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Elucidating Hexanucleotide Repeat Number and Methylation within the X-Linked Dystonia-Parkinsonism (XDP)-Related SVA Retrotransposon in TAF1 with Nanopore Sequencing.
Lüth T, Laβ J, Schaake S, Wohlers I, Pozojevic J, Jamora RDG, Rosales RL, Brüggemann N, Saranza G, Diesta CCE, Schlüter K, Tse R, Reyes CJ, Brand M, Busch H, Klein C, Westenberger A, Trinh J. Lüth T, et al. Among authors: rosales rl. Genes (Basel). 2022 Jan 11;13(1):126. doi: 10.3390/genes13010126. Genes (Basel). 2022. PMID: 35052466 Free PMC article.
The unique phenomenology of sex-linked dystonia parkinsonism (XDP, DYT3, "Lubag").
Lee LV, Rivera C, Teleg RA, Dantes MB, Pasco PM, Jamora RD, Arancillo J, Villareal-Jordan RF, Rosales RL, Demaisip C, Maranon E, Peralta O, Borres R, Tolentino C, Monding MJ, Sarcia S. Lee LV, et al. Among authors: rosales rl. Int J Neurosci. 2011;121 Suppl 1:3-11. doi: 10.3109/00207454.2010.526728. Epub 2010 Nov 3. Int J Neurosci. 2011. PMID: 21047175 Review.
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: rosales rl. 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: rosales rl. 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.
RAB39B mutations are a rare finding in Parkinson disease patients.
Löchte T, Brüggemann N, Vollstedt EJ, Krause P, Domingo A, Rosales R, Lee LV, Hopfner F, Westenberger A, Kühn A, Klein C, Lohmann K. Löchte T, et al. Parkinsonism Relat Disord. 2016 Feb;23:116-7. doi: 10.1016/j.parkreldis.2015.12.014. Epub 2015 Dec 22. Parkinsonism Relat Disord. 2016. PMID: 26739247 No abstract available.
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 Free PMC article.
120 results