Peter P. Pramstaller

Center for Biomedicine, European Academy Bozen/Bolzano (EURAC)

Affiliated withEuropean Academy Bozen/Bolzano (EURAC)

Research Area

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JoVE Journal Publications

ArticleTotal : 1	Year
Publication title Cited by 26	2015

Other Publications

Article	Year
Intracortical inhibition is reduced in a patient with a lesion in the posterolateral thalamus. Movement disorders : official journal of the Movement Disorder Society\| PubMed ID: 11835469	2002
The pathology of the spinal cord in progressive supranuclear palsy. Journal of neuropathology and experimental neurology\| PubMed ID: 11895041	2002
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. Neuroscience letters\| PubMed ID: 11911988	2002
PARK3 influences age at onset in Parkinson disease: a genome scan in the GenePD study. American journal of human genetics\| PubMed ID: 11920285	2002
Phenotypic variability in a large kindred (Family LA) with deletions in the parkin gene. Movement disorders : official journal of the Movement Disorder Society\| PubMed ID: 11921141	2002
Mode of inheritance and susceptibility locus for restless legs syndrome, on chromosome 12q. American journal of human genetics\| PubMed ID: 12068378	2002
Role of parkin mutations in 111 community-based patients with early-onset parkinsonism. Annals of neurology\| PubMed ID: 12112109	2002
Role of SCA2 mutations in early- and late-onset dopa-responsive parkinsonism. Annals of neurology\| PubMed ID: 12210804	2002
Evidence that paternal expression of the epsilon-sarcoglycan gene accounts for reduced penetrance in myoclonus-dystonia. American journal of human genetics\| PubMed ID: 12444570	2002
Frequency of parkin mutations in late-onset Parkinson's disease. Annals of neurology\| PubMed ID: 12953277	2003
NR4A2 mutations are rare among European patients with familial Parkinson's disease. Annals of neurology\| PubMed ID: 12953278	2003
The R98Q variation in DJ-1 represents a rare polymorphism. Annals of neurology\| PubMed ID: 14705128	2004
Clinical and genetic features of myoclonus-dystonia in 3 cases: a video presentation. Movement disorders : official journal of the Movement Disorder Society\| PubMed ID: 14978685	2004
Progressive supranuclear palsy: new disease or variant of postencephalitic parkinsonism? Movement disorders : official journal of the Movement Disorder Society\| PubMed ID: 15022178	2004
Distribution, type, and origin of Parkin mutations: review and case studies. Movement disorders : official journal of the Movement Disorder Society\| PubMed ID: 15390068	2004
Brain parenchyma sonography detects preclinical parkinsonism. Movement disorders : official journal of the Movement Disorder Society\| PubMed ID: 15390070	2004
A marker for the end of adolescence. Current biology : CB\| PubMed ID: 15620633	2004
Alpha-synuclein and Parkinson's disease: implications from the screening of more than 1,900 patients. Movement disorders : official journal of the Movement Disorder Society\| PubMed ID: 15895422	2005
Premutations in the FMR1 gene as a modifying factor in Parkin-associated Parkinson's disease? Movement disorders : official journal of the Movement Disorder Society\| PubMed ID: 15929093	2005
PINK1, Parkin, and DJ-1 mutations in Italian patients with early-onset parkinsonism. European journal of human genetics : EJHG\| PubMed ID: 15970950	2005
Lewy body Parkinson's disease in a large pedigree with 77 Parkin mutation carriers. Annals of neurology\| PubMed ID: 16130111	2005
Co-occurrence of restless legs syndrome and Parkin mutations in two families. Movement disorders : official journal of the Movement Disorder Society\| PubMed ID: 16161156	2006
Restless legs syndrome: epidemiological and clinicogenetic study in a South Tyrolean population isolate. Movement disorders : official journal of the Movement Disorder Society\| PubMed ID: 16685686	2006
Heterozygous PINK1 mutations: a susceptibility factor for Parkinson disease? Movement disorders : official journal of the Movement Disorder Society\| PubMed ID: 16755580	2006
Recurrent LRRK2 (Park8) mutations in early-onset Parkinson's disease. Movement disorders : official journal of the Movement Disorder Society\| PubMed ID: 16758483	2006
Influence of heterozygosity for parkin mutation on onset age in familial Parkinson disease: the GenePD study. Archives of neurology\| PubMed ID: 16769863	2006
