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: Emery-Dreifuss muscular dystrophy (EDMD) is a rare and genetically complex neuromuscular disorder, characterized by progressive muscle wasting, early-onset contractures, and life-threatening cardiac conduction issues. The disorder presents significant clinical variability, even among family members with the same genetic mutations, complicating its diagnosis and treatment. Traditionally, genome-wide association studies have struggled to identify all the causative mutations due to the disorder's genetic heterogeneity, with …

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