STUB1-Associated Autosomal-Recessive Spinocerebellar Ataxia Type 16 (SCAR16) Presenting with Gordon-Holmes Syndrome Caused by Maternal Uniparental Isodisomy
Mov Disord Clin Pract
.
2025 Apr;12(4):533-536.
doi: 10.1002/mdc3.14322.
Epub 2024 Dec 27.
Authors
Habibah A P Agianda
1
,
Amy Tam
1
,
Avaneesh Kunta
2
,
Umar Zubair
1
,
Afshin Saffari
1
,
Joshua Rong
1
,
Michelle Crough
1
,
Rasha Srouji
1
,
Vicente Quiroz
1
,
Kathryn Yang
1
,
Luca Schierbaum
1
,
Darius Ebrahimi-Fakhari
1
Affiliations
1
Movement Disorders Program, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
2
University of Central Florida College of Medicine, Orlando, Florida, USA.
PMID:
39728009
PMCID:
PMC11998683
(available on
2025-12-27
)
DOI:
10.1002/mdc3.14322
No abstract available
Publication types
Letter
Grants and funding
Boston Children's Hospital Children's Rare Disease Cohorts (CRDC)
Spastic Paraplegia Foundation
Boston Children's Hospital Translational Research Program
K08NS123552-01/NS/NINDS NIH HHS/United States
International Parkinson and Movement Disorder Society
German Research Foundation (536105452)
K08NS123552-01/NS/NINDS NIH HHS/United States