Linkage analysis identifies a novel locus for restless legs syndrome on chromosome 2q in a South Tyrolean population isolate. American journal of human genetics\| PubMed ID: 16960808	2006
Family-based association study of the restless legs syndrome loci 2 and 3 in a European population. Movement disorders : official journal of the Movement Disorder Society\| PubMed ID: 17133505	2007
Genetic structure in contemporary south Tyrolean isolated populations revealed by analysis of Y-chromosome, mtDNA, and Alu polymorphisms. Human biology\| PubMed ID: 17278620	2006
Clinical trials in restless legs syndrome--recommendations of the European RLS Study Group (EURLSSG). Movement disorders : official journal of the Movement Disorder Society\| PubMed ID: 17530666	2007
The genetic study of three population microisolates in South Tyrol (MICROS): study design and epidemiological perspectives. BMC medical genetics\| PubMed ID: 17550581	2007
Genetics of restless legs syndrome (RLS): State-of-the-art and future directions. Movement disorders : official journal of the Movement Disorder Society\| PubMed ID: 17557342	2007
Rapid and reliable detection of exon rearrangements in various movement disorders genes by multiplex ligation-dependent probe amplification. Movement disorders : official journal of the Movement Disorder Society\| PubMed ID: 17674414	2007
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. European journal of human genetics : EJHG\| PubMed ID: 17712356	2008
PedVizApi: a Java API for the interactive, visual analysis of extended pedigrees. Bioinformatics (Oxford, England)\| PubMed ID: 18033791	2008
Suggestive evidence for linkage for restless legs syndrome on chromosome 19p13. Neurogenetics\| PubMed ID: 18193462	2008
Exclusion of linkage to chromosome 14q in a large South Tyrolean family with Idiopathic Basal Ganglia Calcification (IBGC). American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics\| PubMed ID: 18361429	2008
Replication of association between ELAVL4 and Parkinson disease: the GenePD study. Human genetics\| PubMed ID: 18587682	2008
Huntington CAG repeat size does not modify onset age in familial Parkinson's disease: the GenePD study. Movement disorders : official journal of the Movement Disorder Society\| PubMed ID: 18649400	2008
Effects of gender and aging on differential autonomic responses to orthostatic maneuvers. Journal of cardiovascular electrophysiology\| PubMed ID: 18662181	2008
Structural findings in the basal ganglia in genetically determined and idiopathic Parkinson's disease. Movement disorders : official journal of the Movement Disorder Society\| PubMed ID: 18823048	2009
The Gly2019Ser mutation in LRRK2 is not fully penetrant in familial Parkinson's disease: the GenePD study. BMC medicine\| PubMed ID: 18986508	2008
Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts. Nature genetics\| PubMed ID: 19060911	2009
Frequency of heterozygous Parkin mutations in healthy subjects: need for careful prospective follow-up examination of mutation carriers. Parkinsonism & related disorders\| PubMed ID: 19162522	2009
Common variants at ten loci modulate the QT interval duration in the QTSCD Study. Nature genetics\| PubMed ID: 19305409	2009
Genome-wide linkage analysis of serum creatinine in three isolated European populations. Kidney international\| PubMed ID: 19387472	2009
Parkin gene modifies the effect of RLS4 on the age at onset of restless legs syndrome (RLS). American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics\| PubMed ID: 19526454	2010
NRXN3 is a novel locus for waist circumference: a genome-wide association study from the CHARGE Consortium. PLoS genetics\| PubMed ID: 19557197	2009
ATP13A2 variants in early-onset Parkinson's disease patients and controls. Movement disorders : official journal of the Movement Disorder Society\| PubMed ID: 19705361	2009
2q37 as a susceptibility locus for idiopathic basal ganglia calcification (IBGC) in a large South Tyrolean family. Journal of molecular neuroscience : MN\| PubMed ID: 19757205	2009
Genetic determinants of circulating sphingolipid concentrations in European populations. PLoS genetics\| PubMed ID: 19798445	2009
Responsiveness to distracting stimuli, though increased in Parkinson's disease, is decreased in asymptomatic PINK1 and Parkin mutation carriers. Neuropsychologia\| PubMed ID: 19822161	2010
