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Exome-wide association study of levodopa-induced dyskinesia in Parkinson's disease.
Published in:
Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-99393-8
By:
- König, Eva;
- Nicoletti, Alessandra;
- Pattaro, Cristian;
- Annesi, Grazia;
- Melotti, Roberto;
- Gialluisi, Alessandro;
- Schwienbacher, Christine;
- Picard, Anne;
- Blankenburg, Hagen;
- Pichler, Irene;
- Modugno, Nicola;
- Ciullo, Marina;
- Esposito, Teresa;
- Domingues, Francisco S.;
- Hicks, Andrew A.;
- Zappia, Mario;
- Pramstaller, Peter P.
Publication type:
Article
Mitochondrial DNA heteroplasmy distinguishes disease manifestation in PINK1/PRKN-linked Parkinson's disease.
Published in:
Brain: A Journal of Neurology, 2023, v. 146, n. 7, p. 2753, doi. 10.1093/brain/awac464
By:
- Trinh, Joanne;
- Hicks, Andrew A;
- König, Inke R;
- Delcambre, Sylvie;
- Lüth, Theresa;
- Schaake, Susen;
- Wasner, Kobi;
- Ghelfi, Jenny;
- Borsche, Max;
- Vilariño-Güell, Carles;
- Hentati, Faycel;
- Germer, Elisabeth L;
- Bauer, Peter;
- Takanashi, Masashi;
- Kostić, Vladimir;
- Lang, Anthony E;
- Brüggemann, Norbert;
- Pramstaller, Peter P;
- Pichler, Irene;
- Rajput, Alex
Publication type:
Article
Parkin Interacts with Apoptosis-Inducing Factor and Interferes with Its Translocation to the Nucleus in Neuronal Cells.
Published in:
International Journal of Molecular Sciences, 2019, v. 20, n. 3, p. 748, doi. 10.3390/ijms20030748
By:
- Guida, Marianna;
- Zanon, Alessandra;
- Montibeller, Luigi;
- Lavdas, Alexandros A.;
- Ladurner, Judith;
- Pischedda, Francesca;
- Rakovic, Aleksandar;
- Domingues, Francisco S.;
- Piccoli, Giovanni;
- Klein, Christine;
- Pramstaller, Peter P.;
- Hicks, Andrew A.;
- Pichler, Irene
Publication type:
Article
Haplotype analysis of the 4p16.3 region in Portuguese families with Huntington's disease.
Published in:
American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2015, v. 168B, n. 2, p. 135, doi. 10.1002/ajmg.b.32289
By:
- Ramos, Eliana Marisa;
- Gillis, Tammy;
- Mysore, Jayalakshmi S.;
- Lee, Jong‐Min;
- Gögele, Martin;
- D'Elia, Yuri;
- Pichler, Irene;
- Sequeiros, Jorge;
- Pramstaller, Peter P.;
- Gusella, James F.;
- MacDonald, Marcy E.;
- Alonso, Isabel
Publication type:
Article
The LRRK2 Variant E193K Prevents Mitochondrial Fission Upon MPP+ Treatment by Altering LRRK2 Binding to DRP1.
Published in:
Frontiers in Molecular Neuroscience, 2018, p. 1, doi. 10.3389/fnmol.2018.00064
By:
- Perez Carrion, Maria;
- Pischedda, Francesca;
- Biosa, Alice;
- Russo, Isabella;
- Straniero, Letizia;
- Civiero, Laura;
- Guida, Marianna;
- Gloeckner, Christian J.;
- Ticozzi, Nicola;
- Tiloca, Cinzia;
- Mariani, Claudio;
- Pezzoli, Gianni;
- Duga, Stefano;
- Pichler, Irene;
- Pan, Lifeng;
- Landers, John E.;
- Greggio, Elisa;
- Hess, Michael W.;
- Goldwurm, Stefano;
- Piccoli, Giovanni
Publication type:
Article
Genome-wide linkage analysis of serum creatinine in three isolated European populations.
