List of works - Juliane Winkelmann

"Anxietas tibiarum". Depression and anxiety disorders in patients with restless legs syndrome.

scientific article published in January 2005

"Malignant restless legs syndrome"--a curse or a blessing?

scientific article

"Restless legs" in "The Wedding Proposal" by Anton Chekhov

scientific article

A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease

scientific article

Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation

scientific article

Action myoclonus-renal failure syndrome: characterization of a unique cerebro-renal disorder

scientific article published on 13 September 2004

Alterations in Lipid and Inositol Metabolisms in Two Dopaminergic Disorders

scientific article published on 25 January 2016

Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis

scientific article published on 29 September 2013

Animal studies in restless legs syndrome

scientific article published on January 2007

Assessment of spontaneously occurring periodic limb movements in sleep in the rat.

scientific article published in June 2002

Association between variants of PRDM1 and NDP52 and Crohn's disease, based on exome sequencing and functional studies

scientific article published on 25 April 2013

Association of CLEC16A with human common variable immunodeficiency disorder and role in murine B cells

scientific article published on 20 April 2015

Blood cis-eQTL analysis fails to identify novel association signals among sub-threshold candidates from genome-wide association studies in restless legs syndrome

scientific article

Class II HLA interactions modulate genetic risk for multiple sclerosis

scientific article published on 07 September 2015

Clinical trials in restless legs syndrome--recommendations of the European RLS Study Group (EURLSSG).

scientific article published in January 2007

Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathways ⬇️

scientific article

Common variants in P2RY11 are associated with narcolepsy

scientific article

Complex segregation analysis of restless legs syndrome provides evidence for an autosomal dominant mode of inheritance in early age at onset families

article

Corrigendum: Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis

scientific article published on 30 March 2015

Crowned-Dens-Syndrom

scientific article published on 29 July 2012

Current treatment options for restless legs syndrome

scientific article published on October 2003

DYT16 revisited: exome sequencing identifies PRKRA mutations in a European dystonia family

scientific article published on 20 August 2014

Dense genotyping of immune-related disease regions identifies nine new risk loci for primary sclerosing cholangitis.

scientific article

Dense genotyping of immune-related loci in idiopathic inflammatory myopathies confirms HLA alleles as the strongest genetic risk factor and suggests different genetic background for major clinical subgroups

scientific article published on 11 September 2015

Dilution of candidates: the case of iron-related genes in restless legs syndrome

scientific article published on 29 August 2012

Epidemiology of restless legs syndrome: the current status.

scientific article published on June 2006

Erratum: Common variants in P2RY11 are associated with narcolepsy

scholarly article published in Nature Genetics

Erratum: Narcolepsy is strongly associated with the T-cell receptor alpha locus

scholarly article published in Nature Genetics

Evidence for further genetic locus heterogeneity and confirmation of RLS-1 in restless legs syndrome

scientific article

Excess of rare coding variants in PLD3 in late- but not early-onset Alzheimer's disease

scientific article published on 9 January 2015

Family-based association study of the restless legs syndrome loci 2 and 3 in a European population

scientific article

Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis

scientific article

Genetic variants in the immunoglobulin heavy chain locus are associated with the IgG index in multiple sclerosis

scientific article published on 7 December 2012

Genetics of restless legs syndrome

scientific article published on 18 April 2006

Genetics of restless legs syndrome

scientific article published in May 2008

Genetics of restless legs syndrome (RLS): State-of-the-art and future directions

scientific article published on January 2007

Genetics of restless legs syndrome: A burning urge to move

scientific article published on 25 February 2008

Genetics of sleep and sleep disorders

scientific article published on 15 March 2007

Genetics of sleep disorders

scientific article published in 2011

Genome-wide Association Analysis of Psoriatic Arthritis and Cutaneous Psoriasis Reveals Differences in Their Genetic Architecture

scientific article

Genome-wide association study identifies novel restless legs syndrome susceptibility loci on 2p14 and 16q12.1

scientific journal article

Genome-wide association study of restless legs syndrome identifies common variants in three genomic regions

scientific article

Guidelines for the first-line treatment of restless legs syndrome/Willis-Ekbom disease, prevention and treatment of dopaminergic augmentation: a combined task force of the IRLSSG, EURLSSG, and the RLS-foundation

scientific article published on 23 February 2016

HLA DQB1*06:02 negative narcolepsy with hypocretin/orexin deficiency

scientific article

Heritability of sleep electroencephalogram

scientific article published on 11 April 2008

High-density genotyping study identifies four new susceptibility loci for atopic dermatitis

scientific article published on 02 June 2013

High-dose treatment with pergolide in Parkinson's disease patients with motor fluctuations and dyskinesias

scientific article published in September 2005

Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease

scientific article

Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity.

