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Page 1
KMT2B rare missense variants in generalized dystonia.
Zech M, Jech R, Havránková P, Fečíková A, Berutti R, Urgošík D, Kemlink D, Strom TM, Roth J, Růžička E, Winkelmann J. Zech M, et al. Among authors: kemlink d. Mov Disord. 2017 Jul;32(7):1087-1091. doi: 10.1002/mds.27026. Epub 2017 May 18. Mov Disord. 2017. PMID: 28520167
Genome-wide association study of REM sleep behavior disorder identifies polygenic risk and brain expression effects.
Krohn L, Heilbron K, Blauwendraat C, Reynolds RH, Yu E, Senkevich K, Rudakou U, Estiar MA, Gustavsson EK, Brolin K, Ruskey JA, Freeman K, Asayesh F, Chia R, Arnulf I, Hu MTM, Montplaisir JY, Gagnon JF, Desautels A, Dauvilliers Y, Gigli GL, Valente M, Janes F, Bernardini A, Högl B, Stefani A, Ibrahim A, Šonka K, Kemlink D, Oertel W, Janzen A, Plazzi G, Biscarini F, Antelmi E, Figorilli M, Puligheddu M, Mollenhauer B, Trenkwalder C, Sixel-Döring F, Cochen De Cock V, Monaca CC, Heidbreder A, Ferini-Strambi L, Dijkstra F, Viaene M, Abril B, Boeve BF; 23andMe Research Team; Scholz SW, Ryten M, Bandres-Ciga S, Noyce A, Cannon P, Pihlstrøm L, Nalls MA, Singleton AB, Rouleau GA, Postuma RB, Gan-Or Z. Krohn L, et al. Among authors: kemlink d. Nat Commun. 2022 Dec 5;13(1):7496. doi: 10.1038/s41467-022-34732-5. Nat Commun. 2022. PMID: 36470867 Free PMC article.
Family-based association study of the restless legs syndrome loci 2 and 3 in a European population.
Kemlink D, Polo O, Montagna P, Provini F, Stiasny-Kolster K, Oertel W, de Weerd A, Nevsimalova S, Sonka K, Högl B, Frauscher B, Poewe W, Trenkwalder C, Pramstaller PP, Ferini-Strambi L, Zucconi M, Konofal E, Arnulf I, Hadjigeorgiou GM, Happe S, Klein C, Hiller A, Lichtner P, Meitinger T, Müller-Myshok B, Winkelmann J. Kemlink D, et al. Mov Disord. 2007 Jan 15;22(2):207-12. doi: 10.1002/mds.21254. Mov Disord. 2007. PMID: 17133505
Genetics of restless legs syndrome (RLS): State-of-the-art and future directions.
Winkelmann J, Polo O, Provini F, Nevsimalova S, Kemlink D, Sonka K, Högl B, Poewe W, Stiasny-Kolster K, Oertel W, de Weerd A, Strambi LF, Zucconi M, Pramstaller PP, Arnulf I, Trenkwalder C, Klein C, Hadjigeorgiou GM, Happe S, Rye D, Montagna P. Winkelmann J, et al. Among authors: kemlink d. Mov Disord. 2007;22 Suppl 18:S449-58. doi: 10.1002/mds.21587. Mov Disord. 2007. PMID: 17557342 Review.
Molecular diversity of combined and complex dystonia: insights from diagnostic exome sequencing.
Zech M, Jech R, Wagner M, Mantel T, Boesch S, Nocker M, Jochim A, Berutti R, Havránková P, Fečíková A, Kemlink D, Roth J, Strom TM, Poewe W, Růžička E, Haslinger B, Winkelmann J. Zech M, et al. Among authors: kemlink d. Neurogenetics. 2017 Dec;18(4):195-205. doi: 10.1007/s10048-017-0521-9. Epub 2017 Aug 28. Neurogenetics. 2017. PMID: 28849312
Diagnostic exome sequencing in early-onset Parkinson's disease confirms VPS13C as a rare cause of autosomal-recessive Parkinson's disease.
Schormair B, Kemlink D, Mollenhauer B, Fiala O, Machetanz G, Roth J, Berutti R, Strom TM, Haslinger B, Trenkwalder C, Zahorakova D, Martasek P, Ruzicka E, Winkelmann J. Schormair B, et al. Among authors: kemlink d. Clin Genet. 2018 Mar;93(3):603-612. doi: 10.1111/cge.13124. Epub 2018 Jan 24. Clin Genet. 2018. PMID: 28862745
Identification of novel risk loci for restless legs syndrome in genome-wide association studies in individuals of European ancestry: a meta-analysis.
Schormair B, Zhao C, Bell S, Tilch E, Salminen AV, Pütz B, Dauvilliers Y, Stefani A, Högl B, Poewe W, Kemlink D, Sonka K, Bachmann CG, Paulus W, Trenkwalder C, Oertel WH, Hornyak M, Teder-Laving M, Metspalu A, Hadjigeorgiou GM, Polo O, Fietze I, Ross OA, Wszolek Z, Butterworth AS, Soranzo N, Ouwehand WH, Roberts DJ, Danesh J, Allen RP, Earley CJ, Ondo WG, Xiong L, Montplaisir J, Gan-Or Z, Perola M, Vodicka P, Dina C, Franke A, Tittmann L, Stewart AFR, Shah SH, Gieger C, Peters A, Rouleau GA, Berger K, Oexle K, Di Angelantonio E, Hinds DA, Müller-Myhsok B, Winkelmann J; 23andMe Research Team; DESIR study group. Schormair B, et al. Among authors: kemlink d. Lancet Neurol. 2017 Nov;16(11):898-907. doi: 10.1016/S1474-4422(17)30327-7. Lancet Neurol. 2017. PMID: 29029846 Free PMC article. Review.
90 results