Published in:
Kidney International, 2009, v. 76, n. 3, p. 297, doi. 10.1038/ki.2009.135
By:
- Pattaro, Cristian;
- Aulchenko, Yurii S.;
- Isaacs, Aaron;
- Vitart, Veronique;
- Hayward, Caroline;
- Franklin, Christopher S.;
- Polasek, Ozren;
- Kolcic, Ivana;
- Biloglav, Zrinka;
- Campbell, Susan;
- Hastie, Nick;
- Lauc, Gordan;
- Meitinger, Thomas;
- Oostra, Ben A.;
- Gyllensten, U. l. f.;
- Wilson, James F.;
- Pichler, Irene;
- Hicks, Andrew A.;
- Campbell, Harry;
- Wright, Alan F.
Publication type:
Article
Fine-Mapping of Restless Legs Locus 4 ( RLS4) Identifies a Haplotype over the SPATS2L and KCTD18 Genes.
Published in:
Journal of Molecular Neuroscience, 2013, v. 49, n. 3, p. 600, doi. 10.1007/s12031-012-9891-5
By:
- Pichler, Irene;
- Schwienbacher, Christine;
- Zanon, Alessandra;
- Fuchsberger, Christian;
- Serafin, Alice;
- Facheris, Maurizio;
- Marroni, Fabio;
- Pattaro, Cristian;
- Shen, Yiping;
- Tellgren-Roth, Christian;
- Gyllensten, Ulf;
- Gusella, James;
- Hicks, Andrew;
- Pramstaller, Peter
Publication type:
Article
ParkScreen: A Low-Cost Rapid Linkage Marker Panel for Parkinson’s Disease.
Published in:
Journal of Molecular Neuroscience, 2009, v. 39, n. 1/2, p. 235, doi. 10.1007/s12031-009-9193-8
By:
- De Grandi, Alessandro;
- Volpato, Claudia;
- Bedin, Elisa;
- Pattaro, Cristian;
- Marroni, Fabio;
- Pichler, Irene;
- Hicks, Andrew;
- Casari, Giorgio;
- Pramstaller, Peter
Publication type:
Article
Frequency of Heterozygous Parkin (PRKN) Variants and Penetrance of Parkinson's Disease Risk Markers in the Population-Based CHRIS Cohort.
Published in:
Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.706145
By:
- Castelo Rueda, Maria Paulina;
- Raftopoulou, Athina;
- Gögele, Martin;
- Borsche, Max;
- Emmert, David;
- Fuchsberger, Christian;
- Hantikainen, Essi M.;
- Vukovic, Vladimir;
- Klein, Christine;
- Pramstaller, Peter P.;
- Pichler, Irene;
- Hicks, Andrew A.
Publication type:
Article
Profiling of Parkin-Binding Partners Using Tandem Affinity Purification.
Published in:
PLoS ONE, 2013, v. 8, n. 11, p. 1, doi. 10.1371/journal.pone.0078648
By:
- Zanon, Alessandra;
- Rakovic, Aleksandar;
- Blankenburg, Hagen;
- Doncheva, Nadezhda T.;
- Schwienbacher, Christine;
- Serafin, Alice;
- Alexa, Adrian;
- Weichenberger, Christian X.;
- Albrecht, Mario;
- Klein, Christine;
- Hicks, Andrew A.;
- Pramstaller, Peter P.;
- Domingues, Francisco S.;
- Pichler, Irene
Publication type:
Article
Drawing the history of the Hutterite population on a genetic landscape: inference from Y-chromosome and mtDNA genotypes.
Published in:
European Journal of Human Genetics, 2010, v. 18, n. 4, p. 463, doi. 10.1038/ejhg.2009.172
By:
- Pichler, Irene;
- Fuchsberger, Christian;
- Platzer, Christa;
- Çalişkan, Minal;
- Marroni, Fabio;
- Pramstaller, Peter P.;
- Ober, Carole
Publication type:
Article
Drawing the history of the Hutterite population on a genetic landscape: inference from Y-chromosome and mtDNA genotypes.
Published in:
2010
By:
- Pichler, Irene;
- Fuchsberger, Christian;
- Platzer, Christa;
- Çalişkan, Minal;
- Marroni, Fabio;
- Pramstaller, Peter P.;
- Ober, Carole
Publication type:
Correction Notice
Interaction of Alpha-Synuclein With Lipids: Mitochondrial Cardiolipin as a Critical Player in the Pathogenesis of Parkinson's Disease.