Drawing the history of the Hutterite population on a genetic landscape: inference from Y-chromosome and mtDNA genotypes. European journal of human genetics : EJHG\| PubMed ID: 19844259	2010
A genome-wide association scan of RR and QT interval duration in 3 European genetically isolated populations: the EUROSPAN project. Circulation. Cardiovascular genetics\| PubMed ID: 20031603	2009
Modeling of environmental effects in genome-wide association studies identifies SLC2A2 and HP as novel loci influencing serum cholesterol levels. PLoS genetics\| PubMed ID: 20066028	2010
A meta-analysis of genome-wide data from five European isolates reveals an association of COL22A1, SYT1, and GABRR2 with serum creatinine level. BMC medical genetics\| PubMed ID: 20222955	2010
A global in vivo Drosophila RNAi screen identifies NOT3 as a conserved regulator of heart function. Cell\| PubMed ID: 20371351	2010
New loci associated with kidney function and chronic kidney disease. Nature genetics\| PubMed ID: 20383146	2010
Imaging movement-related activity in medicated Parkin-associated and sporadic Parkinson's disease. Parkinsonism & related disorders\| PubMed ID: 20434937	2010
Structural imaging in the presymptomatic stage of genetically determined parkinsonism. Neurobiology of disease\| PubMed ID: 20483373	2010
Genetic structure in contemporary South Tyrolean isolated populations revealed by analysis of Y-chromosome, mtDNA, and Alu polymorphisms. 2006. Human biology\| PubMed ID: 20504204	2009
Genes predict village of origin in rural Europe. European journal of human genetics : EJHG\| PubMed ID: 20571506	2010
Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis. Nature genetics\| PubMed ID: 20581827	2010
Copy number variation and association over T-cell receptor genes--influence of DNA source. Immunogenetics\| PubMed ID: 20582410	2010
Variation in the uric acid transporter gene SLC2A9 and its association with AAO of Parkinson's disease. Journal of molecular neuroscience : MN\| PubMed ID: 20589538	2011
Nonmotor symptoms in Parkin gene-related parkinsonism. Movement disorders : official journal of the Movement Disorder Society\| PubMed ID: 20629119	2010
Genome-wide association analysis identifies multiple loci related to resting heart rate. Human molecular genetics\| PubMed ID: 20639392	2010
Biological, clinical and population relevance of 95 loci for blood lipids. Nature\| PubMed ID: 20686565	2010
Impaired sense of smell and color discrimination in monogenic and idiopathic Parkinson's disease. Movement disorders : official journal of the Movement Disorder Society\| PubMed ID: 20721915	2010
Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature\| PubMed ID: 20881960	2010
Heritability analysis of life span in a semi-isolated population followed across four centuries reveals the presence of pleiotropy between life span and reproduction. The journals of gerontology. Series A, Biological sciences and medical sciences\| PubMed ID: 20884848	2011
Mutant Parkin impairs mitochondrial function and morphology in human fibroblasts. PloS one\| PubMed ID: 20885945	2010
Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution. Nature genetics\| PubMed ID: 20935629	2010
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. Nature genetics\| PubMed ID: 20935630	2010
Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction. Nature genetics\| PubMed ID: 21076409	2010
Novel association to the proprotein convertase PCSK7 gene locus revealed by analysing soluble transferrin receptor (sTfR) levels. Human molecular genetics\| PubMed ID: 21149283	2011
Identification of a common variant in the TFR2 gene implicated in the physiological regulation of serum iron levels. Human molecular genetics\| PubMed ID: 21208937	2011
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. Human molecular genetics\| PubMed ID: 21273288	2011
Meta-analysis of genome-wide association studies in >80 000 subjects identifies multiple loci for C-reactive protein levels. Circulation\| PubMed ID: 21300955	2011
CUBN is a gene locus for albuminuria. Journal of the American Society of Nephrology : JASN\| PubMed ID: 21355061	2011
Mutations in PINK1 and Parkin impair ubiquitination of Mitofusins in human fibroblasts. PloS one\| PubMed ID: 21408142	2011
