Comprehensive analysis across SMN2 excludes DNA methylation as an epigenetic biomarker for spinal muscular atrophy

Comprehensive analysis across SMN2 excludes DNA methylation as an epigenetic biomarker for spinal muscular atrophy

Summary: Spinal muscular atrophy (SMA) is a severe neurodegenerative disease caused by defects in the survival motor neuron 1 (SMN1) gene. Although disease severity partially correlates with SMN2 copy number, significant variability in disease severity and treatment response remains unexplained, pro...

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Main Authors: Maria M. Zwartkruis, Joris V. Kortooms, Demi Gommers, Martin G. Elferink, Ilaria Signoria, Joyce van der Sel, Paul J. Hop, Ramona A.J. Zwamborn, Robin Geene, Jared W. Green, Hanneke W.M. van Deutekom, Wouter van Rheenen, Jan H. Veldink, Fay-Lynn Asselman, Renske I. Wadman, W. Ludo van der Pol, Gijs W. van Haaften, Ewout J.N. Groen
Format: Article
Language:English
Published: Elsevier 2025-05-01
Series:iScience
Subjects:
Health sciences
Internal medicine
Medical specialty
Medicine
Neurology
Online Access:http://www.sciencedirect.com/science/article/pii/S2589004225007229
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http://www.sciencedirect.com/science/article/pii/S2589004225007229

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