Peter P. Pramstaller

Intracortical inhibition is reduced in a patient with a lesion in the posterolateral thalamus.

The pathology of the spinal cord in progressive supranuclear palsy.

The striatal dopaminergic deficit is dependent on the number of mutant alleles in a family with mutations in the parkin gene: evidence for enzymatic parkin function in humans.

PARK3 influences age at onset in Parkinson disease: a genome scan in the GenePD study.

Phenotypic variability in a large kindred (Family LA) with deletions in the parkin gene.

Mode of inheritance and susceptibility locus for restless legs syndrome, on chromosome 12q.

Role of parkin mutations in 111 community-based patients with early-onset parkinsonism.

Role of SCA2 mutations in early- and late-onset dopa-responsive parkinsonism.

Evidence that paternal expression of the epsilon-sarcoglycan gene accounts for reduced penetrance in myoclonus-dystonia.

Frequency of parkin mutations in late-onset Parkinson's disease.

NR4A2 mutations are rare among European patients with familial Parkinson's disease.

The R98Q variation in DJ-1 represents a rare polymorphism.

Clinical and genetic features of myoclonus-dystonia in 3 cases: a video presentation.

Progressive supranuclear palsy: new disease or variant of postencephalitic parkinsonism?

Distribution, type, and origin of Parkin mutations: review and case studies.

Brain parenchyma sonography detects preclinical parkinsonism.

A marker for the end of adolescence.

Alpha-synuclein and Parkinson's disease: implications from the screening of more than 1,900 patients.

Premutations in the FMR1 gene as a modifying factor in Parkin-associated Parkinson's disease?

PINK1, Parkin, and DJ-1 mutations in Italian patients with early-onset parkinsonism.

Lewy body Parkinson's disease in a large pedigree with 77 Parkin mutation carriers.

Co-occurrence of restless legs syndrome and Parkin mutations in two families.

Restless legs syndrome: epidemiological and clinicogenetic study in a South Tyrolean population isolate.

Heterozygous PINK1 mutations: a susceptibility factor for Parkinson disease?

Recurrent LRRK2 (Park8) mutations in early-onset Parkinson's disease.

Influence of heterozygosity for parkin mutation on onset age in familial Parkinson disease: the GenePD study.

Linkage analysis identifies a novel locus for restless legs syndrome on chromosome 2q in a South Tyrolean population isolate.

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

Genetic structure in contemporary south Tyrolean isolated populations revealed by analysis of Y-chromosome, mtDNA, and Alu polymorphisms.

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

The genetic study of three population microisolates in South Tyrol (MICROS): study design and epidemiological perspectives.

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

Rapid and reliable detection of exon rearrangements in various movement disorders genes by multiplex ligation-dependent probe amplification.

New genetic evidence supports isolation and drift in the Ladin communities of the South Tyrolean Alps but not an ancient origin in the Middle East.

PedVizApi: a Java API for the interactive, visual analysis of extended pedigrees.

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

Exclusion of linkage to chromosome 14q in a large South Tyrolean family with Idiopathic Basal Ganglia Calcification (IBGC).

Replication of association between ELAVL4 and Parkinson disease: the GenePD study.

Huntington CAG repeat size does not modify onset age in familial Parkinson's disease: the GenePD study.

Effects of gender and aging on differential autonomic responses to orthostatic maneuvers.

Structural findings in the basal ganglia in genetically determined and idiopathic Parkinson's disease.

The Gly2019Ser mutation in LRRK2 is not fully penetrant in familial Parkinson's disease: the GenePD study.

Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.

Frequency of heterozygous Parkin mutations in healthy subjects: need for careful prospective follow-up examination of mutation carriers.

Common variants at ten loci modulate the QT interval duration in the QTSCD Study.

Genome-wide linkage analysis of serum creatinine in three isolated European populations.

Parkin gene modifies the effect of RLS4 on the age at onset of restless legs syndrome (RLS).

NRXN3 is a novel locus for waist circumference: a genome-wide association study from the CHARGE Consortium.

ATP13A2 variants in early-onset Parkinson's disease patients and controls.

2q37 as a susceptibility locus for idiopathic basal ganglia calcification (IBGC) in a large South Tyrolean family.

Genetic determinants of circulating sphingolipid concentrations in European populations.

Responsiveness to distracting stimuli, though increased in Parkinson's disease, is decreased in asymptomatic PINK1 and Parkin mutation carriers.

Drawing the history of the Hutterite population on a genetic landscape: inference from Y-chromosome and mtDNA genotypes.

A genome-wide association scan of RR and QT interval duration in 3 European genetically isolated populations: the EUROSPAN project.

Modeling of environmental effects in genome-wide association studies identifies SLC2A2 and HP as novel loci influencing serum cholesterol levels.

A meta-analysis of genome-wide data from five European isolates reveals an association of COL22A1, SYT1, and GABRR2 with serum creatinine level.

A global in vivo Drosophila RNAi screen identifies NOT3 as a conserved regulator of heart function.

New loci associated with kidney function and chronic kidney disease.

Imaging movement-related activity in medicated Parkin-associated and sporadic Parkinson's disease.

Structural imaging in the presymptomatic stage of genetically determined parkinsonism.

Genetic structure in contemporary South Tyrolean isolated populations revealed by analysis of Y-chromosome, mtDNA, and Alu polymorphisms. 2006.

Genes predict village of origin in rural Europe.

Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis.

