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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)

• Measurement properties of the EQ-5D-5L and PROPr in patients with spinal muscular atrophy. (2023/11/15) ♡
• 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. Role of circulating biomarkers in spinal muscular atrophy: insights from a new treatment era. (2023/11/13) ♡
• 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 in Ghanaian children confirmed by molecular genetic testing: a case series. (2023/11/09) ♡
• Lowered oxidative capacity in spinal muscular atrophy, Jokela type; comparison with mitochondrial muscle disease. (2023/11/08) ♡
• Identification of a Novel Acid Sphingomyelinase Activity Associated with Recombinant Human Acid Ceramidase. (2023/11/06) ♡
• Cognitive impairment in Chinese adult patients with type III spinal muscular atrophy without disease-modifying treatment. (2023/11/03) ♡
• Significant healthcare burden and life cost of spinal muscular atrophy: real-world data. (2023/11/01) ♡
• EQ-5D and SF-6D health utility scores in patients with spinal and bulbar muscular atrophy. (2023/11/01) ♡
• Gene therapy in spinal muscular atrophy. (2023/11/01) ♡
• Gene therapy for neurodegenerative disorders in children: dreams and realities. (2023/11/01) ♡
• Correction: Onasemnogene Abeparvovec for Treating Pre-symptomatic Spinal Muscular Atrophy: An External Assessment Group Perspective of the Partial Review of NICE Highly Specialised Technology Evaluation 15. (2023/11/01) ♡
• Bone Health Status of Children with Spinal Muscular Atrophy. (2023/11/01) ♡
• Real-time ultrasound-guided transforaminal approach for successful intrathecal injection in patients with severe scoliosis and spinal muscular atrophy- Case studies. (2023/11/01) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Glycine and N-Acetylcysteine (GlyNAC) Combined with Body Weight Support Treadmill Training Improved Spinal Cord and Skeletal Muscle Structure and Function in Rats with Spinal Cord Injury. (2023/10/28) ♡
• 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. Muscle Involvement in Amyotrophic Lateral Sclerosis: Understanding the Pathogenesis and Advancing Therapeutics. (2023/10/26) ♡
• 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. Spinal and bulbar muscular atrophy: Kennedy's disease and its first description by Hiroshi Kawahara in 1897. (2023/10/26) ♡
• 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. Gene and Cellular Therapies for Leukodystrophies. (2023/10/24) ♡
• Frequency and satisfaction of conventional and complementary or alternative therapies for neuromuscular disorders. (2023/10/12) ♡
• Neurological and Psychiatric Aspects of Biological Markers for the Provision of Medical Care to Patients with Spinal Muscular Atrophy 5q. (2023/10/01) ♡
• 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. Spinal Muscular Atrophy. (2023/10/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Sequential treatment with nusinersen, Zolgensma(®) and risdiplam in a paediatric patient with spinal muscular atrophytype 1: a case report. (2023/09/30) ♡
• Pregnancy experience in women with spinal muscular atrophy: a case series. (2023/09/30) ♡
• Proposal of a new clinical protocol for evaluating fatigability in adult SMA patients. (2023/09/30) ♡
• 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: A case of spinal muscular atrophy in a preterm infant: risks and benefits of treatment. (2023/09/12) ♡
• 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. Gastrointestinal and nutritional care in pediatric neuromuscular disorders. (2023/09/09) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Nutritional rickets masquerading as spinal muscular atrophy type III. (2023/09/01) ♡
• Open-labelled study to monitor the effect of an amino acid formula on symptom management in children with spinal muscular atrophy type I: The SMAAF pilot study. (2023/08/01) ♡
• 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. Glucagon-like peptide-1 analog therapy in rare genetic diseases: monogenic obesity, monogenic diabetes, and spinal muscular atrophy. (2023/08/01) ♡
• Onasemnogene abeparvovec preserves bulbar function in infants with presymptomatic spinal muscular atrophy: a post-hoc analysis of the SPR1NT trial. (2023/08/01) ♡
• 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. Oxidative stress: Roles in skeletal muscle atrophy. (2023/08/01) ♡
• Increased SIRT3 combined with PARP inhibition rescues motor function of SBMA mice. (2023/07/22) ♡
• Quality appraisal of clinical practice guidelines for motor neuron diseases or related disorders using the AGREE II instrument. (2023/07/17) ♡
• Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: towards specific guidelines and standard operating procedures for the molecular diagnosis. (2023/07/01) ♡
• Perceived exertion is not a substitute for fatiguability in spinal muscular atrophy. (2023/07/01) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Translating fatigability in spinal muscular atrophy to clinical trials and management. (2023/07/01) ♡
• A preliminary study on self-care telemonitoring of dysarthria in spinal muscular atrophy. (2023/07/01) ♡
• 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. Dietary Implications of the Bidirectional Relationship between the Gut Microflora and Inflammatory Diseases with Special Emphasis on Irritable Bowel Disease: Current and Future Perspective. (2023/06/29) ♡
• Unilateral Biportal Endoscopy for Lumbar Spinal Stenosis and Lumbar Disc Herniation. (2023/06/27) ♡
• Type I spinal muscular atrophy patients treated with nusinersen: 4-year follow-up of motor, respiratory and bulbar function. (2023/06/01) ♡
• Glycerol induced paraspinal muscle degeneration leads to hyper-kyphotic spinal deformity in wild-type mice. (2023/05/20) ♡
• Nusinersen for spinal muscular atrophy types II and III: a retrospective single-center study in South Korea. (2023/05/01) ♡
• 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. Management of spine deformity secondary to facioscapulohumeral dystrophy in pediatric patients. A case description and a literature review. (2023/05/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Fatal congenital copper transport defect caused by a homozygous likely pathogenic variant of SLC31A1. (2023/05/01) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. A severely affected adult type 2 spinal muscular atrophy patient treated with risdiplam. (2023/04/01) ♡
• A breakthrough effect of gene replacement therapy on respiratory outcomes in children with spinal muscular atrophy. (2023/04/01) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Metabolic assessment in children with neuromuscular disorders shows risk of liver enlargement, steatosis and fibrosis. (2023/04/01) ♡
• Correction: Noguchi et al. PCR-Based Screening of Spinal Muscular Atrophy for Newborn Infants in Hyogo Prefecture, Japan. Genes 2022, 13, 2110. (2023/03/21) ♡
• Prevalence of Spinal Muscular Atrophy in the Era of Disease-Modifying Therapies: An Italian Nationwide Survey. (2023/03/14) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Spinal muscular atrophy and anorexia nervosa: a case report. (2023/03/14) ♡
• Budget Impact Analysis of Nusinersen for Spinal Muscular Atrophy in China. (2023/03/01) ♡

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