A Multinational Study of Patient and Caregiver‐Reported Insights Into <scp>ADSS1</scp> Myopathy
This study highlights the significant physical and psychosocial burden of ADSS1 myopathy, with progressive muscle weakness and multisystem involvement affecting daily life. The findings underscore the need for early diagnosis and multidisciplinary care approaches.
Authors
- Julie Shulman (ORCID: https://orcid.org/0000-0002-5530-9692)
- Jaymin Upadhyay (ORCID: https://orcid.org/0000-0002-8682-163X)
- Atchayaram Nalini (ORCID: https://orcid.org/0000-0001-9791-3639)
- Raquel van Gool (ORCID: https://orcid.org/0000-0001-6486-2388)
- Dipti Baskar (ORCID: https://orcid.org/0000-0002-8362-7380)
- Buket Sonbas Cobb (ORCID: https://orcid.org/0000-0001-7335-0616)
- Alan H. Beggs (ORCID: https://orcid.org/0000-0001-8818-0568)
- Hanne van der Heijden
- Walla Al‐Hertani (ORCID: https://orcid.org/0000-0001-8967-8640)
- Merve Koç Yekedüz (ORCID: https://orcid.org/0000-0003-0637-417X)
- Seward B. Rutkove
- Hyung Jun Park (ORCID: https://orcid.org/0000-0003-4165-8901)
- Yunjung Choi (ORCID: https://orcid.org/0000-0003-1323-7421)
- Soo‐Hyun Kim
- Naveen Baweja
- Priyanka Kakkar
- Lise Vrolix
Institutions
- Boston Children's Hospital (US)
- Children's Hospital of Orange County (US)
- Beth Israel Deaconess Medical Center (US)
- Harvard University (US)
- Ankara University (TR)
- Yonsei University (KR)
- Gangnam Severance Hospital (KR)
- Center for Pain and the Brain (US)
- Dana-Farber/Boston Children's Cancer and Blood Disorders Center (US)
- Glendale Community College (US)
- National Institute of Mental Health and Neurosciences (IN)
- Harran University (TR)
Publication Details
- Journal
- Muscle & Nerve
- Published
- 2025-09-25
- DOI
- https://doi.org/10.1002/mus.70033
- Citations
- 1
- Primary Topic
- Biochemical and Molecular Research
- Type
- article
- Field-Weighted Citation Impact
- 0.81