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