Juliane Winkelmann

Summary

Affiliation: Max Planck Institute of Psychiatry
Country: Germany

Publications

  1. ncbi Clinical characteristics and frequency of the hereditary restless legs syndrome in a population of 300 patients
    J Winkelmann
    Max Planck Institute of Psychiatry, Section of Neurology, Munich, Germany
    Sleep 23:597-602. 2000
  2. ncbi [Pathophysiology of restless-legs syndrome. Review of current research]
    J Winkelmann
    Max Planck Institut fur Psychiatrie, Neurologie, Kraepelinstrasse 10, 80804 München
    Nervenarzt 72:100-7. 2001
  3. ncbi Retention of dopamine 2 receptor mRNA and absence of the protein in craniospinal and extracranial metastasis of a malignant prolactinoma: a case report
    J Winkelmann
    Department of Neurology, Max Planck Institute of Psychiatry, Kraepelinstrasse 10, 80804 Munich, Germany
    Eur J Endocrinol 146:81-8. 2002
  4. ncbi Genome-wide association study of restless legs syndrome identifies common variants in three genomic regions
    Juliane Winkelmann
    Institute of Human Genetics, GSF National Research Center of Environment and Health, D 85764 Neuherberg, Munich, Germany
    Nat Genet 39:1000-6. 2007
  5. ncbi Long-term course of restless legs syndrome in dialysis patients after kidney transplantation
    Juliane Winkelmann
    Max Planck Institute of Psychiatry, Munich, Germany
    Mov Disord 17:1072-6. 2002
  6. pmc Suggestive evidence for linkage for restless legs syndrome on chromosome 19p13
    David Kemlink
    Institute of Human Genetics, GSF National Research Center for Environment and Health, Neuherberg Munich, Germany
    Neurogenetics 9:75-82. 2008
  7. ncbi Variants in the neuronal nitric oxide synthase (nNOS, NOS1) gene are associated with restless legs syndrome
    Juliane Winkelmann
    Institute of Human Genetics, GSF National Research Center for Environment and Health, Munich, Germany
    Mov Disord 23:350-8. 2008
  8. doi PTPRD (protein tyrosine phosphatase receptor type delta) is associated with restless legs syndrome
    Barbara Schormair
    Institute of Human Genetics, Helmholtz Zentrum Munchen German Research Center for Environmental Health, Neuherberg 85764, Germany
    Nat Genet 40:946-8. 2008
  9. pmc MEIS1 and BTBD9: genetic association with restless leg syndrome in end stage renal disease
    Barbara Schormair
    Institute of Human Genetics, Helmholtz Zentrum München e German Research Center for Environmental Health, Neuherberg, Germany
    J Med Genet 48:462-6. 2011
  10. pmc Genome-wide association study identifies novel restless legs syndrome susceptibility loci on 2p14 and 16q12.1
    Juliane Winkelmann
    Institute of Human Genetics, Technische Universitat Munchen, Munich, Germany
    PLoS Genet 7:e1002171. 2011

