Irene Pichler

Summary

Affiliation: European Academy
Country: Italy

Publications

  1. pmc Profiling of Parkin-binding partners using tandem affinity purification
    Alessandra Zanon
    Center for Biomedicine, European Academy Bozen Bolzano EURAC, Bolzano, Italy, Affiliated Institute of the University of Lübeck, Lubeck, Germany
    PLoS ONE 8:e78648. 2013
  2. pmc Serum iron levels and the risk of Parkinson disease: a Mendelian randomization study
    Irene Pichler
    Center for Biomedicine, European Academy Bozen Bolzano EURAC, Bolzano, Italy
    PLoS Med 10:e1001462. 2013
  3. pmc Genotyping human ancient mtDNA control and coding region polymorphisms with a multiplexed Single-Base-Extension assay: the singular maternal history of the Tyrolean Iceman
    Phillip Endicott
    Museèe de l Homme, 17 Place du Trocadero, 75116 Paris, France
    BMC Genet 10:29. 2009
  4. pmc Drawing the history of the Hutterite population on a genetic landscape: inference from Y-chromosome and mtDNA genotypes
    Irene Pichler
    Institute of Genetic Medicine, European Academy Bozen Bolzano, EURAC, Bolzano, Italy Affiliated Institute of the University of Lübeck, Germany corrected
    Eur J Hum Genet 18:463-70. 2010
  5. doi Fine-mapping of restless legs locus 4 (RLS4) identifies a haplotype over the SPATS2L and KCTD18 genes
    Irene Pichler
    Center for Biomedicine, European Academy Bozen Bolzano EURAC Affiliated institute of the University of Lübeck, Drususallee 1, 39100, Bozen Bolzano, Italy
    J Mol Neurosci 49:600-5. 2013
  6. doi ParkScreen: a low-cost rapid linkage marker panel for Parkinson's disease
    Alessandro De Grandi
    Institute of Genetic Medicine, European Academy Bozen Bolzano EURAC, Affiliated Institute of the University Lübeck, Germany, Viale Druso 1, 39100, Bolzano Bozen, Italy
    J Mol Neurosci 39:235-41. 2009
  7. ncbi Genetic structure in contemporary south Tyrolean isolated populations revealed by analysis of Y-chromosome, mtDNA, and Alu polymorphisms
    Irene Pichler
    Institute of Genetic Medicine, European Academy of Bolzano, Viale Druso 1, 39100 Bolzano Bozen, Italy
    Hum Biol 78:441-64. 2006
  8. doi Genome-wide linkage analysis of serum creatinine in three isolated European populations
    Cristian Pattaro
    Institute of Genetic Medicine, European Academy Bozen Bolzano EURAC, Bolzano, Italy
    Kidney Int 76:297-306. 2009
  9. pmc The genetic study of three population microisolates in South Tyrol (MICROS): study design and epidemiological perspectives
    Cristian Pattaro
    Institute of Genetic Medicine, European Academy, Bolzano, Italy
    BMC Med Genet 8:29. 2007
  10. pmc Genetic determinants of circulating sphingolipid concentrations in European populations
    Andrew A Hicks
    Institute of Genetic Medicine, European Academy Bozen Bolzano EURAC, Bolzano, Italy
    PLoS Genet 5:e1000672. 2009

