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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)

• Identification of SRSF10 as a regulator of SMN2 ISS-N1. (2021/03/01) ♡
• A rapid molecular diagnostic method for spinal muscular atrophy. (2021/03/01) ♡
• Correlation of Pulmonary Function to Novel Radiographic Parameters of Collapsing Parasol Deformity in Spinal Muscular Atrophy. (2021/03/01) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Spinal motor neuron loss occurs through a p53-and-p21-independent mechanism in the Smn(2B/-) mouse model of spinal muscular atrophy. (2021/03/01) ♡
• Nusinersen treatment of older children and adults with spinal muscular atrophy. (2021/03/01) ♡
• Correlates of Fatigability in Patients With Spinal Muscular Atrophy. (2021/02/09) ♡
• 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. Current Clinical Applications of In Vivo Gene Therapy with AAVs. (2021/02/03) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Is it time to re-think juvenile-onset Rheumatic and Musculoskeletal Diseases? - First steps towards individualised treatments to meet agreed targets. (2021/02/01) ♡
• The cutaneous silent period in motor neuron disease. (2021/02/01) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Natural history of Type 2 and 3 spinal muscular atrophy: 2-year NatHis-SMA study. (2021/02/01) ♡
• 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. Patient-derived iPSC modeling of rare neurodevelopmental disorders: Molecular pathophysiology and prospective therapies. (2021/02/01) ♡
• Feeding difficulties in children and adolescents with spinal muscular atrophy type 2. (2021/02/01) ♡
• 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. [Definitions and MR imaging of duropathies]. (2021/01/29) ♡
• Discovery of a neuromuscular syndrome caused by biallelic variants in ASCC3. (2021/01/21) ♡
• Clinical Phenotyping and Biomarkers in Spinal and Bulbar Muscular Atrophy. (2021/01/20) ♡
• 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. The Relationship between Body Composition, Fatty Acid Metabolism and Diet in Spinal Muscular Atrophy. (2021/01/20) ♡
• Chronic Pharmacological Increase of Neuronal Activity Improves Sensory-Motor Dysfunction in Spinal Muscular Atrophy Mice. (2021/01/13) ♡
• 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. Communication skills among children with spinal muscular atrophy type 1: A parent survey. (2021/01/02) ♡
• Characterization of Reference Materials for Spinal Muscular Atrophy Genetic Testing: A Genetic Testing Reference Materials Coordination Program Collaborative Project. (2021/01/01) ♡
• Functional Abnormalities of Cerebellum and Motor Cortex in Spinal Muscular Atrophy Mice. (2021/01/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. A 5-year-old boy with acute neurological disorder from anteflexion-induced cervical cord compression after tracheal surgery: Radiological findings similar to Hirayama disease. (2021/01/01) ♡
• Risdiplam treatment has not led to retinal toxicity in patients with spinal muscular atrophy. (2021/01/01) ♡
• 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. Targeting Nrf2 for the treatment of Duchenne Muscular Dystrophy. (2021/01/01) ♡
• Altered supraspinal motor networks in survivors of poliomyelitis: A cortico-muscular coherence study. (2021/01/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Novel PLEKHG5 mutations in a patient with childhood-onset lower motor neuron disease. (2021/01/01) ♡
• The Influence of "Loss of Attachment" on the Outcome of Anterior Cervical Fusion Procedures in Patients With Hirayama Disease. (2021/01/01) ♡
• Children and young adults with spinal muscular atrophy treated with nusinersen. (2021/01/01) ♡
• A Decision for Life - Treatment decisions in newly diagnosed families with spinal muscular atrophy (SMA). (2021/01/01) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Response to letter: A decision for life - Treatment decisions in newly diagnosed families with spinal muscular atrophy. (2021/01/01) ♡
• SMN Depleted Mice Offer a Robust and Rapid Onset Model of Nonalcoholic Fatty Liver Disease. (2021/01/01) ♡
• Nusinersen treatment of Spinal Muscular Atrophy Type 1 - results of expanded access programme in Poland. (2021/01/01) ♡
• 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. Mediterranean Diet, Brain and Muscle: Olive Polyphenols and Resveratrol Protection in Neurodegenerative and Neuromuscular Disorders. (2021/01/01) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. The Effect of Androgen Receptor Polymorphism on Endometrial Cancer (2021-12-15) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. The Effectiveness of Participation-focused Interventions on Body Functions of Youth With Physical Disabilities (2021-12-14) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Public Attitudes Towards SMA and DMD Awareness, Newborn and Carrier Screening and Physiotherapy Practices (2021-11-10) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Adults With SMA Treated With Nusinersen (2021-09-22) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. European Registry of Patients With Infantile-onset Spinal Muscular Atrophy (2021-09-13) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Cabazitaxel in mCRPC Patients With AR-V7 Positive Circulating Tumor Cells (CTCs) (2021-08-20) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Telerehabilitation in Proximal Muscle Weakness (2021-07-07) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Pulmonary Function Test Changes and Respiratory Muscle Strength Trends in Spinal Muscular Atrophy Patients Receiving Nusinersen Treatments (2021-06-29) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Association Between Lumbar Muscle Atrophy, Sagittal Pelvic Alignment and Stenosis Grade in Patients With Degenerative Lumbar Spinal Stenosis (2021-06-18) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Controlled Trial to Evaluate Amifampridine Phosphate in Spinal Muscular Atrophy Type 3 Patients (2021-06-01) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Study to Compare Capsule and Liquid Formulations of Enzalutamide After Single Dose Administration Under Fasting Conditions in Prostate Cancer (2021-05-10) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Pilot Study of an Innovative Physiotherapy in Patients With Infantile Spinal Muscular Atrophy (SMA) (2021-05-03) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Characterization of the Clinical-epidemiological Profile of Patients With SMA5q Types II and III: Observational Study (2021-04-27) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Prenatal Carrier Screening for Spinal Muscular Atrophy Among Thai Pregnant Women (2021-04-26) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. An Open-label Safety, Tolerability and Dose-Range Finding Study of Multiple Doses of Nusinersen (ISIS 396443) in Participants With Spinal Muscular Atrophy (2021-04-13) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Evaluation of the Exoskeleton ATLAS 2030 as Robot-assisted Physical Therapy to Children With Neuromuscular Diseases (2021-04-08) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Expanded Access Program (EAP) for Nusinersen in Participants With Infantile-onset (Consistent With Type 1) Spinal Muscular Atrophy (SMA) (2021-04-05) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Hyperkinetic Movements in Patients With Disease of Motor Neurons and Their Response to Treatment With Nusinersen (2021-04-01) ♡

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