Published in:
Frontiers in Neuroscience, 2020, v. 14, p. N.PAG, doi. 10.3389/fnins.2020.578993
By:
- Gilmozzi, Valentina;
- Gentile, Giovanna;
- Castelo Rueda, Maria Paulina;
- Hicks, Andrew A.;
- Pramstaller, Peter P.;
- Zanon, Alessandra;
- Lévesque, Martin;
- Pichler, Irene
Publication type:
Article
A genome on shaky ground: exploring the impact of mitochondrial DNA integrity on Parkinson’s disease by highlighting the use of cybrid models.
Published in:
Cellular & Molecular Life Sciences, 2022, v. 79, n. 5, p. 1, doi. 10.1007/s00018-022-04304-3
By:
- Lang, Martin;
- Grünewald, Anne;
- Pramstaller, Peter P.;
- Hicks, Andrew A.;
- Pichler, Irene
Publication type:
Article
Intracellular delivery of Parkin-RING0-based fragments corrects Parkin-induced mitochondrial dysfunction through interaction with SLP-2.
Published in:
Journal of Translational Medicine, 2024, v. 22, n. 1, p. 1, doi. 10.1186/s12967-024-04850-3
By:
- Zanon, Alessandra;
- Guida, Marianna;
- Lavdas, Alexandros A.;
- Corti, Corrado;
- Castelo Rueda, Maria Paulina;
- Negro, Alessandro;
- Pramstaller, Peter P.;
- Domingues, Francisco S.;
- Hicks, Andrew A.;
- Pichler, Irene
Publication type:
Article
Molecular phenotypes of mitochondrial dysfunction in clinically non-manifesting heterozygous PRKN variant carriers.
Published in:
NPJ Parkinson's Disease, 2023, v. 9, n. 1, p. 1, doi. 10.1038/s41531-023-00499-9
By:
- Castelo Rueda, Maria Paulina;
- Zanon, Alessandra;
- Gilmozzi, Valentina;
- Lavdas, Alexandros A.;
- Raftopoulou, Athina;
- Delcambre, Sylvie;
- Del Greco M, Fabiola;
- Klein, Christine;
- Grünewald, Anne;
- Pramstaller, Peter P.;
- Hicks, Andrew A.;
- Pichler, Irene
Publication type:
Article
Environmental and Genetic Variables Influencing Mitochondrial Health and Parkinson’s Disease Penetrance.
Published in:
Parkinson's Disease (20420080), 2018, p. 1, doi. 10.1155/2018/8684906
By:
- Zanon, Alessandra;
- Pramstaller, Peter P.;
- Hicks, Andrew A.;
- Pichler, Irene
Publication type:
Article
Corrigendum: SLP-2 interacts with Parkin in mitochondria and prevents mitochondrial dysfunction in Parkin-deficient human iPSC-derived neurons and Drosophila.
Published in:
Human Molecular Genetics, 2019, v. 28, n. 7, p. 1225, doi. 10.1093/hmg/ddy408
By:
- Zanon, Alessandra;
- Kalvakuri, Sreehari;
- Rakovic, Aleksandar;
- Foco, Luisa;
- Guida, Marianna;
- Schwienbacher, Christine;
- Serafin, Alice;
- Rudolph, Franziska;
- Trilck, Michaela;
- Grünewald, Anne;
- Stanslowsky, Nancy;
- Wegner, Florian;
- Giorgio, Valentina;
- Lavdas, Alexandros A;
- Bodmer, Rolf;
- Pramstaller, Peter P;
- Klein, Christine;
- Hicks, Andrew A;
- Pichler, Irene;
- Philip, Seibler
Publication type:
Article
SLP-2 interacts with Parkin in mitochondria and prevents mitochondrial dysfunction in Parkin-deficient human iPSC-derived neurons and Drosophila.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 13, p. 2412, doi. 10.1093/hmg/ddx132
By:
- Zanon, Alessandra;
- Kalvakuri, Sreehari;
- Rakovic, Aleksandar;
- Foco, Luisa;
- Guida, Marianna;
- Schwienbacher, Christine;
- Serafin, Alice;
- Rudolph, Franziska;
- Trilck, Michaela;
- Grünewald, Anne;
- Stanslowsky, Nancy;
- Wegner, Florian;
- Giorgio, Valentina;
- Lavdas, Alexandros A.;
- Bodmer, Rolf;
- Pramstaller, Peter P.;
- Klein, Christine;
- Hicks, Andrew A.;
- Pichler, Irene;
- Seibler, Philip
Publication type:
Article
Meta-analysis of genome-wide association studies identifies two loci associated with circulating osteoprotegerin levels.