scientific article

Identification of Immune-Relevant Factors Conferring Sarcoidosis Genetic Risk

scientific article

ImmunoChip study implicates antigen presentation to T cells in narcolepsy

scientific article

Large-scale TUBB4A mutational screening in isolated dystonia and controls

scientific article published on 20 August 2015

Long-term course of restless legs syndrome in dialysis patients after kidney transplantation

scientific article published in September 2002

Long-term follow-up on restless legs syndrome patients treated with opioids

scientific article published in November 2001

MEIS1 and BTBD9: genetic association with restless leg syndrome in end stage renal disease

scientific article

Meis1: effects on motor phenotypes and the sensorimotor system in mice

scientific article published on 23 June 2017

Mitochondrial membrane protein associated neurodegenration: a novel variant of neurodegeneration with brain iron accumulation

scientific article published on 19 November 2012

Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy.

scientific article

Mutational screening of THAP1 in a German population with primary dystonia

scientific article

Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy

scientific article

Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome

scientific article (publication date: September 2001)

Myoclonus-dystonia in 18p deletion syndrome

scientific article published on 13 December 2010

Narcolepsy is a common phenotype in HSAN IE and ADCA-DN.

scientific article

Narcolepsy is strongly associated with the T-cell receptor alpha locus

scientific article

Network-based SNP meta-analysis identifies joint and disjoint genetic features across common human diseases

scientific article published on 18 September 2012

Niemann-Pick C disease gene mutations and age-related neurodegenerative disorders

scientific article (publication date: 2013)

Novel SCARB2 mutation in action myoclonus-renal failure syndrome and evaluation of SCARB2 mutations in isolated AMRF features

scientific article

Novel association to the proprotein convertase PCSK7 gene locus revealed by analysing soluble transferrin receptor (sTfR) levels

scientific article

Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis

scientific article

Olanzapine-induced Oculogyric Crisis

scientific article published in August 2006

Opioid and dopamine antagonist drug challenges in untreated restless legs syndrome patients

scientific article

PSEA: Phenotype Set Enrichment Analysis--a new method for analysis of multiple phenotypes

scientific article

PTPRD (protein tyrosine phosphatase receptor type delta) is associated with restless legs syndrome

scientific article published on 27 July 2008

Paroxetine treatment improves motor symptoms in patients with multiple system atrophy

scientific article published in October 2006

Pathophysiology of restless-legs syndrome. Review of current research

scientific article published in February 2001

Pergolide restores sleep maintenance but impairs sleep EEG synchronization in patients with restless legs syndrome

scientific article published in January 2002

Polysomnographic and neurometabolic features may mark preclinical autosomal dominant cerebellar ataxia, deafness, and narcolepsy due to a mutation in the DNA (cytosine-5-)-methyltransferase gene, DNMT1.

scientific article

Prolonged release oxycodone-naloxone for treatment of severe restless legs syndrome after failure of previous treatment: a double-blind, randomised, placebo-controlled trial with an open-label extension

scientific article

Rare sequence variants in ANO3 and GNAL in a primary torsion dystonia series and controls.

scientific article

Rare variants in LRRK1 and Parkinson's disease

scientific article

Rare variants in PLXNA4 and Parkinson's disease

scientific article

Rare variants in β-Amyloid precursor protein (APP) and Parkinson's disease

scientific article

Recent advances in the diagnosis, genetics and treatment of restless legs syndrome.