Detail Information

Publications31

  1. ncbi Clinical characteristics and frequency of the hereditary restless legs syndrome in a population of 300 patients
    J Winkelmann
    Max Planck Institute of Psychiatry, Section of Neurology, Munich, Germany
    Sleep 23:597-602. 2000
    ..1% vs. 2.6%, p < 0.05). Our study shows that patients with hereditary RLS may experience an earlier onset of the disease. Hereditary and non-hereditary RLS present with similiar clinical signs and symptoms...
  2. ncbi [Pathophysiology of restless-legs syndrome. Review of current research]
    J Winkelmann
    Max Planck Institut fur Psychiatrie, Neurologie, Kraepelinstrasse 10, 80804 München
    Nervenarzt 72:100-7. 2001
    ..There is no anatomical structural lesion and it is more likely that circadian disturbances of dopaminergic and/or opioidergic neurotransmission are involved...
  3. ncbi Retention of dopamine 2 receptor mRNA and absence of the protein in craniospinal and extracranial metastasis of a malignant prolactinoma: a case report
    J Winkelmann
    Department of Neurology, Max Planck Institute of Psychiatry, Kraepelinstrasse 10, 80804 Munich, Germany
    Eur J Endocrinol 146:81-8. 2002
    ..In this case, the presence of dopamine 2 receptor (D2R) was studied at the mRNA and protein level, in order to understand the pathological background of the resistance to treatment with different dopamine agonists...
  4. ncbi Genome-wide association study of restless legs syndrome identifies common variants in three genomic regions
    Juliane Winkelmann
    Institute of Human Genetics, GSF National Research Center of Environment and Health, D 85764 Neuherberg, Munich, Germany
    Nat Genet 39:1000-6. 2007
    ..MEIS1 has been implicated in limb development, raising the possibility that RLS has components of a developmental disorder...
  5. ncbi Long-term course of restless legs syndrome in dialysis patients after kidney transplantation
    Juliane Winkelmann
    Max Planck Institute of Psychiatry, Munich, Germany
    Mov Disord 17:1072-6. 2002
    ..Kidney transplantation has a strong and positive influence on RLS symptoms in hemodialysis patients. Hemodialysis patients can expect a substantial improvement of RLS symptoms after a successful kidney transplant...
  6. pmc Suggestive evidence for linkage for restless legs syndrome on chromosome 19p13
    David Kemlink
    Institute of Human Genetics, GSF National Research Center for Environment and Health, Neuherberg Munich, Germany
    Neurogenetics 9:75-82. 2008
    ..The locus was replicated in a family-based association study in a set of 159 trios of European origin. This study provides evidence for a further RLS locus, thus supporting the picture of RLS as a genetically heterogenous complex trait...
  7. ncbi Variants in the neuronal nitric oxide synthase (nNOS, NOS1) gene are associated with restless legs syndrome
    Juliane Winkelmann
    Institute of Human Genetics, GSF National Research Center for Environment and Health, Munich, Germany
    Mov Disord 23:350-8. 2008
    ..Potential usage of NO modulating agents as new treatment options for RLS have become a challenging aspect for future research of this disorder...
  8. doi PTPRD (protein tyrosine phosphatase receptor type delta) is associated with restless legs syndrome
    Barbara Schormair
    Institute of Human Genetics, Helmholtz Zentrum Munchen German Research Center for Environmental Health, Neuherberg 85764, Germany
    Nat Genet 40:946-8. 2008
    ..91 x 10(-10), odds ratio (OR) = 1.44; rs1975197, P(nominal/lambda corrected) = 5.81 x 10(-9), OR = 1.31). This work identifies PTPRD as the fourth genome-wide significant locus for RLS...
  9. pmc MEIS1 and BTBD9: genetic association with restless leg syndrome in end stage renal disease
    Barbara Schormair
    Institute of Human Genetics, Helmholtz Zentrum München e German Research Center for Environmental Health, Neuherberg, Germany
    J Med Genet 48:462-6. 2011
    ..For idiopathic RLS (iRLS), genetic risk factors have been identified, but their role in RLS in ESRD has not been investigated yet. Therefore, a case-control association study of these variants in ESRD patients was performed...
  10. pmc Genome-wide association study identifies novel restless legs syndrome susceptibility loci on 2p14 and 16q12.1
    Juliane Winkelmann
    Institute of Human Genetics, Technische Universitat Munchen, Munich, Germany
    PLoS Genet 7:e1002171. 2011