Published in:
Human Molecular Genetics, 2014, v. 23, n. 24, p. 6684, doi. 10.1093/hmg/ddu386
By:
- Kwan, Johnny S.H.;
- Hsu, Yi-Hsiang;
- Cheung, Ching-Lung;
- Dupuis, Josée;
- Saint-Pierre, Aude;
- Eriksson, Joel;
- Handelman, Samuel K.;
- Aragaki, Aaron;
- Karasik, David;
- Pramstaller, Peter P.;
- Kooperberg, Charles;
- Lacroix, Andrea Z.;
- Larson, Martin G.;
- Lau, Kam-Shing;
- Lorentzon, Mattias;
- Pichler, Irene;
- Sham, Pak C.;
- Taliun, Daniel;
- Vandenput, Liesbeth;
- Kiel, Douglas P.
Publication type:
Article
Genetic Structure in Contemporary South Tyrolean Isolated Populations Revealed by Analysis of Y-Chromosome, mtDNA, and Alu Polymorphisms.
Published in:
Human Biology, 2009, v. 81, n. 5/6, p. 875, doi. 10.3378/027.081.0629
By:
- PICHLER, IRENE;
- MUELLER, JAKOB C.;
- STEFANOV, STEFAN A.;
- DE GRANDI, ALESSANDRO;
- VOLPATO, CLAUDIA BEU;
- PINGGERA, GERD K.;
- MAYR, AGNES;
- OGRISEG, MARTIN;
- PLONER, FRANZ;
- MEITINGER, THOMAS;
- PRAMSTALLER, PETER P.
Publication type:
Article
Genetic Structure in Contemporary South Tyrolean Isolated Populations Revealed by Analysis of Y-Chromosome, mtDNA, and Alu Polymorphisms.
Published in:
Human Biology, 2006, v. 78, n. 4, p. 441, doi. 10.1353/hub.2006.0057
By:
- Pichler, Irene;
- Mueller, Jakob C.;
- Stefanov, Stefan A.;
- de Grandi, Alessandro;
- Volpato, Claudia Beu;
- Pinggera, Gerd K.;
- Mayr, Agnes;
- Ogriseg, Martin;
- Ploner, Franz;
- Meitinger, Thomas;
- Pramstaller, Peter P.
Publication type:
Article
Serum iron level and kidney function: a Mendelian randomization study.
Published in:
Nephrology Dialysis Transplantation, 2017, v. 32, n. 2, p. 273, doi. 10.1093/ndt/gfw215
By:
- Del Greco, M. Fabiola;
- Foco, Luisa;
- Pichler, Irene;
- Eller, Philipp;
- Eller, Kathrin;
- Benyamin, Beben;
- Whitfield, John B.;
- Pramstaller, Peter P.;
- Thompson, John R.;
- Pattaro, Cristian;
- Minelli, Cosetta
Publication type:
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.
Published in:
Human Molecular Genetics, 2011, v. 20, n. 8, p. 1660, doi. 10.1093/hmg/ddr035
By:
- Del Greco M., Fabiola;
- Pattaro, Cristian;
- Luchner, Andreas;
- Pichler, Irene;
- Winkler, Thomas;
- Hicks, Andrew A.;
- Fuchsberger, Christian;
- Franke, Andre;
- Melville, Scott A.;
- Peters, Annette;
- Wichmann, H. Erich;
- Schreiber, Stefan;
- Heid, Iris M.;
- Krawczak, Michael;
- Minelli, Cosetta;
- Wiedermann, Christian J.;
- Pramstaller, Peter P.
Publication type:
Article
Identification of a common variant in the TFR2 gene implicated in the physiological regulation of serum iron levels.