scientific article published on 27 April 2009

Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia

scientific article published on 21 May 2015

Replication of restless legs syndrome loci in three European populations

scientific article published on 10 March 2009

Reply to letter: Novel compound heterozygous mutations in PRKRA cause pure dystonia

scientific article published on 25 April 2015

Restless legs syndrome in Czech patients with multiple sclerosis: an epidemiological and genetic study

scientific article published on 19 May 2012

Restless legs syndrome-associated intronic common variant in Meis1 alters enhancer function in the developing telencephalon

scientific journal article

Restless legs syndrome-current therapies and management of augmentation

scientific article

Restless legs syndrome: update on pathogenesis.

scientific article

Restless-legs-Syndrom und kardiovaskuläres Risiko

scientific article published on 01 August 2011

SOX5-Null Heterozygous Mutation in a Family with Adult-Onset Hyperkinesia and Behavioral Abnormalities.

scientific article published on 29 October 2017

Short-term attention and verbal fluency is decreased in restless legs syndrome patients

scientific article published in November 2010

Sleep and periodic limb movements in corticobasal degeneration

scientific article published in January 2002

Suggestive evidence for linkage for restless legs syndrome on chromosome 19p13.

scientific article published on 10 January 2008

Systematic TOR1A non-c.907_909delGAG variant analysis in isolated dystonia and controls.

scientific article published on 25 July 2016

TOR1A, THAP1, and GNAL mutational screening in Austrian patients with primary isolated dystonia.

scientific article published on 28 October 2015

Targeted resequencing and systematic in vivo functional testing identifies rare variants in MEIS1 as significant contributors to restless legs syndrome

scientific article

The clinical phenotype of early-onset isolated dystonia caused by recessive COL6A3 mutations (DYT27).

scientific article

The genetics of restless legs syndrome ⬇️

scientific article published on November 1, 2002

The role ofSCARB2as susceptibility factor in Parkinson's disease

scholarly article by Franziska Hopfner et al published 13 February 2013 in Movement Disorders

Treatment of restless leg syndrome with pergolide--an open clinical trial

scientific article published in May 1998

Variant screening of the coding regions of MEIS1 in patients with restless legs syndrome

Variants in eukaryotic translation initiation factor 4G1 in sporadic Parkinson's disease

scientific article published on 16 June 2012

Variants in the neuronal nitric oxide synthase (nNOS, NOS1) gene are associated with restless legs syndrome

scientific article

Variation within the Huntington's disease gene influences normal brain structure

scientific article (publication date: 2012)

When restless legs syndrome turns malignant.

scientific article published on 3 May 2013

List of works by Juliane Winkelmann

"Anxietas tibiarum". Depression and anxiety disorders in patients with restless legs syndrome.

"Malignant restless legs syndrome"--a curse or a blessing?

"Restless legs" in "The Wedding Proposal" by Anton Chekhov

A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease

Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation

Action myoclonus-renal failure syndrome: characterization of a unique cerebro-renal disorder

Alterations in Lipid and Inositol Metabolisms in Two Dopaminergic Disorders

Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis

Animal studies in restless legs syndrome

Assessment of spontaneously occurring periodic limb movements in sleep in the rat.

Association between variants of PRDM1 and NDP52 and Crohn's disease, based on exome sequencing and functional studies

Association of CLEC16A with human common variable immunodeficiency disorder and role in murine B cells

Blood cis-eQTL analysis fails to identify novel association signals among sub-threshold candidates from genome-wide association studies in restless legs syndrome

Class II HLA interactions modulate genetic risk for multiple sclerosis

Clinical trials in restless legs syndrome--recommendations of the European RLS Study Group (EURLSSG).

Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathways ⬇️

Common variants in P2RY11 are associated with narcolepsy

Complex segregation analysis of restless legs syndrome provides evidence for an autosomal dominant mode of inheritance in early age at onset families

Corrigendum: Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis

Crowned-Dens-Syndrom

Current treatment options for restless legs syndrome

DYT16 revisited: exome sequencing identifies PRKRA mutations in a European dystonia family

Dense genotyping of immune-related disease regions identifies nine new risk loci for primary sclerosing cholangitis.

Dense genotyping of immune-related loci in idiopathic inflammatory myopathies confirms HLA alleles as the strongest genetic risk factor and suggests different genetic background for major clinical subgroups

Dilution of candidates: the case of iron-related genes in restless legs syndrome

Epidemiology of restless legs syndrome: the current status.

