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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)

• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Low fat diets increase survival of a mouse model of spinal muscular atrophy. (2019/11/01) ♡
• Early-stage study (phase 1 or 2)iEarly research in a small group, primarily aimed at safety and dosage. Whether it actually works still needs to be determined afterward. Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study. (2019/11/01) ♡
• 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-type Cervical Spondylolisthesis Muscular Atrophy in a Patient with Dupuytren Contracture: A Case Report]. (2019/11/01) ♡
• Patient-Reported Prevalence of Non-motor Symptoms Is Low in Adult Patients Suffering From 5q Spinal Muscular Atrophy. (2019/11/01) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. [Antisense oligonucleotides in SMA: lessons learned and literature data]. (2019/11/01) ♡
• [French adaptation of motor function scales for patients with spinal muscular atrophy]. (2019/11/01) ♡
• 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. [The Role of Mutant RNA in the Pathogenesis of Huntington's Disease and Other Polyglutamine Diseases]. (2019/11/01) ♡
• Muscle overexpression of Klf15 via an AAV8-Spc5-12 construct does not provide benefits in spinal muscular atrophy mice. (2019/11/01) ♡
• Estimation Of The Quality Of Life Benefits Associated With Treatment For Spinal Muscular Atrophy. (2019/10/25) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Congenital exercise ability ameliorates muscle atrophy but not spinal cord recovery in spinal cord injury mouse model. (2019/10/21) ♡
• LINGO-1 shRNA Loaded by Pluronic F-127 Promotes Functional Recovery After Ventral Root Avulsion. (2019/10/01) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Low-Intensity Running and High-Intensity Swimming Exercises Differentially Improve Energy Metabolism in Mice With Mild Spinal Muscular Atrophy. (2019/10/01) ♡
• A multidisciplinary approach to dosing nusinersen for spinal muscular atrophy. (2019/10/01) ♡
• Cognitive performance of children with spinal muscular atrophy: A systematic review. (2019/10/01) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Repeat Expansion Disorders: Mechanisms and Therapeutics. (2019/10/01) ♡
• Digital necrosis in an infant with severe spinal muscular atrophy. (2019/09/23) ♡
• 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. Benefits of curcumin in brain disorders. (2019/09/01) ♡
• Emergency room visits and admission rates of children with neuromuscular disorders: A 10-year experience in a medical center in Taiwan. (2019/08/01) ♡
• Abnormal fatty acid metabolism is a core component of spinal muscular atrophy. (2019/08/01) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Observations from a nationwide vigilance program in medical care for spinal muscular atrophy patients in Chile. (2019/07/29) ♡
• Spinal Muscular Atrophy: New Screening System with Real-Time mCOP-PCR and PCR-RFLP for SMN1 Deletion. (2019/07/16) ♡
• Spinal Muscular Atrophy: Advanced Version of Screening System with Real-Time mCOP-PCR and PCR-RFLP for SMN1 Deletion. (2019/07/16) ♡
• Nested PCR Amplification Secures DNA Template Quality and Quantity in Real-time mCOP-PCR Screening for SMA. (2019/07/16) ♡
• Evolution of bone mineral density, bone metabolism and fragility fractures in Spinal Muscular Atrophy (SMA) types 2 and 3. (2019/07/01) ♡
• Measurement of camptocormia trunk flexion using a dual-sensor measurement setup. (2019/07/01) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Calpain Inhibition Increases SMN Protein in Spinal Cord Motoneurons and Ameliorates the Spinal Muscular Atrophy Phenotype in Mice. (2019/06/01) ♡
• High Healthcare Resource Use in Hospitalized Patients with a Diagnosis of Spinal Muscular Atrophy Type 1 (SMA1): Retrospective Analysis of the Kids' Inpatient Database (KID). (2019/06/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Variant ataxia-telangiectasia with prominent camptocormia. (2019/05/01) ♡
• 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. Longitudinal evaluation of SMN levels as biomarker for spinal muscular atrophy: results of a phase IIb double-blind study of salbutamol. (2019/05/01) ♡
• New findings in facial-onset sensory and motor neuronopathy (FOSMN) syndrome. (2019/04/01) ♡
• Trehalose induces autophagy via lysosomal-mediated TFEB activation in models of motoneuron degeneration. (2019/04/01) ♡
• Phenotypic and molecular features underlying neurodegeneration of motor neurons derived from spinal and bulbar muscular atrophy patients. (2019/04/01) ♡
• Developing a systematic search strategy related to people with disability: A brief report testing the utility of proposed disability search terms in a search about opioid use. (2019/04/01) ♡
• BICD2 mutational analysis in hereditary spastic paraplegia and hereditary motor and sensory neuropathy. (2019/04/01) ♡
• Bojungikgi-tang Improves Muscle and Spinal Cord Function in an Amyotrophic Lateral Sclerosis Model. (2019/04/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. A case of Kennedy's disease misdiagnosed as polymyositis. (2019/03/01) ♡
• Insights into the genetic epidemiology of spinal and bulbar muscular atrophy: prevalence estimation and multiple founder haplotypes in the Veneto Italian region. (2019/03/01) ♡
• Abnormal Golgi morphology and decreased COPI function in cells with low levels of SMN. (2019/03/01) ♡
• Paraspinal muscle atrophy after posterior lumbar surgery with and without pedicle screw fixation with the classic technique. (2019/03/01) ♡
• Pre-Nusinersen Hospitalization Costs of Children With Spinal Muscular Atrophy. (2019/03/01) ♡
• Spinal Muscular Atrophy: Huge Steps. (2019/03/01) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. [Effect of electroacupuncture on muscular atrophy and Slit/Robo signaling in sciatic nerve and lumbar spinal cord tissues in rats with sciatic nerve injury]. (2019/02/25) ♡
• 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 dysfunction induces muscle atrophy during prolonged inactivity: A review of the causes and effects. (2019/02/15) ♡
• 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. Cell-Penetrating Peptide Conjugates of Steric Blocking Oligonucleotides as Therapeutics for Neuromuscular Diseases from a Historical Perspective to Current Prospects of Treatment. (2019/02/01) ♡
• Factors Affecting the Surgical Outcomes of Hirayama Disease: A Retrospective Analysis of Preoperative Magnetic Resonance Imaging Features of the Cervical Spine. (2019/02/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. A Severe Case of Hirayama Disease Successfully Treated by Posterior Cervical Fixation without Decompression and Fusion. (2019/02/01) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Zebrafish acid ceramidase: Expression in Pichia pastoris GS115and biochemical characterization. (2019/02/01) ♡
• Intrathecal nusinersen treatment for SMA in a dedicated neuromuscular clinic: an example of multidisciplinary and integrated care. (2019/02/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Amyotrophic lateral sclerosis of long clinical course clinically presenting with progressive muscular atrophy. (2019/02/01) ♡
• Bereaved Parents More Satisfied With the Care Given to Their Child With Severe Spinal Muscular Atrophy Than Nonbereaved. (2019/02/01) ♡

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