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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 and studies (1659)

• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Study of Safety and Dosing Effect on SMN Levels of Valproic Acid (VPA) in Patients With Spinal Muscular Atrophy (2023-05-10) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. [BrainConnexion] - Neurodevice Phase I Trial (2023-05-06) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Metabolic Health in Individuals With Spinal Cord Injury (SCI) (2023-03-27) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Personalized Medicine for SMA: a Translational Project (2023-03-22) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Clinical Study of Spinal Muscular Atrophy (2023-03-21) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. SWITCH II Early Feasibility Study: Implantable BCI to Control a Digital Device for People With Paralysis (2023-03-21) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Effect of Nusinersen on Adults With Spinal Muscular Atrophy (2023-03-20) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Long Term Trajectories of SMA Patients Receiving or Not Disease-modifying Treatments (2023-03-14) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. SMN Circular RNAs as Potential Biomarkers for the Therapeutic Response to Nusinersen in Spinal Muscular Atrophy Patients (2023-03-14) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Bioavailability and Bioequivalence of Two Risdiplam Tablets in Healthy Participants (2023-03-13) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Ultrasound-assisted or Landmark-based Intrathecal Administration of Nusinersen in Adult Patients With Spinal Muscular Atrophy (The EchoSpin Study) (2023-03-09) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. SMN Circular RNAs as Potential New Targets and Biomarkers for SMA (2023-03-08) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Natural History of SMA (2023-03-06) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Chinese Regional Spinal Muscular Atrophy Patient Registration Study (2023-02-23) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Sarcopenic Obesity in Neurodisabilities (2023-01-27) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Study of ALS Reversals 4: LifeTime Exposures (2023-01-20) ♡
• The length of uninterrupted CAG repeats in stem regions of repeat disease associated hairpins determines the amount of short CAG oligonucleotides that are toxic to cells through RNA interference. (2022/12/30) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. DYNC1H1 variant associated with epilepsy: Expanding the phenotypic spectrum. (2022/12/28) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Genetics and "democracy". (2022/12/26) ♡
• Antibody-oligonucleotide conjugate achieves CNS delivery in animal models for spinal muscular atrophy. (2022/12/22) ♡
• Survival motor neuron protein and neurite degeneration are regulated by Gemin3 in spinal muscular atrophy motoneurons. (2022/12/22) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Adeno-associated virus vector intraperitoneal injection induces colonic mucosa and submucosa transduction and alters the diversity and composition of the faecal microbiota in rats. (2022/12/22) ♡
• Revised Hammersmith Scale for spinal muscular atrophy: Inter and intra-rater reliability and agreement. (2022/12/21) ♡
• Parents' dilemma: A therapeutic decision for children with spinal muscular atrophy (SMA) type 1. (2022/12/21) ♡
• Utility estimations of different health states of patients with type I, II, and III spinal muscular atrophy in China: A mixed approach study with patient and proxy-reported data. (2022/12/20) ♡
• Comprehensive profile and natural history of pediatric patients with spinal muscular atrophy: A large retrospective study from China. (2022/12/20) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. An Integrated Physiotherapeutic Approach With Virtual Reality in Schizophrenic Patients With Ipsilateral Femoral Shaft and Intertrochanteric Fractures: A Case report. (2022/12/19) ♡
• Communication of the Diagnosis of Spinal Muscular Atrophy in the Views of Patients and Family Members, a Qualitative Analysis. (2022/12/16) ♡
• The Japan Registry for Adult Subjects of Spinal Muscular Atrophy (jREACT-SMA): Protocol for a Longitudinal Observational Study. (2022/12/15) ♡
• Spinal Cord Injury Causes Marked Tissue Rearrangement in the Urethra-Experimental Study in the Rat. (2022/12/15) ♡
• Spinal Muscular Atrophy: A New Frontier but the Same Old Boundaries. (2022/12/15) ♡
• 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) ♡

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