    ..03 × 10(-11), OR = 1.23) and a locus on 16q12.1 (rs3104767, P = 9.4 × 10(-19), OR = 1.35) in a linkage disequilibrium block of 140 kb containing the 5'-end of TOX3 and the adjacent non-coding RNA BC034767...
  11. pmc Dilution of candidates: the case of iron-related genes in restless legs syndrome
    Konrad Oexle
    Institute of Human Genetics, Klinikum rechts der Isar, Technische Universitat Munchen, Munich, Germany
    Eur J Hum Genet 21:410-4. 2013
    ..Moreover, in a general power analysis, we show that genetic effects are diluted if they are transmitted via an intermediate trait to an end-phenotype. Sample size formulas are provided for small effect sizes...
  12. ncbi Evidence for further genetic locus heterogeneity and confirmation of RLS-1 in restless legs syndrome
    Juliane Winkelmann
    Institute of Human Genetics, GSF National Research Center for Environment and Health, Munich, Germany
    Mov Disord 21:28-33. 2006
    ..Investigations in additional RLS families are required to confirm the known loci and further genome wide linkage analyses have the potential to identify additional RLS loci...
  13. doi The role of SCARB2 as susceptibility factor in Parkinson's disease
    Franziska Hopfner
    Institute of Human Genetics, Helmholtz Zentrum Munchen, German Research Center for Environmental Health, Neuherberg, Germany
    Mov Disord 28:538-40. 2013
    ..An association between the common SNP rs6812193, upstream of SCARB2, and PD has been reported previously. The role of exonic variants in the SCARB2 gene in PD has not been examined...
  14. ncbi Genetics of restless legs syndrome (RLS): State-of-the-art and future directions
    Juliane Winkelmann
    Institute of Human Genetics, GSF National Research Center for Environment and Health, Munich, Germany
    Mov Disord 22:S449-58. 2007
    ..One important prerequisite for future successful genetic studies in RLS is the availability of large and thoroughly phenotyped patients and family samples for linkage as well as association studies...
  15. doi Mitochondrial membrane protein associated neurodegenration: a novel variant of neurodegeneration with brain iron accumulation
    Eva C Schulte
    Neurologische Klinik und Poliklinik, Klinikum rechts der Isar, Technische Universitat Munchen, Munich, Germany
    Mov Disord 28:224-7. 2013
    ..Because of the mitochondrial localization of the derived protein, this variant is referred to as mitochondrial membrane protein-associated neurodegeneration with brain iron accumulation (MPAN)...
  16. doi Short-term attention and verbal fluency is decreased in restless legs syndrome patients
    Stephany Fulda
    Max Planck Institute of Psychiatry, Munich, Germany
    Mov Disord 25:2641-8. 2010
    ..There was no difference for working memory, memory, learning, cognitive flexibility, and abstract reasoning. We conclude that there is evidence for deficits in short-term attention and verbal fluency in RLS patients...
  17. pmc Rare variants in PLXNA4 and Parkinson's disease
    Eva C Schulte
    Neurologische Klinik und Poliklinik, Klinikum rechts der Isar, Technische Universitat, Munchen, Munich, Germany Institut für Humangenetik, Helmholtz Zentrum Munchen, Munich, Germany
    PLoS ONE 8:e79145. 2013
    ....
  18. pmc Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy
    Juliane Winkelmann
    Institute of Human Genetics, Technische Universitat Munchen, Munich 81675, Germany
    Hum Mol Genet 21:2205-10. 2012
    ..Our mutations are all located in exon 21 and in very close spatial proximity, suggesting distinct phenotypes depending on mutation location within this gene...
  19. doi Heritability of sleep electroencephalogram
    Urte Ambrosius
    Max Planck Institute of Psychiatry, Munich, Germany
    Biol Psychiatry 64:344-8. 2008
    ..Here we report on the results of a classical twin study in monozygotic (MZ) and dizygotic (DZ) twin pairs examining the genetic effect on sleep electroencephalogram (EEG) composition...
  20. pmc Niemann-Pick C disease gene mutations and age-related neurodegenerative disorders
    Michael Zech
    Neurologische Klinik und Poliklinik, Klinikum rechts der Isar, Technische Universitat Munchen, Munich, Germany Institut für Humangenetik, Helmholtz Zentrum Munchen, Munich, Germany
    PLoS ONE 8:e82879. 2013
    ..Misdiagnosed NPC patients were not present in our samples. However, further assessment of NPC disease genes in age-related neurodegeneration is warranted...
  21. ncbi Family-based association study of the restless legs syndrome loci 2 and 3 in a European population
