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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 (1202)

• Spinal Irisin Gene Delivery Attenuates Burn Injury-Induced Muscle Atrophy by Promoting Axonal Myelination and Innervation of Neuromuscular Junctions. (2022/12/14) ♡
• The quality of life in children with spinal muscular atrophy: a case-control study. (2022/12/12) ♡
• Addressing the implementation gap in advanced therapeutics for spinal muscular atrophy in the era of newborn screening programs. (2022/12/12) ♡
• Randomized double-blind placebo-controlled crossover trial with pyridostigmine in spinal muscular atrophy types 2-4. (2022/12/09) ♡
• Prospective Analysis of Functional and Structural Changes in Patients with Spinal Muscular Atrophy-A Pilot Study. (2022/12/08) ♡
• Social Media as a Source of Knowledge about Gene Therapy for Spinal Muscular Atrophy. (2022/12/04) ♡
• 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. NSC Physiological Features in Spinal Muscular Atrophy: SMN Deficiency Effects on Neurogenesis. (2022/12/02) ♡
• 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 diagnosis of spinal muscular atrophy in a patient with Down syndrome]. (2022/12/01) ♡
• In FUS[1-359]-tg mice O,S-dibenzoyl thiamine reduces muscle atrophy, decreases glycogen synthase kinase 3 beta, and normalizes the metabolome. (2022/12/01) ♡
• Long term follow-up of scoliosis progression in type II SMA patients. (2022/12/01) ♡
• Carrier frequency of Spinal muscular atrophy in individuals of a reproductive age group from North India. (2022/12/01) ♡
• 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. Tissue Engineering Applied to Skeletal Muscle: Strategies and Perspectives. (2022/11/30) ♡
• 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. Emerging Perspectives on Gene Therapy Delivery for Neurodegenerative and Neuromuscular Disorders. (2022/11/30) ♡
• Parental Burden and Quality of Life in 5q-SMA Diagnosed by Newborn Screening. (2022/11/26) ♡
• 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. The roles of HSP40/DNAJ protein family in neurodegenerative diseases. (2022/11/25) ♡
• 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. Newborn screening and gene therapy in SMA: Challenges related to vaccinations. (2022/11/23) ♡
• A comparative analysis of body composition assessment by BIA and DXA in children with type II and III spinal muscular atrophy. (2022/11/18) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Clinical characterizations of three adults with genetically confirmed spinal muscular atrophy: a case series. (2022/11/15) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A randomised controlled trial of acceptance and commitment therapy plus usual care compared to usual care alone for improving psychological health in people with motor neuron disease (COMMEND): study protocol. (2022/11/15) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Thoracic Jia-Ji electro-acupuncture mitigates low skeletal muscle atrophy and improves motor function recovery following thoracic spinal cord injury in rats. (2022/11/15) ♡
• SMA-linked SMN mutants prevent phase separation properties and SMN interactions with FMRP family members. (2022/11/14) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Kennedy's disease presented with mastication fatigue combined with positive titin antibody: a case report. (2022/11/14) ♡
• PCR-Based Screening of Spinal Muscular Atrophy for Newborn Infants in Hyogo Prefecture, Japan. (2022/11/14) ♡
• Knowledge of genetic test results among caregivers and individuals with spinal muscular atrophy. (2022/11/08) ♡
• A link between agrin signalling and Ca(v)3.2 at the neuromuscular junction in spinal muscular atrophy. (2022/11/08) ♡
• p53-dependent c-Fos expression is a marker but not executor for motor neuron death in spinal muscular atrophy mouse models. (2022/11/07) ♡
• 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 Oligonucleotide Therapy for the Nervous System: From Bench to Bedside with Emphasis on Pediatric Neurology. (2022/11/05) ♡
• Thoracolumbar Sacral Orthosis for Spinal Fractures: What's the Evidence and Do Patients Use Them? (2022/11/05) ♡
• Robust Generation of Ready-to-Use Cryopreserved Motor Neurons from Human Pluripotent Stem Cells for Disease Modeling. (2022/11/03) ♡
• Clinical follow-up analysis of multidisciplinary treatment of children with spinal muscular atrophy. (2022/11/02) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Spinal Muscular Atrophy: Family and Provider Perspectives. (2022/11/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Anesthetic and surgical management of tracheotomy in a patient with Kennedy's Disease. (2022/11/01) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Expanding the spectrum of TBK1-related disorders: Adult-onset non-5q spinal muscular atrophy. (2022/11/01) ♡
• Assessment of health-related quality of life in patients with spinal muscular atrophy in China. (2022/11/01) ♡
• Analysis of scores of Symptom Checklist 90 (SCL-90) questionnaire of 182 parents of children with spinal muscular atrophy: a cross-sectional study. (2022/11/01) ♡
• Genetic and Clinical Spectrum of GNE Myopathy in Russia. (2022/10/31) ♡
• Population-based assessment of nusinersen efficacy in children with spinal muscular atrophy: a 3-year follow-up study. (2022/10/31) ♡
• Biological networks and complexity in early-onset motor neuron diseases. (2022/10/21) ♡
• 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 Mutation in the NAGLU (N-Acetyl-Alpha-Glucosaminidase) Gene Associated With Mucopolysaccharidosis Type III-B in a Saudi Girl. (2022/10/20) ♡
• 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. Calpain-mediated proteolysis as driver and modulator of polyglutamine toxicity. (2022/10/19) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Celastrol and Rhynchophylline in the mitigation of simulated muscle atrophy under in vitro. (2022/10/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Switching therapies: safety profile of Onasemnogene abeparvovec-xioi in a SMA1 patient previously treated with Risdiplam. (2022/09/30) ♡
• Premature delivery in the domestic sow in response to in utero delivery of AAV9 to fetal piglets. (2022/09/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. X-linked myotubular myopathy associated with an MTM1 variant in a Maine coon cat. (2022/09/01) ♡
• Shenkang injection protects against renal fibrosis by reducing perforin expression through the STING/TBK1/IRF3 signaling pathways in natural killer cells. (2022/09/01) ♡
• 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. Update on spinal muscular atrophy treatment. (2022/08/30) ♡
• Association between serum zinc level and lipid profiles in children with spinal muscular atrophy. (2022/08/15) ♡
• Vitamin D inadequacy combined with high BMI affects paraspinal muscle atrophy and pain intensity in postmenopausal women. (2022/08/01) ♡
• Scoliosis in Spinal Muscular Atrophy Type 1 in the Nusinersen Era. (2022/08/01) ♡
• Coaxial Synthesis of PEI-Based Nanocarriers of Encapsulated RNA-Therapeutics to Specifically Target Muscle Cells. (2022/07/22) ♡

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