Multimodal Non-Invasive Biomarker Characterization of Structural and Functional Alterations in ADSS1 Myopathy
Merve Koç Yekedüz, Raquel van Gool, Hanne C. van der Heijden, Buket Sonbas Cobb, Nehal Shah, Georgina Johnson, Cara A. Timpani, Julie Shulman, Vanessa Rameh, Evan E. Hsu, Courney LeSon, Pui Y. Lee, Adam P. Vogel, Walla Al‐Hertani, Hyung Jun Park, , Jaymin Upadhyay
This study uses multimodal non-invasive assessments to characterize structural and functional alterations in ADSS1 myopathy, identifying biomarkers for disease monitoring.
medRxiv · Jan 30, 2026 · PreprintGenetic & Genomic Medicine