at Early Stages of Differentiation. (2021/12/15) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Characterization of Neuromuscular Junctions in Mice by Combined Confocal and Super-Resolution Microscopy. (2021/12/08) ♡
• 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. Lessons Learned From Translational Research in Neuromuscular Diseases: Impact on Study Design, Outcome Measures and Managing Expectation. (2021/12/07) ♡
• Protein network analysis to prioritize key genes in amyotrophic lateral sclerosis. (2021/12/07) ♡
• The economic impact of compassionate use of medicines. (2021/12/04) ♡
• 7',5'-alpha-bicyclo-DNA: new chemistry for oligonucleotide exon splicing modulation therapy. (2021/12/02) ♡
• Prolonged fasting-induced hyperketosis, hypoglycaemia and impaired fat oxidation in child and adult patients with spinal muscular atrophy type II. (2021/12/01) ♡
• Nusinersen for Spinal Muscular Atrophy in the United States: Findings From a Retrospective Claims Database Analysis. (2021/12/01) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Selective Myostatin Inhibition Spares Sublesional Muscle Mass and Myopenia-Related Dysfunction after Severe Spinal Cord Contusion in Mice. (2021/12/01) ♡
• 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. Models for IGHMBP2-associated diseases: an overview and a roadmap for the future. (2021/12/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Spinal Muscular Atrophy with Respiratory Distress<br /> Type 1: A Novel Variant of IGHMBP2 Gene. (2021/12/01) ♡
• Use of prescriber requirements among US commercial health plans. (2021/12/01) ♡
• Nusinersen: A Review in 5q Spinal Muscular Atrophy. (2021/12/01) ♡
• Combination Therapy with Nusinersen and Onasemnogene Abeparvovec-xioi in Spinal Muscular Atrophy Type I. (2021/11/26) ♡
• 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. Exploring the Diverse Functional and Regulatory Consequences of Alternative Splicing in Development and Disease. (2021/11/24) ♡
• 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 case series of paediatric patients with spinal muscular atrophy type I undergoing scoliosis correction surgery. (2021/11/17) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Improvement in Fine Manual Dexterity in Children with Spinal Muscular Atrophy Type 2 after Nusinersen Injection: A Case Series. (2021/11/11) ♡
• Multispectral optoacoustic tomography for non-invasive disease phenotyping in pediatric spinal muscular atrophy patients. (2021/11/10) ♡
• Bioinformatic analysis of the gene expression profile in muscle atrophy after spinal cord injury. (2021/11/09) ♡
• De Novo Variants in the DYNC1H1 Gene Associated With Infantile Spasms. (2021/11/05) ♡

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