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Spinal muscular atrophy (SMA)
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Publications and studies (1659)
- 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. Systematic Literature Review to Assess the Cost and Resource Use Associated with Spinal Muscular Atrophy Management. (2022/04/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Late-onset idiopathic focal dystonia of the trunk: A treatable cause of bent spine syndrome. (2022/04/01) ♡
- Patient and Caregiver Treatment Preferences in Type 2 and Non-ambulatory Type 3 Spinal Muscular Atrophy: A Discrete Choice Experiment Survey in Five European Countries. (2022/04/01) ♡
- 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. Systematic Literature Review to Identify Utility Values in Patients with Spinal Muscular Atrophy (SMA) and Their Caregivers. (2022/04/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Dramatic Innovations in the Treatment of Spinal Muscular Atrophy, But Many Unknowns Remain. (2022/04/01) ♡
- 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 predominant lower extremity (SMA-LED) with no signs other than pure motor symptoms at the intersection of multiple overlap syndrome. (2022/04/01) ♡
- 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. Genetic architecture of motor neuron diseases. (2022/03/15) ♡
- Cell-penetrating peptide-conjugated Morpholino rescues SMA in a symptomatic preclinical model. (2022/03/02) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. An infant with congenital respiratory insufficiency and diaphragmatic paralysis: A novel BICD2 phenotype? (2022/03/01) ♡
- Anaesthetic considerations in posterior instrumentation of scoliosis due to spinal muscular atrophy: Case series of 56 operated patients. (2022/03/01) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Splicing efficiency of minor introns in a mouse model of SMA predominantly depends on their branchpoint sequence and can involve the contribution of major spliceosome components. (2022/03/01) ♡
- Comparative All-Cause Mortality Among a Large Population of Patients with Spinal Muscular Atrophy Versus Matched Controls. (2022/03/01) ♡
- Curcumin and neurological diseases. (2022/03/01) ♡
- Ethical Perspectives on Treatment Options with Spinal Muscular Atrophy Patients. (2022/03/01) ♡
- Identification of specific gene methylation patterns during motor neuron differentiation from spinal muscular atrophy patient-derived iPSC. (2022/02/15) ♡
- Structurally Mapping Antigenic Epitopes of Adeno-associated Virus 9: Development of Antibody Escape Variants. (2022/02/09) ♡
- Access to Innovative Neurological Drugs in Europe: Alignment of Health Technology Assessments Among Three European Countries. (2022/02/04) ♡
- Intramuscular tetanus neurotoxin reverses muscle atrophy: a randomized controlled trial in dogs with spinal cord injury. (2022/02/01) ♡
- 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. The predictive value of preoperative paraspinal muscle morphometry on complications after lumbar surgery: a systematic review. (2022/02/01) ♡
- 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. Peripherally delivered Adeno-associated viral vectors for spinal cord injury repair. (2022/02/01) ♡
- Muscle "islands": An MRI signature distinguishing neurogenic from myopathic causes of early onset distal weakness. (2022/02/01) ♡
- Natural history of 10-meter walk/run test performance in spinal muscular atrophy: A longitudinal analysis. (2022/02/01) ♡
- Newborn screening for spinal muscular atrophy: The Wisconsin first year experience. (2022/02/01) ♡
- Assessment of Health-Related Quality of Life in Adult Spinal Muscular Atrophy Under Nusinersen Treatment—A Pilot Study. (2022/01/24) ♡
- 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. Assessing the Value of Nusinersen for Spinal Muscular Atrophy: A Comparative Analysis of Reimbursement Submission and Appraisal in European Countries. (2022/01/21) ♡
- A Compound Heterozygous Mutation in Calpain 1 Identifies a New Genetic Cause for Spinal Muscular Atrophy Type 4 (SMA4). (2022/01/19) ♡
- A Patient-Centered Evaluation of Meaningful Change on the 32-Item Motor Function Measure in Spinal Muscular Atrophy Using Qualitative and Quantitative Data. (2022/01/17) ♡
- Development of the SMA Independence Scale—Upper Limb Module (SMAIS-ULM): A novel scale for individuals with Type 2 and non-ambulant Type 3 SMA. (2022/01/15) ♡
- Parent Perceptions in Choosing Treatment for Infants With Spinal Muscular Atrophy Diagnosed Through Newborn Screening. (2022/01/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Gene replacement therapy with onasemnogene abeparvovec in children with spinal muscular atrophy aged 24 months or younger and bodyweight up to 15 kg: an observational cohort study. (2022/01/01) ♡
- Axonal excitability changes in children with spinal muscular atrophy treated with nusinersen. (2022/01/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Infantile-onset CMT2D/dSMA-V in a Chinese family with parental germline mosaicism for a novel mutation in the GARS1 gene. (2022/01/01) ♡
- KLF15 overexpression in myocytes fails to ameliorate ALS-related pathology or extend the lifespan of SOD1G93A mice. (2022/01/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Kennedy disease in two sisters with biallelic CAG expansions of the androgen receptor gene. (2022/01/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. [Postural effect of vestibular galvanic stimulation in patients with Parkinson's disease and camptocormia: Case series]. (2022/01/01) ♡
- Patient reported quality of life in limb girdle muscular dystrophy. (2022/01/01) ♡
- Revised upper limb module in type II and III spinal muscular atrophy: 24-month changes. (2022/01/01) ♡
- Clinical advances of RNA therapeutics for treatment of neurological and neuromuscular diseases. (2022/01/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. A tale of two diseases: spinal muscular atrophy and Pompe disease. (2022/01/01) ♡
- Sleep breathing disorders in pediatric patients with spinal muscular atrophy 2. (2022/01/01) ♡
- The effects of nusinersen treatment on respiratory status of children with spinal muscular atrophy. (2022/01/01) ♡
- Electromagnetic field stimulation facilitates motor neuron excitability, myogenesis and muscle contractility in spinal cord transected rats. (2022/01/01) ♡
- Cerebral Aβ deposition in an Aβ-precursor protein-transgenic rhesus monkey. (2022/01/01) ♡
- Neuromuscular junction disorders: Experimental models and pathophysiological mechanisms. (2022/01/01) ♡
- Pain in Spinal Muscular Atrophy: A Questionnaire Study. (2022/01/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Sarcopenia and Outcomes of Neuroplasty in Lumbar Spinal Stenosis (2022-12-27) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Impairments of Neuro-muscular Communication in Motor-Neuron Disease: A Bio-Marker for Early and Personalised Diagnosis (2022-12-23) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Breast Cancer BRCA1 Carriers: a Pilot Study (2022-12-15) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. 50% Body Weight Reverses Stature, Lumbar Disc Expansion and Vertebral Compliance by Hyper-Buoyancy Floatation. (2022-12-06) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Schulze Muscular Dystrophy Ability Clinical Study (2022-12-05) ♡
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