Published in:
Human Molecular Genetics, 2011, v. 20, n. 6, p. 1232, doi. 10.1093/hmg/ddq552
By:
- Pichler, Irene;
- Minelli, Cosetta;
- Sanna, Serena;
- Tanaka, Toshiko;
- Schwienbacher, Christine;
- Naitza, Silvia;
- Porcu, Eleonora;
- Pattaro, Cristian;
- Busonero, Fabio;
- Zanon, Alessandra;
- Maschio, Andrea;
- Melville, Scott A.;
- Grazia Piras, Maria;
- Longo, Dan L.;
- Guralnik, Jack;
- Hernandez, Dena;
- Bandinelli, Stefania;
- Aigner, Elmar;
- Murphy, Anthony T.;
- Wroblewski, Victor
Publication type:
Article
Novel association to the proprotein convertase PCSK7 gene locus revealed by analysing soluble transferrin receptor (sTfR) levels.
Published in:
Human Molecular Genetics, 2011, v. 20, n. 5, p. 1042, doi. 10.1093/hmg/ddq538
By:
- Oexle, Konrad;
- Ried, Janina S.;
- Hicks, Andrew A.;
- Tanaka, Toshiko;
- Hayward, Caroline;
- Bruegel, Mathias;
- Gögele, Martin;
- Lichtner, Peter;
- Müller-Myhsok, Bertram;
- Döring, Angela;
- Illig, Thomas;
- Schwienbacher, Christine;
- Minelli, Cosetta;
- Pichler, Irene;
- Fiedler, G. Martin;
- Thiery, Joachim;
- Rudan, Igor;
- Wright, Alan F.;
- Campbell, Harry;
- Ferrucci, Luigi
Publication type:
Article
Common variants in the JAZF1 gene associated with height identified by linkage and genome-wide association analysis.
Published in:
Human Molecular Genetics, 2009, v. 18, n. 2, p. 373, doi. 10.1093/hmg/ddn350
By:
- Johansson, Åsa;
- Marroni, Fabio;
- Hayward, Caroline;
- Franklin, Christopher S.;
- Kirichenko, Anatoly V.;
- Jonasson, Inger;
- Hicks, Andrew A.;
- Vitart, Veronique;
- Isaacs, Aaron;
- Axenovich, Tatiana;
- Campbell, Susan;
- Dunlop, Malcolm G.;
- Floyd, Jamie;
- Hastie, Nick;
- Hofman, Albert;
- Knott, Sara;
- Kolcic, Ivana;
- Pichler, Irene;
- Polasek, Ozren;
- Rivadeneira, Fernando
Publication type:
Article
Serum iron levels and the risk of Parkinson disease: a Mendelian randomization study.
Published in:
2013
By:
- Pichler, Irene;
- Del Greco M, Fabiola;
- Gögele, Martin;
- Lill, Christina M;
- Bertram, Lars;
- Do, Chuong B;
- Eriksson, Nicholas;
- Foroud, Tatiana;
- Myers, Richard H;
- Nalls, Michael;
- Keller, Margaux F;
- Benyamin, Beben;
- Whitfield, John B;
- Pramstaller, Peter P;
- Hicks, Andrew A;
- Thompson, John R;
- Minelli, Cosetta;
- PD GWAS Consortium;
- International Parkinson's Disease Genomics Consortium;
- Wellcome Trust Case Control Consortium 2
Publication type:
journal article
Serum Iron Levels and the Risk of Parkinson Disease: A Mendelian Randomization Study.
Published in:
PLoS Medicine, 2013, v. 10, n. 6, p. 1, doi. 10.1371/annotation/c4d81646-0c0e-4a3e-9425-b220bae2d8b6
By:
- Pichler, Irene;
- Del Greco M., Fabiola;
- Gögele, Martin;
- Lill, Christina M.;
- Bertram, Lars;
- Do, Chuong B.;
- Eriksson, Nicholas;
- Foroud, Tatiana;
- Myers, Richard H.;
- Nalls, Michael;
- Keller, Margaux F.;
- Benyamin, Beben;
- Whitfield, John B.;
- Pramstaller, Peter P.;
- Hicks, Andrew A.;
- Thompson, John R.;
- Minelli, Cosetta
Publication type:
Article
Exome sequencing in a family with restless legs syndrome.