Erratum: Common variants in P2RY11 are associated with narcolepsy

Erratum: Narcolepsy is strongly associated with the T-cell receptor alpha locus

Evidence for further genetic locus heterogeneity and confirmation of RLS-1 in restless legs syndrome

Excess of rare coding variants in PLD3 in late- but not early-onset Alzheimer's disease

Family-based association study of the restless legs syndrome loci 2 and 3 in a European population

Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis

Genetic variants in the immunoglobulin heavy chain locus are associated with the IgG index in multiple sclerosis

Genetics of restless legs syndrome

Genetics of restless legs syndrome

Genetics of restless legs syndrome (RLS): State-of-the-art and future directions

Genetics of restless legs syndrome: A burning urge to move

Genetics of sleep and sleep disorders

Genetics of sleep disorders

Genome-wide Association Analysis of Psoriatic Arthritis and Cutaneous Psoriasis Reveals Differences in Their Genetic Architecture

Genome-wide association study identifies novel restless legs syndrome susceptibility loci on 2p14 and 16q12.1

Genome-wide association study of restless legs syndrome identifies common variants in three genomic regions

Guidelines for the first-line treatment of restless legs syndrome/Willis-Ekbom disease, prevention and treatment of dopaminergic augmentation: a combined task force of the IRLSSG, EURLSSG, and the RLS-foundation

HLA DQB1*06:02 negative narcolepsy with hypocretin/orexin deficiency

Heritability of sleep electroencephalogram

High-density genotyping study identifies four new susceptibility loci for atopic dermatitis

High-dose treatment with pergolide in Parkinson's disease patients with motor fluctuations and dyskinesias

Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease

Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity.

Identification of Immune-Relevant Factors Conferring Sarcoidosis Genetic Risk

ImmunoChip study implicates antigen presentation to T cells in narcolepsy

Large-scale TUBB4A mutational screening in isolated dystonia and controls

Long-term course of restless legs syndrome in dialysis patients after kidney transplantation

Long-term follow-up on restless legs syndrome patients treated with opioids

MEIS1 and BTBD9: genetic association with restless leg syndrome in end stage renal disease

Meis1: effects on motor phenotypes and the sensorimotor system in mice

Mitochondrial membrane protein associated neurodegenration: a novel variant of neurodegeneration with brain iron accumulation

Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy.

Mutational screening of THAP1 in a German population with primary dystonia

Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy

Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome

Myoclonus-dystonia in 18p deletion syndrome

Narcolepsy is a common phenotype in HSAN IE and ADCA-DN.

Narcolepsy is strongly associated with the T-cell receptor alpha locus

Network-based SNP meta-analysis identifies joint and disjoint genetic features across common human diseases

Niemann-Pick C disease gene mutations and age-related neurodegenerative disorders

Novel SCARB2 mutation in action myoclonus-renal failure syndrome and evaluation of SCARB2 mutations in isolated AMRF features

Novel association to the proprotein convertase PCSK7 gene locus revealed by analysing soluble transferrin receptor (sTfR) levels

Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis

Olanzapine-induced Oculogyric Crisis

Opioid and dopamine antagonist drug challenges in untreated restless legs syndrome patients

PSEA: Phenotype Set Enrichment Analysis--a new method for analysis of multiple phenotypes

PTPRD (protein tyrosine phosphatase receptor type delta) is associated with restless legs syndrome

Paroxetine treatment improves motor symptoms in patients with multiple system atrophy

Pathophysiology of restless-legs syndrome. Review of current research

Pergolide restores sleep maintenance but impairs sleep EEG synchronization in patients with restless legs syndrome

Polysomnographic and neurometabolic features may mark preclinical autosomal dominant cerebellar ataxia, deafness, and narcolepsy due to a mutation in the DNA (cytosine-5-)-methyltransferase gene, DNMT1.

Prolonged release oxycodone-naloxone for treatment of severe restless legs syndrome after failure of previous treatment: a double-blind, randomised, placebo-controlled trial with an open-label extension

Rare sequence variants in ANO3 and GNAL in a primary torsion dystonia series and controls.