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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)

• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Whole Body Vibration on Muscle Strength in Patients With Postpolio Syndrome (2020-05-15) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. The Burden of Primary Caregivers of Spinal Muscular Atrophy Patients and Their Needs (2020-05-14) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A Safety Study of JNJ-56021927 in Participants With Metastatic Castration-Resistant Prostate Cancer (2020-04-27) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. European Home Mechanical Ventilation Registry (2020-04-09) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Treatment of Post-poliomyelitis Syndrome by Intravenous Immunoglobulin (2020-03-10) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Evaluation of Therapeutic Response in Spinal Muscular Atrophy Using Multispectral Optoacoustic Tomography (MSOT) and Magnetic Resonance Imaging (MRI) (2020-02-28) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Mechanisms of Cell Death in Spinal Muscular Atrophy (2020-02-21) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Acoustic and Perceptual Markers of Dysarthria in Amyotrophic Lateral Sclerosis (ALS) (2020-01-29) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Answer ALS: Individualized Initiative for ALS Discovery (2020-01-13) ♡
• The prevalence of muscular dystrophy and spinal muscular atrophy in Croatia: data from national and non-governmental organization registries. (2019/12/31) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Spinal Muscular Atrophy Diagnosed by Newborn Screening. (2019/12/31) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Genomic analysis of a spinal muscular atrophy (SMA) discordant family identifies a novel mutation in TLL2, an activator of growth differentiation factor 8 (myostatin): a case report. (2019/12/30) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Stasimon Contributes to the Loss of Sensory Synapses and Motor Neuron Death in a Mouse Model of Spinal Muscular Atrophy. (2019/12/17) ♡
• Newborn Screening for Spinal Muscular Atrophy in China Using DNA Mass Spectrometry. (2019/12/17) ♡
• Meta-analysisiAll studies on one question combined and calculated together. This is the strongest form of research that exists: a single loose study can be coincidence, dozens together much less so. The label says something about the design, not about the outcome — which can also be that something does NOT work. Drug treatment for spinal muscular atrophy type I. (2019/12/11) ♡
• [Supplementary value of denaturing high performance liquid chromatography for routine prenatal diagnosis of spinal muscular atrophy by multiple ligation-dependent probe amplification]. (2019/12/10) ♡
• SMN complex member Gemin3 self-interacts and has a functional relationship with ALS-linked proteins TDP-43, FUS and Sod1. (2019/12/10) ♡
• 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. JNK Signaling Pathway Involvement in Spinal Cord Neuron Development and Death. (2019/12/05) ♡
• Healthcare utilisation in children with SMA type 1 treated with nusinersen: a single centre retrospective review. (2019/12/05) ♡
• The Classical Complement Pathway Mediates Microglia-Dependent Remodeling of Spinal Motor Circuits during Development and in SMA. (2019/12/03) ♡
• Healthcare Utilization, Costs of Care, and Mortality Among Patients With Spinal Muscular Atrophy. (2019/12/02) ♡
• Anthropometric measurement standardization for a multicenter nutrition survey in children with spinal muscular atrophy. (2019/12/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Distal Cervical Spondylotic Amyotrophy: Case Reports Demonstrating Clinical/Imaging Segmental Discrepancy. (2019/12/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Monozygotic Twins Discordant for Kennedy Disease: A Case Report. (2019/12/01) ♡
• Spinal Muscular Atrophy Therapies: ICER Grounds the Price to Value Conversation in Facts. (2019/12/01) ♡
• 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. The Effectiveness and Value of Treatments for Spinal Muscular Atrophy. (2019/12/01) ♡
• Arthrogryposis. (2019/12/01) ♡
• 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. A critical review of patient and parent caregiver oriented tools to assess health-related quality of life, activity of daily living and caregiver burden in spinal muscular atrophy. (2019/12/01) ♡
• 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. Neuromuscular Diseases of the Newborn. (2019/12/01) ♡
• [Spinal Muscular Atrophy - expert recommendations for the use of nusinersen in adult patients]. (2019/12/01) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Gene Therapy Briefs. (2019/12/01) ♡
• 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. Spinal Muscular Atrophy Modeling and Treatment Advances by Induced Pluripotent Stem Cells Studies. (2019/12/01) ♡
• Physiological aspects of muscular adaptations to training translated to neuromuscular diseases. (2019/12/01) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. News Feature: Gene therapy successes point to better therapies. (2019/11/26) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Tamoxifen in Duchenne muscular dystrophy (TAMDMD): study protocol for a multicenter, randomized, placebo-controlled, double-blind phase 3 trial. (2019/11/21) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Patient characteristics and hospitalisation costs of spinal muscular atrophy in Spain: a retrospective multicentre database analysis. (2019/11/21) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Camptocormia as the presenting symptom in sporadic late onset nemaline myopathy: a case report. (2019/11/20) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Lowering EphA4 Does Not Ameliorate Disease in a Mouse Model for Severe Spinal Muscular Atrophy. (2019/11/19) ♡
• 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. Multifaceted roles of microRNAs: From motor neuron generation in embryos to degeneration in spinal muscular atrophy. (2019/11/18) ♡
• Next generation sequencing and RNA-seq characterization of adipose tissue in the Nile crocodile (Crocodylus niloticus) in South Africa: Possible mechanism(s) of pathogenesis and pathophysiology of pansteatitis. (2019/11/18) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Limb girdle muscular dystrophy: a case report initially presenting to an outpatient musculoskeletal physiotherapy clinic with spinal pain and functional weakness. (2019/11/14) ♡
• Newborn Screening for Spinal Muscular Atrophy: DNA Preparation from Dried Blood Spot and DNA Polymerase Selection in PCR. (2019/11/14) ♡
• 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. A role for spinal cord hypoxia in neurodegeneration. (2019/11/13) ♡
• A Novel System for Spinal Muscular Atrophy Screening in Newborns: Japanese Pilot Study. (2019/11/12) ♡
• Routine Cerebrospinal Fluid (CSF) Parameters in Patients With Spinal Muscular Atrophy (SMA) Treated With Nusinersen. (2019/11/07) ♡
• Identification of Novel Microsatellite Markers Flanking the SMN1 and SMN2 Duplicated Region and Inclusion Into a Single-Tube Tridecaplex Panel for Haplotype-Based Preimplantation Genetic Testing of Spinal Muscular Atrophy. (2019/11/06) ♡
• Clinical Implication of Dosimetry of Computed Tomography- and Fluoroscopy-Guided Intrathecal Therapy With Nusinersen in Adult Patients With Spinal Muscular Atrophy. (2019/11/05) ♡
• Development of a Multiplex Real-Time PCR Assay for the Newborn Screening of SCID, SMA, and XLA. (2019/11/02) ♡
• 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 dystrophy - a revisit of the diagnosis and treatment modalities. (2019/11/01) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Lamin A/C dysregulation contributes to cardiac pathology in a mouse model of severe spinal muscular atrophy. (2019/11/01) ♡

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