Research Topics
Genomes and GenesSpecies | Juliane WinkelmannSummaryAffiliation: Max Planck Institute of Psychiatry Country: Germany Publications
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Detail Information
Publications
Clinical characteristics and frequency of the hereditary restless legs syndrome in a population of 300 patientsJ 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...- [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... - Retention of dopamine 2 receptor mRNA and absence of the protein in craniospinal and extracranial metastasis of a malignant prolactinoma: a case reportJ 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... - Long-term course of restless legs syndrome in dialysis patients after kidney transplantationJuliane 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... - Genome-wide association study of restless legs syndrome identifies common variants in three genomic regionsJuliane 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... - Variants in the neuronal nitric oxide synthase (nNOS, NOS1) gene are associated with restless legs syndromeJuliane 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... 
Suggestive evidence for linkage for restless legs syndrome on chromosome 19p13David 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...
PTPRD (protein tyrosine phosphatase receptor type delta) is associated with restless legs syndromeBarbara 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...- Genome-wide association study identifies novel restless legs syndrome susceptibility loci on 2p14 and 16q12.1Juliane 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... - MEIS1 and BTBD9: genetic association with restless leg syndrome in end stage renal diseaseBarbara 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... - Evidence for further genetic locus heterogeneity and confirmation of RLS-1 in restless legs syndromeJuliane 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... - Dilution of candidates: the case of iron-related genes in restless legs syndromeKonrad 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... - Genetics of restless legs syndrome (RLS): State-of-the-art and future directionsJuliane 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... - Short-term attention and verbal fluency is decreased in restless legs syndrome patientsStephany 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... - Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsyJuliane 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... - Family-based association study of the restless legs syndrome loci 2 and 3 in a European populationDavid 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... - Heritability of sleep electroencephalogramUrte 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... - The role of SCARB2 as susceptibility factor in Parkinson's diseaseFranziska Hopfner
Institute of Human Genetics, Helmholtz Zentrum Munchen, German Research Center for Environmental Health, Neuherberg, Germany Institute of Human Genetics, Klinikum rechts der Isar, Technische Universitat Munchen, Munich, Germany Department of Neurology, Christian Albrechts University Kiel, Kiel, 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... - Complex segregation analysis of restless legs syndrome provides evidence for an autosomal dominant mode of inheritance in early age at onset familiesJuliane 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... - Novel SCARB2 mutation in action myoclonus-renal failure syndrome and evaluation of SCARB2 mutations in isolated AMRF featuresFranziska 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... - Current treatment options for restless legs syndromeThomas 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... - Mitochondrial membrane protein associated neurodegenration: a novel variant of neurodegeneration with brain iron accumulationEva 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)... - Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulationMonika 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... - Genetics of restless legs syndromeJuliane 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... - Variants in eukaryotic translation initiation factor 4G1 in sporadic Parkinson's diseaseEva 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... - Novel association to the proprotein convertase PCSK7 gene locus revealed by analysing soluble transferrin receptor (sTfR) levelsKonrad Oexle
Institute of Human Genetics, MRI, Technische Universitat Munchen, Munich, Germany
Hum Mol Genet 20:1042-7. 2011.... - High-dose treatment with pergolide in Parkinson's disease patients with motor fluctuations and dyskinesiasAlexander 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... - Paroxetine treatment improves motor symptoms in patients with multiple system atrophyElisabeth 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... - Health economic burden of patients with restless legs syndrome in a German ambulatory settingRichard 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...