Pramstaller PP - Search Results

1

Application of CRISPR/Cas9 editing and digital droplet PCR in human iPSCs to generate novel knock-in reporter lines to visualize dopaminergic neurons.

Überbacher C, Obergasteiger J, Volta M, Venezia S, Müller S, Pesce I, Pizzi S, Lamonaca G, Picard A, Cattelan G, Malpeli G, Zoli M, Beccano-Kelly D, Flynn R, Wade-Martins R, Pramstaller PP, Hicks AA, Cowley SA, Corti C. Überbacher C, et al. Among authors: pramstaller pp. Stem Cell Res. 2019 Dec;41:101656. doi: 10.1016/j.scr.2019.101656. Epub 2019 Nov 9. Stem Cell Res. 2019. PMID: 31733438 Free PMC article.

2

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

Pichler I, Marroni F, Pattaro C, Lohmann K, de Grandi A, Klein C, Hicks AA, Pramstaller PP. Pichler I, et al. Among authors: pramstaller pp. Am J Med Genet B Neuropsychiatr Genet. 2010 Jan 5;153B(1):350-5. doi: 10.1002/ajmg.b.30988. Am J Med Genet B Neuropsychiatr Genet. 2010. PMID: 19526454

3

Copy number variation and association over T-cell receptor genes--influence of DNA source.

Schwienbacher C, De Grandi A, Fuchsberger C, Facheris MF, Svaldi M, Wjst M, Pramstaller PP, Hicks AA. Schwienbacher C, et al. Among authors: pramstaller pp. Immunogenetics. 2010 Aug;62(8):561-7. doi: 10.1007/s00251-010-0459-7. Epub 2010 Jun 26. Immunogenetics. 2010. PMID: 20582410

4

Linkage and association analysis of hyperthyrotropinaemia in an Alpine population reveal two novel loci on chromosomes 3q28-29 and 6q26-27.

Volpato CB, De Grandi A, Gögele M, Taliun D, Fuchsberger C, Facheris MF, Minelli C, Pattaro C, Pramstaller PP, Hicks AA. Volpato CB, et al. Among authors: pramstaller pp. J Med Genet. 2011 Aug;48(8):549-56. doi: 10.1136/jmg.2010.088583. Epub 2011 Jun 20. J Med Genet. 2011. PMID: 21690246

5

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

Pichler I, Schwienbacher C, Zanon A, Fuchsberger C, Serafin A, Facheris MF, Marroni F, Pattaro C, Shen Y, Tellgren-Roth C, Gyllensten U, Gusella JF, Hicks AA, Pramstaller PP. Pichler I, et al. Among authors: pramstaller pp. J Mol Neurosci. 2013 Mar;49(3):600-5. doi: 10.1007/s12031-012-9891-5. Epub 2012 Oct 2. J Mol Neurosci. 2013. PMID: 23054586

6

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

Schwienbacher C, Serafin A, Zanon A, Pramstaller PP, Pichler I, Hicks AA. Schwienbacher C, et al. Among authors: pramstaller pp. Hepatology. 2013 Nov;58(5):1860-1. doi: 10.1002/hep.26392. Epub 2013 Oct 1. Hepatology. 2013. PMID: 23504908 No abstract available.

7

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

Facheris MF, Hicks AA, Pramstaller PP, Pichler I. Facheris MF, et al. Among authors: pramstaller pp. Nat Sci Sleep. 2010 Sep 8;2:199-212. doi: 10.2147/NSS.S6946. Print 2010. Nat Sci Sleep. 2010. PMID: 23616710 Free PMC article.

8

Profiling of Parkin-binding partners using tandem affinity purification.

Zanon A, Rakovic A, Blankenburg H, Doncheva NT, Schwienbacher C, Serafin A, Alexa A, Weichenberger CX, Albrecht M, Klein C, Hicks AA, Pramstaller PP, Domingues FS, Pichler I. Zanon A, et al. Among authors: pramstaller pp. PLoS One. 2013 Nov 11;8(11):e78648. doi: 10.1371/journal.pone.0078648. eCollection 2013. PLoS One. 2013. PMID: 24244333 Free PMC article.

9

Identification of a set of endogenous reference genes for miRNA expression studies in Parkinson's disease blood samples.

Serafin A, Foco L, Blankenburg H, Picard A, Zanigni S, Zanon A, Pramstaller PP, Hicks AA, Schwienbacher C. Serafin A, et al. Among authors: pramstaller pp. BMC Res Notes. 2014 Oct 10;7:715. doi: 10.1186/1756-0500-7-715. BMC Res Notes. 2014. PMID: 25304816 Free PMC article.

10

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

Serafin A, Foco L, Zanigni S, Blankenburg H, Picard A, Zanon A, Giannini G, Pichler I, Facheris MF, Cortelli P, Pramstaller PP, Hicks AA, Domingues FS, Schwienbacher C. Serafin A, et al. Among authors: pramstaller pp. Neurology. 2015 Feb 17;84(7):645-53. doi: 10.1212/WNL.0000000000001258. Epub 2015 Jan 16. Neurology. 2015. PMID: 25596505

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