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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)

• The GENDULF algorithm: mining transcriptomics to uncover modifier genes for monogenic diseases. (2020/12/01) ♡
• 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. 25 years of the SMN genes: the Copernican revolution of spinal muscular atrophy. (2020/12/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Transient hyperreflexia: An early diagnostic clue in later-onset spinal muscular atrophy. (2020/12/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Clinical Outcome of Adult Spinal Muscular Atrophy Patients Treated with Nusinersen: A Case Series Review. (2020/12/01) ♡
• Age-related degeneration of lumbar muscle morphology in healthy younger versus older men. (2020/12/01) ♡
• SQSTM1(L341V) variant that is linked to sporadic ALS exhibits impaired association with MAP1LC3 in cultured cells. (2020/11/30) ♡
• 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. Of rAAV and Men: From Genetic Neuromuscular Disorder Efficacy and Toxicity Preclinical Studies to Clinical Trials and Back. (2020/11/28) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Short-duration splice promoting compound enables a tunable mouse model of spinal muscular atrophy. (2020/11/24) ♡
• 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 First Orally Deliverable Small Molecule for the Treatment of Spinal Muscular Atrophy. (2020/11/23) ♡
• 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. New Therapeutics Options for Pediatric Neuromuscular Disorders. (2020/11/23) ♡
• Practical guidelines to manage discordant situations of SMN2 copy number in patients with spinal muscular atrophy. (2020/11/18) ♡
• Increased C-X-C Motif Chemokine Ligand 12 Levels in Cerebrospinal Fluid as a Candidate Biomarker in Sporadic Amyotrophic Lateral Sclerosis. (2020/11/17) ♡
• Development and validation of a 4-color multiplexing spinal muscular atrophy (SMA) genotyping assay on a novel integrated digital PCR instrument. (2020/11/16) ♡
• 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. Drug Screening and Drug Repositioning as Promising Therapeutic Approaches for Spinal Muscular Atrophy Treatment. (2020/11/12) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Generalized Hypotonia Revealing Spinal Muscular Atrophy Type 2: The First Case Reported From the Dominican Republic and a Review of the Literature. (2020/11/12) ♡
• 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 and Communicating Hydrocephalus: A Novel or a Well-Established Rare Association? (2020/11/11) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Exercise Intervention Leads to Functional Improvement in a Patient with Spinal and Bulbar Muscular Atrophy. (2020/11/11) ♡
• Economic burden of spinal muscular atrophy: an analysis of claims data. (2020/11/08) ♡
• 3D Facial morphology in children affected by spinal muscular atrophy type 2 (SMAII). (2020/11/03) ♡
• Peri-operative management of children with spinal muscular atrophy. (2020/11/01) ♡
• Clinical Experience of Nusinersen in a Broad Spectrum of Spinal Muscular Atrophy: A Retrospective Study. (2020/11/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Clinical Course in a Patient With Spinal Muscular Atrophy Type 0 Treated With Nusinersen and Onasemnogene Abeparvovec. (2020/10/01) ♡
• Erratum: A consensus statement on spinal muscular atrophy management in Saudi Arabia in the context of COVID-19. (2020/10/01) ♡
• Regulating patient access to therapeutics in Denmark: a rhetorical analysis of welfare imaginaries in public controversy. (2020/09/21) ♡
• 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. Gene specific therapies - the next therapeutic milestone in neurology. (2020/09/08) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. ASAH1 pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy. (2020/09/01) ♡
• Widespread tissue hypoxia dysregulates cell and metabolic pathways in SMA. (2020/09/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Accessory spinal nerve damage during a cervical lymph node biopsy: case report. (2020/08/31) ♡
• Posterior Spinal Correction and Fusion Surgery in Patients with Spinal Muscular Atrophy-Associated Scoliosis for Whom Treatment with Nusinersen Was Planned. (2020/08/31) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Renal pathology in a mouse model of severe Spinal Muscular Atrophy is associated with downregulation of Glial Cell-Line Derived Neurotrophic Factor (GDNF). (2020/08/11) ♡
• [Analysis of genetic variant in a child with concomitant spinal muscular atrophy and Citrin protein deficiency]. (2020/08/10) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Quality of life in children and adolescents with Spinal Muscular Atrophy. (2020/08/01) ♡
• The Effect of Lumbosacral Transitional Vertebrae (LSTV) on Paraspinal Muscle Volume in Patients with Low Back Pain. (2020/07/01) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Hypoglycaemia in patients with type 1 SMA: an underdiagnosed problem? (2020/07/01) ♡
• 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. [Fatherhood achieved in a case of nonobstructive azoospermia with Kennedy's disease via microdissection testicular sperm extraction and ICSI: A case report and literature review]. (2020/07/01) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Effects of nusinersen after one year of treatment in 123 children with SMA type 1 or 2: a French real-life observational study. (2020/06/12) ♡
• Drugs, genes and screens: The ethics of preventing and treating spinal muscular atrophy. (2020/06/01) ♡
• The value of preoperative labs in identifying "at-risk" patients for developing surgical site infections after pediatric neuromuscular spine deformity surgery. (2020/06/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. [Stress induced ketoacidosis in spinal muscular atrophy. Report of one case]. (2020/06/01) ♡
• Assessment of Spinal Muscular Atrophy Carrier Status by Determining SMN1 Copy Number Using Dried Blood Spots. (2020/05/29) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Hirayama disease causing hand tremor on neck flexion. (2020/05/01) ♡
• Intravenous bisphosphonate therapy in children with spinal muscular atrophy. (2020/05/01) ♡
• 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 effects of statins on microglial cells to protect against neurodegenerative disorders: A mechanistic review. (2020/05/01) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Predictive energy equations for spinal muscular atrophy type I children. (2020/05/01) ♡
• 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 ketoacidosis induced by short-term starvation in a patient with spinal muscular atrophy]. (2020/04/24) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Autopsy of a child with Spinal muscular atrophy Type I (Werdnig-Hoffmann disease). (2020/04/23) ♡
• The French national protocol for Kennedy's disease (SBMA): consensus diagnostic and management recommendations. (2020/04/10) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Pontocerebellar hypoplasia with rhombencephalosynapsis and microlissencephaly expands the spectrum of PCH type 1B. (2020/04/01) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. MRI patterns of muscle involvement in type 2 and 3 spinal muscular atrophy patients. (2020/04/01) ♡
• Polysomnography findings in pediatric spinal muscular atrophy types 1-3. (2020/04/01) ♡

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