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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)

• Comprehensive nutritional and metabolic assessment in patients with spinal muscular atrophy: Opportunity for an individualized approach. (2018/06/01) ♡
• Treatment guidelineiAn official agreement between doctors about how this disease should be treated. This is not a single study but the conclusion of an entire medical field. Spinal muscular atrophy 5Q - Treatment with nusinersen. (2018/06/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Successful use of extracorporeal membrane oxygenation in a child with obstructive shock due to massive bilateral pulmonary embolism. (2018/05/01) ♡
• Subthalamic deep brain stimulation and trunk posture in Parkinson's disease. (2018/05/01) ♡
• 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 motor neuron involvement in a patient with homozygous PRUNE mutation. (2018/05/01) ♡
• Interventions Targeting Glucocorticoid-Krüppel-like Factor 15-Branched-Chain Amino Acid Signaling Improve Disease Phenotypes in Spinal Muscular Atrophy Mice. (2018/05/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Perioral and tongue fasciculations in Kennedy's disease. (2018/04/01) ♡
• An Evidence-Based, Community-Engaged Approach to Develop an Interactive Deliberation Tool for Pediatric Neuromuscular Trials. (2018/04/01) ♡
• Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests. (2018/04/01) ♡
• 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 BICD2 mutation in a Japanese family with autosomal dominant lower extremity-predominant spinal muscular atrophy-2. (2018/04/01) ♡
• 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. ASAH1-Related Disorders. (2018/03/29) ♡
• Effects of pharmacologic sclerostin inhibition or testosterone administration on soleus muscle atrophy in rodents after spinal cord injury. (2018/03/26) ♡
• Electrochemical immunosensors for the detection of survival motor neuron (SMN) protein using different carbon nanomaterials-modified electrodes. (2018/03/15) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. New Frontiers in the Treatment of Spinal Muscular Atrophy. (2018/03/14) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Imaging muscle as a potential biomarker of denervation in motor neuron disease. (2018/03/01) ♡
• 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. Making sense of antisense oligonucleotides: A narrative review. (2018/03/01) ♡
• 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. To the end of the line: Axonal mRNA transport and local translation in health and neurodegenerative disease. (2018/03/01) ♡
• Evaluation of activities of daily living in patients with slowly progressive neuromuscular diseases. (2018/03/01) ♡
• Transforaminal intrathecal delivery of nusinersen using cone-beam computed tomography for children with spinal muscular atrophy and extensive surgical instrumentation: early results of technical success and safety. (2018/03/01) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Completed FDA feasibility trial of surgically placed temporary diaphragm pacing electrodes: A promising option to prevent and treat respiratory failure. (2018/03/01) ♡
• Detection of early nocturnal hypoventilation in neuromuscular disorders. (2018/03/01) ♡
• 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. AAV gene delivery to the spinal cord: serotypes, methods, candidate diseases, and clinical trials. (2018/03/01) ♡
• A missense mutation in DYNC1H1 gene causing spinal muscular atrophy - Lower extremity, dominant. (2018/03/01) ♡
• Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics. (2018/03/01) ♡
• The SMN1 common variant c.22 dupA in Chinese patients causes spinal muscular atrophy by nonsense-mediated mRNA decay in humans. (2018/02/20) ♡
• The developmental and genetic basis of 'clubfoot' in the peroneal muscular atrophy mutant mouse. (2018/02/08) ♡
• Recessive distal motor neuropathy with pyramidal signs in an Omani kindred: underlying novel mutation in the SIGMAR1 gene. (2018/02/01) ♡
• 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. miRNA in spinal muscular atrophy pathogenesis and therapy. (2018/02/01) ♡
• Restoration of SMN expression in mesenchymal stem cells derived from gene-targeted patient-specific iPSCs. (2018/02/01) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Genetic therapies for spinal muscular atrophy type 1. (2018/02/01) ♡
• More Clinical Mimics of Infant Botulism. (2018/02/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Pre-emptive awake airway management under dexmedetomidine sedation in a parturient with spinal muscular atrophy type-2. (2018/02/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Distal myopathy due to BICD2 mutations. (2018/02/01) ♡
• The Canadian Neuromuscular Disease Registry: Connecting patients to national and international research opportunities. (2018/02/01) ♡
• 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. Neuromuscular diseases: Diagnosis and management. (2018/02/01) ♡
• Treatment guidelineiAn official agreement between doctors about how this disease should be treated. This is not a single study but the conclusion of an entire medical field. Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care. (2018/02/01) ♡
• Self-oligomerization regulates stability of survival motor neuron protein isoforms by sequestering an SCF(Slmb) degron. (2018/01/15) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Endocrinal description of two Chinese Kennedy's disease pedigrees. (2018/01/01) ♡
• Parents' advice to healthcare professionals working with children who have spinal muscular atrophy. (2018/01/01) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Motor neuron disease: Positive trial results published for ground-breaking SMA therapies. (2018/01/01) ♡
• 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. Camptocormia: New Signs in an Old Syndrome. (2018/01/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Spinal muscular atrophy with progressive myoclonic epilepsy linked to mutations in ASAH1. (2018/01/01) ♡
• Newborn genetic screening for spinal muscular atrophy in the UK: The views of the general population. (2018/01/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Severe camptocormia due to myositis of paraspinal muscles as an early manifestation of Parkinson's disease. (2018/01/01) ♡
• 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. Antisense oligonucleotides: the next frontier for treatment of neurological disorders. (2018/01/01) ♡
• Single-center experience with intrathecal administration of Nusinersen in children with spinal muscular atrophy type 1. (2018/01/01) ♡
• Clinical phenotypes and trajectories of disease progression in type 1 spinal muscular atrophy. (2018/01/01) ♡
• [S2 Alar-Iliac Screws in Fixation and Correction of Combined Neuromuscular Spinal and Pelvic Deformities]. (2018/01/01) ♡
• 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. Using Systems Biology and Mathematical Modeling Approaches in the Discovery of Therapeutic Targets for Spinal Muscular Atrophy. (2018/01/01) ♡
• Possible Role of the Polyglutamine Elongation in Evolution of Amyloid-Related Evolvability. (2018/01/01) ♡

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