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1

Plasma phosphatidylcholine and sphingomyelin concentrations are associated with depression and anxiety symptoms in a Dutch family-based lipidomics study

Demirkan, Ayşe, Isaacs, Aaron, Ugocsai, Peter, Liebisch, Gerhard, Struchalin, Maksim, Rudan, Igor, Wilson, James F., Pramstaller, Peter P., Gyllensten, Ulf, Campbell, Harry, Schmitz, Gerd, Oostra, Ben

Journal:

Journal of Psychiatric Research

Year:

2013

Language:

english

File:

PDF, 653 KB

english, 2013

2

A new hypothesis for Parkinson’s disease pathogenesis: GTPase-p38 MAPK signaling and autophagy as convergence points of etiology and genomics

Obergasteiger, Julia, Frapporti, Giulia, Pramstaller, Peter P., Hicks, Andrew A., Volta, Mattia

Journal:

Molecular Neurodegeneration

Year:

2018

Language:

english

File:

PDF, 990 KB

english, 2018

3

[ACM Press the internation symposium - Monterey, California, USA (2006.02.22-2006.02.24)] Proceedings of the internation symposium on Field programmable gate arrays - FPGA'06 - A compact FPGA implementation of the hash function whirlpool

Pramstaller, Norbert, Rechberger, Christian, Rijmen, Vincent

Year:

2006

Language:

english

File:

PDF, 235 KB

english, 2006

4

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

Pichler, Irene, Fuchsberger, Christian, Platzer, Christa, Çalişkan, Minal, Marroni, Fabio, Pramstaller, Peter P, Ober, Carole

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 440 KB

english, 2009

5

Generation of human induced pluripotent stem cells (EURACi001-A, EURACi002-A, EURACi003-A) from peripheral blood mononuclear cells of three patients carrying mutations in the CAV3 gene

Meraviglia, Viviana, Benzoni, Patrizia, Landi, Sara, Murano, Carmen, Langione, Marianna, Motta, Benedetta M., Baratto, Serena, Silipigni, Rosamaria, Di Segni, Marina, Pramstaller, Peter P., DiFrancesc

Journal:

Stem Cell Research

Year:

2018

Language:

english

File:

PDF, 283 KB

english, 2018

6

Ante litteram description of atypical parkinsonian cases

A. Brusa, P.P. Pramstaller

Journal:

Neurological Sciences

Year:

2000

Language:

english

File:

PDF, 35 KB

english, 2000

7

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

Irene Pichler, Fabio Marroni, Cristian Pattaro, Katja Lohmann, Alessandro de Grandi, Christine Klein, Andrew A. Hicks, Peter P. Pramstaller

Journal:

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Year:

2010

Language:

english

File:

PDF, 135 KB

english, 2010

8

Oculogyric dystonic states in early-onset parkinsonism with basal ganglia calcifications

Kis, B., Hedrich, K., Kann, M., Schwinger, E., Kompf, D., Klein, C., Pramstaller, P. P.

Journal:

Year:

2005

Language:

english

File:

PDF, 211 KB

english, 2005

9

PedVizApi: a Java API for the interactive, visual analysis of extended pedigrees

Fuchsberger, C., Falchi, M., Forer, L., Pramstaller, P. P.

Journal:

Year:

2008

Language:

english

File:

PDF, 182 KB

english, 2008

10

Generation of Induced Pluripotent Stem Cells from Frozen Buffy Coats using Non-integrating Episomal Plasmids

Meraviglia, Viviana, Zanon, Alessandra, Lavdas, Alexandros A., Schwienbacher, Christine, Silipigni, Rosamaria, Di Segni, Marina, Chen, Huei-Sheng Vincent, Pramstaller, Peter P., Hicks, Andrew A., Ross

Journal:

Journal of Visualized Experiments

Year:

2015

Language:

english

File:

PDF, 1.94 MB

english, 2015

11

Corrigendum to “Early detection of wearing off in Parkinson disease: The DEEP study” [Parkinsonism Relat Disorder 20 (2014) 204–211]

