Peter P. Pramstaller

Publications

• Corrigendum: Novel Loci Affecting Iron Homeostasis and Their Effects in Individuals at Risk for Hemochromatosis
  Nature Communications. 2015  |   Pubmed ID: 25817829
• Modulation of Genetic Associations with Serum Urate Levels by Body-mass-index in Humans
  PloS One. 2015  |   Pubmed ID: 25811787
• Genetic Studies of Body Mass Index Yield New Insights for Obesity Biology
  Nature. Feb, 2015  |   Pubmed ID: 25673413
• New Genetic Loci Link Adipose and Insulin Biology to Body Fat Distribution
  Nature. Feb, 2015  |   Pubmed ID: 25673412
• 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
• Overexpression of Blood MicroRNAs 103a, 30b, and 29a in L-dopa-treated Patients with PD
  Neurology. Feb, 2015  |   Pubmed ID: 25596505
• The Arachidonic Acid Metabolome Serves As a Conserved Regulator of Cholesterol Metabolism
  Cell Metabolism. Nov, 2014  |   Pubmed ID: 25444678
• Novel Loci Affecting Iron Homeostasis and Their Effects in Individuals at Risk for Hemochromatosis
  Nature Communications. 2014  |   Pubmed ID: 25352340
• 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
• Defining the Role of Common Variation in the Genomic and Biological Architecture of Adult Human Height
  Nature Genetics. Oct, 2014  |   Pubmed ID: 25282103
• Meta-analysis of Genome-wide Association Studies Identifies Two Loci Associated with Circulating Osteoprotegerin Levels
  Human Molecular Genetics. Dec, 2014  |   Pubmed ID: 25080503
• SNP-based Linkage Analysis in Extended Pedigrees: Comparison Between Two Alternative Approaches
  Human Heredity. 2014  |   Pubmed ID: 24969533
• Genetic Association Study of QT Interval Highlights Role for Calcium Signaling Pathways in Myocardial Repolarization
  Nature Genetics. Aug, 2014  |   Pubmed ID: 24952745
• 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
• 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
• 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
• Profiling of Parkin-binding Partners Using Tandem Affinity Purification
  PloS One. 2013  |   Pubmed ID: 24244333
• Discovery and Refinement of Loci Associated with Lipid Levels
  Nature Genetics. Nov, 2013  |   Pubmed ID: 24097068
• Common Variants Associated with Plasma Triglycerides and Risk for Coronary Artery Disease
  Nature Genetics. Oct, 2013  |   Pubmed ID: 24097064
• 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
• Estimating the Glomerular Filtration Rate in the General Population Using Different Equations: Effects on Classification and Association
  Nephron. Clinical Practice. 2013  |   Pubmed ID: 23797027
• 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
• Serum Iron Levels and the Risk of Parkinson Disease: a Mendelian Randomization Study
  PLoS Medicine. 2013  |   Pubmed ID: 23750121
• Identification of Heart Rate-associated Loci and Their Effects on Cardiac Conduction and Rhythm Disorders
  Nature Genetics. Apr, 2013  |   Pubmed ID: 23583979
• Genome-wide Meta-analysis Identifies 11 New Loci for Anthropometric Traits and Provides Insights into Genetic Architecture
  Nature Genetics. Apr, 2013  |   Pubmed ID: 23563607
• Involvement of Proprotein Convertase PCSK7 in the Regulation of Systemic Iron Homeostasis
  Hepatology (Baltimore, Md.). Nov, 2013  |   Pubmed ID: 23504908
• 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
• Importance of Different Types of Prior Knowledge in Selecting Genome-wide Findings for Follow-up
  Genetic Epidemiology. Feb, 2013  |   Pubmed ID: 23307621
• SNP Prioritization Using a Bayesian Probability of Association
  Genetic Epidemiology. Feb, 2013  |   Pubmed ID: 23280596
• 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
• 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
• Genome-wide Association Analyses Identify 18 New Loci Associated with Serum Urate Concentrations
  Nature Genetics. Dec, 2012  |   Pubmed ID: 23263486
• Seventy-five Genetic Loci Influencing the Human Red Blood Cell
  Nature. Dec, 2012  |   Pubmed ID: 23222517
• Exome Sequencing in a Family with Restless Legs Syndrome
  Movement Disorders : Official Journal of the Movement Disorder Society. Nov, 2012  |   Pubmed ID: 23192925
• 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
• Localising Loci Underlying Complex Trait Variation Using Regional Genomic Relationship Mapping
  PloS One. 2012  |   Pubmed ID: 23077511
• Discovery and Fine Mapping of Serum Protein Loci Through Transethnic Meta-analysis
  American Journal of Human Genetics. Oct, 2012  |   Pubmed ID: 23022100
• FTO Genotype is Associated with Phenotypic Variability of Body Mass Index
  Nature. Sep, 2012  |   Pubmed ID: 22982992
• 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
• 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
• Evidence of Inbreeding Depression on Human Height
  PLoS Genetics. 2012  |   Pubmed ID: 22829771
• Large-scale Replication and Heterogeneity in Parkinson Disease Genetic Loci
  Neurology. Aug, 2012  |   Pubmed ID: 22786590
• 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
• 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
• 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