Published in:
Movement Disorders, 2012, v. 27, n. 13, p. 1686, doi. 10.1002/mds.25191
By:
- Weissbach, Anne;
- Siegesmund, Katharina;
- Brüggemann, Norbert;
- Schmidt, Alexander;
- Kasten, Meike;
- Pichler, Irene;
- Muhle, Hiltrud;
- Lohmann, Ebba;
- Lohnau, Thora;
- Schwinger, Eberhard;
- Hagenah, Johann;
- Stephani, Ulrich;
- Pramstaller, Peter P.;
- Klein, Christine;
- Lohmann, Katja
Publication type:
Article
Restless legs syndrome: Epidemiological and clinicogenetic study in a South Tyrolean population isolate.
Published in:
Movement Disorders, 2006, v. 21, n. 8, p. 1189, doi. 10.1002/mds.20922
By:
- Vogl, Florian D.;
- Pichler, Irene;
- Adel, Susanna;
- Pinggera, Gerd K.;
- Bracco, Stefano;
- De Grandi, Alessandro;
- Volpato, Claudia Beu;
- Aridon, Paolo;
- Mayer, Thomas;
- Meitinger, Thomas;
- Klein, Christine;
- Casari, Giorgio;
- Pramstaller, Peter P.
Publication type:
Article
Co-occurrence of restless legs syndrome and Parkin mutations in two families.
Published in:
Movement Disorders, 2006, v. 21, n. 2, p. 258, doi. 10.1002/mds.20690
By:
- Adel, Susanna;
- Djarmati, Ana;
- Kabakci, Kemal;
- Pichler, Irene;
- Eskelson, Cordula;
- Lohnau, Thora;
- Kock, Norman;
- Hagenah, Johann;
- Hedrich, Katja;
- Schwinger, Eberhard;
- Kramer, Patricia L.;
- Pramstaller, Peter P.;
- Klein, Christine
Publication type:
Article
Linkage and Genome-wide Association Analysis of Obesity-related Phenotypes: Association of Weight With the MGAT1 Gene.
Published in:
Obesity (19307381), 2010, v. 18, n. 4, p. 803, doi. 10.1038/oby.2009.359
By:
- Johansson, Åsa;
- Marroni, Fabio;
- Hayward, Caroline;
- Franklin, Christopher S.;
- Kirichenko, Anatoly V.;
- Jonasson, Inger;
- Hicks, Andrew A.;
- Vitart, Veronique;
- Isaacs, Aaron;
- Axenovich, Tatiana;
- Campbell, Susan;
- Floyd, Jamie;
- Hastie, Nick;
- Knott, Sara;
- Lauc, Gordan;
- Pichler, Irene;
- Rotim, Kresimir;
- Wild, Sarah H.;
- Zorkoltseva, Irina V.;
- Wilson, James F.
Publication type:
Article
Crosstalk of organelles in Parkinson's disease – MiT family transcription factors as central players in signaling pathways connecting mitochondria and lysosomes.
Published in:
Molecular Neurodegeneration, 2022, v. 17, n. 1, p. 1, doi. 10.1186/s13024-022-00555-7
By:
- Lang, Martin;
- Pramstaller, Peter P.;
- Pichler, Irene
Publication type:
Article
The genetic study of three population microisolates in South Tyrol (MICROS): study design and epidemiological perspectives.
Published in:
BMC Medical Genetics, 2007, v. 8, p. 29, doi. 10.1186/1471-2350-8-29
By:
- Pattaro, Cristian;
- Marroni, Fabio;
- Riegler, Alice;
- Mascalzoni, Deborah;
- Pichler, Irene;
- Volpato, Claudia B.;
- Dal Cero, Umberta;
- De Grandi, Alessandro;
- Egger, Clemens;
- Eisendle, Agatha;
- Fuchsberger, Christian;
- Gögele, Martin;
- Pedrotti, Sara;
- Pinggera, Gerd K.;
- Stefanov, Stefan A.;
- Vogl, Florian D.;
- Wiedermann, Christian J.;
- Meitinger, Thomas;
- Pramstaller, Peter P.
Publication type:
Article

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