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Spinal muscular atrophy (SMA)
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Publications and studies (1659)
- [Diagnosis and treatment of 11 patients with cervical spondylotic amyotrophy]. (2023/12/25) ♡
- Gene replacement therapy in spinal muscular atrophy: filling the data gaps. (2023/12/22) ♡
- Nusinersen demonstrates effectiveness in treating spinal muscular atrophy: findings from a three-year nationwide study in Korea. (2023/12/20) ♡
- 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. Current Advances in Genetic Testing for Spinal Muscular Atrophy. (2023/12/20) ♡
- Efficient generation of a self-organizing neuromuscular junction model from human pluripotent stem cells. (2023/12/19) ♡
- Efficacy and safety of salbutamol in treatment of children with later-onset spinal muscular atrophy. (2023/12/17) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Pregnancy in a Patient with Spinal Muscular Atrophy and Severe Restrictive Lung Disease. (2023/12/15) ♡
- Dysregulation of innate immune signaling in animal models of Spinal Muscular Atrophy. (2023/12/15) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Newborn Screening for Spinal Muscular Atrophy: A 2.5-Year Experience in Hyogo Prefecture, Japan. (2023/12/14) ♡
- Paradoxical increase of neurofilaments in SMA patients treated with onasemnogene abeparvovec-xioi. (2023/12/13) ♡
- Neonatal screening for spinal muscular atrophy: A pilot study in Brazil. (2023/12/11) ♡
- 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: Prenatal diagnosis in the fetus of a couple with both thalassemia and deafness genes. (2023/12/11) ♡
- 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. Evaluation of Chemically Modified Nucleic Acid Analogues for Splice Switching Application. (2023/12/11) ♡
- Efficacy and safety of onasemnogene abeparvovec in children with spinal muscular atrophy type 1: real-world evidence from 6 infusion centres in the United Kingdom. (2023/12/11) ♡
- Impact of deep brain stimulation therapy on the vertebral sagittal balance in Parkinson's disease patients. (2023/12/08) ♡
- Assessing the Assisted Six-Minute Cycling Test as a Measure of Endurance in Non-Ambulatory Patients with Spinal Muscular Atrophy (SMA). (2023/12/08) ♡
- Structured Light Plethysmography for Non-Invasive Assessment of Respiratory Pattern in Spinal Muscular Atrophy Type 1. (2023/12/07) ♡
- Motor fiber function in spinal muscular atrophy-analysis of conduction velocity distribution. (2023/12/07) ♡
- Study on the efficacy, safety, and biomarkers of nusinersen in type II and III spinal muscular atrophy in children. (2023/12/04) ♡
- Real-world safety of nusinersen in Japan: results from an interim analysis of a post-marketing surveillance and safety database. (2023/12/01) ♡
- Studying carrier frequency of spinal muscular atrophy in the State of Qatar and comparison to other ethnic groups: Pilot study. (2023/12/01) ♡
- Nusinersen for Spinal Muscular Atrophy Type I with Chronic Respiratory Failure: A Retrospective Study in South Korea. (2023/12/01) ♡
- Safety Concerns with Nusinersen, Risdiplam, and Onasemnogene Abeparvovec in Spinal Muscular Atrophy: A Real-World Pharmacovigilance Study. (2023/12/01) ♡
- [Expand neonatal screening]. (2023/12/01) ♡
- 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. Viral Vectors in Gene Replacement Therapy. (2023/12/01) ♡
- Patient-Reported Impact of Symptoms in Spinal and Bulbar Muscular Atrophy. (2023/12/01) ♡
- Pain in Children and Adolescents with Spinal Muscular Atrophy: A Longitudinal Study from a Patient Registry. (2023/11/30) ♡
- Unilateral interlaminar fenestration on the convex side provides a reliable access for intrathecal administration of nusinersen in spinal muscular atrophy: a retrospective study. (2023/11/29) ♡
- Real-Time PCR-Based Screening for Homozygous SMN2 Deletion Using Residual Dried Blood Spots. (2023/11/29) ♡
- Safety and efficacy of growth-friendly instrumentation for early-onset scoliosis in patients with spinal muscular atrophy type 1 in the disease-modifying treatment era. (2023/11/27) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Educational needs of patients, families, and healthcare professionals to support the patient journey in haemophilia gene therapy in the UK. (2023/11/25) ♡
- 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. Plastic Spinal Motor Circuits in Health and Disease. (2023/11/23) ♡
- Mitigating aberrant Cdk5 activation alleviates mitochondrial defects and motor neuron disease symptoms in spinal muscular atrophy. (2023/11/21) ♡
- The role of leisure-time physical activity in maintaining cervical lordosis after anterior cervical fusion and its impact on the motor function in patients with Hirayama disease: a retrospective cohort analysis. (2023/11/21) ♡
- Systematic reviewiAll research on one question is searched according to fixed rules and compared side by side, so that no studies with poor outcomes are missed. Exploring the relationship between IGHMBP2 gene mutations and spinal muscular atrophy with respiratory distress type 1 and Charcot-Marie-Tooth disease type 2S: a systematic review. (2023/11/17) ♡
- Development of 2'-O-Methyl and LNA Antisense Oligonucleotides for SMN2 Splicing Correction in SMA Cells. (2023/11/16) ♡
- High-sensitive cardiac troponin I (hs-cTnI) concentrations in newborns diagnosed with spinal muscular atrophy. (2023/11/16) ♡
- 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 therapy-based strategies for spinal muscular atrophy—an Asia-Pacific perspective. (2023/11/15) ♡
- Nucleolar reorganization after cellular stress is orchestrated by SMN shuttling between nuclear compartments. (2023/11/15) ♡
- 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) ♡
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