I. Pichler

J. Thompson, J. Whitfield, B. Benyamin, 2016, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

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

Toshiko Tanaka, S. Bandinelli, D. Hernandez, 2011, Human molecular genetics.

Generation of an induced pluripotent stem cell line (EURACi014-A) from a Parkinson's disease patient with an A53T mutation in the SNCA gene by an integration-free reprogramming method.

P. Pramstaller, I. Pichler, Andrew A. Hicks, 2022, Stem cell research.

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

J. Ioannidis, M. Farrer, D. Maraganore, 2012, Journal of Medical Genetics.

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

Christian Gieger, Thomas Meitinger, Mario Falchi, 2009, Nature Genetics.

Crosstalk of organelles in Parkinson’s disease – MiT family transcription factors as central players in signaling pathways connecting mitochondria and lysosomes

P. Pramstaller, I. Pichler, M. Lang, 2022, Molecular Neurodegeneration.

Mitochondrial dysfunction in fibroblasts of Multiple System Atrophy.

M. T. Pellecchia, S. Salani, N. Bresolin, 2018, Biochimica et biophysica acta. Molecular basis of disease.

ParkScreen: A Low-Cost Rapid Linkage Marker Panel for Parkinson’s Disease

P. Pramstaller, A. De Grandi, I. Pichler, 2009, Journal of Molecular Neuroscience.

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

Christian Gieger, Alex Doney, Inês Barroso, 2010, Nature Genetics.

Erratum: New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk (Nature Genetics (2010) 42 (105-116))

Marc S. Orr, P. Elliott, L. Coin, 2010 .

Mitochondrial DNA heteroplasmy distinguishes disease manifestation in PINK1/PRKN-linked Parkinson’s disease

P. May, M. Farrer, A. Lang, 2022, medRxiv.

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

K. Lohmann, P. Pramstaller, A. De Grandi, 2009, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

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

Claude Bouchard, Christian Gieger, Joel Eriksson, 2016, Nature communications.

Task matters - challenging the motor system allows distinguishing unaffected Parkin mutation carriers from mutation-free controls.

N. Brüggemann, A. Hicks, P. Pramstaller, 2021, Parkinsonism & related disorders.

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

Christian Gieger, Thomas Meitinger, Andres Metspalu, 2015, Nature Communications.

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

Thomas Meitinger, Inês Barroso, Peter Kraft, 2010, Nature Genetics.

Exome-wide association study of levodopa-induced dyskinesia in Parkinson’s disease

T. Esposito, F. S. Domingues, H. Blankenburg, 2021, Scientific Reports.

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

Thomas Meitinger, Igor Rudan, Cristian Pattaro, 2009, Kidney international.

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

A. Hicks, P. Pramstaller, I. Pichler, 2013, Hepatology.

Biological, Clinical, and Population Relevance of 95 Loci for Blood Lipids

Tanya M. Teslovich, Y. J. Kim, M. Rieder, 2010, Nature.

Genome-Wide Association Study Identifies Novel Loci Associated with Circulating Phospho- and Sphingolipid Concentrations

Yurii S. Aulchenko, Thomas Meitinger, Ritsert C. Jansen, 2012, PLoS genetics.

Genetic Determinants of Circulating Sphingolipid Concentrations in European Populations

Thomas Meitinger, Gerd Schmitz, Igor Rudan, 2009, PLoS genetics.

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

P. Pramstaller, P. Endicott, I. Pichler, 2009, BMC Genetics.

Genetic evidence of assortative mating in humans

Tanya M. Teslovich, Ross M. Fraser, Brendan P. Zietsch, 2017, Nature Human Behaviour.

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

S. Casarosa, P. Pramstaller, I. Pichler, 2021, Frontiers in Cell and Developmental Biology.

SLP-2 interacts with Parkin in mitochondria and prevents mitochondrial dysfunction in Parkin-deficient human iPSC-derived neurons and Drosophila.

