BACKGROUND AND OBJECTIVES
Generalized myasthenia gravis (gMG) is a chronic fluctuating neuromuscular disease. Some patients keep experiencing symptoms or adverse events (AEs) despite tailored therapeutic schemes. The aim of this study was to characterize adequately controlled gMG and describe patients' evolution and ou...
D. Reyes-Leiva, Á. Carbayo, A. Vesperinas et al.· Neurology· 0 citations
Spatial transcriptomics indicated that mitochondrial dysfunction, oxidative stress responses, pro-apoptotic stress signalling, and p38-associated stress-response signalling are early features of Pompe muscle, and patient-level PCA further identified a severity-associated transcriptomic continuum.
Alexandra Monceau, E. Gallardo, A. Hernández-Laín et al.· Acta Neuropathologica Commun...· 0 citations
Objectives Immune-mediated necrotizing myopathies (IMNMs) are a group of rare acquired myopathies. We describe two pediatric cases presenting with early-onset proximal and axial muscle weakness, rhabdomyolysis, and progressive evolution mimicking limb-girdle muscular dystrophy. Methods This retrospective case series is...
Gianmarco Severa, María Camila Cortés-Rojas, M. Gómez-García de la Banda et al.· Frontiers in Pediatrics· 0 citations
Findings support the existence of a persistent molecular footprint in skeletal muscle after biochemical remission and suggest a shared epigenetic memory of prior GH or cortisol excess may contribute to long-term muscle dysfunction and represents a potential target for therapeutic intervention.
J. Gil, L. M. Duguech, R. Díaz et al.· European Journal of Endocrin...· 0 citations
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