• 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
• Genome-wide Association Study to Identify Common Variants Associated with Brachial Circumference: a Meta-analysis of 14 Cohorts
  PloS One. 2012  |   Pubmed ID: 22479309
• 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 and Functional Follow-up Reveals New Loci for Kidney Function
  PLoS Genetics. 2012  |   Pubmed ID: 22479191
• 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 Study Identifies Novel Loci Associated with Circulating Phospho- and Sphingolipid Concentrations
  PLoS Genetics. 2012  |   Pubmed ID: 22359512
• Genome-wide Analysis of Epistasis in Body Mass Index Using Multiple Human Populations
  European Journal of Human Genetics : EJHG. Aug, 2012  |   Pubmed ID: 22333899
• A Genome-wide Association Search for Type 2 Diabetes Genes in African Americans
  PloS One. 2012  |   Pubmed ID: 22238593
• 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
• New Gene Functions in Megakaryopoiesis and Platelet Formation
  Nature. Dec, 2011  |   Pubmed ID: 22139419
• 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
• Genetic Variants in Novel Pathways Influence Blood Pressure and Cardiovascular Disease Risk
  Nature. Oct, 2011  |   Pubmed ID: 21909115
• Characterisation of Genome-wide Association Epistasis Signals for Serum Uric Acid in Human Population Isolates
  PloS One. 2011  |   Pubmed ID: 21886828
• Copy Number Variation Across European Populations
  PloS One. 2011  |   Pubmed ID: 21829696
• Variants in STAT5B Associate with Serum TC and LDL-C Levels
  The Journal of Clinical Endocrinology and Metabolism. Sep, 2011  |   Pubmed ID: 21752895
• 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
• Genetic Architecture of Circulating Lipid Levels
  European Journal of Human Genetics : EJHG. Jul, 2011  |   Pubmed ID: 21448234
• Mutations in PINK1 and Parkin Impair Ubiquitination of Mitofusins in Human Fibroblasts
  PloS One. 2011  |   Pubmed ID: 21408142
• CUBN is a Gene Locus for Albuminuria
  Journal of the American Society of Nephrology : JASN. Mar, 2011  |   Pubmed ID: 21355061
• 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
• 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
• 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
• 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
• 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
• 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
• Update on the Management of Restless Legs Syndrome: Existing and Emerging Treatment Options
  Nature and Science of Sleep. 2010  |   Pubmed ID: 23616710
• Common Variants in 22 Loci Are Associated with QRS Duration and Cardiac Ventricular Conduction
  Nature Genetics. Dec, 2010  |   Pubmed ID: 21076409
• Association Analyses of 249,796 Individuals Reveal 18 New Loci Associated with Body Mass Index
  Nature Genetics. Nov, 2010  |   Pubmed ID: 20935630
• 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
• Mutant Parkin Impairs Mitochondrial Function and Morphology in Human Fibroblasts
  PloS One. 2010  |   Pubmed ID: 20885945
• Hundreds of Variants Clustered in Genomic Loci and Biological Pathways Affect Human Height
  Nature. Oct, 2010  |   Pubmed ID: 20881960
• 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
• Biological, Clinical and Population Relevance of 95 Loci for Blood Lipids
  Nature. Aug, 2010  |   Pubmed ID: 20686565
• Genome-wide Association Analysis Identifies Multiple Loci Related to Resting Heart Rate
  Human Molecular Genetics. Oct, 2010  |   Pubmed ID: 20639392
• Nonmotor Symptoms in Parkin Gene-related Parkinsonism
  Movement Disorders : Official Journal of the Movement Disorder Society. Jul, 2010  |   Pubmed ID: 20629119
• Copy Number Variation and Association over T-cell Receptor Genes--influence of DNA Source
  Immunogenetics. Aug, 2010  |   Pubmed ID: 20582410
• Twelve Type 2 Diabetes Susceptibility Loci Identified Through Large-scale Association Analysis
  Nature Genetics. Jul, 2010  |   Pubmed ID: 20581827
• Genes Predict Village of Origin in Rural Europe
  European Journal of Human Genetics : EJHG. Nov, 2010  |   Pubmed ID: 20571506
• Structural Imaging in the Presymptomatic Stage of Genetically Determined Parkinsonism
  Neurobiology of Disease. Sep, 2010  |   Pubmed ID: 20483373
• Imaging Movement-related Activity in Medicated Parkin-associated and Sporadic Parkinson's Disease
  Parkinsonism & Related Disorders. Jul, 2010  |   Pubmed ID: 20434937
• New Loci Associated with Kidney Function and Chronic Kidney Disease
  Nature Genetics. May, 2010  |   Pubmed ID: 20383146
• A Global in Vivo Drosophila RNAi Screen Identifies NOT3 As a Conserved Regulator of Heart Function
  Cell. Apr, 2010  |   Pubmed ID: 20371351
• 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
• 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
• 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
• 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
• 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
• 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
• 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
