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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: domingo a. Mov Disord. 2013 May;28(5):675-8. doi: 10.1002/mds.25369. Epub 2013 Feb 6. Mov Disord. 2013. PMID: 23389859
Mutations in GNAL: a novel cause of craniocervical dystonia.
Kumar KR, Lohmann K, Masuho I, Miyamoto R, Ferbert A, Lohnau T, Kasten M, Hagenah J, Brüggemann N, Graf J, Münchau A, Kostic VS, Sue CM, Domingo AR, Rosales RL, Lee LV, Freimann K, Westenberger A, Mukai Y, Kawarai T, Kaji R, Klein C, Martemyanov KA, Schmidt A. Kumar KR, et al. Among authors: domingo ar. JAMA Neurol. 2014 Apr;71(4):490-4. doi: 10.1001/jamaneurol.2013.4677. JAMA Neurol. 2014. PMID: 24535567 Free PMC article.
New insights into the genetics of X-linked dystonia-parkinsonism (XDP, DYT3).
Domingo A, Westenberger A, Lee LV, Brænne I, Liu T, Vater I, Rosales R, Jamora RD, Pasco PM, Cutiongco-Dela Paz EM, Freimann K, Schmidt TG, Dressler D, Kaiser FJ, Bertram L, Erdmann J, Lohmann K, Klein C. Domingo A, et al. Eur J Hum Genet. 2015 Oct;23(10):1334-40. doi: 10.1038/ejhg.2014.292. Epub 2015 Jan 21. Eur J Hum Genet. 2015. PMID: 25604858 Free PMC article.
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. 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
Alternating Hemiplegia of Childhood as a New Presentation of Adenylate Cyclase 5-Mutation-Associated Disease: A Report of Two Cases.
Westenberger A, Max C, Brüggemann N, Domingo A, Grütz K, Pawlack H, Weissbach A, Kühn AA, Spiegler J, Lang AE, Sperner J, Fung VSC, Schallner J, Gillessen-Kaesbach G, Münchau A, Klein C. Westenberger A, et al. Among authors: domingo a. J Pediatr. 2017 Feb;181:306-308.e1. doi: 10.1016/j.jpeds.2016.10.079. Epub 2016 Dec 6. J Pediatr. 2017. PMID: 27931826
327 results