Personal take on this article: This study explores the potential of Thrombospondin-4 (TSP4) as a cerebrospinal fluid (CSF) biomarker for monitoring therapy response in pediatric patients with Spinal Muscular Atrophy (SMA). SMA is a severe childhood neurodegenerative disease characterized by the loss of motor neurons, leading to muscle weakness and atrophy. Currently, there is a lack of reliable biomarkers that can indicate treatment response in SMA. Researchers conducted proteomic analyses …

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    Personal take on this article: The research article estimates the prevalence of GNE myopathy (GNEM), a rare neuromuscular disorder, using data from population genetic databases. GNEM is caused by mutations in the GNE gene and is characterized by progressive muscle atrophy. Due to underdiagnosis, current prevalence estimates range between 1 to 9 cases per million, but these are likely underestimations. This study uses allele frequencies from large genetic …

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