R. Bodmer, A. Hicks, P. Pramstaller, 2017, Human molecular genetics.

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

F. S. Domingues, H. Blankenburg, A. Hicks, 2015, Neurology.

Linkage and Genome‐wide Association Analysis of Obesity‐related Phenotypes: Association of Weight With the MGAT1 Gene

S. Wild, N. Hastie, I. Rudan, 2010, Obesity.

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

Johnny S. H. Kwan, D. Kiel, A. LaCroix, 2014, Human molecular genetics.

Large-scale replication and heterogeneity in Parkinson disease genetic loci

J. Ioannidis, M. Farrer, D. Maraganore, 2012, Neurology.

Linkage disequilibrium patterns and tagSNP transferability among European populations.

Thomas Meitinger, Giovanni Romeo, Andres Metspalu, 2005, American journal of human genetics.

CLOCK Gene Variants Associate with Sleep Duration in Two Independent Populations

T. Meitinger, B. Müller-Myhsok, I. Pichler, 2010, Biological Psychiatry.

Explorer Novel association to the proprotein convertase PCSK 7 gene locus revealed by analysing soluble transferrin receptor ( sTfR ) levels

Toshiko Tanaka, S. Bandinelli, C. Gieger, 2018 .

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

Toshiko Tanaka, S. Bandinelli, C. Gieger, 2011, Human molecular genetics.

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

Toshiko Tanaka, S. Bandinelli, D. Hernandez, 2014, Nature Communications.

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

T. Gillis, J. Mysore, M. MacDonald, 2015, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Genetic Structure in Contemporary South Tyrolean Isolated Populations Revealed by Analysis of Y-Chromosome, mtDNA, and Alu Polymorphisms

T. Meitinger, P. Pramstaller, A. De Grandi, 2009, Human biology.

Genetic Structure in Contemporary South Tyrolean Isolated Populations Revealed by Analysis of Y-Chromosome, mtDNA, and Alu Polymorphisms

T. Meitinger, P. Pramstaller, I. Pichler, 2006 .

Genetic Structure in Contemporary South Tyrolean Isolated Populations Revealed by Analysis of Y-Chromosome, mtDNA, and Alu Polymorphisms

T. Meitinger, P. Pramstaller, A. De Grandi, 2006, Human biology.

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

David M. Evans, Toshiko Tanaka, S. Bandinelli, 2010, Atherosclerosis.

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

Thomas Meitinger, Inês Barroso, Peter Kraft, 2011, Nature Genetics.

Population Isolates in South Tyrol and Their Value for Genetic Dissection of Complex Diseases

I. Pichler, P. Pramstaller, A. De Grandi, 2006, Annals of human genetics.

Mitochondrial respiratory states and rates

Sharma, Whiejong M. Han, Duchen, 2019 .

Generation and characterization of induced pluripotent stem cell (iPSC) lines of two asymptomatic individuals carrying a heterozygous exon 7 deletion in Parkin (PRKN) and two non-carriers from the same family.

P. Pramstaller, I. Pichler, Andrew A. Hicks, 2022, Stem cell research.

Frequency of Heterozygous Parkin (PRKN) Variants and Penetrance of Parkinson's Disease Risk Markers in the Population-Based CHRIS Cohort

P. Pramstaller, C. Fuchsberger, I. Pichler, 2021, Frontiers in Neurology.

Fine-Mapping of Restless Legs Locus 4 (RLS4) Identifies a Haplotype over the SPATS2L and KCTD18 Genes

Yiping Shen, J. Gusella, A. Hicks, 2013, Journal of Molecular Neuroscience.

Exome sequencing in a family with restless legs syndrome

U. Stephani, N. Brüggemann, K. Lohmann, 2012, Movement disorders : official journal of the Movement Disorder Society.

Restless legs syndrome: an update on genetics and future perspectives

P. Pramstaller, I. Pichler, Andrew A. Hicks, 2007, Clinical genetics.

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

J. Gusella, P. Pramstaller, A. De Grandi, 2006, American journal of human genetics.

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

T. Mayer, T. Meitinger, P. Pramstaller, 2006, Movement disorders : official journal of the Movement Disorder Society.

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

P. Pramstaller, I. Pichler, C. Klein, 2006, Movement disorders : official journal of the Movement Disorder Society.

University of Groningen Genome-Wide Association Study Identifies Novel Loci Associated with Circulating Phospho- and Sphingolipid Concentrations Demirkan,

