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List of works by Irene Pichler

35th Annual Meeting of the European Association for the Study of Diabetes

article

35th Annual Meeting of the European Association for the Study of Diabetes : Brussels, Belgium, 28 September-2 October 1999

article

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

scientific article

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

scientific article published on 4 January 2012

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

scientific article

A principal component meta-analysis on multiple anthropometric traits identifies novel loci for body shape

scientific article published on 23 November 2016

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

scientific article (publication date: November 2010)

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

scientific article

CLOCK gene variants associate with sleep duration in two independent populations

scientific article

Clear detection of ADIPOQ locus as the major gene for plasma adiponectin: results of genome-wide association analyses including 4659 European individuals

scientific article

Co-occurrence of restless legs syndrome andParkin mutations in two families

scientific article published on 01 February 2006

Common variants in the JAZF1 gene associated with height identified by linkage and genome-wide association analysis

scientific article published on 24 October 2008

Correction: The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study

scientific article

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

scientific article published on 30 March 2015

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

scientific article

Environmental and Genetic Variables Influencing Mitochondrial Health and Parkinson's Disease Penetrance.

scientific article

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

scientific article published in November 2011

Erratum: New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk

scientific article published in May 2010

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

scientific article

Exome sequencing in a family with restless legs syndrome.

scientific article

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

scientific article published on 2 October 2012

Generation of an induced pluripotent stem cell line (EURACi005-A) from a Parkinson's disease patient carrying a homozygous exon 3 deletion in the PRKNgene

scientific article published on 25 October 2019

Generation of hiPSC-Derived Functional Dopaminergic Neurons in Alginate-Based 3D Culture

scientific article published on 02 August 2021

Genetic determinants of circulating sphingolipid concentrations in European populations

scientific article published on 02 October 2009

Genetic evidence of assortative mating in humans

article

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

scientific article

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

scientific article

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

scientific article

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

scientific article

Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure

scientific article

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

scientific article published on 22 April 2009

Genotyping human ancient mtDNA control and coding region polymorphisms with a multiplexed Single-Base-Extension assay: the singular maternal history of the Tyrolean Iceman

scientific article

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

scientific article published on 05 February 2015

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

scientific article

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

scientific article

Intracellular delivery of Parkin-RING0-based fragments corrects Parkin-induced mitochondrial dysfunction through interaction with SLP-2

scientific article published in 2024

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

article published in 2013

Large-scale replication and heterogeneity in Parkinson disease genetic loci

scientific article

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

scientific article

Linkage and genome-wide association analysis of obesity-related phenotypes: association of weight with the MGAT1 gene

scientific article published on 22 October 2009

Linkage disequilibrium patterns and tagSNP transferability among European populations

scientific article

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

scientific article

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

scientific article

Mitochondrial dysfunction in fibroblasts of Multiple System Atrophy

scientific article published on 19 September 2018

New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk

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

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

scientific article

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

scientific article published on 16 January 2015

ParkScreen: a low-cost rapid linkage marker panel for Parkinson's disease

scientific article published on 25 March 2009

Parkin Interacts with Apoptosis-Inducing Factor and Interferes with Its Translocation to the Nucleus in Neuronal Cells ⬇️

scientific article published on 11 February 2019

Parkingene modifies the effect ofRLS4on the age at onset of restless legs syndrome (RLS)

Profiling of Parkin-binding partners using tandem affinity purification

scientific article

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

scholarly article by Florian D. Vogl et al published 2006 in Movement Disorders

SLP-2: a potential new target for improving mitochondrial function in Parkinson's disease

scientific article published in September 2017

Serum iron level and kidney function: a Mendelian randomization study.

scientific article published in February 2017

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

scientific article

The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study

scientific article

The LRRK2 Variant E193K Prevents Mitochondrial Fission Upon MPP+ Treatment by Altering LRRK2 Binding to DRP1.

scientific article published on 28 February 2018

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

scientific article

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

scientific article published on 8 September 2010

Urokinase Plasminogen Activator Receptor (uPAR; CD87) Expression on Monocytic Cells and T Cells is Modulated by HIV-1 Infection ⬇️

scientific article published on July 1, 1998

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