Stocchi, F., Antonini, A., Barone, P., Tinazzi, M., Zappia, M., Onofrj, M., Ruggieri, S., Morgante, L., Bonuccelli, U., Lopiano, L., Pramstaller, P., Albanese, A., Attar, M., Posocco, V., Colombo, D.,

Journal:

Parkinsonism & Related Disorders

Year:

2015

File:

PDF, 152 KB

2015

12

Modulation of SERCA2 function by direct lysine acetylation

Florio, M.C., Bocchi, L., Piubelli, C., Savi, M., Weichenberger, C., Corti, C., Sacchetto, R., Suffredini, S., Gaetano, C., Pompilio, G., Pramstaller, P.P., Domingues, F., Stilli, D., Rossini, A.

Journal:

Vascular Pharmacology

Year:

2015

Language:

english

File:

PDF, 52 KB

english, 2015

13

Serum iron level and kidney function: a Mendelian randomization study

Del Greco, Fabiola, Foco, Luisa, Pichler, Irene, Eller, Philipp, Eller, Kathrin, Benyamin, Beben, Whitfield, John B., Pramstaller, Peter P., Thompson, John R., Pattaro, Cristian, Minelli, Cosetta

Journal:

Nephrology Dialysis Transplantation

Year:

2016

Language:

english

File:

PDF, 196 KB

english, 2016

14

Elevated levels of alpha-synuclein blunt cellular signal transduction downstream of Gq protein-coupled receptors

Volta, Mattia, Lavdas, Alexandros A., Obergasteiger, Julia, Überbacher, Christa, Picard, Anne, Pramstaller, Peter P., Hicks, Andrew A., Corti, Corrado

Journal:

Cellular Signalling

Year:

2016

Language:

english

File:

PDF, 936 KB

english, 2016

15

RE imagine MEDICINE: Für die Medizin in Führung gehen; RE imagine MEDICINE: take the lead for medicine;

Pramstaller, P. P., Klein, C.

Journal:

Year:

2019

Language:

german

File:

PDF, 465 KB

german, 2019

16

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

Zanon, Alessandra, Riekschnitz, Diana, von Troyer, Michael, Volpato, Claudia, Picard, Anne, Cantaloni, Chiara, Di Segni, Marina, Silipigni, Rosamaria, Pramstaller, Peter P., Hicks, Andrew A., Pichler,

Journal:

Stem Cell Research

Year:

2019

Language:

english

File:

PDF, 897 KB

english, 2019

17

Responsiveness to distracting stimuli, though increased in Parkinson's disease, is decreased in asymptomatic PINK1 and Parkin mutation carriers

Rolf Verleger, Johann Hagenah, Manuel Weiß, Thomas Ewers, Ilse Heberlein, Peter P. Pramstaller, Hartwig R. Siebner, Christine Klein

Journal:

Neuropsychologia

Year:

2010

Language:

english

File:

PDF, 853 KB

english, 2010

18

Possible clinical overlap between postencephalitic parkinsonism and progressive supranuclear palsy.

Pramstaller, P P, Lees, A J, Luxon, L M

Journal:

Journal of Neurology Neurosurgery & Psychiatry

Year:

1996

Language:

english

File:

PDF, 684 KB

english, 1996

19

"Patientcentricity": An Editorial

Corradetti, Claudio, Pramstaller, Peter P., Mascalzoni, Deborah

Journal:

Studies in Ethics Law and Technology

Year:

2012

Language:

english

File:

PDF, 206 KB

english, 2012

20

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

Demirkan, Ayşe, van Duijn, Cornelia M., Ugocsai, Peter, Isaacs, Aaron, Pramstaller, Peter P., Liebisch, Gerhard, Wilson, James F., Johansson, Åsa, Rudan, Igor, Aulchenko, Yurii S., Kirichenko, Anatoly

Journal:

Year:

2012

Language:

english

File:

PDF, 654 KB

english, 2012

21

Copy Number Variation across European Populations

Chen, Wanting, Hayward, Caroline, Wright, Alan F., Hicks, Andrew A., Vitart, Veronique, Knott, Sara, Wild, Sarah H., Pramstaller, Peter P., Wilson, James F., Rudan, Igor, Porteous, David J., Toland, A

Journal:

Year:

2011

Language:

english

File:

PDF, 1.00 MB

english, 2011

22

The Impact of CRISPR/Cas9 Technology on Cardiac Research: From Disease Modelling to Therapeutic Approaches

Motta, Benedetta M., Pramstaller, Peter P., Hicks, Andrew A., Rossini, Alessandra

Journal:

Stem Cells International

Year:

2017

Language:

english

File:

PDF, 1.30 MB

english, 2017

23

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

Pramstaller, Peter

Journal:

Nature and Science of Sleep

Year:

2010

File:

PDF, 244 KB

2010

24

Heterozygous PINK1 mutations: A susceptibility factor for Parkinson disease?

Ana Djarmati, Katja Hedrich, Marina Svetel, Thora Lohnau, Eberhard Schwinger, Stanka Romac, Peter P. Pramstaller, Vladimir Kostić, Christine Klein

Journal:

Movement Disorders

Year:

2006

Language:

english

File:

PDF, 125 KB

english, 2006

25

Novel mutation in theTOR1A(DYT1) gene in atypical, early onset dystonia and polymorphisms in dystonia and early onset parkinsonism

Joanne Leung, Christine Klein, Jennifer Friedman, Peter Vieregge, Helfried Jacobs, Dana Doheny, Christoph Kamm, Deborah DeLeon, Peter P. Pramstaller, John B. Penney, Marvin Eisengart, Joseph Jankovic,

Journal:

Year:

2001

Language:

english

File:

PDF, 210 KB

english, 2001

26

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

Pichler, Irene, Mueller, Jakob C., Stefanov, Stefan A., De Grandi, Alessandro, Beu Volpato, Claudia, Pinggera, Gerd K., Mayr, Agnes, Ogriseg, Martin, Ploner, Franz, Meitinger, Thomas, Pramstaller, Pet

Journal:

Year:

2009

Language:

english

File:

PDF, 420 KB

english, 2009

27

Evidence for linkage of restless legs syndrome to chromosome 9p: Are there two distinct loci?

Lohmann-Hedrich, K., Neumann, A., Kleensang, A., Lohnau, T., Muhle, H., Djarmati, A., Konig, I. R., Pramstaller, P. P., Schwinger, E., Kramer, P. L., Ziegler, A., Stephani, U., Klein, C.

Journal:

Year:

2008

Language:

english

File:

PDF, 897 KB

english, 2008

28

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

Pichler, Irene, Mueller, Jakob C., Stefanov, Stefan A., Grandi, Alessandro De, Volpato, Claudia Beu, Pinggera, Gerd K., Mayr, Agnes, Ogriseg, Martin, Ploner, Franz, Meitinger, Thomas, Pramstaller, Pet

Journal:

Year:

2006

Language:

english

File:

PDF, 1.52 MB

english, 2006

29

Localising Loci underlying Complex Trait Variation Using Regional Genomic Relationship Mapping

Nagamine, Yoshitaka, Pong-Wong, Ricardo, Navarro, Pau, Vitart, Veronique, Hayward, Caroline, Rudan, Igor, Campbell, Harry, Wilson, James, Wild, Sarah, Hicks, Andrew A., Pramstaller, Peter P., Hastie,

Journal:

Year:

2012

Language:

english

File:

PDF, 1.25 MB

english, 2012

30

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

Alessandro De Grandi, Claudia Béu Volpato, Elisa Bedin, Cristian Pattaro, Fabio Marroni, Irene Pichler, Andrew Antony Hicks, Giorgio Casari, Peter Paul Pramstaller

Journal:

Journal of Molecular Neuroscience

Year:

2009

Language:

english

File:

PDF, 258 KB

english, 2009

31

Adapted Finnish Migraine-Specific Questionnaire for family studies (FMSQFS): a validation study in two languages

M. F. Facheris, F. D. Vogl, S. Hollmann, G. Sixt, C. Pattaro, R. Schönhuber, P. P. Pramstaller

Journal:

European Journal of Neurology

Year:

2008

Language:

english

File:

PDF, 72 KB

english, 2008

32

Parkin mutations in a patient with hemiparkinsonism-hemiatrophy: A clinical-genetic and PET study

Pramstaller, P. P., Kunig, G., Leenders, K., Kann, M., Hedrich, K., Vieregge, P., Goetz, C. G., Klein, C.