Genetic architecture of circulating lipid levels. European journal of human genetics : EJHG\| PubMed ID: 21448234	2011
Linkage and association analysis of hyperthyrotropinaemia in an Alpine population reveal two novel loci on chromosomes 3q28-29 and 6q26-27. Journal of medical genetics\| PubMed ID: 21690246	2011
Variants in STAT5B associate with serum TC and LDL-C levels. The Journal of clinical endocrinology and metabolism\| PubMed ID: 21752895	2011
Copy number variation across European populations. PloS one\| PubMed ID: 21829696	2011
Characterisation of genome-wide association epistasis signals for serum uric acid in human population isolates. PloS one\| PubMed ID: 21886828	2011
Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. Nature\| PubMed ID: 21909115	2011
A genome-wide screen for interactions reveals a new locus on 4p15 modifying the effect of waist-to-hip ratio on total cholesterol. PLoS genetics\| PubMed ID: 22028671	2011
New gene functions in megakaryopoiesis and platelet formation. Nature\| PubMed ID: 22139419	2011
GWAtoolbox: an R package for fast quality control and handling of genome-wide association studies meta-analysis data. Bioinformatics (Oxford, England)\| PubMed ID: 22155946	2012
A genome-wide association search for type 2 diabetes genes in African Americans. PloS one\| PubMed ID: 22238593	2012
Genome-wide analysis of epistasis in body mass index using multiple human populations. European journal of human genetics : EJHG\| PubMed ID: 22333899	2012
Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations. PLoS genetics\| PubMed ID: 22359512	2012
Methods for meta-analyses of genome-wide association studies: critical assessment of empirical evidence. American journal of epidemiology\| PubMed ID: 22427610	2012
Genome-wide association and functional follow-up reveals new loci for kidney function. PLoS genetics\| PubMed ID: 22479191	2012
Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals. PLoS genetics\| PubMed ID: 22479202	2012
Genome-wide association study to identify common variants associated with brachial circumference: a meta-analysis of 14 cohorts. PloS one\| PubMed ID: 22479309	2012
Genetic adaptation of fatty-acid metabolism: a human-specific haplotype increasing the biosynthesis of long-chain omega-3 and omega-6 fatty acids. American journal of human genetics\| PubMed ID: 22503634	2012
A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance. Nature genetics\| PubMed ID: 22581228	2012
Stratifying type 2 diabetes cases by BMI identifies genetic risk variants in LAMA1 and enrichment for risk variants in lean compared to obese cases. PLoS genetics\| PubMed ID: 22693455	2012
Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease. American journal of human genetics\| PubMed ID: 22703881	2012
Large-scale replication and heterogeneity in Parkinson disease genetic loci. Neurology\| PubMed ID: 22786590	2012
Evidence of inbreeding depression on human height. PLoS genetics\| PubMed ID: 22829771	2012
Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways. Nature genetics\| PubMed ID: 22885924	2012
Integration of genome-wide association studies with biological knowledge identifies six novel genes related to kidney function. Human molecular genetics\| PubMed ID: 22962313	2012
FTO genotype is associated with phenotypic variability of body mass index. Nature\| PubMed ID: 22982992	2012
Discovery and fine mapping of serum protein loci through transethnic meta-analysis. American journal of human genetics\| PubMed ID: 23022100	2012
Fine-mapping of restless legs locus 4 (RLS4) identifies a haplotype over the SPATS2L and KCTD18 genes. Journal of molecular neuroscience : MN\| PubMed ID: 23054586	2013
Localising loci underlying complex trait variation using Regional Genomic Relationship Mapping. PloS one\| PubMed ID: 23077511	2012
A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants. Journal of medical genetics\| PubMed ID: 23125461	2012
Exome sequencing in a family with restless legs syndrome. Movement disorders : official journal of the Movement Disorder Society\| PubMed ID: 23192925	2012
Plasma phosphatidylcholine and sphingomyelin concentrations are associated with depression and anxiety symptoms in a Dutch family-based lipidomics study. Journal of psychiatric research\| PubMed ID: 23207112	2013
