Results 61 to 70 of about 840,189 (237)
SMA-MAP: A Plasma Protein Panel for Spinal Muscular Atrophy
PLoS ONE, 2013 Spinal Muscular Atrophy (SMA) presents challenges in (i) monitoring disease activity and predicting progression, (ii) designing trials that allow rapid assessment of candidate therapies, and (iii) understanding molecular causes and consequences of the disease.
Dione T Kobayashi +24 more
openaire +5 more sources
British Journal of Clinical Pharmacology, EarlyView.Introduction In recent years, the treatment of spinal muscular atrophy (SMA), a rare disease, has significantly progressed, improving patients' survival and overall quality of life. However, current SMA treatments are expensive, and some (nusinersen) are very inconvenient for patients.
Andrej Belančić +4 more
wiley +1 more source
The Birth Prevalence of Spinal Muscular Atrophy: A Population Specific Approach in Estonia
Frontiers in Genetics, 2021 Background: Rare diseases are an important population health issue and many promising therapies have been developed in recent years. In light of novel genetic treatments expected to significantly improve spinal muscular atrophy (SMA) patients’ quality of
Siiri Sarv +18 more
doaj +1 more source
A functional motor unit in the culture dish : co-culture of spinal cord explants and muscle cells [PDF]
, 2012 Human primary muscle cells cultured aneurally in monolayer rarely contract spontaneously because, in the absence of a nerve component, cell differentiation is limited and motor neuron stimulation is missing(1). These limitations hamper the in vitro study
Handschin, Christoph +2 more
core +1 more source
How the HTAR will contribute to a value‐based decision‐making for medicinal products across the EU
British Journal of Clinical Pharmacology, EarlyView.The European Union Health Technology Regulation 2021/2282 (HTAR) introduces joint assessment of health technologies (including medicinal products and medical devices) across EU Member States. It was signed into law in 2021 and came into full force in January 2025.
Roisin Adams, Michal Stanak
wiley +1 more source
Frontiers in Molecular Neuroscience, 2016 Spinal muscular atrophy (SMA) is a hereditary childhood disease that causes paralysis and progressive degeneration of skeletal muscles and spinal motor neurons.
Sara Olivan Garcia +9 more
doaj +1 more source
Psychological burden in spinal muscular atrophy patients and their families: a systematic review
The Egyptian Journal of Neurology, Psychiatry and Neurosurgery, 2022 Background Spinal muscular atrophy (SMA) is an autosomal-recessive disorder that manifests in paralysis and skeletal muscle weaknesses. This neuromuscular problem is caused by degeneration of the spinal cord anterior horn cells. Main body of the abstract
Dian Marta Sari +3 more
doaj +1 more source
An autopsy study of a familial oculopharyngeal muscular dystrophy (OPMD) with distal spread and neurogenic involvement [PDF]
, 1981 An 81-year-old man from a family with a history of oculopharyngeal muscular dystrophy (OPMD) involving 6 members over 4 generations is described. The patient first noted drooping of his eyelids at the age of 65.
Krause, Klaus-Henning, Schmitt, H.-P.
core +1 more source
Precision medicine in paediatrics: Progress and priorities
British Journal of Clinical Pharmacology, EarlyView.Precision medicine is revolutionizing personalized healthcare, advancing both diagnostics and therapeutics at an unprecedented pace. Reviewing the paediatric applications of pharmacometrics, pharmacogenomics and advanced therapy medicinal products highlights not only the relevance of these exciting innovations to frontline care but also the significant
Nicola Husain +3 more
wiley +1 more source
Pharmacological management of spinal muscular atrophy
, 2023 Spinal muscular atrophy is an autosomal recessive inherited disease, which associate with SMN gene mutation. It presents with a wide range of symptoms from weakness, and fatigue of muscles to non-ambulatory, and death.
Le, Ngo Minh Tran
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