Copy number variation and association over T-cell receptor genes--influence of DNA source.

Variation in the uric acid transporter gene SLC2A9 and its association with AAO of Parkinson's disease.

Nonmotor symptoms in Parkin gene-related parkinsonism.

Genome-wide association analysis identifies multiple loci related to resting heart rate.

Biological, clinical and population relevance of 95 loci for blood lipids.

Impaired sense of smell and color discrimination in monogenic and idiopathic Parkinson's disease.

Hundreds of variants clustered in genomic loci and biological pathways affect human height.

Heritability analysis of life span in a semi-isolated population followed across four centuries reveals the presence of pleiotropy between life span and reproduction.

Mutant Parkin impairs mitochondrial function and morphology in human fibroblasts.

Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution.

Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.

Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction.

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

Identification of a common variant in the TFR2 gene implicated in the physiological regulation of serum iron levels.

Genome-wide association analysis and fine mapping of NT-proBNP level provide novel insight into the role of the MTHFR-CLCN6-NPPA-NPPB gene cluster.

Meta-analysis of genome-wide association studies in >80 000 subjects identifies multiple loci for C-reactive protein levels.

CUBN is a gene locus for albuminuria.

Mutations in PINK1 and Parkin impair ubiquitination of Mitofusins in human fibroblasts.

Genetic architecture of circulating lipid levels.

Linkage and association analysis of hyperthyrotropinaemia in an Alpine population reveal two novel loci on chromosomes 3q28-29 and 6q26-27.

Variants in STAT5B associate with serum TC and LDL-C levels.

Copy number variation across European populations.

Characterisation of genome-wide association epistasis signals for serum uric acid in human population isolates.

Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.

A genome-wide screen for interactions reveals a new locus on 4p15 modifying the effect of waist-to-hip ratio on total cholesterol.

New gene functions in megakaryopoiesis and platelet formation.

GWAtoolbox: an R package for fast quality control and handling of genome-wide association studies meta-analysis data.

A genome-wide association search for type 2 diabetes genes in African Americans.

Genome-wide analysis of epistasis in body mass index using multiple human populations.

Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.

Methods for meta-analyses of genome-wide association studies: critical assessment of empirical evidence.

Genome-wide association and functional follow-up reveals new loci for kidney function.

Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals.

Genome-wide association study to identify common variants associated with brachial circumference: a meta-analysis of 14 cohorts.

Genetic adaptation of fatty-acid metabolism: a human-specific haplotype increasing the biosynthesis of long-chain omega-3 and omega-6 fatty acids.

A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.

Stratifying type 2 diabetes cases by BMI identifies genetic risk variants in LAMA1 and enrichment for risk variants in lean compared to obese cases.

Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease.

Large-scale replication and heterogeneity in Parkinson disease genetic loci.

Evidence of inbreeding depression on human height.

Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways.

Integration of genome-wide association studies with biological knowledge identifies six novel genes related to kidney function.

FTO genotype is associated with phenotypic variability of body mass index.

Discovery and fine mapping of serum protein loci through transethnic meta-analysis.

Fine-mapping of restless legs locus 4 (RLS4) identifies a haplotype over the SPATS2L and KCTD18 genes.

Localising loci underlying complex trait variation using Regional Genomic Relationship Mapping.

A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants.

Exome sequencing in a family with restless legs syndrome.

Plasma phosphatidylcholine and sphingomyelin concentrations are associated with depression and anxiety symptoms in a Dutch family-based lipidomics study.

Seventy-five genetic loci influencing the human red blood cell.

Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.

SNP prioritization using a Bayesian probability of association.

Importance of different types of prior knowledge in selecting genome-wide findings for follow-up.

A meta-analysis of thyroid-related traits reveals novel Loci and gender-specific differences in the regulation of thyroid function.

Involvement of proprotein convertase PCSK7 in the regulation of systemic iron homeostasis.

Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.

Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders.

Update on the management of restless legs syndrome: existing and emerging treatment options.

Serum iron levels and the risk of Parkinson disease: a Mendelian randomization study.

Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits.

Estimating the glomerular filtration rate in the general population using different equations: effects on classification and association.

Common variants in Mendelian kidney disease genes and their association with renal function.

Common variants associated with plasma triglycerides and risk for coronary artery disease.

Discovery and refinement of loci associated with lipid levels.

Profiling of Parkin-binding partners using tandem affinity purification.

Genetic determinants of heel bone properties: genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium.

The prevalence of metabolic syndrome and metabolically healthy obesity in Europe: a collaborative analysis of ten large cohort studies.

Association between restless legs syndrome and migraine: a population-based study.

Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.

SNP-based linkage analysis in extended pedigrees: comparison between two alternative approaches.

Meta-analysis of genome-wide association studies identifies two loci associated with circulating osteoprotegerin levels.

Defining the role of common variation in the genomic and biological architecture of adult human height.

Identification of a set of endogenous reference genes for miRNA expression studies in Parkinson's disease blood samples.

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

The arachidonic acid metabolome serves as a conserved regulator of cholesterol metabolism.

Overexpression of blood microRNAs 103a, 30b, and 29a in L-dopa-treated patients with PD.

Haplotype analysis of the 4p16.3 region in Portuguese families with Huntington's disease.

New genetic loci link adipose and insulin biology to body fat distribution.

Genetic studies of body mass index yield new insights for obesity biology.

Modulation of genetic associations with serum urate levels by body-mass-index in humans.

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