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Nomenclature of genetic movement disorders: Recommendations of the International Parkinson and Movement Disorder Society task force.
Marras C, Lang A, van de Warrenburg BP, Sue CM, Tabrizi SJ, Bertram L, Mercimek-Mahmutoglu S, Ebrahimi-Fakhari D, Warner TT, Durr A, Assmann B, Lohmann K, Kostic V, Klein C. Marras C, et al. Among authors: assmann b. Mov Disord. 2017 May;32(5):724-725. doi: 10.1002/mds.27045. Mov Disord. 2017. PMID: 28513081 No abstract available.
Reply letter to Jinnah "Locus pocus" and Albanese "Complex dystonia is not a category in the new 2013 consensus classification": Necessary evolution, no magic!
Klein C, Lang A, van de Warrenburg BP, Sue CM, Tabrizi SJ, Bertram L, Mercimek-Mahmutoglu S, Ebrahimi-Fakhari D, Warner TT, Durr A, Assmann B, Kostic V, Lohmann K, Marras C; International Parkinson and Movement Disorder Society Task Force on Classification and Nomenclature of Genetic Movement Disorders. Klein C, et al. Among authors: assmann b. Mov Disord. 2016 Nov;31(11):1760-1762. doi: 10.1002/mds.26763. Epub 2016 Sep 13. Mov Disord. 2016. PMID: 27619077 No abstract available.
Novel mutations in KMT2B offer pathophysiological insights into childhood-onset progressive dystonia.
Dafsari HS, Sprute R, Wunderlich G, Daimagüler HS, Karaca E, Contreras A, Becker K, Schulze-Rhonhof M, Kiening K, Karakulak T, Kloss M, Horn A, Pauls A, Nürnberg P, Altmüller J, Thiele H, Assmann B, Koy A, Cirak S. Dafsari HS, et al. Among authors: assmann b. J Hum Genet. 2019 Aug;64(8):803-813. doi: 10.1038/s10038-019-0625-1. Epub 2019 Jun 5. J Hum Genet. 2019. PMID: 31165786
Diagnosis of CoPAN by whole exome sequencing: Waking up a sleeping tiger's eye.
Evers C, Seitz A, Assmann B, Opladen T, Karch S, Hinderhofer K, Granzow M, Paramasivam N, Eils R, Diessl N, Bartram CR, Moog U. Evers C, et al. Among authors: assmann b. Am J Med Genet A. 2017 Jul;173(7):1878-1886. doi: 10.1002/ajmg.a.38252. Epub 2017 May 10. Am J Med Genet A. 2017. PMID: 28489334
78 results