    David Kemlink
    Institute of Human Genetics, GSF National Research Center for Environment and Health, Munich, Germany
    Mov Disord 22:207-12. 2007
    ..0077, respectively). These results represent the first confirmation of these loci in a mixed European population. Variable results observed in families of different ethnic groups further corroborate the genetic complexity of RLS...
  22. pmc Novel SCARB2 mutation in action myoclonus-renal failure syndrome and evaluation of SCARB2 mutations in isolated AMRF features
    Franziska Hopfner
    Institute of Human Genetics, Helmholtz Zentrum Munchen German Research Center for Environmental Health, Neuherberg, Germany
    BMC Neurol 11:134. 2011
    ..To test the hypothesis whether isolated appearance of individual AMRF syndrome features could be related to heterozygote SCARB2 mutations, we screened for SCARB2 mutations in unrelated patients showing isolated AMRF features...
  23. ncbi Current treatment options for restless legs syndrome
    Thomas C Wetter
    Max Planck Institute of Psychiatry, Kraepelinstrasse 10, D 80804 Munich, Germany
    Expert Opin Pharmacother 4:1727-38. 2003
    ..In secondary RLS, the underlying illness should first be treated, although dopaminergic drugs may also be helpful...
  24. ncbi Complex segregation analysis of restless legs syndrome provides evidence for an autosomal dominant mode of inheritance in early age at onset families
    Juliane Winkelmann
    Section of Neurology, Max Planck Institute of Psychiatry, Munich, Germany
    Ann Neurol 52:297-302. 2002
    ..The segregation pattern found in our families argues for an autosomal allele acting dominantly in RLS families with an early age at onset of symptoms and suggests that RLS is a causative heterogeneous disease...
  25. pmc Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation
    Monika B Hartig
    Institute of Human Genetics, Technische Universitat Munchen, Munich, Germany
    Am J Hum Genet 89:543-50. 2011
    ..The mitochondrial localization together with the immunohistopathological findings suggests a pathomechanistic overlap with common forms of neurodegenerative disorders...
  26. ncbi Genetics of restless legs syndrome
    Juliane Winkelmann
    Institute of Human Genetics, GSF National Research Center for Environment and Health, Ingolstadter Landstrasse 1, D 85764 Munich Neuherberg, Germany
    Sleep Med Rev 10:179-83. 2006
    ..It is important to investigate whether further RLS families show linkage to one of these loci to discuss the contribution of these loci and to provide a prerequisite of a mutational screening and identification of the RLS genes...
  27. doi Variants in eukaryotic translation initiation factor 4G1 in sporadic Parkinson's disease
    Eva C Schulte
    Neurologische Klinik und Poliklinik, Klinikum rechts der Isar, Technische Universitat Munchen, Ismaningerstr 22, 81675 Munich, Germany
    Neurogenetics 13:281-5. 2012
    ..Arg1205 His) in three controls only, raises questions about the causality of this variant with regard to PD...
  28. ncbi High-dose treatment with pergolide in Parkinson's disease patients with motor fluctuations and dyskinesias
    Alexander Storch
    Department of Neurology, University of Ulm, Ulm, Germany
    Parkinsonism Relat Disord 11:393-8. 2005
    ..Controlled trials are needed to further substantiate the efficacy and safety of this treatment strategy...
  29. ncbi Paroxetine treatment improves motor symptoms in patients with multiple system atrophy
    Elisabeth Friess
    Max Planck Institute of Psychiatry, Kraepelinstr 10, 80804 Munich, Germany
    Parkinsonism Relat Disord 12:432-7. 2006
    ..In addition, we assessed the effects on the psychopathological status of the patients...
  30. pmc Novel association to the proprotein convertase PCSK7 gene locus revealed by analysing soluble transferrin receptor (sTfR) levels
    Konrad Oexle
    Institute of Human Genetics, MRI, Technische Universitat Munchen, Munich, Germany
    Hum Mol Genet 20:1042-7. 2011
    ....
  31. doi Health economic burden of patients with restless legs syndrome in a German ambulatory setting
    Richard Dodel
    Department of Neurology, Philipps University Marburg, Marburg, Germany
    Pharmacoeconomics 28:381-93. 2010
    ..RLS places a notable financial burden on society as well as on patients and their families. More detailed studies are needed to evaluate the health economic impact of this disorder...