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. 2025 Apr;12(4):533-536.
doi: 10.1002/mdc3.14322. Epub 2024 Dec 27.

STUB1-Associated Autosomal-Recessive Spinocerebellar Ataxia Type 16 (SCAR16) Presenting with Gordon-Holmes Syndrome Caused by Maternal Uniparental Isodisomy

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

STUB1-Associated Autosomal-Recessive Spinocerebellar Ataxia Type 16 (SCAR16) Presenting with Gordon-Holmes Syndrome Caused by Maternal Uniparental Isodisomy

Habibah A P Agianda et al. Mov Disord Clin Pract. 2025 Apr.
No abstract available

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References

    1. Shi CH, Schisler JC, Rubel CE, et al. Ataxia and hypogonadism caused by the loss of ubiquitin ligase activity of the U box protein CHIP. Hum Mol Genet 2014;23(4):1013–1024. - PMC - PubMed
    1. Lange LM, Gonzalez‐Latapi P, Rajalingam R, et al. Nomenclature of genetic movement disorders: recommendations of the International Parkinson and Movement Disorder Society task force: an update. Mov Disord 2022;37(5):905–935. - PubMed
    1. Pratt WB, Gestwicki JE, Osawa Y, Lieberman AP. Targeting Hsp90/Hsp70‐based protein quality control for treatment of adult onset neurodegenerative diseases. Annu Rev Pharmacol Toxicol 2015;55:353–371. - PMC - PubMed
    1. Gonzalez‐Latapi P, Sousa M, Lang AE. Movement disorders associated with hypogonadism. Mov Disord Clin Pract 2021;8(7):997–1011. - PMC - PubMed
    1. Olszewska DA, Kinsella JA. Extending the phenotypic Spectrum associated with STUB1 mutations: a case of dystonia. Mov Disord Clin Pract 2020;7(3):318–324. - PMC - PubMed

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