• Genetic Determinants of Circulating Sphingolipid Concentrations in European Populations
  PLoS Genetics. Oct, 2009  |   Pubmed ID: 19798445
• 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
• 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
• NRXN3 is a Novel Locus for Waist Circumference: a Genome-wide Association Study from the CHARGE Consortium
  PLoS Genetics. Jun, 2009  |   Pubmed ID: 19557197
• Genome-wide Linkage Analysis of Serum Creatinine in Three Isolated European Populations
  Kidney International. Aug, 2009  |   Pubmed ID: 19387472
• Common Variants at Ten Loci Modulate the QT Interval Duration in the QTSCD Study
  Nature Genetics. Apr, 2009  |   Pubmed ID: 19305409
• 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
• Loci Influencing Lipid Levels and Coronary Heart Disease Risk in 16 European Population Cohorts
  Nature Genetics. Jan, 2009  |   Pubmed ID: 19060911
• 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
• Effects of Gender and Aging on Differential Autonomic Responses to Orthostatic Maneuvers
  Journal of Cardiovascular Electrophysiology. Dec, 2008  |   Pubmed ID: 18662181
• 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
• Replication of Association Between ELAVL4 and Parkinson Disease: the GenePD Study
  Human Genetics. Aug, 2008  |   Pubmed ID: 18587682
• 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
• Suggestive Evidence for Linkage for Restless Legs Syndrome on Chromosome 19p13
  Neurogenetics. May, 2008  |   Pubmed ID: 18193462
• PedVizApi: a Java API for the Interactive, Visual Analysis of Extended Pedigrees
  Bioinformatics (Oxford, England). Jan, 2008  |   Pubmed ID: 18033791
• 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
• 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
• 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
• The Genetic Study of Three Population Microisolates in South Tyrol (MICROS): Study Design and Epidemiological Perspectives
  BMC Medical Genetics. 2007  |   Pubmed ID: 17550581
• 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
• 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
• 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
• Influence of Heterozygosity for Parkin Mutation on Onset Age in Familial Parkinson Disease: the GenePD Study
  Archives of Neurology. Jun, 2006  |   Pubmed ID: 16769863
• Recurrent LRRK2 (Park8) Mutations in Early-onset Parkinson's Disease
  Movement Disorders : Official Journal of the Movement Disorder Society. Sep, 2006  |   Pubmed ID: 16758483
• Heterozygous PINK1 Mutations: a Susceptibility Factor for Parkinson Disease?
  Movement Disorders : Official Journal of the Movement Disorder Society. Sep, 2006  |   Pubmed ID: 16755580
• 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
• 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
• Lewy Body Parkinson's Disease in a Large Pedigree with 77 Parkin Mutation Carriers
  Annals of Neurology. Sep, 2005  |   Pubmed ID: 16130111
• PINK1, Parkin, and DJ-1 Mutations in Italian Patients with Early-onset Parkinsonism
  European Journal of Human Genetics : EJHG. Sep, 2005  |   Pubmed ID: 15970950
• 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
• 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
• A Marker for the End of Adolescence
  Current Biology : CB. Dec, 2004  |   Pubmed ID: 15620633
• Brain Parenchyma Sonography Detects Preclinical Parkinsonism
  Movement Disorders : Official Journal of the Movement Disorder Society. Dec, 2004  |   Pubmed ID: 15390070
• 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
• Progressive Supranuclear Palsy: New Disease or Variant of Postencephalitic Parkinsonism?
  Movement Disorders : Official Journal of the Movement Disorder Society. Mar, 2004  |   Pubmed ID: 15022178
• 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
• The R98Q Variation in DJ-1 Represents a Rare Polymorphism
  Annals of Neurology. Jan, 2004  |   Pubmed ID: 14705128
• NR4A2 Mutations Are Rare Among European Patients with Familial Parkinson's Disease
  Annals of Neurology. Sep, 2003  |   Pubmed ID: 12953278
• Frequency of Parkin Mutations in Late-onset Parkinson's Disease
  Annals of Neurology. Sep, 2003  |   Pubmed ID: 12953277
• 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
• Role of SCA2 Mutations in Early- and Late-onset Dopa-responsive Parkinsonism
  Annals of Neurology. Aug, 2002  |   Pubmed ID: 12210804
• Role of Parkin Mutations in 111 Community-based Patients with Early-onset Parkinsonism
  Annals of Neurology. May, 2002  |   Pubmed ID: 12112109
• Mode of Inheritance and Susceptibility Locus for Restless Legs Syndrome, on Chromosome 12q
  American Journal of Human Genetics. Jul, 2002  |   Pubmed ID: 12068378
• 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
• 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
• 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
• The Pathology of the Spinal Cord in Progressive Supranuclear Palsy
  Journal of Neuropathology and Experimental Neurology. Mar, 2002  |   Pubmed ID: 11895041
• 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