A. Hofman, A. Uitterlinden, F. S. Domingues, 2012 .

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

A. Hicks, P. Pramstaller, I. Pichler, 2018, Parkinson's disease.

Correction: Serum Iron Levels and the Risk of Parkinson Disease: A Mendelian Randomization Study

Chuong B. Do, N. Eriksson, M. Nalls, 2013, PLoS Medicine.

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

A. Hofman, A. Uitterlinden, F. Rivadeneira, 2009, Human molecular genetics.

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

A. Peters, H. Wichmann, I. Heid, 2011, Human molecular genetics.

Interaction of Alpha-Synuclein With Lipids: Mitochondrial Cardiolipin as a Critical Player in the Pathogenesis of Parkinson’s Disease

M. Lévesque, A. Hicks, P. Pramstaller, 2020, Frontiers in Neuroscience.

Molecular phenotypes of mitochondrial dysfunction in clinically non-manifesting heterozygous PRKN variant carriers

P. Pramstaller, I. Pichler, A. Lavdas, 2023, NPJ Parkinson's disease.

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

J. Landers, C. Mariani, I. Pichler, 2018, Front. Mol. Neurosci..

Profiling of Parkin-Binding Partners Using Tandem Affinity Purification

Nadezhda T. Doncheva, F. S. Domingues, M. Albrecht, 2013, PloS one.

A Genome-Wide Association Search for Type 2 Diabetes Genes in African Americans

Simon C. Potter, Nicholette D. Palmer, Joshua P. Lewis, 2012, PLoS ONE.

Novel Loci for Adiponectin Levels and Their Influence on Type 2 Diabetes and Metabolic Traits: A Multi-Ethnic Meta-Analysis of 45,891 Individuals

Karen L. Mohlke, Luigi Ferrucci, Florian Kronenberg, 2012, PLoS genetics.

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

Simon C. Potter, P. Elliott, M. Jarvelin, 2010, Nature Genetics.

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

Henrik, Tanya M. Teslovich, Jennie, 2012 .

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

Tanya M. Teslovich, P. Elliott, M. Jarvelin, 2011, Nature Genetics.

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

P. Endicott, I. Pichler, Paul Brotherton, 2009, BMC genetics.

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

P. Pramstaller, C. Ober, C. Fuchsberger, 2010, European Journal of Human Genetics.

Edinburgh Research Explorer The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape

Tanya M. Teslovich, May E. Montasser, D. Hernandez, 2022 .

New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk (vol 42, pg 105, 2010)

Simon C. Potter, Albert R. Singleton, Jarvelin, 2010 .

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

Tanya M. Teslovich, Eric, P. Elliott, 2012 .

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

Tanya M. Teslovich, P. Elliott, M. Jarvelin, 2010, Nature Genetics.

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

Tanya M. Teslovich, May E. Montasser, C. Gieger, 2015, PLoS Genetics.

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

Tanya M. Teslovich, M. Jarvelin, L. Coin, 2010, Nature genetics.

Linkage and Genome‐wide Association Analysis of Obesity‐related Phenotypes: Association of Weight With the MGAT1 Gene

S. Wild, N. Hastie, I. Rudan, 2010, Obesity.

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

P. Elliott, M. Jarvelin, L. Coin, 2010, Nature Genetics.

Dopamine‑iron homeostasis interaction rescues mitochondrial fitness in Parkinson's disease

Emma L. Schymanski, P. Pramstaller, I. Pichler, 2023, Neurobiology of Disease.

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

P. Pramstaller, I. Pichler, Andrew A. Hicks, 2024, Journal of translational medicine.

Stomatin-like protein 2 senses oxidative stress through the interaction with phosphatidic acid to promote mitochondrial unfolded protein response

P. Pramstaller, I. Pichler, Andrew A. Hicks, 2024, bioRxiv.