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Spinal muscular atrophy (SMA)
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Publications (1202)
- 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) ♡
- Heterozygous DHTKD1 Variants in Two European Cohorts of Amyotrophic Lateral Sclerosis Patients. (2021/12/29) ♡
- The Birth Prevalence of Spinal Muscular Atrophy: A Population Specific Approach in Estonia. (2021/12/22) ♡
- 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. Potential Applications for Targeted Gene Therapy to Protect Against Anthracycline Cardiotoxicity: JACC: CardioOncology Primer. (2021/12/21) ♡
- Application Value of the Motor Unit Number Index in Patients With Kennedy Disease. (2021/12/21) ♡
- Spinal Cord Involvement in Adult Mitochondrial Diseases: A Cohort Study. (2021/12/21) ♡
- 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. [Early diagnosis of spinal muscular atrophy]. (2021/12/20) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Case report of pregnancy management and genetic evaluation after negative carrier screening for spinal muscular atrophy in an affected family. (2021/12/17) ♡
- Spinal Muscular Atrophy Patient iPSC-Derived Motor Neurons Display Altered Proteomes at Early Stages of Differentiation. (2021/12/15) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Characterization of Neuromuscular Junctions in Mice by Combined Confocal and Super-Resolution Microscopy. (2021/12/08) ♡
- 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. Lessons Learned From Translational Research in Neuromuscular Diseases: Impact on Study Design, Outcome Measures and Managing Expectation. (2021/12/07) ♡
- Protein network analysis to prioritize key genes in amyotrophic lateral sclerosis. (2021/12/07) ♡
- The economic impact of compassionate use of medicines. (2021/12/04) ♡
- 7',5'-alpha-bicyclo-DNA: new chemistry for oligonucleotide exon splicing modulation therapy. (2021/12/02) ♡
- Prolonged fasting-induced hyperketosis, hypoglycaemia and impaired fat oxidation in child and adult patients with spinal muscular atrophy type II. (2021/12/01) ♡
- Nusinersen for Spinal Muscular Atrophy in the United States: Findings From a Retrospective Claims Database Analysis. (2021/12/01) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Selective Myostatin Inhibition Spares Sublesional Muscle Mass and Myopenia-Related Dysfunction after Severe Spinal Cord Contusion in Mice. (2021/12/01) ♡
- 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. Models for IGHMBP2-associated diseases: an overview and a roadmap for the future. (2021/12/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Spinal Muscular Atrophy with Respiratory Distress<br /> Type 1: A Novel Variant of IGHMBP2 Gene. (2021/12/01) ♡
- Use of prescriber requirements among US commercial health plans. (2021/12/01) ♡
- Nusinersen: A Review in 5q Spinal Muscular Atrophy. (2021/12/01) ♡
- Combination Therapy with Nusinersen and Onasemnogene Abeparvovec-xioi in Spinal Muscular Atrophy Type I. (2021/11/26) ♡
- 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. Exploring the Diverse Functional and Regulatory Consequences of Alternative Splicing in Development and Disease. (2021/11/24) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. A case series of paediatric patients with spinal muscular atrophy type I undergoing scoliosis correction surgery. (2021/11/17) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Improvement in Fine Manual Dexterity in Children with Spinal Muscular Atrophy Type 2 after Nusinersen Injection: A Case Series. (2021/11/11) ♡
- Multispectral optoacoustic tomography for non-invasive disease phenotyping in pediatric spinal muscular atrophy patients. (2021/11/10) ♡
- Bioinformatic analysis of the gene expression profile in muscle atrophy after spinal cord injury. (2021/11/09) ♡
- De Novo Variants in the DYNC1H1 Gene Associated With Infantile Spasms. (2021/11/05) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Organotypic spinal cord cultures: An <em>in vitro</em> 3D model to preliminary screen treatments for spinal muscular atrophy. (2021/11/04) ♡
- Randomized researchiParticipants were divided into groups by lottery and compared with each other. This reduces the chance that a difference is due to something other than the treatment. Treatment with L-Citrulline in patients with post-polio syndrome: A single center, randomized, double blind, placebo-controlled trial. (2021/11/01) ♡
- 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. Are we creating a new phenotype? Physiological barriers and ethical considerations in the treatment of hereditary transthyretin-amyloidosis. (2021/11/01) ♡
- [The SMA France national registry: already encouraging results]. (2021/11/01) ♡
- [Fusionless spine instrumentations in neuromuscular scoliosis]. (2021/11/01) ♡
- [Intellectual skills and speech abilities in children with SMA type 1]. (2021/11/01) ♡
- Epidemiology, healthcare resource utilization and healthcare costs for spinal muscular atrophy in Alberta, Canada. (2021/11/01) ♡
- Central synaptopathy is the most conserved feature of motor circuit pathology across spinal muscular atrophy mouse models. (2021/10/30) ♡
- Implications of circulating neurofilaments for spinal muscular atrophy treatment early in life: A case series. (2021/10/30) ♡
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