DR Emma Rybalka
Honorary (Senior Fellow)
Department of Medicine
60 Scholarly works
0 Projects
HIGHLIGHTS
2026
Journal article
Harmonizing gene nomenclature and disease classification for ADSS1 myopathy
DOI: 10.1186/s13023-026-04535-82026
Journal article
WITHDRAWN: Meeting report on the 2nd Clinical and Scientific Conference on ADSS1 myopathy. 24 October 2025, Boston Children’s Hospital, Brookline, Massachusetts, United States of America
DOI: 10.1016/j.nmd.2026.1073752026
Journal article
Multimodal Noninvasive Biomarker Characterization of Structural and Functional Alterations in ADSS1-Deficient Myopathy
DOI: 10.1002/jimd.701932025
Journal article
Considering the potential of ovarian hormones in rescuing neurological phenotypes in Duchenne muscular dystrophy – it's time to think beyond the muscles
DOI: 10.1016/j.mehy.2025.1117662025
Journal article
Repurposed Nrf2 activator dimethyl fumarate rescues muscle inflammation and fibrosis in an aggravated mdx mouse model of Duchenne muscular dystrophy
DOI: 10.1016/j.redox.2025.1036762025
Journal article
Haptoglobin and Glutamine Synthetase May Biomark Cachexia Induced by Antiacute Myeloid Leukaemia Chemotherapy
DOI: 10.1002/jcsm.138492024
Journal article
Current insights in ultra-rare adenylosuccinate synthetase 1 myopathy – meeting report on the First Clinical and Scientific Conference. 3 June 2024, National Centre for Advancing Translational Science, Rockville, Maryland, the United States of America
DOI: 10.1186/s13023-024-03429-x
RECENT SCHOLARLY WORKS
2024
Journal article
Moderate-term dimethyl fumarate treatment reduces fibrosis of skeletal and cardiac muscle in in the mdx mouse model of Duchenne muscular dystrophy
DOI: 10.1016/j.nmd.2024.07.2812024
Journal article
Small molecule adenylosuccinic acid supports muscle metabolism in Adss1 deficient muscle phenotypes
DOI: 10.1016/j.nmd.2024.07.7122024
Journal article
402P Faecal microbiota transplantation: a potential novel therapeutic avenue for Duchenne muscular dystrophy
DOI: 10.1016/j.nmd.2024.07.282