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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 (1200)

• More Clinical Mimics of Infant Botulism. (2018/02/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Pre-emptive awake airway management under dexmedetomidine sedation in a parturient with spinal muscular atrophy type-2. (2018/02/01) ♡
• 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 myopathy due to BICD2 mutations. (2018/02/01) ♡
• The Canadian Neuromuscular Disease Registry: Connecting patients to national and international research opportunities. (2018/02/01) ♡
• 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: Diagnosis and management. (2018/02/01) ♡
• Treatment guidelineiAn official agreement between doctors about how this disease should be treated. This is not a single study but the conclusion of an entire medical field. Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care. (2018/02/01) ♡
• Self-oligomerization regulates stability of survival motor neuron protein isoforms by sequestering an SCF(Slmb) degron. (2018/01/15) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Endocrinal description of two Chinese Kennedy's disease pedigrees. (2018/01/01) ♡
• Parents' advice to healthcare professionals working with children who have spinal muscular atrophy. (2018/01/01) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Motor neuron disease: Positive trial results published for ground-breaking SMA therapies. (2018/01/01) ♡
• 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. Camptocormia: New Signs in an Old Syndrome. (2018/01/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Spinal muscular atrophy with progressive myoclonic epilepsy linked to mutations in ASAH1. (2018/01/01) ♡
• Newborn genetic screening for spinal muscular atrophy in the UK: The views of the general population. (2018/01/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Severe camptocormia due to myositis of paraspinal muscles as an early manifestation of Parkinson's disease. (2018/01/01) ♡
• 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. Antisense oligonucleotides: the next frontier for treatment of neurological disorders. (2018/01/01) ♡
• Single-center experience with intrathecal administration of Nusinersen in children with spinal muscular atrophy type 1. (2018/01/01) ♡
• Clinical phenotypes and trajectories of disease progression in type 1 spinal muscular atrophy. (2018/01/01) ♡
• [S2 Alar-Iliac Screws in Fixation and Correction of Combined Neuromuscular Spinal and Pelvic Deformities]. (2018/01/01) ♡
• 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. Using Systems Biology and Mathematical Modeling Approaches in the Discovery of Therapeutic Targets for Spinal Muscular Atrophy. (2018/01/01) ♡
• Possible Role of the Polyglutamine Elongation in Evolution of Amyloid-Related Evolvability. (2018/01/01) ♡
• 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. Overview of FES-Assisted Cycling Approaches and Their Benefits on Functional Rehabilitation and Muscle Atrophy. (2018/01/01) ♡
• To Reverse Atrophy of Human Muscles in Complete SCI Lower Motor Neuron Denervation by Home-Based Functional Electrical Stimulation. (2018/01/01) ♡
• [Minimally invasive dorsal decompression-stabilization surgery in patients with overweight and obesity]. (2018/01/01) ♡
• The expression of SMN1, MART3, GLE1 and FUS genes in spinal muscular atrophy. (2018/01/01) ♡
• BRCA2-Associated Prostate Cancer in a Patient With Spinal and Bulbar Muscular Atrophy. (2018/01/01) ♡
• Converging Mechanisms of p53 Activation Drive Motor Neuron Degeneration in Spinal Muscular Atrophy. (2017/12/26) ♡
• Only some patients with bulbar and spinal muscular atrophy may develop cardiac disease. (2017/12/21) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Inhibition of autophagy delays motoneuron degeneration and extends lifespan in a mouse model of spinal muscular atrophy. (2017/12/20) ♡
• [Midterm clinical outcomes and radiological results of surgical treatment for Hirayama disease]. (2017/12/18) ♡
• SMA Diagnosis: Detection of SMN1 Deletion with Real-Time mCOP-PCR System Using Fresh Blood DNA. (2017/12/18) ♡
• Nonalcoholic fatty liver disease in spinal and bulbar muscular atrophy. (2017/12/12) ♡
• Lysine-Less Variants of Spinal Muscular Atrophy SMN and SMNΔ7 Proteins Are Degraded by the Proteasome Pathway. (2017/12/08) ♡
• 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 Neuron Gene Therapy: Lessons from Spinal Muscular Atrophy for Amyotrophic Lateral Sclerosis. (2017/12/07) ♡
• Spinal Muscular Atrophy, types I and II: What are the differences in body composition and resting energy expenditure? (2017/12/01) ♡
• 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 Historical and Current Review of Newborn Screening for Neuromuscular Disorders From Around the World: Lessons for the United States. (2017/12/01) ♡
• Changes in the soleus H-reflex test and correlations between its results and dynamic magnetic resonance imaging abnormalities in patients with Hirayama disease. (2017/12/01) ♡
• Expanded carrier screening in gamete donors of Venezuela. (2017/12/01) ♡
• 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: Time for newborn screening?]. (2017/12/01) ♡
• Optimization of a series of heterocycles as survival motor neuron gene transcription enhancers. (2017/12/01) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Expanded access program with Nusinersen in SMA type I in Italy: Strengths and pitfalls of a successful experience. (2017/12/01) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. NeuroNEXT is at your service. (2017/12/01) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Natural history of infantile-onset spinal muscular atrophy. (2017/12/01) ♡
• What is in the Literature? (2017/12/01) ♡
• Gene Therapy Briefs. (2017/12/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Degeneration of the corticofugal tract from the secondary motor area in a Parkinson's disease patient with limb-kinetic apraxia: A case report. (2017/12/01) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Protective effects of long-term lithium administration in a slowly progressive SMA mouse model. (2017/12/01) ♡
• HuD and the Survival Motor Neuron Protein Interact in Motoneurons and Are Essential for Motoneuron Development, Function, and mRNA Regulation. (2017/11/29) ♡
• Indirect estimation of the prevalence of spinal muscular atrophy Type I, II, and III in the United States. (2017/11/28) ♡
• Magnetically Controlled Devices Parallel to the Spine in Children with Spinal Muscular Atrophy. (2017/11/28) ♡
• 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 Atypical Clinical Presentation of Post-traumatic Syringomyelia: A Case Report and Brief Review of the Literature. (2017/11/16) ♡

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