Seventy-five genetic loci influencing the human red blood cell. Nature\| PubMed ID: 23222517	2012
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. Nature genetics\| PubMed ID: 23263486	2012
SNP prioritization using a Bayesian probability of association. Genetic epidemiology\| PubMed ID: 23280596	2013
Importance of different types of prior knowledge in selecting genome-wide findings for follow-up. Genetic epidemiology\| PubMed ID: 23307621	2013
A meta-analysis of thyroid-related traits reveals novel Loci and gender-specific differences in the regulation of thyroid function. PLoS genetics\| PubMed ID: 23408906	2013
Involvement of proprotein convertase PCSK7 in the regulation of systemic iron homeostasis. Hepatology (Baltimore, Md.)\| PubMed ID: 23504908	2013
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. Nature genetics\| PubMed ID: 23563607	2013
Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders. Nature genetics\| PubMed ID: 23583979	2013
Update on the management of restless legs syndrome: existing and emerging treatment options. Nature and science of sleep\| PubMed ID: 23616710	2010
Serum iron levels and the risk of Parkinson disease: a Mendelian randomization study. PLoS medicine\| PubMed ID: 23750121	2013
Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits. PLoS genetics\| PubMed ID: 23754948	2013
Estimating the glomerular filtration rate in the general population using different equations: effects on classification and association. Nephron. Clinical practice\| PubMed ID: 23797027	2013
Common variants in Mendelian kidney disease genes and their association with renal function. Journal of the American Society of Nephrology : JASN\| PubMed ID: 24029420	2013
Common variants associated with plasma triglycerides and risk for coronary artery disease. Nature genetics\| PubMed ID: 24097064	2013
Discovery and refinement of loci associated with lipid levels. Nature genetics\| PubMed ID: 24097068	2013
Profiling of Parkin-binding partners using tandem affinity purification. PloS one\| PubMed ID: 24244333	2013
Genetic determinants of heel bone properties: genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium. Human molecular genetics\| PubMed ID: 24430505	2014
The prevalence of metabolic syndrome and metabolically healthy obesity in Europe: a collaborative analysis of ten large cohort studies. BMC endocrine disorders\| PubMed ID: 24484869	2014
Association between restless legs syndrome and migraine: a population-based study. European journal of neurology : the official journal of the European Federation of Neurological Societies\| PubMed ID: 24840006	2014
Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization. Nature genetics\| PubMed ID: 24952745	2014
SNP-based linkage analysis in extended pedigrees: comparison between two alternative approaches. Human heredity\| PubMed ID: 24969533	2014
Meta-analysis of genome-wide association studies identifies two loci associated with circulating osteoprotegerin levels. Human molecular genetics\| PubMed ID: 25080503	2014
Defining the role of common variation in the genomic and biological architecture of adult human height. Nature genetics\| PubMed ID: 25282103	2014
Identification of a set of endogenous reference genes for miRNA expression studies in Parkinson's disease blood samples. BMC research notes\| PubMed ID: 25304816	2014
Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis. Nature communications\| PubMed ID: 25352340	2014
The arachidonic acid metabolome serves as a conserved regulator of cholesterol metabolism. Cell metabolism\| PubMed ID: 25444678	2014
Overexpression of blood microRNAs 103a, 30b, and 29a in L-dopa-treated patients with PD. Neurology\| PubMed ID: 25596505	2015
Haplotype analysis of the 4p16.3 region in Portuguese families with Huntington's disease. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics\| PubMed ID: 25656686	2015
New genetic loci link adipose and insulin biology to body fat distribution. Nature\| PubMed ID: 25673412	2015
Genetic studies of body mass index yield new insights for obesity biology. Nature\| PubMed ID: 25673413	2015
Modulation of genetic associations with serum urate levels by body-mass-index in humans. PloS one\| PubMed ID: 25811787	2015
Corrigendum: Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis. Nature communications\| PubMed ID: 25817829	2015