Collaborators

Detail Information

Publications19

  1. pmc Profiling of Parkin-binding partners using tandem affinity purification
    Alessandra Zanon
    Center for Biomedicine, European Academy Bozen Bolzano EURAC, Bolzano, Italy, Affiliated Institute of the University of Lübeck, Lubeck, Germany
    PLoS ONE 8:e78648. 2013
    ..New candidates for involvement in cell death processes, protein folding, the fission/fusion machinery, and the mitophagy pathway were identified, which provide a resource for further elucidating Parkin function. ..
  2. pmc Serum iron levels and the risk of Parkinson disease: a Mendelian randomization study
    Irene Pichler
    Center for Biomedicine, European Academy Bozen Bolzano EURAC, Bolzano, Italy
    PLoS Med 10:e1001462. 2013
    ....
  3. pmc Genotyping human ancient mtDNA control and coding region polymorphisms with a multiplexed Single-Base-Extension assay: the singular maternal history of the Tyrolean Iceman
    Phillip Endicott
    Museèe de l Homme, 17 Place du Trocadero, 75116 Paris, France
    BMC Genet 10:29. 2009
    ....
  4. pmc Drawing the history of the Hutterite population on a genetic landscape: inference from Y-chromosome and mtDNA genotypes
    Irene Pichler
    Institute of Genetic Medicine, European Academy Bozen Bolzano, EURAC, Bolzano, Italy Affiliated Institute of the University of Lübeck, Germany corrected
    Eur J Hum Genet 18:463-70. 2010
    ..The Hutterite male and female gene pools are similar with respect to genetic diversity and genetic distance measures and comparable with respect to their origins, suggesting a similar evolutionary history...
  5. doi Fine-mapping of restless legs locus 4 (RLS4) identifies a haplotype over the SPATS2L and KCTD18 genes
    Irene Pichler
    Center for Biomedicine, European Academy Bozen Bolzano EURAC Affiliated institute of the University of Lübeck, Drususallee 1, 39100, Bozen Bolzano, Italy
    J Mol Neurosci 49:600-5. 2013
    ..Using a next generation sequencing approach, we further restricted the shared candidate region to 46.9 Kb over the potassium channel-related gene KCTD18 and exons 10-13 of SPATS2L...
  6. doi ParkScreen: a low-cost rapid linkage marker panel for Parkinson's disease
    Alessandro De Grandi
    Institute of Genetic Medicine, European Academy Bozen Bolzano EURAC, Affiliated Institute of the University Lübeck, Germany, Viale Druso 1, 39100, Bolzano Bozen, Italy
    J Mol Neurosci 39:235-41. 2009
    ..ParkScreen is a useful and inexpensive tool that allows the rapid screening of patients in families suitable for clinical follow-up and further characterization in order to identify specific mutations or novel genes...
  7. ncbi Genetic structure in contemporary south Tyrolean isolated populations revealed by analysis of Y-chromosome, mtDNA, and Alu polymorphisms
    Irene Pichler
    Institute of Genetic Medicine, European Academy of Bolzano, Viale Druso 1, 39100 Bolzano Bozen, Italy
    Hum Biol 78:441-64. 2006
    ....
  8. doi Genome-wide linkage analysis of serum creatinine in three isolated European populations
    Cristian Pattaro
    Institute of Genetic Medicine, European Academy Bozen Bolzano EURAC, Bolzano, Italy
    Kidney Int 76:297-306. 2009
    ..Our finding of a replicated association of serum creatinine with the MYH9 gene, recently linked to pathological renal conditions in African Americans, suggests that this gene may also influence kidney function in healthy Europeans...
  9. pmc The genetic study of three population microisolates in South Tyrol (MICROS): study design and epidemiological perspectives
    Cristian Pattaro
    Institute of Genetic Medicine, European Academy, Bolzano, Italy
    BMC Med Genet 8:29. 2007
    ..For historical and political reasons, South Tyrol, the northern most Italian region, includes several villages of small dimensions which remained isolated over the centuries...
  10. pmc Genetic determinants of circulating sphingolipid concentrations in European populations
    Andrew A Hicks
    Institute of Genetic Medicine, European Academy Bozen Bolzano EURAC, Bolzano, Italy
    PLoS Genet 5:e1000672. 2009
    ....
  11. doi Parkin gene modifies the effect of RLS4 on the age at onset of restless legs syndrome (RLS)
    Irene Pichler
    Institute of Genetic Medicine, European Academy Bozen Bolzano EURAC, Bolzano, Italy Affiliated Institute of the University of Lübeck, Germany
    Am J Med Genet B Neuropsychiatr Genet 153:350-5. 2010
    ..9 years. However, there was no effect on the disease severity. Our results suggest that the occurrence of a heterozygous Parkin mutation works in tandem with the gene at the RLS4 locus to lower the AAO in RLS...
  12. pmc 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
    Fabiola Del Greco M
    Institute of Genetic Medicine, European Academy Bozen Bolzano EURAC, Bolzano, Italy
    Hum Mol Genet 20:1660-71. 2011
    ..The identification of novel variants in the MTHFR-CLCN6-NPPA-NPPB cluster provides new insights into the biological mechanisms of cardiac dysfunction...
  13. doi Exclusion of linkage to chromosome 14q in a large South Tyrolean family with Idiopathic Basal Ganglia Calcification (IBGC)
    Claudia Beu Volpato
    Institute of Genetic Medicine, European Academy, Bolzano, Italy
    Am J Med Genet B Neuropsychiatr Genet 147:1319-22. 2008
    ..Linkage analysis excluded the IBCG1 locus, thus demonstrating further locus heterogeneity for this disease...
  14. pmc Identification of a common variant in the TFR2 gene implicated in the physiological regulation of serum iron levels
    Irene Pichler
    Institute of Genetic Medicine, European Academy Bozen Bolzano, 39100 Bolzano, Italy
    Hum Mol Genet 20:1232-40. 2011
    ....
  15. pmc A genome-wide association scan of RR and QT interval duration in 3 European genetically isolated populations: the EUROSPAN project
    Fabio Marroni
    Institute of Genetic Medicine, Helmholtz Zentrum Munchen, German Research Center for Environmental Health, Neuherberg, Munich, Germany
    Circ Cardiovasc Genet 2:322-8. 2009
    ..We set out to identify common genetic determinants of the length of the RR and QT intervals in 2325 individuals from isolated European populations...
  16. pmc Linkage analysis identifies a novel locus for restless legs syndrome on chromosome 2q in a South Tyrolean population isolate
    Irene Pichler
    Institute of Genetic Medicine, European Academy, Bolzano, Italy
    Am J Hum Genet 79:716-23. 2006
    ..1). These findings reemphasize the genetic heterogeneity of the disorder and strongly support the identification of a novel locus for RLS on chromosome 2q...
  17. pmc Update on the management of restless legs syndrome: existing and emerging treatment options
    Maurizio F Facheris
    Institute of Genetic Medicine, European Academy Bozen Bolzano EURAC, Bolzano, Italy Affiliated Institute of the University of Lübeck, Lubeck, Germany Department of Neurology, Central Hospital, Bolzano, Italy
    Nat Sci Sleep 2:199-212. 2010
    ..Undiagnosed, wrongly diagnosed, and untreated RLS is associated with a significant impairment of the quality of life...
  18. doi Exome sequencing in a family with restless legs syndrome
    Anne Weissbach
    Section of Clinical and Molecular Neurogenetics at the Department of Neurology, University of Lubeck, Lubeck, Germany
    Mov Disord 27:1686-9. 2012
    ..Restless legs syndrome (RLS) has a high familial aggregation. To date, several loci and genetic risk factors have been identified, but no causative gene mutation has been found...
  19. ncbi Restless legs syndrome: epidemiological and clinicogenetic study in a South Tyrolean population isolate
    Florian D Vogl
    Institute of Genetic Medicine, European Academy, Bolzano, Italy
    Mov Disord 21:1189-95. 2006
    ..The absence of a suggestive linkage signal at the three known RLS susceptibility loci is indicative of further locus heterogeneity of this frequent disorder and encourages further studies to unveil the genetic causes of RLS...