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Khan, K.* et al.: Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia. Genet. Med., accepted (2019)
Lane, J.M.* et al.: Biological and clinical insights from genetics of insomnia symptoms. Nat. Genet. 51, 387-393 (2019)
Rietschel, M.* & Winkelmann, J.: Genetics in neurology and psychiatry. Nervenarzt 90, 97-98 (2019)
Salminen, A.V. et al.: Reply to: A note on rotigotine for restless legs syndrome after renal transplantation. Mov. Disord. 34, 152-153 (2019)
Salminen, A.V. et al.: Reply to: Safety of dopamine agonists for treating restless legs syndrome. Mov. Disord. 34, 150-151 (2019)
Salminen, A.V. ; Lam, D. & Winkelmann, J.: Role of MEIS1 in RLS: From GWAS to functional studies in mice. In: Advances in Pharmacology. 2019. accepted
Zech, M. ; Wagner, M. ; Schormair, B. ; Oexle, K. & Winkelmann, J.: Exomdiagnostik in der Neurologie. Nervenarzt 90, 131-137 (2019)
Barbagiovanni, G.* et al.: KMT2B is selectively required for neuronal transdifferentiation and its loss exposes dystonia candidate genes. Cell Rep. 25, 988-1001 (2018)
Bartl, M.* ; Winkelmann, J. ; Högl, B.* ; Paulus, W.* & Trenkwalder, C.*: Frequent neurological diseases associated with the restless legs syndrome. Nervenarzt 89, 1156-1164 (2018)
Jochim, A.* et al.: Microstructural white matter abnormalities in patients with COL6A3 mutations (DYT27 dystonia). Parkinsonism Relat. Disord. 46, 74-78 (2018)
Necpál, J.* et al.: Ataxia telangiectasia gene mutation in isolated segmental dystonia without ataxia and telangiectasia. Mov. Disord. Clin. Pract. 5, 89-91 (2018)
Oexle, K. & Winkelmann, J.: Common grounds for family maladies. Neuron 98, 671-672 (2018)
Pottier, C.* et al.: Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: A genome-wide association study. Lancet Neurol. 17, 548-558 (2018)
Rivas, M.A.* et al.: Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population. PLoS Genet. 14:e1007329 (2018)
Salminen, A.V. et al.: Sleep disturbance by pramipexole is modified by Meis1 in mice. J. Sleep Res. 27:e12557 (2018)
Salminen, A.V. & Winkelmann, J.: Restless legs syndrome and other movement disorders of sleeptreatment update. Curr. Treat. Options Neurol. 20:55 (2018)
Trenkwalder, C.* et al.: Comorbidities, treatment, and pathophysiology in restless legs syndrome. Lancet Neurol. 17, 994-1005 (2018)
Winkelmann, J. et al.: Treatment of restless legs syndrome: Evidence-based review and implications for clinical practice (Revised 2017)§. Mov. Disord. 33, 1077-1091 (2018)
Zech, M. et al.: A unique de novo gain-of-function variant in CAMK4 associated with intellectual disability and hyperkinetic movement disorder. Cold Spring Harb. Mol. Case Stud. 4, accepted (2018)
Allen, R.P.* et al.: Animal models of RLS phenotypes. Sleep Med. 31, 23-28 (2017)