Journal:

Year:

2002

Language:

english

File:

PDF, 136 KB

english, 2002

33

NR4A2 mutations are rare among European patients with familial Parkinson's disease

Claudia Wellenbrock, Katja Hedrich, Nora Schäfer, Meike Kasten, Helfried Jacobs, Eberhard Schwinger, Johann Hagenah, Peter P. Pramstaller, Peter Vieregge, Christine Klein

Journal:

Annals of Neurology

Year:

2003

Language:

english

File:

PDF, 61 KB

english, 2003

34

Sequencing of high-complexity DNA pools for identification of nucleotide and structural variants in regions associated with complex traits

Zaboli, Ghazal, Ameur, Adam, Igl, Wilmar, Johansson, Åsa, Hayward, Caroline, Vitart, Veronique, Campbell, Susan, Zgaga, Lina, Polasek, Ozren, Schmitz, Gerd, van Duijn, Cornelia, Oostra, Ben, Pramstall

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 474 KB

english, 2012

35

Effect of suberoylanilide hydroxamic acid (SAHA) on functional properties of HL-1 cardiomyocytes

Suffredini, S., Gennaccaro, L., Florio, M.C., Pramstaller, P., Rossini, A.

Journal:

Vascular Pharmacology

Year:

2015

Language:

english

File:

PDF, 50 KB

english, 2015

36

The arrhythmogenic cardiomyopathy-specific coding and non-coding transcriptome in human cardiac stromal cells

Rainer, Johannes, Meraviglia, Viviana, Blankenburg, Hagen, Piubelli, Chiara, Pramstaller, Peter P., Paolin, Adolfo, Cogliati, Elisa, Pompilio, Giulio, Sommariva, Elena, Domingues, Francisco S., Rossin

Journal:

Year:

2018

Language:

english

File:

PDF, 1.56 MB

english, 2018

37

Frequency of parkin mutations in late-onset Parkinson's disease

Christine Klein, Katja Hedrich, Claudia Wellenbrock, Martin Kann, Juliette Harris, Karen Marder, Anthony E. Lang, Eberhard Schwinger, Laurie J. Ozelius, Peter Vieregge, Peter P. Pramstaller, Patricia

Journal:

Annals of Neurology

Year:

2003

Language:

english

File:

PDF, 61 KB

english, 2003

38

Primary central nervous system lymphoma presenting with a parkinsonian syndrome of pure akinesia

P. P. Pramstaller, A. Salerno, K. P. Bhatia, M. Prugger, C. D. Marsden

Journal:

Journal of Neurology

Year:

1999

Language:

english

File:

PDF, 392 KB

english, 1999

39

Blink amplitude but not saccadic hypometria indicates carriers ofParkinmutations

C. Helmchen, A. Schwekendiek, P.P. Pramstaller, K. Hedrich, C. Klein, H. Rambold

Journal:

Journal of Neurology

Year:

2006

Language:

english

File:

PDF, 94 KB

english, 2006

40

Imaging movement-related activity in medicated Parkin-associated and sporadic Parkinson’s disease

Thilo van Eimeren, Ferdinand Binkofski, Carsten Buhmann, Johann Hagenah, Antonio P. Strafella, Peter P. Pramstaller, Hartwig R. Siebner, Christine Klein

Journal:

Parkinsonism & Related Disorders

Year:

2010

Language:

english

File:

PDF, 130 KB

english, 2010

41

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

Rüdiger Hilker, Christine Klein, Katja Hedrich, Laurie J. Ozelius, Peter Vieregge, Karl Herholz, Peter P. Pramstaller, Wolf-Dieter Heiss

Journal:

Neuroscience Letters

Year:

2002

Language:

english

File:

PDF, 139 KB

english, 2002

42

Consenting in Population Genomics as an Open Communication Process

Mascalzoni, Deborah, Hicks, Andrew, Pramstaller, Peter P

Journal:

Studies in Ethics Law and Technology

Year:

2009

Language:

english

File:

PDF, 392 KB

english, 2009

43

The parkin gene is not involved in late-onset Parkinson's disease

Kann, M., Hedrich, K., Vieregge, P., Jacobs, H., Muller, B., Kock, N., Schwinger, E., Klein, C., Marder, K., Harris, J., Meija-Santana, H., Bressman, S., Ozelius, L.J., Lang, A.E., Pramstaller, P.P.,

Journal:

Year:

2002

Language:

english

File:

PDF, 128 KB

english, 2002

44

Lewy body Parkinson's disease in a large pedigree with 77 Parkin mutation carriers

Peter P. Pramstaller, Michael G. Schlossmacher, Thomas S. Jacques, Francesco Scaravilli, Cordula Eskelson, Imelda Pepivani, Katja Hedrich, Susanna Adel, Melissa Gonzales-McNeal, Rüdiger Hilker, Patric

Journal:

Annals of Neurology

Year:

2005

Language:

english

File:

PDF, 292 KB

english, 2005

45

Genetik der Dystonien

Ch. Klein, M. Kann, B. Kis, P.P. Pramstaller, X.O. Breakefield, L.J. Ozelius, P. Vieregge

Journal:

Year:

2000

Language:

german

File:

PDF, 569 KB

german, 2000

46

Mode of Inheritance and Susceptibility Locus for Restless Legs Syndrome, on Chromosome 12q

Norman Kock, Biljana Culjkovic, Susanna Maniak, Karla Schilling, Birgitt Müller, Christine Zühlke, Laurie Ozelius, Christine Klein, Peter P. Pramstaller, Patricia L. Kramer

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 803 KB

english, 2002

47

Special Issue in Honor of the 80th Anniversary of Human Biology: The Gabriel W. Lasker Award Winners, 1992-2008 || Genetic Structure in Contemporary South Tyrolean Isolated Populations Revealed by Analysis of Y-Chromosome, mtDNA, and Alu Polymorphisms

IRENE PICHLER, JAKOB C. MUELLER, STEFAN A. STEFANOV, ALESSANDRO DE GRANDI, CLAUDIA BEU VOLPATO, GERD K. PINGGERA, AGNES MAYR, MARTIN OGRISEG, FRANZ PLONER, THOMAS MEITINGER and PETER P. PRAMSTALLER

Journal:

Year:

2009

Language:

english

File:

PDF, 2.42 MB

english, 2009

48

Genome-wide analysis of epistasis in body mass index using multiple human populations

Wei, Wen-Hua, Hemani, Gib, Gyenesei, Attila, Vitart, Veronique, Navarro, Pau, Hayward, Caroline, Cabrera, Claudia P, Huffman, Jennifer E, Knott, Sara A, Hicks, Andrew A, Rudan, Igor, Pramstaller, Pete

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 357 KB

english, 2012

49

Estimating the Glomerular Filtration Rate in the General Population Using Different Equations: Effects on Classification and Association

Pattaro, Cristian, Riegler, Peter, Stifter, Gerald, Modenese, Mirko, Minelli, Cosetta, Pramstaller, Peter P.

Journal:

Nephron Clinical Practice

Year:

2013

Language:

english

File:

PDF, 373 KB

english, 2013

50

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

Schwienbacher, Christine, Serafin, Alice, Zanon, Alessandra, Pramstaller, Peter P., Pichler, Irene, Hicks, Andrew A.

Journal:

Year:

2013

Language:

english

File:

PDF, 809 KB

english, 2013

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