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X-linked Dystonia-Parkinsonism manifesting in a female patient due to atypical turner syndrome.
Westenberger A, Rosales RL, Heinitz S, Freimann K, Lee LV, Jamora RD, Ng AR, Domingo A, Lohmann K, Walter U, Gölnitz U, Rolfs A, Nagel I, Gillessen-Kaesbach G, Siebert R, Dressler D, Klein C. Westenberger A, et al. Among authors: rolfs a. Mov Disord. 2013 May;28(5):675-8. doi: 10.1002/mds.25369. Epub 2013 Feb 6. Mov Disord. 2013. PMID: 23389859
Evidence of TAF1 dysfunction in peripheral models of X-linked dystonia-parkinsonism.
Domingo A, Amar D, Grütz K, Lee LV, Rosales R, Brüggemann N, Jamora RD, Cutiongco-Dela Paz E, Rolfs A, Dressler D, Walter U, Krainc D, Lohmann K, Shamir R, Klein C, Westenberger A. Domingo A, et al. Among authors: rolfs a. Cell Mol Life Sci. 2016 Aug;73(16):3205-15. doi: 10.1007/s00018-016-2159-4. Epub 2016 Feb 15. Cell Mol Life Sci. 2016. PMID: 26879577 Free PMC article.
427 results