Harmonizing gene nomenclature and disease classification for ADSS1 myopathy

Emma Rybalka, Oleg A. Shchelochkov, Merve Koç Yekedüz, Jaymin Upadhyay, Alan H. Beggs

Open source

DOI: 10.1186/s13023-026-04535-8
Published: 2026-08-05
Container: Orphanet Journal of Rare Diseases
Publisher: Springer Science and Business Media LLC
Open access: unknown

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Cite this work

BibTeX

@article{allodium:10.1186/s13023-026-04535-8,
  title = {Harmonizing gene nomenclature and disease classification for ADSS1 myopathy},
  author = {Emma Rybalka and Oleg A. Shchelochkov and Merve Koç Yekedüz and Jaymin Upadhyay and Alan H. Beggs},
  year = {2026},
  journal = {Orphanet Journal of Rare Diseases},
  doi = {10.1186/s13023-026-04535-8},
  url = {https://doi.org/10.1186/s13023-026-04535-8}
}

RIS

TY  - JOUR
TI  - Harmonizing gene nomenclature and disease classification for ADSS1 myopathy
AU  - Emma Rybalka
AU  - Oleg A. Shchelochkov
AU  - Merve Koç Yekedüz
AU  - Jaymin Upadhyay
AU  - Alan H. Beggs
PY  - 2026
JO  - Orphanet Journal of Rare Diseases
DO  - 10.1186/s13023-026-04535-8
UR  - https://doi.org/10.1186/s13023-026-04535-8
ER  -

APA

Rybalka, E., Shchelochkov, O. A., Yekedüz, M. K., Upadhyay, J., & Beggs, A. H. (2026). Harmonizing gene nomenclature and disease classification for ADSS1 myopathy. Orphanet Journal of Rare Diseases. https://doi.org/10.1186/s13023-026-04535-8

Source records

crossref · retrieved 2026-11-09T03:01:51.560Z