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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)

• Commentary or editorialiAn expert's opinion or commentary, not new research. IGF-1 for spinal and bulbar muscular atrophy: hope and challenges. (2018/12/01) ♡
• Multiplex Droplet Digital PCR Method Applicable to Newborn Screening, Carrier Status, and Assessment of Spinal Muscular Atrophy. (2018/12/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. IGHMBP2 mutation associated with organ-specific autonomic dysfunction. (2018/12/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Charcot Marie Tooth disease type 2S with late onset diaphragmatic weakness: An atypical case. (2018/12/01) ♡
• Global, regional, and national burden of motor neuron diseases 1990-2016: a systematic analysis for the Global Burden of Disease Study 2016. (2018/12/01) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Onabotulinum Toxin A Injections Into the Salivary Glands for Spinal Muscle Atrophy Type I: A Prospective Case Series of 4 Patients. (2018/12/01) ♡
• 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. Gene Therapy for Spinal Muscular Atrophy: An Emerging Treatment Option for a Devastating Disease. (2018/12/01) ♡
• 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. Respiratory care in spinal muscular atrophy in the new therapeutic era. (2018/12/01) ♡
• Stasimon/Tmem41b localizes to mitochondria-associated ER membranes and is essential for mouse embryonic development. (2018/11/30) ♡
• Measurement of spinal cord atrophy using phase sensitive inversion recovery (PSIR) imaging in motor neuron disease. (2018/11/29) ♡
• Risdiplam distributes and increases SMN protein in both the central nervous system and peripheral organs. (2018/11/29) ♡
• 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. Evidence in focus: Nusinersen use in spinal muscular atrophy [RETIRED]: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology. (2018/11/13) ♡
• 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. Novel challenges in spinal muscular atrophy - How to screen and whom to treat? (2018/11/13) ♡
• 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. Pathogenic commonalities between spinal muscular atrophy and amyotrophic lateral sclerosis: Converging roads to therapeutic development. (2018/11/01) ♡
• Disease progression and outcome measures in spinobulbar muscular atrophy. (2018/11/01) ♡
• Identifying Opportunities to Provide Family-centered Care for Families With Children With Type 1 Spinal Muscular Atrophy. (2018/11/01) ♡
• 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. Precision Medicine through Antisense Oligonucleotide-Mediated Exon Skipping. (2018/11/01) ♡
• The Swedish motor neuron disease quality registry. (2018/11/01) ♡
• 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. Prospective Study of Long-term Effect between Multifidus Muscle Bundle and Conventional Open Approach in One-level Posterior Lumbar Interbody Fusion. (2018/11/01) ♡
• SMA in France, how many patients? (2018/11/01) ♡
• 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. Neuromuscular Ultrasound: Clinical Applications and Diagnostic Values. (2018/11/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. The black pearl of the ocean: Kennedy disease. (2018/11/01) ♡
• Cell cycle inhibitors protect motor neurons in an organoid model of Spinal Muscular Atrophy. (2018/10/27) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Lifting with straight legs and bent spine is not bad for your back. (2018/10/25) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Staged bilateral pallidotomy for dystonic camptocormia: case report. (2018/10/19) ♡
• Impaired myogenic development, differentiation and function in hESC-derived SMA myoblasts and myotubes. (2018/10/10) ♡
• 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. Biomarkers of Spinal and Bulbar Muscle Atrophy (SBMA): A Comprehensive Review. (2018/10/10) ♡
• Feasibility and safety of intrathecal treatment with nusinersen in adult patients with spinal muscular atrophy. (2018/10/05) ♡
• The Italian neuromuscular registry: a coordinated platform where patient organizations and clinicians collaborate for data collection and multiple usage. (2018/10/04) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Nusinersen in patients older than 7 months with spinal muscular atrophy type 1: A cohort study. (2018/10/02) ♡
• Patient-Derived Induced Pluripotent Stem Cells for Alpha-1 Antitrypsin Deficiency Disease Modeling and Therapeutic Discovery. (2018/09/15) ♡
• A New Method for Measuring Bell-Shaped Chest Induced by Impaired Ribcage Muscles in Spinal Muscular Atrophy Children. (2018/09/13) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Nusinersen for SMA: expanded access programme. (2018/09/01) ♡
• 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. Spinal muscular atrophy - clinical spectrum and therapy. (2018/09/01) ♡
• 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. Motor neurone disease-associated neck pain misdiagnosed as cervical spondylosis: A case report and literature review. (2018/09/01) ♡
• 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. The role of sleep diagnostics and non-invasive ventilation in children with spinal muscular atrophy. (2018/09/01) ♡
• 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. Changing respiratory expectations with the new disease trajectory of nusinersen treated spinal muscular atrophy [SMA] type 1. (2018/09/01) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Spinal muscular atrophy: A modifiable disease emerges. (2018/09/01) ♡
• Prevalence of metabolic syndrome and non-alcoholic fatty liver disease in a cohort of italian patients with spinal-bulbar muscular atrophy. (2018/09/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Distal Spinal Muscular Atrophy: An Overlooked Etiology of Weaning Failure in Children with Respiratory Insufficiency. (2018/09/01) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. An observational study of functional abilities in infants, children, and adults with type 1 SMA. (2018/08/21) ♡
• 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. Human Cardiac Gene Therapy. (2018/08/17) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Spinal Muscular Atrophy with Preserved Deep Tendon Reflexes. (2018/08/01) ♡
• Detecting spinal pyramidal tract of amyotrophic lateral sclerosis patients with diffusion tensor tractography. (2018/08/01) ♡
• Motor neuron biology and disease: A current perspective on infantile-onset spinal muscular atrophy. (2018/08/01) ♡
• Protein translation, proteolysis and autophagy in human skeletal muscle atrophy after spinal cord injury. (2018/07/01) ♡
• Functional Tasks Performed by People with Severe Muscular Atrophy Using an sEMG Controlled Robotic Manipulator. (2018/07/01) ♡
• An sEMG-based Interface to give People with Severe Muscular Atrophy control over Assistive Devices. (2018/07/01) ♡
• Pilot study of population-based newborn screening for spinal muscular atrophy in New York state. (2018/06/01) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Relationships between vitamin D and paraspinal muscle: human data and experimental rat model analysis. (2018/06/01) ♡

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