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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: mercimek mahmutoglu s. 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.
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: mercimek mahmutoglu s. Mov Disord. 2017 May;32(5):724-725. doi: 10.1002/mds.27045. Mov Disord. 2017. PMID: 28513081 No abstract available.
Thirteen new patients with guanidinoacetate methyltransferase deficiency and functional characterization of nineteen novel missense variants in the GAMT gene.
Mercimek-Mahmutoglu S, Ndika J, Kanhai W, de Villemeur TB, Cheillan D, Christensen E, Dorison N, Hannig V, Hendriks Y, Hofstede FC, Lion-Francois L, Lund AM, Mundy H, Pitelet G, Raspall-Chaure M, Scott-Schwoerer JA, Szakszon K, Valayannopoulos V, Williams M, Salomons GS. Mercimek-Mahmutoglu S, et al. Hum Mutat. 2014 Apr;35(4):462-9. doi: 10.1002/humu.22511. Epub 2014 Mar 6. Hum Mutat. 2014. PMID: 24415674
67 results